SSR1
geneOn this page
Also known as TRAPA
Summary
SSR1 (signal sequence receptor subunit 1, HGNC:11323) is a protein-coding gene on chromosome 6p24.3, encoding Translocon-associated protein subunit alpha (P43307). TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins.
The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual in that it utilizes arrays of polyA signal sequences that are mostly non-canonical. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 6745 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 39 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_003144
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11323 |
| Approved symbol | SSR1 |
| Name | signal sequence receptor subunit 1 |
| Location | 6p24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TRAPA |
| Ensembl gene | ENSG00000124783 |
| Ensembl biotype | protein_coding |
| OMIM | 600868 |
| Entrez | 6745 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 12 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000244763, ENST00000397511, ENST00000462112, ENST00000474597, ENST00000475213, ENST00000479365, ENST00000479485, ENST00000483409, ENST00000488834, ENST00000489567, ENST00000650389, ENST00000916205, ENST00000916206, ENST00000916207, ENST00000916208
RefSeq mRNA: 2 — MANE Select: NM_003144
NM_001292008, NM_003144
CCDS: CCDS4499, CCDS78109
Canonical transcript exons
ENST00000244763 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001155537 | 7295392 | 7295485 |
| ENSE00001155542 | 7297923 | 7298001 |
| ENSE00001155548 | 7298747 | 7298823 |
| ENSE00001155552 | 7301310 | 7301572 |
| ENSE00001546762 | 7281143 | 7289931 |
| ENSE00003632826 | 7303550 | 7303637 |
| ENSE00003643320 | 7309917 | 7310029 |
| ENSE00003842382 | 7313042 | 7313199 |
Expression profiles
Bgee: expression breadth ubiquitous, 302 present calls, max score 99.61.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 132.0305 / max 2419.4395, expressed in 1826 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 71613 | 126.3440 | 1825 |
| 71610 | 1.8842 | 1083 |
| 71612 | 1.1571 | 602 |
| 71605 | 1.0166 | 415 |
| 71611 | 1.0002 | 589 |
| 71609 | 0.5621 | 263 |
| 71616 | 0.0663 | 34 |
Top tissues by expression
303 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| corpus epididymis | UBERON:0004359 | 99.61 | gold quality |
| caput epididymis | UBERON:0004358 | 99.55 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 99.49 | gold quality |
| parotid gland | UBERON:0001831 | 99.39 | gold quality |
| tibia | UBERON:0000979 | 99.38 | gold quality |
| skin of hip | UBERON:0001554 | 99.33 | gold quality |
| cauda epididymis | UBERON:0004360 | 99.31 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 99.30 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 99.24 | gold quality |
| gingiva | UBERON:0001828 | 99.23 | gold quality |
| gingival epithelium | UBERON:0001949 | 99.20 | gold quality |
| seminal vesicle | UBERON:0000998 | 99.18 | gold quality |
| decidua | UBERON:0002450 | 99.14 | gold quality |
| parietal pleura | UBERON:0002400 | 99.13 | gold quality |
| oral cavity | UBERON:0000167 | 99.04 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 99.04 | gold quality |
| retina | UBERON:0000966 | 99.02 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 99.01 | gold quality |
| pleura | UBERON:0000977 | 99.00 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.99 | gold quality |
| superficial temporal artery | UBERON:0001614 | 98.98 | gold quality |
| mammary duct | UBERON:0001765 | 98.96 | gold quality |
| squamous epithelium | UBERON:0006914 | 98.96 | gold quality |
| colonic mucosa | UBERON:0000317 | 98.95 | gold quality |
| visceral pleura | UBERON:0002401 | 98.89 | gold quality |
| islet of Langerhans | UBERON:0000006 | 98.84 | gold quality |
| mammalian vulva | UBERON:0000997 | 98.78 | gold quality |
| bone marrow cell | CL:0002092 | 98.77 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 98.75 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 98.75 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-130473 | yes | 20912.94 |
| E-MTAB-9467 | yes | 48.62 |
| E-HCAD-1 | yes | 44.14 |
| E-CURD-122 | yes | 22.06 |
| E-MTAB-6678 | yes | 8.06 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): SPI1
miRNA regulators (miRDB)
301 targeting SSR1, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
Literature-anchored findings (GeneRIF, showing 1)
- RP11156L14.1 regulates SSR1 expression by competitively binding to miR548ao3p in hypopharyngeal squamous cell carcinoma. (PMID:33000261)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ssr1 | ENSDARG00000101627 |
| mus_musculus | Ssr1 | ENSMUSG00000021427 |
| rattus_norvegicus | Ssr1 | ENSRNOG00000014165 |
| drosophila_melanogaster | l(1)G0320 | FBGN0028327 |
| caenorhabditis_elegans | trap-1 | WBGENE00022122 |
Protein
Protein identifiers
Translocon-associated protein subunit alpha — P43307 (reviewed: P43307)
Alternative names: Signal sequence receptor subunit alpha
All UniProt accessions (8): A0A3B3IRT8, C9IZQ1, C9J3L8, C9J5W0, C9JBX5, C9JY01, E9PAL7, P43307
UniProt curated annotations — full annotation on UniProt →
Function. TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins. May be involved in the recycling of the translocation apparatus after completion of the translocation process or may function as a membrane-bound chaperone facilitating folding of translocated proteins.
Subunit / interactions. Heterotetramer of TRAP-alpha, TRAP-beta, TRAP-delta and TRAP-gamma. Interacts with palmitoylated calnexin (CALX), the interaction is required for efficient folding of glycosylated proteins.
Subcellular location. Endoplasmic reticulum membrane.
Domain organisation. Shows a remarkable charge distribution with the N-terminus being highly negatively charged, and the cytoplasmic C-terminus positively charged.
Miscellaneous. Seems to bind calcium.
Similarity. Belongs to the TRAP-alpha family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P43307-1 | 1 | yes |
| P43307-2 | 2 |
RefSeq proteins (2): NP_001278937, NP_003135* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005595 | TRAP_alpha | Family |
Pfam: PF03896
UniProt features (23 total): sequence conflict 7, modified residue 3, glycosylation site 2, topological domain 2, region of interest 2, compositionally biased region 2, signal peptide 1, chain 1, splice variant 1, sequence variant 1, transmembrane region 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9N9J | ELECTRON MICROSCOPY | 3.2 |
| 9YGY | ELECTRON MICROSCOPY | 4.1 |
| 8B6L | ELECTRON MICROSCOPY | 7.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P43307-F1 | 76.20 | 0.46 |
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 (3): 260, 268, 247
Glycosylation sites (2): 136, 191
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-1799339 | SRP-dependent cotranslational protein targeting to membrane |
| R-HSA-381038 | XBP1(S) activates chaperone genes |
| R-HSA-2262752 | Cellular responses to stress |
| R-HSA-381070 | IRE1alpha activates chaperones |
| R-HSA-381119 | Unfolded Protein Response (UPR) |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-72766 | Translation |
| R-HSA-8953897 | Cellular responses to stimuli |
MSigDB gene sets: 314 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_DUCTAL_NORMAL_UP, MODULE_52, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, ACTACCT_MIR196A_MIR196B, REACTOME_UNFOLDED_PROTEIN_RESPONSE_UPR, GRUETZMANN_PANCREATIC_CANCER_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GNF2_BNIP2, MIDORIKAWA_AMPLIFIED_IN_LIVER_CANCER, chr6p24, ENK_UV_RESPONSE_KERATINOCYTE_UP, SHEPARD_CRASH_AND_BURN_MUTANT_UP, AAGCCAT_MIR135A_MIR135B
GO Biological Process (2): cotranslational protein targeting to membrane (GO:0006613), positive regulation of cell population proliferation (GO:0008284)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| Translation | 1 |
| IRE1alpha activates chaperones | 1 |
| Cellular responses to stimuli | 1 |
| Unfolded Protein Response (UPR) | 1 |
| Cellular responses to stress | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein targeting to membrane | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| positive regulation of cellular process | 1 |
| binding | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1284 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SSR1 | SSR2 | P43308 | 999 |
| SSR1 | SSR3 | Q9UNL2 | 998 |
| SSR1 | SSR4 | P51571 | 978 |
| SSR1 | SEC61A1 | P38378 | 613 |
| SSR1 | RPL31 | P12947 | 604 |
| SSR1 | RPN1 | P04843 | 572 |
| SSR1 | SEC63 | Q9UGP8 | 564 |
| SSR1 | RPN2 | P04844 | 539 |
| SSR1 | STT3A | P46977 | 513 |
| SSR1 | CANX | P27824 | 488 |
| SSR1 | STT3B | Q8TCJ2 | 487 |
| SSR1 | HSP90B1 | P14625 | 451 |
| SSR1 | SEC61B | P38390 | 450 |
| SSR1 | RREB1 | Q92766 | 447 |
| SSR1 | DERL2 | Q9GZP9 | 442 |
IntAct
152 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EGFR | HSP90AA1 | psi-mi:“MI:0914”(association) | 0.820 |
| CANX | SSR1 | psi-mi:“MI:0915”(physical association) | 0.770 |
| SSR1 | CANX | psi-mi:“MI:0914”(association) | 0.770 |
| CANX | SSR1 | psi-mi:“MI:0914”(association) | 0.770 |
| EZH2 | EPOP | psi-mi:“MI:0914”(association) | 0.730 |
| NRBP1 | TSC22D2 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| ERBB3 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.700 |
| SEC61A1 | CANX | psi-mi:“MI:0914”(association) | 0.690 |
| PKN3 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.680 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| CANX | PGRMC1 | psi-mi:“MI:0914”(association) | 0.570 |
| SEC61B | SSR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPL13 | RPLP1 | psi-mi:“MI:0914”(association) | 0.530 |
| RPN1 | APBB1 | psi-mi:“MI:0914”(association) | 0.530 |
| FLVCR1 | TNFRSF10B | psi-mi:“MI:0914”(association) | 0.530 |
| ILK | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| ERBB2 | NDUFA4 | psi-mi:“MI:0914”(association) | 0.530 |
| SSR1 | SERPINA1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| SERPINA1 | SSR1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
BioGRID (545): SSR1 (Affinity Capture-MS), SSR1 (Affinity Capture-MS), SSR1 (Affinity Capture-MS), ATP5C1 (Co-fractionation), CYC1 (Co-fractionation), DDOST (Co-fractionation), PHB (Co-fractionation), SSR1 (Co-fractionation), SSR1 (Co-fractionation), SSR1 (Co-fractionation), SSR1 (Co-fractionation), SSR1 (Co-fractionation), SSR1 (Co-fractionation), SSR1 (Co-fractionation), SSR1 (Co-fractionation)
ESM2 similar proteins: A5D8P8, A5PJA8, A6QLP7, A7E2Z9, A9SV59, B5DDX6, E2RQ08, F1QR43, F1R777, F4JVN6, O12940, O18756, O64614, O94923, P04843, P07153, P16967, P43307, P45433, P51571, P53815, Q04499, Q05AW9, Q07984, Q0IHY5, Q0J6P7, Q2M146, Q2TBX5, Q3UFM5, Q4R4T0, Q4R5V2, Q5R4X4, Q5REH6, Q5RFB6, Q5TYV0, Q5ZJT0, Q62186, Q6P7K5, Q7ZV50, Q8BXQ2
Diamond homologs: A6QLP7, P16967, P43307, P45433, P53815, Q54R45, Q5R4X4, Q7TPJ0, Q9CY50, P45434
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SSR1 | “form complex” | “TRAP complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 169 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 |
|---|---|---|---|
| Signaling by ERBB2 ECD mutants | 6 | 31.7× | 3e-06 |
| Constitutive Signaling by EGFRvIII | 5 | 28.1× | 3e-05 |
| Signaling by ERBB2 TMD/JMD mutants | 7 | 26.2× | 1e-06 |
| GRB2 events in ERBB2 signaling | 5 | 25.0× | 5e-05 |
| Signaling by ERBB2 KD Mutants | 7 | 23.3× | 2e-06 |
| SHC1 events in ERBB2 signaling | 6 | 22.5× | 1e-05 |
| Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants | 5 | 22.5× | 7e-05 |
| SRP-dependent cotranslational protein targeting to membrane | 17 | 13.4× | 6e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 10 | 12.9× | 7e-06 |
| translation | 12 | 8.6× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
39 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 23 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2180 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:7289871:T:C | donor_gain | 1.0000 |
| 6:7295390:A:AC | donor_gain | 1.0000 |
| 6:7295391:C:CT | donor_gain | 1.0000 |
| 6:7295391:CT:C | donor_gain | 1.0000 |
| 6:7295391:CTG:C | donor_gain | 1.0000 |
| 6:7295391:CTGA:C | donor_gain | 1.0000 |
| 6:7295391:CTGAT:C | donor_gain | 1.0000 |
| 6:7295484:CG:C | acceptor_gain | 1.0000 |
| 6:7295486:C:CC | acceptor_gain | 1.0000 |
| 6:7298002:C:CC | acceptor_gain | 1.0000 |
| 6:7298742:CTT:C | donor_loss | 1.0000 |
| 6:7298743:TTACG:T | donor_loss | 1.0000 |
| 6:7298744:T:TC | donor_loss | 1.0000 |
| 6:7298745:A:AC | donor_gain | 1.0000 |
| 6:7298745:ACGT:A | donor_loss | 1.0000 |
| 6:7298746:C:CG | donor_gain | 1.0000 |
| 6:7298746:CGTTT:C | donor_gain | 1.0000 |
| 6:7298819:TTGCC:T | acceptor_gain | 1.0000 |
| 6:7298820:TGCC:T | acceptor_gain | 1.0000 |
| 6:7298820:TGCCC:T | acceptor_loss | 1.0000 |
| 6:7298821:GCCCT:G | acceptor_loss | 1.0000 |
| 6:7298822:CC:C | acceptor_gain | 1.0000 |
| 6:7298822:CCCTG:C | acceptor_loss | 1.0000 |
| 6:7298823:CC:C | acceptor_gain | 1.0000 |
| 6:7298823:CCTG:C | acceptor_loss | 1.0000 |
| 6:7298824:C:A | acceptor_loss | 1.0000 |
| 6:7298824:C:CC | acceptor_gain | 1.0000 |
| 6:7298825:T:A | acceptor_loss | 1.0000 |
| 6:7301304:TCTTA:T | donor_loss | 1.0000 |
| 6:7301305:CTTA:C | donor_loss | 1.0000 |
AlphaMissense
1877 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:7301329:A:G | L175P | 1.000 |
| 6:7301486:A:G | S123P | 1.000 |
| 6:7301503:A:T | V117D | 1.000 |
| 6:7295418:A:G | I256T | 0.999 |
| 6:7295420:C:A | W255C | 0.999 |
| 6:7295420:C:G | W255C | 0.999 |
| 6:7295422:A:G | W255R | 0.999 |
| 6:7295422:A:T | W255R | 0.999 |
| 6:7298786:A:T | V194D | 0.999 |
| 6:7298801:A:T | V189D | 0.999 |
| 6:7301341:A:G | L171S | 0.999 |
| 6:7301380:A:G | F158S | 0.999 |
| 6:7301387:A:G | Y156H | 0.999 |
| 6:7301399:C:G | A152P | 0.999 |
| 6:7301443:A:G | F137S | 0.999 |
| 6:7301445:A:C | N136K | 0.999 |
| 6:7301445:A:T | N136K | 0.999 |
| 6:7301449:T:G | Q135P | 0.999 |
| 6:7301479:C:G | R125P | 0.999 |
| 6:7301482:A:G | F124S | 0.999 |
| 6:7301488:G:T | A122D | 0.999 |
| 6:7301489:C:G | A122P | 0.999 |
| 6:7301498:A:G | S119P | 0.999 |
| 6:7301533:A:G | F107S | 0.999 |
| 6:7301542:A:G | L104P | 0.999 |
| 6:7297975:C:T | G216D | 0.998 |
| 6:7297976:C:G | G216R | 0.998 |
| 6:7298780:A:T | V196D | 0.998 |
| 6:7298797:G:C | F190L | 0.998 |
| 6:7298797:G:T | F190L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000047214 (6:7286871 C>A), RS1000080247 (6:7312953 C>T), RS1000235310 (6:7307950 T>C), RS1000322103 (6:7307389 T>C), RS1000387694 (6:7290333 C>G), RS10004 (6:7310026 A>G), RS1000490243 (6:7308242 C>G,T), RS1000710862 (6:7284091 A>C,G,T), RS1000723452 (6:7304141 T>C), RS1000862945 (6:7314195 G>A,T), RS1000988204 (6:7312540 G>A), RS1001081846 (6:7313944 C>T), RS1001298723 (6:7312725 G>A), RS1001377966 (6:7308456 C>A), RS1001507700 (6:7303061 G>A)
Disease associations
OMIM: gene MIM:600868 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002352_15 | Type 2 diabetes | 1.000000e-09 |
| GCST004894_131 | Type 2 diabetes | 2.000000e-08 |
| GCST004894_56 | Type 2 diabetes | 1.000000e-09 |
| GCST006291_86 | Spherical equivalent or myopia (age of diagnosis) | 1.000000e-09 |
| GCST006467_1 | Ewing sarcoma | 1.000000e-18 |
| GCST007847_124 | Type 2 diabetes | 3.000000e-08 |
| GCST010118_49 | Type 2 diabetes | 2.000000e-14 |
| GCST010702_91 | Subcortical volume (MOSTest) | 1.000000e-08 |
| GCST010703_226 | Brain morphology (MOSTest) | 9.000000e-13 |
| GCST012227_222 | Hip circumference adjusted for BMI | 5.000000e-08 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004847 | age at onset |
| EFO:0004346 | neuroimaging measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066162 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
1 potent at pChembl≥5 of 5 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.31 | IC50 | 490 | nM | MOLIBRESIB |
PubChem BioAssay actives
1 with measured affinity, of 10 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2178997: Inhibition of SSR1 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | ic50 | 0.4900 | uM |
CTD chemical–gene interactions
59 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 7 |
| Cyclosporine | increases expression | 4 |
| bisphenol S | decreases methylation, increases expression | 3 |
| bisphenol A | decreases expression, affects expression | 2 |
| cobaltous chloride | decreases expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| sodium arsenate | decreases expression | 1 |
| salinomycin | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| nivalenol | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| tamibarotene | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| deguelin | decreases expression | 1 |
| 4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases reaction, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| eprenetapopt | affects expression | 1 |
| jinfukang | decreases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652540 | Binding | Binding affinity to human SSR1 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Ewing sarcoma, refractive error, type 2 diabetes mellitus