REPIN1
gene geneOn this page
Also known as RIP60AP4H_DJ0584D14.12Zfp464
Summary
REPIN1 (replication initiator 1, HGNC:17922) is a protein-coding gene on chromosome 7q36.1, encoding DNA-binding protein REPIN1 (Q9BWE0). Sequence-specific double-stranded DNA-binding protein.
Enables sequence-specific DNA binding activity. Predicted to be involved in regulation of fatty acid transport and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of D-glucose import. Located in nucleoplasm.
Source: NCBI Gene 29803 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 112 total
- MANE Select transcript:
NM_001099695
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17922 |
| Approved symbol | REPIN1 |
| Name | replication initiator 1 |
| Location | 7q36.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RIP60, AP4, H_DJ0584D14.12, Zfp464 |
| Ensembl gene | ENSG00000214022 |
| Ensembl biotype | protein_coding |
| OMIM | 619039 |
| Entrez | 29803 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 18 protein_coding, 4 retained_intron, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000397281, ENST00000425389, ENST00000444957, ENST00000466559, ENST00000467980, ENST00000469309, ENST00000473391, ENST00000475514, ENST00000479668, ENST00000482680, ENST00000486714, ENST00000487455, ENST00000488943, ENST00000489432, ENST00000495535, ENST00000518462, ENST00000518514, ENST00000519397, ENST00000522266, ENST00000892312, ENST00000892313, ENST00000892314, ENST00000892315, ENST00000892316, ENST00000932521, ENST00000932522
RefSeq mRNA: 35 — MANE Select: NM_001099695
NM_001099695, NM_001099696, NM_001362745, NM_001362746, NM_001362747, NM_001388037, NM_001388038, NM_001388039, NM_001388040, NM_001388041, NM_001388042, NM_001388043, NM_001388044, NM_001388045, NM_001388046, NM_001388047, NM_001388048, NM_001388049, NM_001388050, NM_001388051, NM_001388052, NM_001388053, NM_001388054, NM_001388055, NM_001388056, NM_001388057, NM_001388058, NM_001388059, NM_001388060, NM_001388061, NM_001388062, NM_001388063, NM_001388064, NM_001388065, NM_013400
CCDS: CCDS43677, CCDS47745
Canonical transcript exons
ENST00000489432 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001829992 | 150368822 | 150368941 |
| ENSE00001910228 | 150371228 | 150374039 |
| ENSE00003682831 | 150369671 | 150369868 |
Expression profiles
Bgee: expression breadth ubiquitous, 287 present calls, max score 97.80.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.4610 / max 250.9676, expressed in 1812 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 81931 | 29.4892 | 1811 |
| 81927 | 1.8050 | 554 |
| 81932 | 1.5213 | 607 |
| 81930 | 0.6655 | 370 |
| 81929 | 0.4947 | 199 |
| 81933 | 0.0756 | 29 |
| 81928 | 0.0752 | 31 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 97.80 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.63 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.36 | gold quality |
| pituitary gland | UBERON:0000007 | 97.17 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 97.08 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.06 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 97.05 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 97.04 | gold quality |
| left adrenal gland | UBERON:0001234 | 97.02 | gold quality |
| adrenal cortex | UBERON:0001235 | 97.01 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.98 | gold quality |
| transverse colon | UBERON:0001157 | 96.86 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.82 | gold quality |
| thymus | UBERON:0002370 | 96.81 | gold quality |
| apex of heart | UBERON:0002098 | 96.77 | gold quality |
| gluteal muscle | UBERON:0002000 | 96.60 | gold quality |
| triceps brachii | UBERON:0001509 | 96.44 | gold quality |
| muscle of leg | UBERON:0001383 | 96.31 | gold quality |
| adrenal gland | UBERON:0002369 | 96.16 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.12 | gold quality |
| biceps brachii | UBERON:0001507 | 96.10 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.10 | gold quality |
| renal medulla | UBERON:0000362 | 96.07 | gold quality |
| body of pancreas | UBERON:0001150 | 96.04 | gold quality |
| body of tongue | UBERON:0011876 | 96.01 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 95.96 | gold quality |
| corpus epididymis | UBERON:0004359 | 95.95 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 95.86 | gold quality |
| colonic mucosa | UBERON:0000317 | 95.83 | gold quality |
| body of stomach | UBERON:0001161 | 95.81 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-114 | yes | 10.78 |
| E-ANND-3 | yes | 8.91 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| DBH | Repression |
miRNA regulators (miRDB)
53 targeting REPIN1, 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-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-23B-5P | 99.98 | 66.07 | 587 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-4663 | 99.62 | 65.33 | 957 |
| HSA-MIR-3136-3P | 99.57 | 66.59 | 781 |
| HSA-MIR-7155-3P | 99.57 | 66.48 | 794 |
| HSA-MIR-4762-5P | 99.57 | 68.54 | 1424 |
| HSA-MIR-2392 | 99.43 | 67.50 | 708 |
| HSA-MIR-5695 | 99.41 | 67.48 | 1047 |
| HSA-MIR-520A-5P | 99.35 | 66.72 | 1632 |
| HSA-MIR-525-5P | 99.35 | 66.85 | 1615 |
| HSA-MIR-4685-5P | 99.25 | 65.99 | 1563 |
Literature-anchored findings (GeneRIF, showing 11)
- AP4 and geminin act as a repressor complex distinct from REST/NRSF to negatively regulate the expression of target genes in nonneuronal cells. (PMID:16924111)
- a potential role for Repin1 as regulator of adipocyte size was shown.Repin1 seems to be involved in the regulation of genes involved in adipogenesis. (PMID:20727851)
- there is a p53-induced double-negative feedback loop involving miR-15a/16-1 and AP4 that stabilizes epithelial and mesenchymal states, respectively, which may determine metastatic prowess in colorectal cancer (PMID:24285725)
- AP4 is transcriptionally activated by TGFB1 to inhibit phosphorylation of SMAD2 as a negative regulator of an activated TGFB receptor signaling on cell growth inhibition in non-small cell lung cancer (PMID:25266805)
- Results show that breast cancer cells underwent epithelial-mesenchymal transition when AP4 was upregulated, and that AP4 regulated p53 expression level suggesting AP4 can regulate cell migration via the activity of p53. (PMID:26037074)
- AP4 and LAPTM4B are highly coexpressed in hepatocellular carcinoma tissues, and their coexpression may be a marker of poor prognosis. (PMID:29337428)
- data suggest that genetic variation in human REPIN1 plays a role in glucose and lipid metabolism by differentially affecting the expression of REPIN1 target genes including glucose and fatty acid transporters (PMID:29915365)
- Increased expression of hsa-mir-127 and decreased expression of REPIN1 were both associated with poor overall survival (PMID:29979259)
- A Human REPIN1 Gene Variant: Genetic Risk Factor for the Development of Nonalcoholic Fatty Liver Disease. (PMID:31922994)
- Overexpression of miR-127 Predicts Poor Prognosis and Contributes to the Progression of Papillary Thyroid Cancer by Targeting REPIN1. (PMID:33339069)
- REPIN1 regulates iron metabolism and osteoblast apoptosis in osteoporosis. (PMID:37749079)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Repin1 | ENSMUSG00000052751 |
| rattus_norvegicus | Repin1 | ENSRNOG00000008239 |
| drosophila_melanogaster | CG14667 | FBGN0037317 |
| caenorhabditis_elegans | WBGENE00016712 |
Protein
Protein identifiers
DNA-binding protein REPIN1 — Q9BWE0 (reviewed: Q9BWE0)
Alternative names: 60 kDa origin-specific DNA-binding protein, 60 kDa replication initiation region protein, ATT-binding protein, DHFR oribeta-binding protein RIP60, Zinc finger protein 464
All UniProt accessions (10): A0A090N8H1, C9J0L4, C9J590, C9J7D4, C9J7L2, C9JYJ8, C9JZE3, E5RK52, E7EVL6, Q9BWE0
UniProt curated annotations — full annotation on UniProt →
Function. Sequence-specific double-stranded DNA-binding protein. Binds ATT-rich and T-rich DNA sequences and facilitates DNA bending. May regulate the expression of genes involved in cellular fatty acid import, including SCARB1/CD36, and genes involved in lipid droplet formation. May regulate the expression of LCN2, and thereby influence iron metabolism and apoptosis-related pathways. May regulate the expression of genes involved in glucose transport.
Subunit / interactions. Homodimers and homomultimers. Found in a complex with RIP60 and RIP100.
Subcellular location. Nucleus. Cytoplasm. Cytosol.
Tissue specificity. Expressed in adipose tissue and bone tissue.
Induction. Expression is increased in bone tissue of osteoporosis patients.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BWE0-3 | 1 | yes |
| Q9BWE0-4 | 2 |
RefSeq proteins (35): NP_001093165, NP_001093166, NP_001349674, NP_001349675, NP_001349676, NP_001374966, NP_001374967, NP_001374968, NP_001374969, NP_001374970, NP_001374971, NP_001374972, NP_001374973, NP_001374974, NP_001374975, NP_001374976, NP_001374977, NP_001374978, NP_001374979, NP_001374980, NP_001374981, NP_001374982, NP_001374983, NP_001374984, NP_001374985, NP_001374986, NP_001374987, NP_001374988, NP_001374989, NP_001374990, NP_001374991, NP_001374992, NP_001374993, NP_001374994, NP_037532 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096
UniProt features (44 total): zinc finger region 15, sequence conflict 12, sequence variant 6, modified residue 4, compositionally biased region 3, region of interest 2, chain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BWE0-F1 | 70.86 | 0.04 |
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 (4): 27, 30, 33, 276
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 204 (showing top):
AHRARNT_01, RNGTGGGC_UNKNOWN, TGCGCANK_UNKNOWN, GOBP_REGULATION_OF_ORGANIC_ACID_TRANSPORT, MODULE_255, AREB6_03, MODULE_317, GOBP_ORGANIC_ACID_TRANSPORT, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_REGULATION_OF_FATTY_ACID_TRANSPORT, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN, GOBP_ORGANIC_ANION_TRANSPORT, ONDER_CDH1_TARGETS_2_UP
GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of fatty acid transport (GO:2000191)
GO Molecular Function (7): RNA binding (GO:0003723), zinc ion binding (GO:0008270), chromatin insulator sequence binding (GO:0043035), sequence-specific DNA binding (GO:0043565), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (6): nucleoplasm (GO:0005654), chromosome (GO:0005694), cytosol (GO:0005829), nuclear membrane (GO:0031965), nucleus (GO:0005634), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| nucleic acid binding | 2 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| fatty acid transport | 1 |
| regulation of lipid transport | 1 |
| regulation of organic acid transport | 1 |
| transition metal ion binding | 1 |
| chromatin DNA binding | 1 |
| DNA binding | 1 |
| binding | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| cytoplasm | 1 |
| nucleus | 1 |
| nuclear envelope | 1 |
| organelle membrane | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
960 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| REPIN1 | NFYB | P25208 | 983 |
| REPIN1 | HAP1 | P54257 | 934 |
| REPIN1 | NFYC | Q13952 | 924 |
| REPIN1 | SMARCB1 | Q12824 | 627 |
| REPIN1 | NFYA | P23511 | 595 |
| REPIN1 | SRD5A2 | P31213 | 519 |
| REPIN1 | F8A2 | P23610 | 480 |
| REPIN1 | AP1S1 | P61966 | 478 |
| REPIN1 | SMARCA2 | P51531 | 469 |
| REPIN1 | RAD9A | Q99638 | 459 |
| REPIN1 | SWI5 | Q1ZZU3 | 445 |
| REPIN1 | ELAC2 | Q9BQ52 | 443 |
| REPIN1 | SMARCA4 | P51532 | 442 |
| REPIN1 | ARHGEF17 | Q96PE2 | 441 |
| REPIN1 | CYP3A4 | P05184 | 439 |
IntAct
58 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TUBGCP5 | TUBG1 | psi-mi:“MI:0914”(association) | 0.840 |
| GDI1 | RAB4A | psi-mi:“MI:0914”(association) | 0.820 |
| PPP2R2C | PPP2R1A | psi-mi:“MI:0914”(association) | 0.730 |
| REPIN1 | IPO8 | psi-mi:“MI:0914”(association) | 0.640 |
| KCTD17 | CBX4 | psi-mi:“MI:0914”(association) | 0.530 |
| SET | REPIN1 | psi-mi:“MI:0914”(association) | 0.530 |
| REPIN1 | SET | psi-mi:“MI:0914”(association) | 0.530 |
| Dlg4 | REPIN1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| Set | ZKSCAN1 | psi-mi:“MI:0914”(association) | 0.350 |
| IPO8 | BIN1 | psi-mi:“MI:0914”(association) | 0.350 |
| Zbtb48 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| PDLIM7 | TPM1 | psi-mi:“MI:0914”(association) | 0.350 |
| CDC23 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| LDHD | METTL8 | psi-mi:“MI:0914”(association) | 0.350 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| KCTD17 | CBX4 | psi-mi:“MI:0914”(association) | 0.350 |
| REPIN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| DGCR8 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| CNBP | NOP56 | psi-mi:“MI:0914”(association) | 0.350 |
| CLK2 | CASC3 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP2R2C | TCP1 | psi-mi:“MI:0914”(association) | 0.350 |
| SET | HSPA14 | psi-mi:“MI:0914”(association) | 0.350 |
| DOCK3 | SEC16A | psi-mi:“MI:0914”(association) | 0.350 |
| SET | WDR46 | psi-mi:“MI:0914”(association) | 0.350 |
| rl3_rl3l_human | NKRF | psi-mi:“MI:0914”(association) | 0.350 |
| REPIN1 | POTEB | psi-mi:“MI:0914”(association) | 0.350 |
| TRIM23 | POTEB | psi-mi:“MI:0914”(association) | 0.350 |
| LDLRAD1 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (151): REPIN1 (Affinity Capture-MS), REPIN1 (Affinity Capture-MS), REPIN1 (Affinity Capture-MS), REPIN1 (Affinity Capture-MS), REPIN1 (Affinity Capture-MS), REPIN1 (Affinity Capture-MS), REPIN1 (Affinity Capture-MS), REPIN1 (Affinity Capture-MS), REPIN1 (Affinity Capture-MS), REPIN1 (Affinity Capture-MS), REPIN1 (Affinity Capture-MS), REPIN1 (Affinity Capture-MS), REPIN1 (Affinity Capture-MS), REPIN1 (Affinity Capture-MS), REPIN1 (Affinity Capture-MS)
ESM2 similar proteins: A3KN32, A6NM28, A8K8V0, E9PYI1, O75467, O95201, P10072, P10075, P10078, P10754, P28698, P30373, P52736, Q0VCC5, Q14929, Q16587, Q17QR7, Q29RZ4, Q3KNW1, Q3TDE8, Q3US17, Q58DK7, Q5RJR4, Q5T619, Q5TEC3, Q5U4E2, Q62396, Q68H95, Q6AW86, Q6PGE4, Q6ZMY9, Q7Z398, Q7Z7K2, Q8BI73, Q8BIF9, Q8BIQ3, Q8BKK5, Q8JZL0, Q8N393, Q8R0T2
Diamond homologs: Q0VCC5, Q5U4E2, Q68H95, Q966L8, Q96EG3, Q9BWE0, Q9UDV6, P30373, A0A9P4XV22, O75290, Q5R8X1, Q62255, Q9BXA9, Q9ER74, Q9H7R5, Q9NSC2, Q9NW07
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 77 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 |
|---|---|---|---|
| rRNA modification in the nucleus and cytosol | 5 | 19.1× | 3e-03 |
| Major pathway of rRNA processing in the nucleolus and cytosol | 7 | 8.8× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ribosomal small subunit biogenesis | 6 | 21.0× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
112 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 104 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
662 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:150368937:CAGAG:C | donor_loss | 0.9900 |
| 7:150368938:AGAGG:A | donor_loss | 0.9900 |
| 7:150368939:GAG:G | donor_gain | 0.9900 |
| 7:150368940:AGGT:A | donor_loss | 0.9900 |
| 7:150368941:GGTA:G | donor_loss | 0.9900 |
| 7:150368942:GTAC:G | donor_loss | 0.9900 |
| 7:150368943:T:A | donor_loss | 0.9900 |
| 7:150369867:GG:G | donor_gain | 0.9900 |
| 7:150369868:GG:G | donor_gain | 0.9900 |
| 7:150369869:G:T | donor_gain | 0.9900 |
| 7:150370349:G:GT | donor_gain | 0.9900 |
| 7:150371226:A:AG | acceptor_gain | 0.9900 |
| 7:150371227:G:GG | acceptor_gain | 0.9900 |
| 7:150371227:GCA:G | acceptor_gain | 0.9900 |
| 7:150369800:G:GT | donor_gain | 0.9800 |
| 7:150369448:G:T | donor_gain | 0.9700 |
| 7:150369800:G:T | donor_gain | 0.9700 |
| 7:150371229:A:AG | acceptor_gain | 0.9700 |
| 7:150371230:G:GG | acceptor_gain | 0.9700 |
| 7:150368942:G:GG | donor_gain | 0.9600 |
| 7:150369014:G:GG | donor_gain | 0.9600 |
| 7:150369945:A:T | donor_gain | 0.9600 |
| 7:150369190:G:GG | donor_gain | 0.9500 |
| 7:150369297:G:T | donor_gain | 0.9500 |
| 7:150369944:G:GT | donor_gain | 0.9500 |
| 7:150371228:CAG:C | acceptor_gain | 0.9500 |
| 7:150371229:AGA:A | acceptor_gain | 0.9500 |
| 7:150371230:GAG:G | acceptor_gain | 0.9500 |
| 7:150369241:G:GT | donor_gain | 0.9400 |
| 7:150371227:GCAGA:G | acceptor_gain | 0.9400 |
AlphaMissense
4033 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:150372058:T:C | F273L | 1.000 |
| 7:150372059:T:C | F273S | 1.000 |
| 7:150372060:T:A | F273L | 1.000 |
| 7:150372060:T:G | F273L | 1.000 |
| 7:150372142:T:C | F301L | 1.000 |
| 7:150372143:T:C | F301S | 1.000 |
| 7:150372144:C:A | F301L | 1.000 |
| 7:150372144:C:G | F301L | 1.000 |
| 7:150372622:T:C | C461R | 1.000 |
| 7:150372643:T:C | F468L | 1.000 |
| 7:150372645:C:A | F468L | 1.000 |
| 7:150372645:C:G | F468L | 1.000 |
| 7:150372706:T:C | C489R | 1.000 |
| 7:150372727:T:A | F496I | 1.000 |
| 7:150372727:T:C | F496L | 1.000 |
| 7:150372728:T:C | F496S | 1.000 |
| 7:150372729:C:A | F496L | 1.000 |
| 7:150372729:C:G | F496L | 1.000 |
| 7:150372754:C:G | H505D | 1.000 |
| 7:150372811:T:C | F524L | 1.000 |
| 7:150372813:C:A | F524L | 1.000 |
| 7:150372813:C:G | F524L | 1.000 |
| 7:150371974:T:C | F245L | 0.999 |
| 7:150371975:T:C | F245S | 0.999 |
| 7:150371976:C:A | F245L | 0.999 |
| 7:150371976:C:G | F245L | 0.999 |
| 7:150371993:T:C | L251S | 0.999 |
| 7:150372037:T:C | C266R | 0.999 |
| 7:150372046:T:A | C269S | 0.999 |
| 7:150372046:T:C | C269R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000075065 (7:150372861 C>T), RS1000447807 (7:150370214 C>A), RS1000466308 (7:150371106 C>A,T), RS1001020169 (7:150368744 C>T), RS1001740394 (7:150369682 C>T), RS1002016701 (7:150368173 C>T), RS1003694166 (7:150366697 C>T), RS1003746664 (7:150366598 C>T), RS1003854813 (7:150371754 C>T), RS1004311794 (7:150371449 G>A,T), RS1004324071 (7:150367648 T>A,C), RS1004498391 (7:150373953 T>C), RS1004871180 (7:150374177 G>A), RS1005238709 (7:150372278 C>A,G,T), RS1005578291 (7:150370083 C>T)
Disease associations
OMIM: gene MIM:619039 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004389_5 | Circulating chemerin levels | 2.000000e-10 |
| GCST004389_6 | Circulating chemerin levels | 9.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004573 | chemerin measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression | 2 |
| Arsenic Trioxide | increases expression, affects cotreatment | 2 |
| Valproic Acid | affects expression, increases methylation | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| FR900359 | affects phosphorylation | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases abundance | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| mono-isobutyl phthalate | increases methylation | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Acrolein | affects cotreatment, decreases expression, increases abundance | 1 |
| Air Pollutants | affects cotreatment, decreases expression, increases abundance | 1 |
| Amiodarone | increases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Chromium | decreases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Estradiol | decreases expression, affects cotreatment | 1 |
| Ozone | affects cotreatment, decreases expression, increases abundance | 1 |
| Plant Extracts | decreases expression, affects cotreatment | 1 |
Cellosaurus cell lines
5 cell lines: 3 embryonic stem cell, 2 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A5U7 | SEES3-1V human REPIN1, clone1 | Embryonic stem cell | Male |
| CVCL_A5U8 | SEES3-1V human REPIN1, clone2 | Embryonic stem cell | Male |
| CVCL_A5U9 | SEES3-1V human REPIN1, clone3 | Embryonic stem cell | Male |
| CVCL_B3FX | Abcam HEK293T REPIN1 KO | Transformed cell line | Female |
| CVCL_XV77 | HEK293 eGFP-REPIN1 | Transformed cell line | Female |
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.