LSMEM1
gene geneOn this page
Also known as FLJ39575
Summary
LSMEM1 (leucine rich single-pass membrane protein 1, HGNC:22036) is a protein-coding gene on chromosome 7q31.1, encoding Leucine-rich single-pass membrane protein 1 (Q8N8F7).
Predicted to be located in membrane.
Source: NCBI Gene 286006 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 19 total — 1 likely-pathogenic
- MANE Select transcript:
NM_182597
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:22036 |
| Approved symbol | LSMEM1 |
| Name | leucine rich single-pass membrane protein 1 |
| Location | 7q31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ39575 |
| Ensembl gene | ENSG00000181016 |
| Ensembl biotype | protein_coding |
| Entrez | 286006 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 5 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000312849, ENST00000439068, ENST00000455302, ENST00000471030, ENST00000486022, ENST00000892714, ENST00000892715, ENST00000892716
RefSeq mRNA: 2 — MANE Select: NM_182597
NM_001134468, NM_182597
CCDS: CCDS5756
Canonical transcript exons
ENST00000312849 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001250537 | 112480991 | 112481346 |
| ENSE00001250544 | 112489810 | 112491062 |
| ENSE00001250553 | 112484812 | 112484943 |
| ENSE00003675000 | 112486923 | 112487051 |
Expression profiles
Bgee: expression breadth ubiquitous, 136 present calls, max score 90.36.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0437 / max 17.6630, expressed in 12 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 80540 | 0.0437 | 12 |
Top tissues by expression
136 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| hindlimb stylopod muscle | UBERON:0004252 | 90.36 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.12 | gold quality |
| blood | UBERON:0000178 | 85.12 | gold quality |
| body of pancreas | UBERON:0001150 | 84.58 | gold quality |
| muscle of leg | UBERON:0001383 | 84.32 | gold quality |
| gastrocnemius | UBERON:0001388 | 82.93 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 82.63 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 82.61 | gold quality |
| right lobe of liver | UBERON:0001114 | 81.50 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 79.64 | gold quality |
| cerebellar cortex | UBERON:0002129 | 79.61 | gold quality |
| cerebellum | UBERON:0002037 | 79.16 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 78.11 | gold quality |
| mucosa of stomach | UBERON:0001199 | 77.72 | gold quality |
| right lung | UBERON:0002167 | 77.47 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 77.43 | gold quality |
| popliteal artery | UBERON:0002250 | 76.15 | gold quality |
| tibial artery | UBERON:0007610 | 76.13 | gold quality |
| muscle tissue | UBERON:0002385 | 75.27 | gold quality |
| ascending aorta | UBERON:0001496 | 74.94 | gold quality |
| right coronary artery | UBERON:0001625 | 74.87 | gold quality |
| thoracic aorta | UBERON:0001515 | 74.75 | gold quality |
| endometrium | UBERON:0001295 | 74.70 | gold quality |
| pancreas | UBERON:0001264 | 74.44 | gold quality |
| body of stomach | UBERON:0001161 | 74.19 | gold quality |
| spleen | UBERON:0002106 | 74.16 | gold quality |
| fundus of stomach | UBERON:0001160 | 74.01 | gold quality |
| metanephros cortex | UBERON:0010533 | 73.35 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 72.90 | gold quality |
| omental fat pad | UBERON:0010414 | 72.86 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.07 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
48 targeting LSMEM1, 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-3162-3P | 100.00 | 65.37 | 363 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
| HSA-MIR-301B-3P | 99.90 | 73.19 | 1836 |
| HSA-MIR-3666 | 99.90 | 73.24 | 1833 |
| HSA-MIR-4295 | 99.90 | 73.11 | 1838 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-4762-5P | 99.57 | 68.54 | 1424 |
| HSA-MIR-4761-5P | 99.51 | 66.69 | 804 |
| HSA-MIR-183-3P | 99.41 | 69.41 | 1598 |
| HSA-MIR-18A-5P | 99.29 | 71.05 | 806 |
| HSA-MIR-18B-5P | 99.29 | 71.05 | 806 |
| HSA-MIR-544B | 99.18 | 67.41 | 1632 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-4735-3P | 99.14 | 69.85 | 777 |
| HSA-MIR-4711-3P | 98.97 | 66.87 | 1020 |
| HSA-MIR-6840-3P | 98.68 | 65.95 | 1923 |
| HSA-MIR-1237-3P | 98.55 | 67.65 | 1423 |
| HSA-MIR-550A-3P | 98.37 | 69.61 | 632 |
| HSA-MIR-4717-5P | 98.19 | 67.97 | 894 |
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Lsmem1 | ENSMUSG00000071342 |
| rattus_norvegicus | Lsmem1 | ENSRNOG00000039110 |
Protein
Protein identifiers
Leucine-rich single-pass membrane protein 1 — Q8N8F7 (reviewed: Q8N8F7)
All UniProt accessions (1): Q8N8F7
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Membrane.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N8F7-1 | 1 | yes |
| Q8N8F7-2 | 2 |
RefSeq proteins (2): NP_001127940, NP_872403* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR028099 | DUF4577 | Family |
Pfam: PF15145
UniProt features (5 total): chain 1, transmembrane region 1, coiled-coil region 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N8F7-F1 | 68.68 | 0.23 |
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 (1): 24
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 27 (showing top):
CHANDRAN_METASTASIS_UP, chr7q31, ZNF10_TARGET_GENES, MIR454_3P, MIR130A_3P, MIR130B_3P, MIR4295, MIR301A_3P, MIR301B_3P, MIR3666, MIR1237_3P, MIR4711_3P, MIR3139, MIR708_5P, MIR28_5P
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (1): membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
416 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LSMEM1 | ETNPPL | Q8TBG4 | 490 |
| LSMEM1 | ZBTB1 | Q9Y2K1 | 489 |
| LSMEM1 | ITPRIP | Q8IWB1 | 488 |
| LSMEM1 | REPS2 | Q8NFH8 | 461 |
| LSMEM1 | WDR47 | O94967 | 459 |
| LSMEM1 | ZFAND2A | Q8N6M9 | 447 |
| LSMEM1 | TMCC3 | Q9ULS5 | 431 |
| LSMEM1 | C3orf62 | Q6ZUJ4 | 419 |
| LSMEM1 | UBALD2 | Q8IYN6 | 400 |
| LSMEM1 | PLPPR2 | Q96GM1 | 370 |
| LSMEM1 | PPP1R3A | Q16821 | 350 |
| LSMEM1 | C6orf58 | Q6P5S2 | 350 |
| LSMEM1 | CABCOCO1 | Q8IVU9 | 348 |
| LSMEM1 | MANSC1 | Q9H8J5 | 348 |
| LSMEM1 | CELSR1 | Q9NYQ6 | 341 |
IntAct
22 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LSMEM1 | LSMEM2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| LSMEM2 | LSMEM1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MAL | LSMEM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LSMEM1 | ZDHHC15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CD53 | LSMEM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LSMEM1 | TMEM80 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LSMEM1 | SRC | psi-mi:“MI:0914”(association) | 0.350 |
| LSMEM2 | LSMEM1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| ZDHHC15 | LSMEM1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| LSMEM1 | TMEM80 | psi-mi:“MI:0915”(physical association) | 0.000 |
| LSMEM1 | CD53 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (13): LSMEM1 (Two-hybrid), LSMEM1 (Two-hybrid), LSMEM1 (Two-hybrid), LSMEM1 (Two-hybrid), LSMEM1 (Two-hybrid), LSMEM1 (Two-hybrid), SRC (Affinity Capture-MS), IFNGR2 (Affinity Capture-MS), PPP1R10 (Affinity Capture-MS), FBXO28 (Affinity Capture-MS), LSMEM1 (PCA), LSMEM1 (PCA), APP (Reconstituted Complex)
ESM2 similar proteins: A2VE00, A5PK14, F1QEA1, O75324, P0DKX4, P20826, P21581, P21583, P58550, P59773, P61807, P61808, P79169, P79368, Q06220, Q09108, Q10589, Q15053, Q17Q87, Q28132, Q28C41, Q28GJ0, Q29030, Q2T9X8, Q3UQS2, Q5PQQ9, Q5RBY6, Q5RKG1, Q5U3Z6, Q640L3, Q6AY06, Q6DF94, Q6IQY5, Q6NRX3, Q811A2, Q86YF9, Q8BIS8, Q8BMD2, Q8C804, Q8N0Z3
Diamond homologs: A5PK14, Q3UQS2, Q8N8F7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
19 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 14 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 815018 | GRCh37/hg19 7q31.1(chr7:109594999-113885203)x3 | Likely pathogenic |
SpliceAI
619 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:112489805:T:TA | acceptor_gain | 1.0000 |
| 7:112489808:A:AG | acceptor_gain | 1.0000 |
| 7:112489809:G:GG | acceptor_gain | 1.0000 |
| 7:112480974:A:G | donor_gain | 0.9900 |
| 7:112484939:GTTCC:G | donor_gain | 0.9900 |
| 7:112484944:G:GG | donor_gain | 0.9900 |
| 7:112484958:G:T | donor_gain | 0.9900 |
| 7:112486917:T:G | acceptor_gain | 0.9900 |
| 7:112486921:A:AG | acceptor_gain | 0.9900 |
| 7:112486922:G:GG | acceptor_gain | 0.9900 |
| 7:112487052:G:GG | donor_gain | 0.9900 |
| 7:112487052:GTAA:G | donor_loss | 0.9900 |
| 7:112489806:GAA:G | acceptor_loss | 0.9900 |
| 7:112489808:AG:A | acceptor_loss | 0.9900 |
| 7:112489809:GTT:G | acceptor_gain | 0.9900 |
| 7:112489809:GTTC:G | acceptor_gain | 0.9900 |
| 7:112484859:G:GT | donor_gain | 0.9800 |
| 7:112484958:G:GT | donor_gain | 0.9800 |
| 7:112486916:A:AG | acceptor_gain | 0.9800 |
| 7:112487053:T:A | donor_loss | 0.9800 |
| 7:112487054:AA:A | donor_loss | 0.9800 |
| 7:112489809:GTTCA:G | acceptor_gain | 0.9800 |
| 7:112480979:G:GT | donor_gain | 0.9700 |
| 7:112486910:T:A | acceptor_loss | 0.9700 |
| 7:112486910:T:TA | acceptor_gain | 0.9700 |
| 7:112486919:TTAG:T | acceptor_loss | 0.9700 |
| 7:112486920:TAGC:T | acceptor_loss | 0.9700 |
| 7:112486921:AG:A | acceptor_loss | 0.9700 |
| 7:112486922:G:GA | acceptor_loss | 0.9700 |
| 7:112486922:GCTCT:G | acceptor_gain | 0.9700 |
AlphaMissense
855 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:112487015:A:C | S74R | 0.992 |
| 7:112487017:C:A | S74R | 0.992 |
| 7:112487017:C:G | S74R | 0.992 |
| 7:112489879:T:C | L109P | 0.978 |
| 7:112484899:T:C | L28S | 0.961 |
| 7:112489879:T:A | L109H | 0.960 |
| 7:112489849:T:C | L99P | 0.942 |
| 7:112484890:T:C | I25T | 0.937 |
| 7:112484886:T:C | S24P | 0.927 |
| 7:112484884:A:T | D23V | 0.923 |
| 7:112484887:C:T | S24F | 0.922 |
| 7:112489891:A:T | N113I | 0.922 |
| 7:112484890:T:A | I25K | 0.902 |
| 7:112484894:T:A | N26K | 0.901 |
| 7:112484894:T:G | N26K | 0.901 |
| 7:112489912:T:C | L120P | 0.890 |
| 7:112489879:T:G | L109R | 0.887 |
| 7:112484893:A:T | N26I | 0.881 |
| 7:112487019:T:C | L75P | 0.881 |
| 7:112484885:T:A | D23E | 0.880 |
| 7:112484885:T:G | D23E | 0.880 |
| 7:112484887:C:A | S24Y | 0.878 |
| 7:112484890:T:G | I25R | 0.870 |
| 7:112484883:G:C | D23H | 0.863 |
| 7:112484884:A:C | D23A | 0.858 |
| 7:112489883:G:C | K110N | 0.857 |
| 7:112489883:G:T | K110N | 0.857 |
| 7:112487007:T:G | L71R | 0.851 |
| 7:112489900:T:G | I116S | 0.848 |
| 7:112489892:T:A | N113K | 0.846 |
dbSNP variants (sampled 300 via entrez): RS1000006355 (7:112483900 A>G), RS1000505556 (7:112481076 A>G), RS1000736857 (7:112490608 C>G), RS1000888135 (7:112481458 A>T), RS1001061077 (7:112485604 T>A,C), RS1001894462 (7:112478960 T>C), RS1002059271 (7:112486267 G>T), RS1002226373 (7:112487200 C>T), RS1002286475 (7:112480592 G>A), RS1002959992 (7:112487082 A>T), RS1002993872 (7:112481004 C>T), RS1003114369 (7:112485607 C>T), RS1003882397 (7:112487873 C>T), RS1004413012 (7:112482293 C>G), RS1005343559 (7:112479446 C>G,T)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010796_570 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-09 |
| GCST010796_571 | Electrocardiogram morphology (amplitude at temporal datapoints) | 6.000000e-09 |
| GCST010796_572 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-08 |
| GCST010796_573 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-09 |
| GCST010796_574 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-09 |
| GCST010796_575 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004327 | electrocardiography |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | increases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Silicon Dioxide | increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Valproic Acid | affects expression, decreases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases methylation | 1 |
| sodium arsenate | increases abundance, increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| hydroxyhydroquinone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| ferrous chloride | increases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| abrine | increases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | decreases expression | 1 |
| licochalcone B | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Cisplatin | decreases expression, affects cotreatment | 1 |
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.