LAMB1
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Summary
LAMB1 (laminin subunit beta 1, HGNC:6486) is a protein-coding gene on chromosome 7q31.1, encoding Laminin subunit beta-1 (P07942). Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.
Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 1. The beta 1 chain has 7 structurally distinct domains which it shares with other beta chain isomers. The C-terminal helical region containing domains I and II are separated by domain alpha, domains III and V contain several EGF-like repeats, and domains IV and VI have a globular conformation. Laminin, beta 1 is expressed in most tissues that produce basement membranes, and is one of the 3 chains constituting laminin 1, the first laminin isolated from Engelbreth-Holm-Swarm (EHS) tumor. A sequence in the beta 1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor was identified and shown to have the capacity to inhibit metastasis.
Source: NCBI Gene 3912 — RefSeq curated summary.
At a glance
- Gene–disease (curated): cobblestone lissencephaly without muscular or ocular involvement (Strong, GenCC) — +1 more curated relationship
- GWAS associations: 38
- Clinical variants (ClinVar): 1,149 total — 35 pathogenic, 17 likely-pathogenic
- Phenotypes (HPO): 63
- Druggable target: yes
- MANE Select transcript:
NM_002291
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6486 |
| Approved symbol | LAMB1 |
| Name | laminin subunit beta 1 |
| Location | 7q31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000091136 |
| Ensembl biotype | protein_coding |
| OMIM | 150240 |
| Entrez | 3912 |
Gene structure
Transcript identifiers
Ensembl transcripts: 42 — 16 retained_intron, 14 protein_coding, 10 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000222399, ENST00000393559, ENST00000393560, ENST00000393561, ENST00000439976, ENST00000468518, ENST00000468999, ENST00000472714, ENST00000474380, ENST00000491196, ENST00000676574, ENST00000676592, ENST00000676744, ENST00000676777, ENST00000676920, ENST00000677101, ENST00000677144, ENST00000677485, ENST00000677588, ENST00000677652, ENST00000677734, ENST00000677793, ENST00000677801, ENST00000677883, ENST00000677957, ENST00000677994, ENST00000678232, ENST00000678266, ENST00000678310, ENST00000678346, ENST00000678698, ENST00000678704, ENST00000678892, ENST00000678984, ENST00000679173, ENST00000679200, ENST00000679244, ENST00000852248, ENST00000916407, ENST00000916408, ENST00000943287, ENST00000943288
RefSeq mRNA: 1 — MANE Select: NM_002291
NM_002291
CCDS: CCDS5750
Canonical transcript exons
ENST00000222399 — 34 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000580726 | 107986022 | 107986085 |
| ENSE00000580727 | 107980609 | 107980811 |
| ENSE00000580728 | 107978047 | 107978167 |
| ENSE00000580730 | 107986175 | 107986363 |
| ENSE00000580733 | 107975689 | 107975877 |
| ENSE00000715975 | 107955467 | 107955630 |
| ENSE00000715992 | 107959249 | 107959480 |
| ENSE00000716028 | 107959691 | 107959834 |
| ENSE00000716060 | 107960445 | 107960649 |
| ENSE00000716087 | 107961206 | 107961329 |
| ENSE00000716111 | 107961549 | 107961676 |
| ENSE00000716166 | 107962905 | 107963063 |
| ENSE00000716210 | 107964552 | 107964687 |
| ENSE00000716294 | 107972992 | 107973071 |
| ENSE00000716366 | 107974986 | 107975098 |
| ENSE00000716383 | 107975234 | 107975413 |
| ENSE00000716662 | 107994887 | 107994960 |
| ENSE00000716667 | 107998357 | 107998492 |
| ENSE00001302756 | 108002849 | 108002971 |
| ENSE00001303122 | 108001558 | 108001733 |
| ENSE00001618310 | 107937093 | 107937277 |
| ENSE00001644859 | 107929064 | 107929205 |
| ENSE00001746254 | 107929412 | 107929619 |
| ENSE00001761203 | 107939989 | 107940358 |
| ENSE00001778578 | 107932174 | 107932377 |
| ENSE00001820525 | 107923799 | 107924087 |
| ENSE00001940171 | 108003111 | 108003161 |
| ENSE00002345671 | 107953530 | 107953754 |
| ENSE00003488044 | 107952009 | 107952223 |
| ENSE00003512676 | 107926183 | 107926359 |
| ENSE00003574922 | 107924230 | 107924389 |
| ENSE00003597625 | 107951226 | 107951322 |
| ENSE00003648330 | 107931356 | 107931500 |
| ENSE00003666353 | 107935415 | 107935656 |
Expression profiles
Bgee: expression breadth ubiquitous, 284 present calls, max score 99.33.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.6183 / max 603.1294, expressed in 1463 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 85641 | 45.5608 | 1462 |
| 85639 | 1.4355 | 708 |
| 85638 | 0.4080 | 227 |
| 85637 | 0.2141 | 95 |
Top tissues by expression
300 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| nerve | UBERON:0001021 | 99.33 | gold quality |
| tibial nerve | UBERON:0001323 | 99.33 | gold quality |
| omental fat pad | UBERON:0010414 | 99.27 | gold quality |
| peritoneum | UBERON:0002358 | 99.26 | gold quality |
| right lung | UBERON:0002167 | 99.25 | gold quality |
| metanephros cortex | UBERON:0010533 | 99.17 | gold quality |
| colonic epithelium | UBERON:0000397 | 99.15 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 99.02 | gold quality |
| stromal cell of endometrium | CL:0002255 | 99.01 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 99.01 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 98.96 | gold quality |
| upper lobe of lung | UBERON:0008948 | 98.92 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 98.83 | gold quality |
| parietal pleura | UBERON:0002400 | 98.82 | gold quality |
| lower esophagus | UBERON:0013473 | 98.82 | gold quality |
| sural nerve | UBERON:0015488 | 98.68 | gold quality |
| left uterine tube | UBERON:0001303 | 98.55 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 98.55 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 98.44 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 98.44 | gold quality |
| pleura | UBERON:0000977 | 98.42 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.37 | gold quality |
| pericardium | UBERON:0002407 | 98.37 | gold quality |
| body of pancreas | UBERON:0001150 | 98.34 | gold quality |
| body of uterus | UBERON:0009853 | 98.32 | gold quality |
| renal medulla | UBERON:0000362 | 98.27 | gold quality |
| transverse colon | UBERON:0001157 | 98.25 | gold quality |
| lower lobe of lung | UBERON:0008949 | 98.19 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 98.13 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 98.13 | gold quality |
Single-cell (SCXA)
Detected in 12 experiment(s), a significant marker in 12.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10287 | yes | 374.34 |
| E-CURD-119 | yes | 38.97 |
| E-HCAD-10 | yes | 32.45 |
| E-GEOD-134144 | yes | 30.67 |
| E-CURD-46 | yes | 26.48 |
| E-MTAB-6678 | yes | 11.81 |
| E-MTAB-5061 | yes | 11.23 |
| E-CURD-112 | yes | 8.89 |
| E-GEOD-84465 | yes | 7.38 |
| E-GEOD-83139 | yes | 7.12 |
| E-MTAB-9067 | yes | 6.84 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AP1, HOXA1, HR, JUN, NANOG, NR2F1, NR3C1, RARA, RARB, RARG, RORA, SSB
miRNA regulators (miRDB)
24 targeting LAMB1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-8070 | 99.07 | 69.30 | 1303 |
| HSA-MIR-8066 | 99.05 | 68.66 | 1532 |
| HSA-MIR-4709-3P | 98.88 | 68.04 | 1594 |
| HSA-MIR-4764-3P | 96.81 | 67.94 | 580 |
| HSA-MIR-4703-3P | 96.68 | 68.61 | 545 |
| HSA-MIR-6813-3P | 95.78 | 63.78 | 540 |
| HSA-MIR-3200-3P | 95.41 | 64.23 | 396 |
| HSA-MIR-6800-5P | 94.59 | 64.80 | 525 |
Literature-anchored findings (GeneRIF, showing 40)
- Laminin-10/11 and fibronectin differentially prevent apoptosis induced by serum removal via phosphatidylinositol 3-kinase/Akt- and MEK1/ERK-dependent pathways (Laminin 10; separate entry for Laminin 11). (PMID:11891225)
- mRNA encoding laminin-alpha1, -beta1, and -gamma1 chains was expressed in 90% of endometriotic lesions. (PMID:12615822)
- Data suggest that laminin-10 (alpha5beta1gamma1) is required for hair follicle development and report the first use of exogenous protein to correct a cutaneous developmental defect. (PMID:12743034)
- alteration of LAMB1 expression is associated with the genesis and development of uterine leiomyoma (PMID:15706419)
- prostate cancer cells expressing high levels of MT1-MMP have increased invasive potential through their ability to degrade and invade Ln-10 barriers (PMID:15967115)
- laminin beta1 chain (a constituent of laminin-8) was typically found in vessel walls of carcinomas and their metastases but not in those of normal breast (PMID:15987446)
- laminin isoform changes are associated with brain tumor invasion and angiogenesis [review] (PMID:16146715)
- Real-time PCR showed that ETOH significantly altered the expression of genes involved in cell adhesion. There was an increase in the expression of alpha and beta Laminins 1, beta Integrins 3 and 5, Secreted phosphoprotein1 and Sarcoglycan epsilon. (PMID:18162078)
- laminin supports platelet adhesion depending on the interaction of VWF and GPIb-IX-V under pathophysiological high shear flow (PMID:18450753)
- Meningiomas increase in size through increased production of extracellular matrix; furthermore, the proliferation of cells typically associated with neoplasia requires considerable interaction with the extracellular matrix. (PMID:18474427)
- Elevated expression of laminin beta1 mRNA and protein in the hippocampus suggests that laminin beta1 may play a role in the development of epileptic seizures in patients with intractable epilepsy. (PMID:18691630)
- beta2 chain-containing laminins (beta2-laminins) bound more avidly to alpha3beta1 and alpha7X2beta1 integrins than beta1 chain-containing laminins (beta1-laminins). (PMID:19147489)
- laminin-111 (alpha(1), beta(1), gamma(1)), which is expressed during embryonic development but absent in normal or dystrophic skeletal muscle, increased alpha(7)-integrin expression in mouse and DMD patient myoblasts (PMID:19416897)
- The presence of nuclear beta-catenin and high content of mmp-9 in the tumor were associated with abnormal accumulation of laminin in the cytoplasm. These changes were characteristic of colorectal cancer with high invasive metastatic potential. (PMID:19526105)
- LAMB1 new susceptibility loci for ulcerative colitis (PMID:19915572)
- results suggest that Lm3B11/3B21 may be required for normal mature vessels and interfere with tumor angiogenesis (PMID:21276136)
- Laminin beta1 and integrin alpha2 expression is elevated in the anterior temporal neocortex tissue from patients with intractable epilepsy. (PMID:21370991)
- We did not find an association of rs6949033 (LAMB1) with ulcerative colitis. (PMID:21744425)
- Homozygous deleterious mutations in LAMB1. (PMID:23472759)
- The phenotype due to LAMB2 mutations appears to be similar between different ethnic groups. (PMID:23679161)
- Upregulation of LAMB1 expression was highly correlated with the downregulation of miR-124-5p. LAMB1 protein expression was suppressed by miR-124-5p. (PMID:24497408)
- Extracellular matrix proteins expression profiling in chemoresistant variants of the A2780 ovarian cancer cell line. (PMID:24804215)
- Laminins 411 and 421 differentially promote tumor cell migration via alpha6beta1 integrin and MCAM (CD146). (PMID:24951930)
- LAMB1 single nucleotide polymorphism rs886774 was associated with early onset Ulcerative colitis and, thus, suggests a fundamentally different mechanism of early disease pathogenesis in Ulcerative colitis versus Crohn’s disease. (PMID:25664710)
- An association was found between LAMB1 rs2158836 polymorphisms and symptom severity in Korean autism spectrum disorder patients. (PMID:25774865)
- These results suggest that MUC5B production can be regulated by ECM components and that MUC5B is upregulated by fibronectin and laminin via the integrin, ERK, and NF-kappaB dependent pathway. (PMID:26057585)
- LAMB1 is a potential serological biomarker that could be used in conjunction with carcinoembryonic antigen for diagnosis of colorectal cancer. (PMID:26359947)
- Our results suggest that an impairment in adhesion exists in vitiligo skin, which is supported by the diminished immunohistochemical expression of laminin, beta1 integrin, ICAM-1 and VCAM-1. (PMID:28214208)
- LAMB1 may affect the initiation and progression of pneumoconiosis, or serve as a potential biomarker of pneumoconiosis for diagnosis and genetic susceptibility. (PMID:28444932)
- In vitro activation of PDGFR-alpha leads to translational activation of LAMB1, which in turn induces an invasive and metastatic phenotype of hepatocellular carcinoma cells exhibiting K19 expression. (PMID:28783171)
- Treatment of Neuroscreen-1 (NS-1) cells with laminin-1 or YIGSR peptide, which corresponds to a sequence in laminin-1 beta1 chain that binds to 67LR, induced a decrease in the cell-surface expression of 67LR and caused its internalization. (PMID:29108990)
- High cytoplasmic laminin expression is associated with Oral Squamous Cell Carcinomas. (PMID:29479990)
- Age-related modulation of laminin beta1 versus beta2 chain expression changes the functional properties and phenotype of endothelial cells. The dysregulation of the extracellular matrix during vascular aging may contribute to age-associated impairment of organ function and fibrosis. (PMID:29599141)
- LAMB1 identified as Liver Fibrosis-specific gene, was significantly associated with Liver Fibrosis progression and could be combined to discriminate Liver Fibrosis stages regardless of any etiology. (PMID:30920297)
- Phosphorylation mapping of LAMB1 has been reported. (PMID:31180068)
- CRISPR-Cas9-mediated labelling of the C-terminus of human laminin beta1 leads to secretion inhibition. (PMID:32085798)
- Alterations in the immunoreactivity of laminin, type IV collagen and alpha3beta1 integrin in diabetic rat ovarian follicles. (PMID:32356431)
- Upregulation of LAMB1 via ERK/c-Jun Axis Promotes Gastric Cancer Growth and Motility. (PMID:33435161)
- LAMB1 Is Related to the T Stage and Indicates Poor Prognosis in Gastric Cancer. (PMID:33784890)
- End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy. (PMID:34606115)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lamb1b | ENSDARG00000045524 |
| danio_rerio | lamb1a | ENSDARG00000101209 |
| mus_musculus | Lamb1 | ENSMUSG00000002900 |
| rattus_norvegicus | Lamb1 | ENSRNOG00000005678 |
Paralogs (27): USH2A (ENSG00000042781), LAMC3 (ENSG00000050555), LAMA3 (ENSG00000053747), LAMC2 (ENSG00000058085), NTN1 (ENSG00000065320), NTN4 (ENSG00000074527), ATRN (ENSG00000088812), LAMB4 (ENSG00000091128), LAMA1 (ENSG00000101680), MEGF8 (ENSG00000105429), MEGF9 (ENSG00000106780), ATRNL1 (ENSG00000107518), LAMA4 (ENSG00000112769), LAMA5 (ENSG00000130702), LAMC1 (ENSG00000135862), NTN5 (ENSG00000142233), HSPG2 (ENSG00000142798), TMEFF2 (ENSG00000144339), NTN3 (ENSG00000162068), NTNG1 (ENSG00000162631), EGFLAM (ENSG00000164318), LAMB2 (ENSG00000172037), AGRN (ENSG00000188157), NTNG2 (ENSG00000196358), LAMA2 (ENSG00000196569), LAMB3 (ENSG00000196878), TMEFF1 (ENSG00000241697)
Protein
Protein identifiers
Laminin subunit beta-1 — P07942 (reviewed: P07942)
Alternative names: Laminin B1 chain, Laminin-1 subunit beta, Laminin-10 subunit beta, Laminin-12 subunit beta, Laminin-2 subunit beta, Laminin-6 subunit beta, Laminin-8 subunit beta
All UniProt accessions (17): P07942, A0A7I2V2J0, A0A7I2V2R2, A0A7I2V2T9, A0A7I2V378, A0A7I2V3I5, A0A7I2V3J7, A0A7I2V407, A0A7I2V4J9, A0A7I2V5R0, A0A7I2V5T9, A0A7I2V5X5, A0A7I2V682, C9J296, E7EPA6, E9PCS6, G3XAI2
UniProt curated annotations — full annotation on UniProt →
Function. Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Involved in the organization of the laminar architecture of the cerebral cortex. It is probably required for the integrity of the basement membrane/glia limitans that serves as an anchor point for the endfeet of radial glial cells and as a physical barrier to migrating neurons. Radial glial cells play a central role in cerebral cortical development, where they act both as the proliferative unit of the cerebral cortex and a scaffold for neurons migrating toward the pial surface. As a subunit of laminin-1 (also known as laminin-111 or EHS laminin), it is involved in the stimulation of agrin-induced receptor clustering through a MuSK-independent pathway.
Subunit / interactions. Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Beta-1 is a subunit of laminin-1 (laminin-111 or EHS laminin), laminin-2 (laminin-211 or merosin), laminin-6 (laminin-311 or K-laminin), laminin-8 (laminin-411), laminin-10 (laminin-511) and laminin-12 (laminin-213). Interacts with ITGB1.
Subcellular location. Secreted. Extracellular space. Extracellular matrix. Basement membrane.
Disease relevance. Lissencephaly 5 (LIS5) [MIM:615191] An autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development. The disease is caused by variants affecting the gene represented in this entry.
Domain organisation. The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure. Domains VI and IV are globular.
RefSeq proteins (1): NP_002282* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000742 | EGF | Domain |
| IPR002049 | LE_dom | Domain |
| IPR008211 | Laminin_N | Domain |
| IPR013015 | Laminin_IV_B | Domain |
| IPR050440 | Laminin/Netrin_ECM | Family |
| IPR056558 | LAMB1-4_helical | Domain |
| IPR056863 | LMN_ATRN_NET-like_EGF | Domain |
Pfam: PF00053, PF00055, PF21199, PF23219, PF24973
UniProt features (100 total): disulfide bond 54, domain 15, glycosylation site 11, modified residue 5, sequence variant 4, region of interest 3, coiled-coil region 3, sequence conflict 2, signal peptide 1, chain 1, helix 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5XAU | X-RAY DIFFRACTION | 1.8 |
| 8DMK | ELECTRON MICROSCOPY | 3.7 |
| 7CEC | ELECTRON MICROSCOPY | 3.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P07942-F1 | 76.99 | 0.13 |
Antibody-complex structures (SAbDab): 1 — 7CEC
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (5): 250, 1478, 1496, 1666, 1682
Disulfide bonds (54): 271–280, 273–298, 300–309, 312–332, 335–344, 337–362, 365–374, 377–395, 398–411, 400–426, 428–437, 440–455, 458–472, 460–479, 481–490, 493–507, 510–522, 512–529, 531–540, 773–785 …
Glycosylation sites (11): 120, 356, 519, 677, 1041, 1195, 1279, 1336, 1343, 1487, 1542
Function
Pathways and Gene Ontology
Reactome pathways
22 pathways
| ID | Pathway |
|---|---|
| R-HSA-1474228 | Degradation of the extracellular matrix |
| R-HSA-3000157 | Laminin interactions |
| R-HSA-3000171 | Non-integrin membrane-ECM interactions |
| R-HSA-3000178 | ECM proteoglycans |
| R-HSA-373760 | L1CAM interactions |
| R-HSA-381426 | Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) |
| R-HSA-8874081 | MET activates PTK2 signaling |
| R-HSA-8957275 | Post-translational protein phosphorylation |
| R-HSA-9619665 | EGR2 and SOX10-mediated initiation of Schwann cell myelination |
| R-HSA-9638630 | Attachment of bacteria to epithelial cells |
| R-HSA-9913351 | Formation of the dystrophin-glycoprotein complex (DGC) |
| R-HSA-9925563 | Developmental Lineage of Pancreatic Ductal Cells |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-1474244 | Extracellular matrix organization |
| R-HSA-162582 | Signal Transduction |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-422475 | Axon guidance |
| R-HSA-597592 | Post-translational protein modification |
| R-HSA-6806834 | Signaling by MET |
| R-HSA-8875878 | MET promotes cell motility |
| R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
| R-HSA-9675108 | Nervous system development |
MSigDB gene sets: 365 (showing top):
GOBP_NEUROMUSCULAR_JUNCTION_DEVELOPMENT, TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_DUCTAL_NORMAL_UP, MODULE_52, BENPORATH_ES_WITH_H3K27ME3, GOBP_FORMATION_OF_PRIMARY_GERM_LAYER, GOBP_POSITIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, MODULE_493, GNF2_PTX3, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_EXTRACELLULAR_MATRIX_ORGANIZATION, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_FOREBRAIN_CELL_MIGRATION, GOBP_CELL_CELL_ADHESION
GO Biological Process (20): cell adhesion (GO:0007155), negative regulation of cell adhesion (GO:0007162), signal transduction (GO:0007165), embryo implantation (GO:0007566), neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812), regulation of cell adhesion (GO:0030155), regulation of cell migration (GO:0030334), positive regulation of cell migration (GO:0030335), neuron projection development (GO:0031175), substrate adhesion-dependent cell spreading (GO:0034446), endodermal cell differentiation (GO:0035987), odontogenesis (GO:0042476), positive regulation of cell adhesion (GO:0045785), regulation of embryonic development (GO:0045995), positive regulation of epithelial cell proliferation (GO:0050679), positive regulation of muscle cell differentiation (GO:0051149), regulation of basement membrane organization (GO:0110011), positive regulation of integrin-mediated signaling pathway (GO:2001046), anatomical structure morphogenesis (GO:0009653), cell migration (GO:0016477)
GO Molecular Function (6): integrin binding (GO:0005178), structural molecule activity (GO:0005198), extracellular matrix structural constituent (GO:0005201), enzyme binding (GO:0019899), glycosphingolipid binding (GO:0043208), protein binding (GO:0005515)
GO Cellular Component (15): extracellular region (GO:0005576), basement membrane (GO:0005604), laminin-111 trimer (GO:0005606), laminin-211 trimer (GO:0005607), obsolete extracellular space (GO:0005615), nucleus (GO:0005634), endoplasmic reticulum lumen (GO:0005788), extracellular matrix (GO:0031012), laminin-411 trimer (GO:0043257), laminin-511 trimer (GO:0043259), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), protein complex involved in cell-matrix adhesion (GO:0098637), cytoplasm (GO:0005737), laminin trimer (GO:0043256)
Reactome top-level categories
Rollup of top-11 pathways:
| Category | Pathways |
|---|---|
| Extracellular matrix organization | 4 |
| Metabolism of proteins | 2 |
| Nervous system development | 2 |
| Axon guidance | 1 |
| MET promotes cell motility | 1 |
| Post-translational protein modification | 1 |
| Biofilm formation | 1 |
| Non-integrin membrane-ECM interactions | 1 |
| Developmental Cell Lineages of the Exocrine Pancreas | 1 |
| Signaling by Receptor Tyrosine Kinases | 1 |
| Signaling by MET | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| laminin trimer | 4 |
| cell adhesion | 3 |
| cellular anatomical structure | 3 |
| cellular process | 2 |
| regulation of cell adhesion | 2 |
| regulation of cellular process | 2 |
| cell migration | 2 |
| extracellular matrix | 2 |
| negative regulation of cellular process | 1 |
| cell communication | 1 |
| signaling | 1 |
| cellular response to stimulus | 1 |
| multicellular organism development | 1 |
| female pregnancy | 1 |
| reproductive process | 1 |
| cerebral cortex radial glia-guided migration | 1 |
| cell-cell adhesion | 1 |
| regulation of cell motility | 1 |
| regulation of cell migration | 1 |
| positive regulation of cell motility | 1 |
| neuron development | 1 |
| plasma membrane bounded cell projection organization | 1 |
| cell-substrate adhesion | 1 |
| endoderm formation | 1 |
| cell differentiation | 1 |
| animal organ morphogenesis | 1 |
| positive regulation of cellular process | 1 |
| embryo development | 1 |
| regulation of multicellular organismal development | 1 |
| positive regulation of cell population proliferation | 1 |
| epithelial cell proliferation | 1 |
| regulation of epithelial cell proliferation | 1 |
| muscle cell differentiation | 1 |
| positive regulation of cell differentiation | 1 |
| regulation of muscle cell differentiation | 1 |
| basement membrane organization | 1 |
| regulation of extracellular matrix organization | 1 |
| integrin-mediated signaling pathway | 1 |
| positive regulation of signal transduction | 1 |
| regulation of integrin-mediated signaling pathway | 1 |
Protein interactions and networks
STRING
1648 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LAMB1 | LAMC1 | P11047 | 973 |
| LAMB1 | LAMA4 | Q16363 | 920 |
| LAMB1 | LAMA1 | P25391 | 827 |
| LAMB1 | COL6A2 | P12110 | 818 |
| LAMB1 | COL6A1 | P12109 | 810 |
| LAMB1 | LAMA5 | O15230 | 781 |
| LAMB1 | COL4A1 | P02462 | 761 |
| LAMB1 | NID2 | Q14112 | 735 |
| LAMB1 | LAMA2 | P24043 | 732 |
| LAMB1 | NID1 | P14543 | 722 |
| LAMB1 | COL6A3 | P12111 | 695 |
| LAMB1 | COL1A1 | P02452 | 672 |
| LAMB1 | ITGB1 | P05556 | 636 |
| LAMB1 | COL12A1 | Q99715 | 634 |
| LAMB1 | COL5A2 | P05997 | 633 |
IntAct
139 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SERPINA12 | LAMB1 | psi-mi:“MI:0915”(physical association) | 0.710 |
| FAM9C | NDC80 | psi-mi:“MI:0914”(association) | 0.670 |
| BCAM | LAMA5 | psi-mi:“MI:0914”(association) | 0.640 |
| FBXO6 | MAN2B1 | psi-mi:“MI:0914”(association) | 0.640 |
| LAMB1 | UBQLN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LAMB1 | CD79A | psi-mi:“MI:0915”(physical association) | 0.560 |
| LAMB1 | GPR152 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PSG8 | PEX7 | psi-mi:“MI:0914”(association) | 0.530 |
| DEFA1 | MANBA | psi-mi:“MI:0914”(association) | 0.530 |
| OS9 | AGRN | psi-mi:“MI:0914”(association) | 0.530 |
| SERPINA12 | TSPAN6 | psi-mi:“MI:0914”(association) | 0.530 |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| CRP | QSOX1 | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS1 | PODXL | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS3 | PODXL | psi-mi:“MI:0914”(association) | 0.530 |
| COLEC12 | CSPG5 | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC11A | VWA8 | psi-mi:“MI:0914”(association) | 0.530 |
| PSG3 | MGRN1 | psi-mi:“MI:0914”(association) | 0.530 |
| ANGPTL4 | NMT2 | psi-mi:“MI:0914”(association) | 0.530 |
| PNLIPRP2 | TGFB1 | psi-mi:“MI:0914”(association) | 0.530 |
| LAMB1 | psi-mi:“MI:0915”(physical association) | 0.500 |
BioGRID (183): LAMB1 (Affinity Capture-MS), LAMB1 (Affinity Capture-MS), LAMB1 (Affinity Capture-MS), LAMB1 (Affinity Capture-MS), LAMB1 (Affinity Capture-MS), LAMB1 (Affinity Capture-MS), LAMB1 (Affinity Capture-MS), LAMB1 (Affinity Capture-MS), LAMB1 (Co-fractionation), LAMB1 (Affinity Capture-MS), LAMB1 (Two-hybrid), LAMB1 (Affinity Capture-MS), LAMB1 (Affinity Capture-MS), LAMB1 (Affinity Capture-MS), LAMB1 (Affinity Capture-MS)
ESM2 similar proteins: A4IGL7, D3ZB51, E9PZ19, O75882, O94779, O95970, P00533, P02469, P07942, P13590, P15209, P24503, P24786, P33150, P39038, P55245, P55283, P68500, P97300, P97527, P97546, Q01279, Q01973, Q03351, Q16288, Q16620, Q1EGL2, Q3B7N0, Q3UQ28, Q5IFJ9, Q5IS37, Q5IS82, Q5R945, Q63604, Q6IS24, Q6VNS1, Q7TPD3, Q7TT15, Q8K4Y5, Q8N475
Diamond homologs: A0A1D5PUP4, A0JP86, A2ASQ1, A3KN33, A5YT95, E9Q7X7, G4V4G1, G5ECE3, O00468, O00634, O09118, O15230, O62650, O75094, O75445, O88280, O94813, O95631, O95633, O95980, P02468, P02469, P07942, P0DKM7, P0DKM8, P0DKM9, P10184, P10669, P11046, P11047, P15215, P15800, P16895, P19883, P21674, P25304, P31514, P31515, P31696, P47931
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NANOG | “down-regulates quantity by repression” | LAMB1 | “transcriptional regulation” |
| LAMB1 | “form complex” | Laminin-8 | binding |
| LAMB1 | “form complex” | Laminin-10 | binding |
| LAMB1 | “form complex” | Laminin-1 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 146 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ERAD pathway | 7 | 10.2× | 2e-03 |
| positive regulation of cell migration | 10 | 5.0× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
1149 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 35 |
| Likely pathogenic | 17 |
| Uncertain significance | 575 |
| Likely benign | 330 |
| Benign | 117 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1323179 | NM_002291.3(LAMB1):c.1752_1756dup (p.Ala586fs) | Pathogenic |
| 1373852 | NM_002291.3(LAMB1):c.1729C>T (p.Gln577Ter) | Pathogenic |
| 1427340 | NM_002291.3(LAMB1):c.1189C>T (p.Arg397Ter) | Pathogenic |
| 1457754 | NC_000007.14:g.107963064del | Pathogenic |
| 1459180 | NC_000007.13:g.(?107635312)(107635425_?)del | Pathogenic |
| 1912497 | NM_002291.3(LAMB1):c.1897C>T (p.Arg633Ter) | Pathogenic |
| 2024680 | NM_002291.3(LAMB1):c.4477dup (p.Met1493fs) | Pathogenic |
| 2035710 | NM_002291.3(LAMB1):c.213+1del | Pathogenic |
| 2082451 | NM_002291.3(LAMB1):c.4861C>T (p.Gln1621Ter) | Pathogenic |
| 2097634 | NM_002291.3(LAMB1):c.1242T>A (p.Tyr414Ter) | Pathogenic |
| 2121433 | NM_002291.3(LAMB1):c.2633del (p.Pro878fs) | Pathogenic |
| 225687 | NM_002291.3(LAMB1):c.2931del (p.Gln977fs) | Pathogenic |
| 225688 | NM_002291.3(LAMB1):c.1442G>T (p.Cys481Phe) | Pathogenic |
| 2424386 | NC_000007.13:g.(?107603330)(107605152_?)del | Pathogenic |
| 2506519 | NM_002291.3(LAMB1):c.1526del (p.Pro509fs) | Pathogenic |
| 2682216 | NC_000007.13:g.(107626809_107635331)_(107635406_107638801)del | Pathogenic |
| 2726734 | NM_002291.3(LAMB1):c.1522C>T (p.Arg508Ter) | Pathogenic |
| 2898761 | NM_002291.3(LAMB1):c.3659_3660del (p.Val1220fs) | Pathogenic |
| 2985441 | NM_002291.3(LAMB1):c.3499C>T (p.Arg1167Ter) | Pathogenic |
| 3695454 | NM_002291.3(LAMB1):c.780T>G (p.Tyr260Ter) | Pathogenic |
| 3715156 | NM_002291.3(LAMB1):c.3877G>T (p.Glu1293Ter) | Pathogenic |
| 3907425 | NM_002291.3(LAMB1):c.5066_5072delCTTTAGA | Pathogenic |
| 42014 | NM_002291.3(LAMB1):c.3145_3158delinsCCAGTGCTTGTGTCTTCCTAATGTGCTTGTGTCTTCCTAAT (p.Lys1049_Gln1053delinsProValLeuValSerSerTer) | Pathogenic |
| 42015 | NM_002291.3(LAMB1):c.2109+1G>T | Pathogenic |
| 4531161 | NM_002291.3(LAMB1):c.5250_5253del (p.Asn1750fs) | Pathogenic |
| 4531163 | NM_002291.3(LAMB1):c.5123_5124delinsT (p.Lys1708fs) | Pathogenic |
| 4531164 | NM_002291.3(LAMB1):c.5161dup (p.Met1721fs) | Pathogenic |
| 4532054 | NM_002291.3(LAMB1):c.3803_3804dup (p.Val1269fs) | Pathogenic |
| 4533329 | C1182Y | Pathogenic |
| 4533330 | LAMB1, ASN788SER | Pathogenic |
SpliceAI
4791 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:107924088:C:CC | acceptor_gain | 1.0000 |
| 7:107924389:TC:T | acceptor_loss | 1.0000 |
| 7:107924390:C:CA | acceptor_loss | 1.0000 |
| 7:107924390:C:CC | acceptor_gain | 1.0000 |
| 7:107924399:C:CT | acceptor_gain | 1.0000 |
| 7:107924399:C:T | acceptor_gain | 1.0000 |
| 7:107924401:CATT:C | acceptor_gain | 1.0000 |
| 7:107924402:A:C | acceptor_gain | 1.0000 |
| 7:107924404:T:C | acceptor_gain | 1.0000 |
| 7:107924404:T:TC | acceptor_gain | 1.0000 |
| 7:107926179:GTACC:G | donor_loss | 1.0000 |
| 7:107926180:TA:T | donor_loss | 1.0000 |
| 7:107926181:A:AC | donor_gain | 1.0000 |
| 7:107926181:A:C | donor_loss | 1.0000 |
| 7:107926181:AC:A | donor_gain | 1.0000 |
| 7:107926182:C:CC | donor_gain | 1.0000 |
| 7:107926182:CC:C | donor_gain | 1.0000 |
| 7:107926182:CCTT:C | donor_gain | 1.0000 |
| 7:107926221:C:CT | donor_gain | 1.0000 |
| 7:107926222:T:TT | donor_gain | 1.0000 |
| 7:107926356:CAAT:C | acceptor_gain | 1.0000 |
| 7:107926360:C:CC | acceptor_gain | 1.0000 |
| 7:107926367:CA:C | acceptor_gain | 1.0000 |
| 7:107926368:A:C | acceptor_gain | 1.0000 |
| 7:107926381:A:T | acceptor_gain | 1.0000 |
| 7:107929058:GCCTA:G | donor_loss | 1.0000 |
| 7:107929059:CCTAC:C | donor_loss | 1.0000 |
| 7:107929060:CTACC:C | donor_loss | 1.0000 |
| 7:107929061:TA:T | donor_loss | 1.0000 |
| 7:107929062:A:AG | donor_loss | 1.0000 |
AlphaMissense
11846 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:107978084:C:A | W321C | 1.000 |
| 7:107978084:C:G | W321C | 1.000 |
| 7:107978120:A:C | C309W | 1.000 |
| 7:107978121:C:A | C309F | 1.000 |
| 7:107978121:C:G | C309S | 1.000 |
| 7:107978121:C:T | C309Y | 1.000 |
| 7:107978122:A:T | C309S | 1.000 |
| 7:107978148:C:G | C300S | 1.000 |
| 7:107978149:A:T | C300S | 1.000 |
| 7:107978153:G:C | C298W | 1.000 |
| 7:107978154:C:A | C298F | 1.000 |
| 7:107978154:C:G | C298S | 1.000 |
| 7:107978154:C:T | C298Y | 1.000 |
| 7:107978155:A:G | C298R | 1.000 |
| 7:107978155:A:T | C298S | 1.000 |
| 7:107980648:A:C | C280W | 1.000 |
| 7:107980649:C:G | C280S | 1.000 |
| 7:107980650:A:G | C280R | 1.000 |
| 7:107980650:A:T | C280S | 1.000 |
| 7:107980669:G:C | C273W | 1.000 |
| 7:107980670:C:A | C273F | 1.000 |
| 7:107980670:C:G | C273S | 1.000 |
| 7:107980670:C:T | C273Y | 1.000 |
| 7:107980671:A:G | C273R | 1.000 |
| 7:107980671:A:T | C273S | 1.000 |
| 7:107980675:G:C | C271W | 1.000 |
| 7:107980676:C:A | C271F | 1.000 |
| 7:107980676:C:G | C271S | 1.000 |
| 7:107980676:C:T | C271Y | 1.000 |
| 7:107980677:A:G | C271R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000027723 (7:107965988 C>T), RS1000052936 (7:107966969 G>C), RS1000077951 (7:107980422 T>A), RS1000082733 (7:107927324 C>T), RS1000143315 (7:107941873 C>A,T), RS1000277351 (7:107962408 G>A), RS1000416016 (7:107956117 G>A,C,T), RS1000510058 (7:107924523 A>T), RS1000569984 (7:108003016 G>C), RS1000600973 (7:108003219 T>C,G), RS1000617846 (7:107969976 G>A), RS1000626882 (7:107965098 C>T), RS1000652058 (7:107943659 G>T), RS1000660324 (7:107943429 A>G,T), RS1000755259 (7:107970251 C>A)
Disease associations
OMIM: gene MIM:150240 | disease phenotypes: MIM:615191, MIM:312080, MIM:621424
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| cobblestone lissencephaly without muscular or ocular involvement | Strong | Autosomal recessive |
| leukodystrophy | Strong | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| cobblestone lissencephaly without muscular or ocular involvement | Moderate | AR |
Mondo (7): cobblestone lissencephaly without muscular or ocular involvement (MONDO:0014077), leukodystrophy (MONDO:0019046), leukoencephalopathy without lacunae, adult-onset (MONDO:0980752), classic lissencephaly (MONDO:0015146), multiple sclerosis (MONDO:0005301), intellectual disability (MONDO:0001071), autism spectrum disorder (MONDO:0005258)
Orphanet (6): Cobblestone lissencephaly without muscular or ocular involvement (Orphanet:352682), Leukodystrophy (Orphanet:68356), Classic lissencephaly (Orphanet:102009), NON RARE IN EUROPE: Multiple sclerosis (Orphanet:802), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658), NON RARE IN EUROPE: Autism (Orphanet:106)
HPO phenotypes
63 total (30 of 63 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000238 | Hydrocephalus |
| HP:0000256 | Macrocephaly |
| HP:0000365 | Hearing impairment |
| HP:0000518 | Cataract |
| HP:0000648 | Optic atrophy |
| HP:0000716 | Depression |
| HP:0000726 | Dementia |
| HP:0000741 | Apathy |
| HP:0000757 | Lack of insight |
| HP:0000819 | Diabetes mellitus |
| HP:0000822 | Hypertension |
| HP:0001095 | Hypertensive retinopathy |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001258 | Spastic paraplegia |
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
| HP:0001270 | Motor delay |
| HP:0001288 | Gait disturbance |
| HP:0001289 | Confusion |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001342 | Cerebral hemorrhage |
| HP:0002059 | Cerebral atrophy |
| HP:0002077 | Migraine with aura |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002080 | Intention tremor |
GWAS associations
38 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000311_10 | Ulcerative colitis | 7.000000e-06 |
| GCST000311_5 | Ulcerative colitis | 1.000000e-06 |
| GCST000311_6 | Ulcerative colitis | 9.000000e-06 |
| GCST000527_4 | Ulcerative colitis | 3.000000e-08 |
| GCST000624_19 | Ulcerative colitis | 8.000000e-08 |
| GCST001848_239 | IgG glycosylation | 2.000000e-06 |
| GCST001848_355 | IgG glycosylation | 2.000000e-07 |
| GCST001848_363 | IgG glycosylation | 8.000000e-06 |
| GCST001848_71 | IgG glycosylation | 1.000000e-08 |
| GCST002515_2 | Pneumoconiosis in silica exposure | 4.000000e-06 |
| GCST004131_45 | Inflammatory bowel disease | 8.000000e-16 |
| GCST004133_10 | Ulcerative colitis | 9.000000e-21 |
| GCST007859_2 | Rapid automatized naming and rapid alternating stimulus test performance | 9.000000e-07 |
| GCST007860_5 | Latent naming speed | 7.000000e-07 |
| GCST007863_3 | Rapid alternating stimulus test for letters/numbers | 2.000000e-06 |
| GCST007864_1 | Rapid automatized naming of letters | 2.000000e-07 |
| GCST012228_315 | Waist-hip index | 3.000000e-10 |
| GCST012230_477 | Waist-to-hip ratio adjusted for BMI | 4.000000e-10 |
| GCST90020024_109 | A body shape index | 2.000000e-08 |
| GCST90020024_110 | A body shape index | 3.000000e-09 |
| GCST90020024_111 | A body shape index | 8.000000e-09 |
| GCST90020024_112 | A body shape index | 2.000000e-12 |
| GCST90020024_113 | A body shape index | 2.000000e-12 |
| GCST90020025_360 | Waist-to-hip ratio adjusted for BMI | 5.000000e-09 |
| GCST90020025_361 | Waist-to-hip ratio adjusted for BMI | 3.000000e-09 |
| GCST90020025_362 | Waist-to-hip ratio adjusted for BMI | 3.000000e-11 |
| GCST90020025_363 | Waist-to-hip ratio adjusted for BMI | 7.000000e-10 |
| GCST90020025_364 | Waist-to-hip ratio adjusted for BMI | 3.000000e-08 |
| GCST90020027_1317 | Waist-hip index | 2.000000e-09 |
| GCST90020027_1318 | Waist-hip index | 3.000000e-09 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005193 | serum IgG glycosylation measurement |
| EFO:0005301 | reading and spelling ability |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0007789 | BMI-adjusted waist circumference |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| D009103 | Multiple Sclerosis | C10.114.375.500; C10.314.350.500; C20.111.258.250.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL2364187 (PROTEIN COMPLEX GROUP), CHEMBL4742270 (PROTEIN-PROTEIN INTERACTION)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
90 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases expression, affects cotreatment, increases methylation | 4 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 4 |
| Tobacco Smoke Pollution | affects expression, decreases expression | 4 |
| bisphenol S | affects expression, decreases expression, increases expression | 3 |
| Acetaminophen | decreases expression | 3 |
| Tetrachlorodibenzodioxin | decreases expression | 3 |
| Cadmium Chloride | increases abundance, increases palmitoylation, decreases expression, decreases reaction | 3 |
| Air Pollutants | affects cotreatment, decreases expression, increases abundance | 2 |
| Arsenic | affects methylation, affects cotreatment, decreases expression, increases abundance | 2 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 2 |
| Tretinoin | increases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| bis(tri-n-butyltin)oxide | decreases expression | 1 |
| deoxynivalenol | decreases expression | 1 |
| lead acetate | decreases expression | 1 |
| 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid | affects methylation, increases abundance | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| ochratoxin A | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| methylmercury II | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chloropicrin | decreases expression | 1 |
| K 7174 | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4713770 | Binding | Protac activity at CRBN/LAMB1 in human BxPC-3 cells assessed as LAMB1 degradation incubated for 16 hrs by proteomic analysis | Discovery of a Napabucasin PROTAC as an Effective Degrader of the E3 Ligase ZFP91. — J Med Chem |
Cellosaurus cell lines
6 cell lines: 5 transformed cell line, 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1VI | Abcam HeLa LAMB1 KO | Cancer cell line | Female |
| CVCL_D9IA | Ubigene HEK293 LAMB1 KO | Transformed cell line | Female |
| CVCL_RY69 | HEK293 rLN10 | Transformed cell line | Female |
| CVCL_RY70 | HEK293 rLN10_hNid1 | Transformed cell line | Female |
| CVCL_RY71 | HEK293 rLN8 | Transformed cell line | Female |
| CVCL_VN83 | HEK293 rLN10_hEcad | Transformed cell line | Female |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00037102 | PHASE4 | COMPLETED | Combination Therapy With Avonex and BiMonthly High Dose Intravenous Methotrexate in Multiple Sclerosis |
| NCT00037115 | PHASE4 | WITHDRAWN | Induction Therapy With a Single High Dose Bolus of Intravenous Methotrexate With Leucovorin Rescue, Prior to Initiation of AVONEX® Treatment, in Patients Presenting With a First Acute Demyelinating Event. |
| NCT00146068 | PHASE4 | COMPLETED | EARLY IFNB-1a and Simvastatin Combination Therapy in Clinically Isolated Syndrome Suggestive of Multiple Sclerosis |
| NCT00151294 | PHASE4 | TERMINATED | The Efficacy and Safety of Escitalopram for Depression in Multiple Sclerosis |
| NCT00176592 | PHASE4 | COMPLETED | Phase IV Study, Betaseron Versus Copaxone for Relapsing Remitting or CIS Forms of MS Using Triple Dose Gad 3 T MRI |
| NCT00179478 | PHASE4 | COMPLETED | Long Term Study of Avonex Therapy Following a First Attack of Multiple Sclerosis |
| NCT00220922 | PHASE4 | COMPLETED | A Study to Evaluate the Impact on Skin (Injection Site) Reactions of Using Alcohol Wipes Prior to Daily Injections of Copaxone®. |
| NCT00239993 | PHASE4 | COMPLETED | A Study to Evaluate the Impact of Using Warm Compress Prior to Daily Injections of Copaxone® |
| NCT00240006 | PHASE4 | COMPLETED | A Study Comparing Shared Solutions® Plus MS Center Support Versus Shared Solutions® Alone |
| NCT00240032 | PHASE4 | COMPLETED | A Study to Evaluate the Impact on Skin (Injection Site) Reactions of Taking an Antihistamine (Zyrtec®) or Placebo Prior to Daily Injections of Copaxone®. |
| NCT00246324 | PHASE4 | COMPLETED | Safety and Efficacy Study of Doxycycline in Combination With Interferon-B-1a to Treat Multiple Sclerosis |
| NCT00267319 | PHASE4 | COMPLETED | FOCUS Fatigue Outcome in Copaxone USers |
| NCT00381264 | PHASE4 | COMPLETED | Evaluation of the Efficacy of Cesamet™ for the Treatment of Pain in Patients With Multiple Sclerosis |
| NCT00414453 | PHASE4 | TERMINATED | Trial of Analgesia With Lidocaine or Extended-release Oxycodone for Neuropathic Pain Treatment in Multiple Sclerosis |
| NCT00423527 | PHASE4 | COMPLETED | Levetiracetam in Central Pain in Multiple Sclerosis(MS) |
| NCT00480181 | PHASE4 | COMPLETED | Efficacy and Safety Evaluation of Nabilone as Adjunctive Therapy to Gabapentin for the Management of Neuropathic Pain in Multiple Sclerosis |
| NCT00492765 | PHASE4 | COMPLETED | Simvastatin as an Add-on Treatment to Interferon-beta-1a for the Treatment of Relapsing-Remitting Multiple Sclerosis |
| NCT00493077 | PHASE4 | COMPLETED | Safety of Avonex Treatment in Multiple Sclerosis Patients With Neutralizing Antibodies to Interferon Beta Therapy |
| NCT00536120 | PHASE4 | COMPLETED | The Effects of Tysabri Treatment on Vaccination Response and Lymphocyte Subsets in Subjects With Relapsing Forms of Multiple Sclerosis |
| NCT00629642 | PHASE4 | COMPLETED | Clinical Study of Solifenacin Succinate in Patients With Bladder Symptoms Due to Spinal Cord Injury or Multiple Sclerosis |
| NCT00638027 | PHASE4 | COMPLETED | Memantine for Spasticity in MS Patients |
| NCT00744679 | PHASE4 | COMPLETED | A Pharmacokinetic (PK) Study of Natalizumab (Tysabri) at Steady State |
| NCT00752778 | PHASE4 | TERMINATED | Magnetic Resonance Imaging (MRI) Follow-up of Macrophagic Infiltration in MS Patients Treated With Tysabri |
| NCT00753792 | PHASE4 | COMPLETED | Oral Corticotherapy in Megadoses to Treat Multiple Sclerosis During Relapse |
| NCT00854750 | PHASE4 | TERMINATED | Modeling and Treating the Pathophysiology of Demyelination in Multiple Sclerosis |
| NCT00881205 | PHASE4 | TERMINATED | Rivastigmine in Multiple Sclerosis Patients With Cognitive Impairment |
| NCT00910598 | PHASE4 | UNKNOWN | Optical Coherence Tomography: Glatiramer in Clinically Isolated Syndrome or Early Relapsing Remitting Multiple Sclerosis (MS) |
| NCT00913666 | PHASE4 | COMPLETED | Pharmacodynamic Study to Better Understand the Therapeutic Response and Immunomodulatory Effects of Avonex in Multiple Sclerosis (MS) Patients and Healthy Volunteers |
| NCT00915460 | PHASE4 | COMPLETED | Open-Label Safety Extension Study of Avonex |
| NCT00942214 | PHASE4 | COMPLETED | Biomarkers and Response to Natalizumab for Multiple Sclerosis Treatment |
| NCT00988988 | PHASE4 | WITHDRAWN | The Effects of Ethyl-Alpha-Guanido-Methyl Ethanoate on Skin Reactions From Glatiramer Acetate Injections |
| NCT01005095 | PHASE4 | TERMINATED | The Effects of Interferon Beta Combined With Vitamin D on Relapsing Remitting Multiple Sclerosis Patients |
| NCT01034579 | PHASE4 | COMPLETED | The REbif® vs Glatiramer Acetate in Relapsing Multiple Sclerosis Pharmacogenetics Trial |
| NCT01085318 | PHASE4 | COMPLETED | Rebif Advanced Magnetic Resonance Imaging (MRI) and Immunology Pilot Trial |
| NCT01236534 | PHASE4 | COMPLETED | Lubiprostone in Patients With Multiple Sclerosis Associated Constipation |
| NCT01333501 | PHASE4 | COMPLETED | Fingolimod Versus Interferon Beta 1b in Cognitive Symptoms |
| NCT01339676 | PHASE4 | UNKNOWN | Colecalciferol as an Add-on Treatment to Interferon-beta-1b for Treatment of Multiple Sclerosis (MS) |
| NCT01356940 | PHASE4 | COMPLETED | A Placebo Controlled Trial of Dalfampridine ER for Ambulatory Activity in People With Multiple Sclerosis |
| NCT01395316 | PHASE4 | COMPLETED | Alemtuzumab on Surrogate Markers of Disease Activity and Repair Using Advanced MRI Measures in Subjects With Relapsing Remitting Multiple Sclerosis |
| NCT01411514 | PHASE4 | TERMINATED | Oral Prednisone Taper Versus Placebo for the Treatment of Acute Relapses in Multiple Sclerosis |
Related Atlas pages
- Associated diseases: cobblestone lissencephaly without muscular or ocular involvement, leukodystrophy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): classic lissencephaly, cobblestone lissencephaly without muscular or ocular involvement, leukodystrophy, leukoencephalopathy without lacunae, adult-onset, pneumoconiosis