LRWD1
gene geneOn this page
Also known as DKFZp434K1815ORCACENP-33
Summary
LRWD1 (leucine rich repeats and WD repeat domain containing 1, HGNC:21769) is a protein-coding gene on chromosome 7q22.1, encoding Leucine-rich repeat and WD repeat-containing protein 1 (Q9UFC0). Required for G1/S transition.
The protein encoded by this gene interacts with components of the origin recognition complex (ORC) and regulates the formation of the prereplicative complex. The encoded protein stabilizes the ORC and therefore aids in DNA replication. This protein is required for the G1/S phase transition of the cell cycle. In addition, the encoded protein binds to trimethylated histone H3 in heterochromatin and recruits the ORC and lysine methyltransferases, which help maintain the repressive heterochromatic state. Two transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 222229 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 143 total
- Druggable target: yes
- MANE Select transcript:
NM_152892
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21769 |
| Approved symbol | LRWD1 |
| Name | leucine rich repeats and WD repeat domain containing 1 |
| Location | 7q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp434K1815, ORCA, CENP-33 |
| Ensembl gene | ENSG00000161036 |
| Ensembl biotype | protein_coding |
| OMIM | 615167 |
| Entrez | 222229 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 13 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron
ENST00000292616, ENST00000463739, ENST00000464107, ENST00000468175, ENST00000473880, ENST00000476270, ENST00000485417, ENST00000485808, ENST00000626402, ENST00000896258, ENST00000896259, ENST00000896260, ENST00000896261, ENST00000896262, ENST00000896263, ENST00000922655, ENST00000922656, ENST00000965088
RefSeq mRNA: 2 — MANE Select: NM_152892
NM_001317721, NM_152892
CCDS: CCDS34715
Canonical transcript exons
ENST00000292616 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001056068 | 102472218 | 102472309 |
| ENSE00001056070 | 102469742 | 102469882 |
| ENSE00001056077 | 102472454 | 102472609 |
| ENSE00001056079 | 102468554 | 102468654 |
| ENSE00001056082 | 102468855 | 102469062 |
| ENSE00001133591 | 102472909 | 102473168 |
| ENSE00001133598 | 102464984 | 102465160 |
| ENSE00003455861 | 102472692 | 102472804 |
| ENSE00003461283 | 102469574 | 102469646 |
| ENSE00003500614 | 102466154 | 102466270 |
| ENSE00003510614 | 102465817 | 102466051 |
| ENSE00003621584 | 102467339 | 102467479 |
| ENSE00003669752 | 102468062 | 102468187 |
| ENSE00003670699 | 102467719 | 102467823 |
| ENSE00003789422 | 102468263 | 102468377 |
Expression profiles
Bgee: expression breadth ubiquitous, 235 present calls, max score 99.15.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.3848 / max 802.4802, expressed in 1794 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 80256 | 19.3848 | 1794 |
Top tissues by expression
248 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 99.15 | gold quality |
| right testis | UBERON:0004534 | 99.01 | gold quality |
| testis | UBERON:0000473 | 96.76 | gold quality |
| adult organism | UBERON:0007023 | 95.19 | gold quality |
| right uterine tube | UBERON:0001302 | 92.93 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 92.47 | silver quality |
| cerebellar vermis | UBERON:0004720 | 91.94 | gold quality |
| cortical plate | UBERON:0005343 | 90.99 | gold quality |
| oocyte | CL:0000023 | 90.55 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.41 | gold quality |
| cerebellar cortex | UBERON:0002129 | 90.02 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.02 | gold quality |
| cerebellum | UBERON:0002037 | 89.80 | gold quality |
| bronchial epithelial cell | CL:0002328 | 89.39 | gold quality |
| vena cava | UBERON:0004087 | 89.27 | silver quality |
| bronchus | UBERON:0002185 | 89.24 | gold quality |
| parotid gland | UBERON:0001831 | 89.05 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.80 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 88.71 | gold quality |
| blood | UBERON:0000178 | 88.57 | gold quality |
| sperm | CL:0000019 | 88.55 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 88.20 | gold quality |
| spleen | UBERON:0002106 | 87.93 | gold quality |
| granulocyte | CL:0000094 | 87.90 | gold quality |
| secondary oocyte | CL:0000655 | 87.67 | gold quality |
| right adrenal gland | UBERON:0001233 | 87.27 | gold quality |
| pituitary gland | UBERON:0000007 | 87.25 | gold quality |
| kidney epithelium | UBERON:0004819 | 87.23 | gold quality |
| left adrenal gland | UBERON:0001234 | 86.92 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 86.92 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-134144 | yes | 1915.71 |
| E-ANND-3 | yes | 5.98 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NFKB
miRNA regulators (miRDB)
6 targeting LRWD1, 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-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-4427 | 99.34 | 70.33 | 1854 |
| HSA-MIR-3121-5P | 97.30 | 66.62 | 1146 |
| HSA-MIR-6075 | 93.03 | 64.73 | 45 |
Literature-anchored findings (GeneRIF, showing 12)
- Results suggest ORCA-mediated association of ORC to chromatin is critical to initiate preRC assembly in G1 and chromatin organization in post-G1 cells. (PMID:20932478)
- Leucine-rich repeat and WD repeat-containing protein 1 is recruited to pericentric heterochromatin by trimethylated lysine 9 of histone H3 and maintains heterochromatin silencing (PMID:22427655)
- propose that the dynamic association of ORCA with pre-RC components modulates the assembly of its interacting partners on chromatin and facilitates DNA replication initiation (PMID:22645314)
- Orc2 protects ORCA from ubiquitin-mediated degradation in vivo. (PMID:22935713)
- This is the first study showing that the expression of the testis-enriched LRWD1 gene is regulated by NF-kappaB. (PMID:23275029)
- three coding single-nucleotide polymorphisms (SNP1-SNP3) could be detected in Japanese patients with Sertoli cell-only syndrome (PMID:23445371)
- Data (from studies using recombinant proteins) suggest that deletion of leucine rich (LRR) domain significantly down-regulates expression of LRWD1 protein; LRR domain is significantly correlated with stability of LRWD1 protein. (PMID:25170821)
- Data show that ORCA acts as a scaffold for the establishment of H3K9 KMT complex. (PMID:25922909)
- LRWD1 is a novel regulator of EWS-FLI1 driven cell proliferation in Ewing sarcoma cells. EWS-FLI1 regulates LRWD1 expression and LRWD1 may contribute to EWS-FLI1 mediated transcriptional repression. (PMID:27760381)
- a novel function of LRWD1 in controlling microtubule nucleation and cell cycle progression in the human testicular embryonic carcinoma cells. (PMID:28569402)
- Nuclear factor erythroid-2-related factor regulates LRWD1 expression and cellular adaptation to oxidative stress in human embryonal carcinoma cells (PMID:29544732)
- MicroRNA-320a enhances LRWD1 expression through the AGO2/FXR1-dependent pathway to affect cell behaviors and the oxidative stress response in human testicular embryonic carcinoma cells. (PMID:38385979)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lrwd1 | ENSDARG00000035147 |
| mus_musculus | Lrwd1 | ENSMUSG00000029703 |
| rattus_norvegicus | Lrwd1 | ENSRNOG00000001429 |
| caenorhabditis_elegans | WBGENE00019351 |
Paralogs (1): OPTC (ENSG00000188770)
Protein
Protein identifiers
Leucine-rich repeat and WD repeat-containing protein 1 — Q9UFC0 (reviewed: Q9UFC0)
Alternative names: Centromere protein 33, Origin recognition complex-associated protein
All UniProt accessions (7): Q9UFC0, A0A140VJD0, F8WBP5, F8WDB4, H7C4Q9, H7C5N7, H7C5S6
UniProt curated annotations — full annotation on UniProt →
Function. Required for G1/S transition. Recruits and stabilizes the origin recognition complex (ORC) onto chromatin during G1 to establish pre-replication complex (preRC) and to heterochromatic sites in post-replicated cells. Binds a combination of DNA and histone methylation repressive marks on heterochromatin. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3 in a cooperative manner with DNA methylation. Required for silencing of major satellite repeats. May be important ORC2, ORC3 and ORC4 stability.
Subunit / interactions. Integral component of the ORC complex. Directly interacts with CDT1, GMNN and ORC2. Interacts with ORC2 only when non-ubiquitinated; this interaction prevents LRWD1 ubiquitination and degradation. Some of these interactions are regulated in a cell-cycle dependent manner. Interaction with ORC1 occurs predominantly during G1. Association with phosphorylated ORC1 during mitosis is not efficient. Interaction with CDT1 occurs during G1 phase, as well as during mitosis with phosphorylated CDT1. Interaction with GMNN occurs from G1/S to mitosis. Interaction with ORC2 is observed throughout the cell cycle. The stoichiometry of the ORCA/ORC/CDT1/GMNN complex is 1:1:1:2. Interacts with CUL4A and DDB1; this interaction may lead to ubiquitination.
Subcellular location. Nucleus. Chromosome. Centromere. Telomere. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Kinetochore.
Tissue specificity. Testis-specific. Drastically down-regulated in testis from patients with Sertoli cell-only syndrome (SCOS).
Post-translational modifications. Ubiquitinated; undergoes ‘Lys-48’-linked polyubiquitination leading to proteasomal degradation. Ubiquitination occurs within the WD repeats at the end of the G1 phase. Ubiquitination may be catalyzed by the CUL4-DDB1 E3 ubiquitin-protein ligase complex and other E3 ligases.
Domain organisation. The entire WD repeat region is required for the interaction with ORC, CDT1 and GMNN, as well as for association with chromatin and for binding to histone H3 and H4 trimethylation marks H3K9me3 and H4K20me3.
Similarity. Belongs to the LRWD1 family.
RefSeq proteins (2): NP_001304650, NP_690852* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR001680 | WD40_rpt | Repeat |
| IPR003591 | Leu-rich_rpt_typical-subtyp | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR052489 | LRWD1 | Family |
| IPR056160 | WD_LRWD1 | Domain |
| IPR056363 | LRR_LRWD1_dom | Domain |
Pfam: PF23211, PF23215
UniProt features (19 total): repeat 11, modified residue 5, chain 1, region of interest 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UFC0-F1 | 84.15 | 0.61 |
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): 212, 243, 251, 259, 264
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 136 (showing top):
RRAGTTGT_UNKNOWN, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_CHROMOSOME, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOCC_CENTROSOME, GOBP_DNA_REPLICATION, ACTWSNACTNY_UNKNOWN, GOMF_CHROMATIN_BINDING, GOCC_CHROMOSOMAL_REGION, GOCC_PERICENTRIC_HETEROCHROMATIN, GOCC_CONDENSED_CHROMOSOME_CENTROMERIC_REGION, GOCC_HETEROCHROMATIN, GOCC_CHROMOSOME_TELOMERIC_REGION, GOCC_NUCLEOLUS
GO Biological Process (4): DNA replication initiation (GO:0006270), chromatin organization (GO:0006325), establishment of protein localization to chromatin (GO:0071169), DNA replication (GO:0006260)
GO Molecular Function (4): chromatin binding (GO:0003682), methyl-CpG binding (GO:0008327), histone H3K27me3 reader activity (GO:0061628), protein binding (GO:0005515)
GO Cellular Component (12): kinetochore (GO:0000776), chromosome, telomeric region (GO:0000781), nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear origin of replication recognition complex (GO:0005664), pericentric heterochromatin (GO:0005721), nucleolus (GO:0005730), centrosome (GO:0005813), chromosome, centromeric region (GO:0000775), chromosome (GO:0005694), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membraneless organelle | 4 |
| DNA metabolic process | 2 |
| binding | 2 |
| chromosomal region | 2 |
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| DNA-templated DNA replication | 1 |
| cellular component organization | 1 |
| establishment of protein localization to chromosome | 1 |
| DNA biosynthetic process | 1 |
| nucleotide binding | 1 |
| sequence-specific DNA binding | 1 |
| histone H3 reader activity | 1 |
| condensed chromosome, centromeric region | 1 |
| supramolecular complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear chromosome | 1 |
| origin recognition complex | 1 |
| nuclear protein-containing complex | 1 |
| chromosome, centromeric region | 1 |
| heterochromatin | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1092 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LRWD1 | ORC3 | Q9UBD5 | 732 |
| LRWD1 | CDT1 | Q9H211 | 703 |
| LRWD1 | ORC4 | O43929 | 685 |
| LRWD1 | ORC5 | O43913 | 683 |
| LRWD1 | TICRR | Q7Z2Z1 | 562 |
| LRWD1 | CLBA1 | Q96F83 | 541 |
| LRWD1 | ORC2 | Q13416 | 525 |
| LRWD1 | OBI1 | Q5W0B1 | 518 |
| LRWD1 | KMT5A | Q9NQR1 | 509 |
| LRWD1 | ASPH | Q12797 | 506 |
| LRWD1 | VWA5B2 | Q8N398 | 483 |
| LRWD1 | ORC6 | Q9Y5N6 | 436 |
| LRWD1 | NAP1L4 | Q99733 | 433 |
| LRWD1 | PHIP | Q8WWQ0 | 422 |
| LRWD1 | KIF9 | Q9HAQ2 | 421 |
IntAct
51 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ORC2 | ORC5 | psi-mi:“MI:0914”(association) | 0.810 |
| DNAJC7 | PLD2 | psi-mi:“MI:0914”(association) | 0.640 |
| RPGR | NPHP1 | psi-mi:“MI:0914”(association) | 0.560 |
| STN1 | SMCO3 | psi-mi:“MI:0914”(association) | 0.530 |
| ORC6 | DCTN6 | psi-mi:“MI:0914”(association) | 0.530 |
| H3C1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.410 |
| Orc1 | ORC5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LRWD1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| LRWD1 | NUDC | psi-mi:“MI:0915”(physical association) | 0.400 |
| Cbx1 | psi-mi:“MI:0914”(association) | 0.350 | |
| Orc2 | FAM210A | psi-mi:“MI:0914”(association) | 0.350 |
| MPHOSPH8 | HCFC1 | psi-mi:“MI:0914”(association) | 0.350 |
| LRWD1 | ORC5 | psi-mi:“MI:0914”(association) | 0.350 |
| ORC1 | ZNF768 | psi-mi:“MI:0914”(association) | 0.350 |
| FOXB1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| FOXE1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| FOXG1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| FOXM1 | SMARCA5 | psi-mi:“MI:0914”(association) | 0.350 |
| FOXQ1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| FOXS1 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| TEAD2 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| LYPD4 | DPYSL4 | psi-mi:“MI:0914”(association) | 0.350 |
| RPGR | NPHP1 | psi-mi:“MI:0914”(association) | 0.350 |
| RNF126 | CAPN15 | psi-mi:“MI:0914”(association) | 0.350 |
| ENG | IGKV2-28 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (171): LRWD1 (Protein-peptide), LRWD1 (Protein-peptide), LRWD1 (Affinity Capture-MS), LRWD1 (Affinity Capture-MS), LRWD1 (Affinity Capture-MS), LRWD1 (Affinity Capture-MS), LRWD1 (Affinity Capture-MS), LRWD1 (Affinity Capture-MS), LRWD1 (Affinity Capture-MS), LRWD1 (Affinity Capture-MS), LRWD1 (Affinity Capture-MS), LRWD1 (Co-fractionation), LRWD1 (Co-fractionation), LRWD1 (Affinity Capture-MS), ADD1 (Affinity Capture-MS)
ESM2 similar proteins: A0JMH2, A1L251, A2ARP1, A7Z050, D3ZEY4, E7FCP8, E9QAM5, O00562, O35954, O42412, O95822, P0C644, P0C7A1, P12617, P16386, P40935, P49898, P49899, P52824, P53370, P54310, P70563, Q17QN2, Q2KI24, Q3URQ7, Q499U8, Q5EU90, Q5I0I8, Q5RAR6, Q5RDF1, Q5TGY1, Q5U2N3, Q5XIL6, Q68J42, Q6P5E8, Q6PD24, Q6PFW1, Q80YU0, Q8BX80, Q8CH40
Diamond homologs: B0JZ65, B0R160, Q6GM71, Q8BUI3, Q9UFC0, E3LB80, O16023, O43071, O75530, Q24338, Q26458, Q28DT7, Q2KJJ5, Q3SZ25, Q54JS5, Q54QU5, Q566T0, Q5I0B9, Q5U2W5, Q5ZKH3, Q676U5, Q6AZS2, Q6ZJW8, Q6ZJX0, Q756D0, Q7KWL3, Q8C4J7, Q8UUP2, Q8VZY6, Q8VZY7, Q921E6, Q9CWU9, Q9LT47, Q9NV06, U4PCM1, O22468, O60508, Q498F0, Q5JSH3, Q6NVE8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 67 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.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Assembly of the ORC complex at the origin of replication | 6 | 22.6× | 2e-05 |
| Orc1 removal from chromatin | 5 | 20.3× | 3e-04 |
| Assembly of the pre-replicative complex | 5 | 15.8× | 6e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
143 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 118 |
| Likely benign | 7 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2677 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:102465143:G:GT | donor_gain | 1.0000 |
| 7:102465143:G:T | donor_gain | 1.0000 |
| 7:102465158:G:GT | donor_gain | 1.0000 |
| 7:102465158:GGA:G | donor_gain | 1.0000 |
| 7:102465159:GA:G | donor_gain | 1.0000 |
| 7:102465159:GAG:G | donor_gain | 1.0000 |
| 7:102465161:G:GG | donor_gain | 1.0000 |
| 7:102465815:A:AG | acceptor_gain | 1.0000 |
| 7:102465815:AGCCT:A | acceptor_gain | 1.0000 |
| 7:102465816:G:GA | acceptor_gain | 1.0000 |
| 7:102465816:GC:G | acceptor_gain | 1.0000 |
| 7:102465816:GCC:G | acceptor_gain | 1.0000 |
| 7:102465816:GCCT:G | acceptor_gain | 1.0000 |
| 7:102465816:GCCTG:G | acceptor_gain | 1.0000 |
| 7:102466047:TGACG:T | donor_gain | 1.0000 |
| 7:102466048:GACG:G | donor_gain | 1.0000 |
| 7:102466048:GACGG:G | donor_gain | 1.0000 |
| 7:102466049:ACG:A | donor_gain | 1.0000 |
| 7:102466050:CG:C | donor_gain | 1.0000 |
| 7:102466050:CGGTA:C | donor_loss | 1.0000 |
| 7:102466051:GG:G | donor_gain | 1.0000 |
| 7:102466052:G:GG | donor_gain | 1.0000 |
| 7:102466052:GT:G | donor_loss | 1.0000 |
| 7:102466149:CCCA:C | acceptor_loss | 1.0000 |
| 7:102466150:CCAG:C | acceptor_loss | 1.0000 |
| 7:102466151:CAG:C | acceptor_loss | 1.0000 |
| 7:102466152:A:AC | acceptor_loss | 1.0000 |
| 7:102466152:A:AG | acceptor_gain | 1.0000 |
| 7:102466153:G:GG | acceptor_gain | 1.0000 |
| 7:102466153:G:GT | acceptor_loss | 1.0000 |
AlphaMissense
4179 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:102468346:G:C | W296C | 0.998 |
| 7:102468346:G:T | W296C | 0.998 |
| 7:102468575:C:A | A314D | 0.998 |
| 7:102468873:T:A | W347R | 0.998 |
| 7:102468873:T:C | W347R | 0.998 |
| 7:102468344:T:A | W296R | 0.997 |
| 7:102468344:T:C | W296R | 0.997 |
| 7:102469057:T:C | L408P | 0.997 |
| 7:102469603:T:A | W420R | 0.997 |
| 7:102469603:T:C | W420R | 0.997 |
| 7:102472564:T:A | W549R | 0.997 |
| 7:102472564:T:C | W549R | 0.997 |
| 7:102468955:T:A | V374D | 0.996 |
| 7:102472489:T:A | W524R | 0.996 |
| 7:102472489:T:C | W524R | 0.996 |
| 7:102468356:T:C | F300L | 0.995 |
| 7:102468358:C:A | F300L | 0.995 |
| 7:102468358:C:G | F300L | 0.995 |
| 7:102472461:G:C | K514N | 0.995 |
| 7:102472461:G:T | K514N | 0.995 |
| 7:102472918:T:A | W605R | 0.995 |
| 7:102472918:T:C | W605R | 0.995 |
| 7:102465891:T:C | L52P | 0.994 |
| 7:102466023:T:C | L96P | 0.994 |
| 7:102468574:G:C | A314P | 0.994 |
| 7:102469057:T:A | L408H | 0.994 |
| 7:102469574:C:A | T410K | 0.994 |
| 7:102465957:T:C | L74P | 0.993 |
| 7:102466014:T:A | L93H | 0.993 |
| 7:102466039:C:A | N101K | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000046552 (7:102463744 T>C), RS1000182471 (7:102469169 C>T), RS1000515753 (7:102468149 G>A), RS1000594052 (7:102468009 G>A), RS1000654546 (7:102473124 G>A,C,T), RS1001262173 (7:102466472 T>C), RS1001262205 (7:102469986 G>A,C,T), RS1001361022 (7:102473426 G>A), RS1002196579 (7:102471759 T>C), RS1002390196 (7:102465153 A>C,T), RS1002417126 (7:102471665 G>A,C), RS1002981323 (7:102467942 C>A,T), RS1003029816 (7:102463670 G>A), RS1003054432 (7:102467718 G>C,T), RS1003318430 (7:102466666 C>A,T)
Disease associations
OMIM: gene MIM:615167 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5724638 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects expression, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cupric chloride | increases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| Grape Seed Proanthocyanidins | decreases expression, affects cotreatment | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Rotenone | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | increases expression, increases methylation | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| Vitamin K 3 | affects expression | 1 |
ChEMBL screening assays
6 unique, capped per target: 6 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697377 | Binding | Inhibition of LRWD1 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1W7 | Abcam HeLa LRWD1 KO | Cancer cell line | Female |
| CVCL_E2BL | HAP1 LRWD1 (-) 1 | Cancer cell line | Male |
| CVCL_E2BM | HAP1 LRWD1 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.