ARFIP1
gene geneOn this page
Also known as HSU52521
Summary
ARFIP1 (ARF interacting protein 1, HGNC:21496) is a protein-coding gene on chromosome 4q31.3, encoding Arfaptin-1 (P53367). Plays a role in controlling biogenesis of secretory granules at the trans-Golgi network.
Enables phosphatidylinositol-4-phosphate binding activity. Involved in negative regulation of retrograde transport, endosome to Golgi. Acts upstream of or within intracellular protein transport and regulation of protein secretion. Located in Golgi membrane; cytosol; and trans-Golgi network membrane.
Source: NCBI Gene 27236 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 63 total — 1 pathogenic, 3 likely-pathogenic
- MANE Select transcript:
NM_001025595
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21496 |
| Approved symbol | ARFIP1 |
| Name | ARF interacting protein 1 |
| Location | 4q31.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HSU52521 |
| Ensembl gene | ENSG00000164144 |
| Ensembl biotype | protein_coding |
| OMIM | 605928 |
| Entrez | 27236 |
Gene structure
Transcript identifiers
Ensembl transcripts: 55 — 49 protein_coding, 6 protein_coding_CDS_not_defined
ENST00000353617, ENST00000356064, ENST00000405727, ENST00000429148, ENST00000451320, ENST00000509413, ENST00000510497, ENST00000510831, ENST00000511289, ENST00000513361, ENST00000514499, ENST00000891682, ENST00000891683, ENST00000891684, ENST00000891685, ENST00000891686, ENST00000891687, ENST00000891688, ENST00000891689, ENST00000891690, ENST00000891691, ENST00000891692, ENST00000891693, ENST00000891694, ENST00000891695, ENST00000891696, ENST00000891697, ENST00000891698, ENST00000891699, ENST00000891700, ENST00000891701, ENST00000891702, ENST00000891703, ENST00000914065, ENST00000914066, ENST00000914067, ENST00000914068, ENST00000914069, ENST00000914070, ENST00000914071, ENST00000914072, ENST00000914073, ENST00000914074, ENST00000914075, ENST00000914076, ENST00000914077, ENST00000914078, ENST00000914079, ENST00000914080, ENST00000955260, ENST00000955261, ENST00000955262, ENST00000955263, ENST00000955264, ENST00000955265
RefSeq mRNA: 6 — MANE Select: NM_001025595
NM_001025593, NM_001025595, NM_001287431, NM_001287432, NM_001287433, NM_014447
CCDS: CCDS34080, CCDS3780
Canonical transcript exons
ENST00000353617 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001434477 | 152779954 | 152780226 |
| ENSE00003474697 | 152870753 | 152870848 |
| ENSE00003525254 | 152888133 | 152888307 |
| ENSE00003544398 | 152863606 | 152863714 |
| ENSE00003566580 | 152872452 | 152872564 |
| ENSE00003893125 | 152882723 | 152882880 |
| ENSE00003893849 | 152910064 | 152912357 |
| ENSE00003895713 | 152880963 | 152881184 |
| ENSE00003895784 | 152829625 | 152829726 |
Expression profiles
Bgee: expression breadth ubiquitous, 284 present calls, max score 97.05.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.5961 / max 896.0929, expressed in 1810 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 50031 | 20.5656 | 1806 |
| 50035 | 1.6864 | 114 |
| 50030 | 0.8351 | 380 |
| 50032 | 0.3814 | 180 |
| 50036 | 0.1277 | 26 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 97.05 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 96.83 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 95.36 | gold quality |
| visceral pleura | UBERON:0002401 | 94.75 | gold quality |
| tibia | UBERON:0000979 | 94.62 | gold quality |
| parietal pleura | UBERON:0002400 | 94.22 | gold quality |
| pleura | UBERON:0000977 | 94.02 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 93.85 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.80 | gold quality |
| colonic mucosa | UBERON:0000317 | 93.71 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 93.47 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 93.45 | gold quality |
| amniotic fluid | UBERON:0000173 | 93.36 | gold quality |
| oocyte | CL:0000023 | 93.19 | gold quality |
| squamous epithelium | UBERON:0006914 | 92.98 | gold quality |
| endometrium | UBERON:0001295 | 92.87 | gold quality |
| rectum | UBERON:0001052 | 92.80 | gold quality |
| sperm | CL:0000019 | 92.70 | gold quality |
| gingival epithelium | UBERON:0001949 | 92.30 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 92.07 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.02 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 92.02 | gold quality |
| islet of Langerhans | UBERON:0000006 | 91.94 | gold quality |
| seminal vesicle | UBERON:0000998 | 91.77 | gold quality |
| corpus epididymis | UBERON:0004359 | 91.48 | gold quality |
| gingiva | UBERON:0001828 | 90.98 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 90.85 | gold quality |
| bronchial epithelial cell | CL:0002328 | 90.74 | gold quality |
| skin of hip | UBERON:0001554 | 90.51 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 90.40 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.23 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
107 targeting ARFIP1, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| 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-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
Literature-anchored findings (GeneRIF, showing 2)
- inhibits ADP-ribosylation factor-dependent matrix metalloproteinase-9 secretion induced by phorbol ester in fibrosarcoma cells (PMID:12606037)
- The binding of arfaptin1, but not arfaptin2, to PI(4)P is regulated by protein kinase D (PKD) mediated phosphorylation at Ser100 within the AH. (PMID:23695357)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | arfip1 | ENSDARG00000070055 |
| mus_musculus | Arfip1 | ENSMUSG00000074513 |
| rattus_norvegicus | Arfip1 | ENSRNOG00000010533 |
| drosophila_melanogaster | Arfip | FBGN0037884 |
| caenorhabditis_elegans | WBGENE00010040 |
Paralogs (2): PICK1 (ENSG00000100151), ARFIP2 (ENSG00000132254)
Protein
Protein identifiers
Arfaptin-1 — P53367 (reviewed: P53367)
Alternative names: ADP-ribosylation factor-interacting protein 1
All UniProt accessions (2): B4E273, P53367
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in controlling biogenesis of secretory granules at the trans-Golgi network. Mechanistically, binds ARF-GTP at the neck of a growing secretory granule precursor and forms a protective scaffold. Once the granule precursor has been completely loaded, active PRKD1 phosphorylates ARFIP1 and releases it from ARFs. In turn, ARFs induce fission. Through this mechanism, ensures proper secretory granule formation at the Golgi of pancreatic beta cells.
Subunit / interactions. Forms homodimers or heterodimers with ARFIP2. Interacts with non-myristoylated GTP-bound ARF3, but not to GDP-bound ARF3. Interacts with ARF1. Binds with lower affinity to ARF5 and with very little affinity to ARF6. Interacts with ARL1. Interacts with ATG9A.
Subcellular location. Golgi apparatus. trans-Golgi network membrane.
Tissue specificity. Ubiquitously expressed. Higher levels in liver, pancreas, placenta, skeletal muscle and heart.
Post-translational modifications. Phosphorylated by PRKD1; phosphorylation delocalizes ARFIP1 from the Golgi and disrupts its ability to inhibit the activity of ADP-ribosylation factor, an important component of the vesicle scission machinery.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P53367-1 | B, 1b | yes |
| P53367-2 | A, 1a | |
| P53367-3 | 3 |
RefSeq proteins (6): NP_001020764, NP_001020766, NP_001274360, NP_001274361, NP_001274362, NP_055262 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR010504 | AH_dom | Domain |
| IPR027267 | AH/BAR_dom_sf | Homologous_superfamily |
| IPR030798 | Arfaptin_fam | Family |
Pfam: PF06456
UniProt features (17 total): modified residue 9, splice variant 2, initiator methionine 1, chain 1, mutagenesis site 1, domain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P53367-F1 | 76.85 | 0.59 |
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 (9): 69, 79, 132, 361, 2, 5, 28, 36, 39
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 132 | complete loss of phosphorylation by prkd1. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 223 (showing top):
MULLIGHAN_NPM1_SIGNATURE_3_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_REGULATION_OF_ACTIN_NUCLEATION, GOBP_VESICLE_MEDIATED_TRANSPORT, GGGTGGRR_PAX4_03, SP1_Q2_01, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GTGCCTT_MIR506, HOFMANN_MYELODYSPLASTIC_SYNDROM_RISK_DN, GOBP_REGULATION_OF_PROTEIN_SECRETION, GOBP_NEGATIVE_REGULATION_OF_TRANSPORT, GOCC_TRANS_GOLGI_NETWORK, TGCTGAY_UNKNOWN, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION
GO Biological Process (5): intracellular protein transport (GO:0006886), regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315), regulation of protein secretion (GO:0050708), negative regulation of retrograde transport, endosome to Golgi (GO:1905280), intracellular protein localization (GO:0008104)
GO Molecular Function (4): phospholipid binding (GO:0005543), protein domain specific binding (GO:0019904), phosphatidylinositol-4-phosphate binding (GO:0070273), protein binding (GO:0005515)
GO Cellular Component (5): Golgi membrane (GO:0000139), cytosol (GO:0005829), trans-Golgi network membrane (GO:0032588), Golgi apparatus (GO:0005794), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 2 |
| cellular anatomical structure | 2 |
| intracellular protein localization | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| Arp2/3 complex-mediated actin nucleation | 1 |
| regulation of actin nucleation | 1 |
| protein secretion | 1 |
| regulation of protein transport | 1 |
| regulation of secretion by cell | 1 |
| negative regulation of intracellular transport | 1 |
| retrograde transport, endosome to Golgi | 1 |
| regulation of retrograde transport, endosome to Golgi | 1 |
| macromolecule localization | 1 |
| lipid binding | 1 |
| protein binding | 1 |
| anion binding | 1 |
| phosphatidylinositol phosphate binding | 1 |
| binding | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| trans-Golgi network | 1 |
| organelle membrane | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1038 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARFIP1 | ARF6 | P26438 | 900 |
| ARFIP1 | AKT1 | P31749 | 834 |
| ARFIP1 | ARF5 | P26437 | 800 |
| ARFIP1 | ARF1 | P10947 | 791 |
| ARFIP1 | ARF3 | P16587 | 745 |
| ARFIP1 | RAC1 | P15154 | 660 |
| ARFIP1 | AMPH | P49418 | 605 |
| ARFIP1 | TIGD4 | Q8IY51 | 591 |
| ARFIP1 | ICA1 | P78506 | 551 |
| ARFIP1 | BIN1 | O00499 | 547 |
| ARFIP1 | CDKN2A | P42771 | 537 |
| ARFIP1 | TMEM154 | Q6P9G4 | 532 |
| ARFIP1 | NCF2 | P19878 | 525 |
| ARFIP1 | COPB1 | P53618 | 520 |
| ARFIP1 | TMEM131L | A2VDJ0 | 492 |
IntAct
102 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HSPA8 | GAK | psi-mi:“MI:0914”(association) | 0.760 |
| ARFIP2 | ARFIP1 | psi-mi:“MI:0915”(physical association) | 0.750 |
| ARFIP2 | ARFIP1 | psi-mi:“MI:0914”(association) | 0.750 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| ARFIP1 | ARL1 | psi-mi:“MI:0915”(physical association) | 0.640 |
| ARFIP1 | ARL1 | psi-mi:“MI:0914”(association) | 0.640 |
| ARFIP1 | AFF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARFIP1 | MAGEA6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARFIP1 | CMTM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARFIP1 | KRT27 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMPD2 | ARFIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARFIP1 | KRT33B | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARFIP1 | SMIM5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCAMP1 | ARFIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARFIP1 | RPRM | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARFIP1 | BSND | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARFIP1 | SFT2D1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARFIP1 | TNFRSF10D | psi-mi:“MI:0915”(physical association) | 0.560 |
| SYNGR3 | ARFIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARFIP1 | DESI2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AFF1 | ARFIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PICK1 | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| BAG2 | HGS | psi-mi:“MI:0914”(association) | 0.530 |
| PICK1 | ATP6AP2 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (175): ARFIP1 (Affinity Capture-MS), ARFIP1 (Affinity Capture-MS), AACS (Co-fractionation), AKR1A1 (Co-fractionation), ARFIP1 (Co-fractionation), ARFIP1 (Co-fractionation), ARFIP1 (Co-fractionation), ARFIP1 (Co-fractionation), ARFIP1 (Co-fractionation), ARFIP1 (Co-fractionation), ARFIP1 (Co-fractionation), ARFIP1 (Co-fractionation), ARFIP1 (Co-fractionation), ARFIP1 (Co-fractionation), ARFIP1 (Co-fractionation)
ESM2 similar proteins: A1A4L0, A6H6A9, B4F779, G5E8V9, O35382, O60890, O95219, P0CAX5, P53365, P53367, Q08DP6, Q28E02, Q3ZCL5, Q4V7P7, Q566W7, Q5EAD0, Q5R4C2, Q5RCW6, Q5T0N5, Q5VWJ9, Q5ZJ17, Q60437, Q62824, Q6AY65, Q6GMN2, Q6PCS4, Q6Y5D8, Q6ZQ82, Q7YQL5, Q7YQL6, Q80TY0, Q8BHY8, Q8BKX1, Q8CE50, Q8K221, Q8K3G9, Q8K3H0, Q8N6S4, Q8NEU8, Q8R511
Diamond homologs: G5E8V9, P34445, P53365, P53367, Q3ZCL5, Q6AY65, Q8K221, Q9JHU5
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PRKD1 | up-regulates | ARFIP1 | phosphorylation |
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 |
|---|---|---|---|
| Intra-Golgi and retrograde Golgi-to-ER traffic | 6 | 15.3× | 7e-04 |
| Clathrin-mediated endocytosis | 6 | 12.5× | 1e-03 |
| Membrane Trafficking | 8 | 7.2× | 1e-03 |
| Vesicle-mediated transport | 8 | 6.8× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
63 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 3 |
| Uncertain significance | 45 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (4)
| Variant ID | HGVS | Classification |
|---|---|---|
| 442937 | GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1 | Pathogenic |
| 146396 | GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1 | Likely pathogenic |
| 155550 | GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3 | Likely pathogenic |
| 814616 | GRCh37/hg19 4q31.3-32.1(chr4:153061243-157994448)x1 | Likely pathogenic |
SpliceAI
3288 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:152829617:T:TA | acceptor_gain | 1.0000 |
| 4:152829621:TTA:T | acceptor_loss | 1.0000 |
| 4:152829621:TTAGG:T | acceptor_gain | 1.0000 |
| 4:152829622:TA:T | acceptor_loss | 1.0000 |
| 4:152829622:TAGG:T | acceptor_gain | 1.0000 |
| 4:152829623:A:AG | acceptor_gain | 1.0000 |
| 4:152829623:A:AT | acceptor_loss | 1.0000 |
| 4:152829623:AG:A | acceptor_gain | 1.0000 |
| 4:152829623:AGGA:A | acceptor_gain | 1.0000 |
| 4:152829624:G:GC | acceptor_gain | 1.0000 |
| 4:152829624:GG:G | acceptor_gain | 1.0000 |
| 4:152829624:GGA:G | acceptor_gain | 1.0000 |
| 4:152829624:GGAG:G | acceptor_gain | 1.0000 |
| 4:152829624:GGAGT:G | acceptor_gain | 1.0000 |
| 4:152829723:TAGG:T | donor_gain | 1.0000 |
| 4:152829725:GG:G | donor_gain | 1.0000 |
| 4:152829726:GG:G | donor_gain | 1.0000 |
| 4:152829727:G:GG | donor_gain | 1.0000 |
| 4:152863593:A:AG | acceptor_gain | 1.0000 |
| 4:152863594:A:G | acceptor_gain | 1.0000 |
| 4:152863596:T:G | acceptor_gain | 1.0000 |
| 4:152870825:G:GT | donor_gain | 1.0000 |
| 4:152872449:CAG:C | acceptor_loss | 1.0000 |
| 4:152872450:A:AG | acceptor_gain | 1.0000 |
| 4:152872450:AGGT:A | acceptor_gain | 1.0000 |
| 4:152872451:G:GA | acceptor_gain | 1.0000 |
| 4:152872451:GGT:G | acceptor_gain | 1.0000 |
| 4:152872451:GGTG:G | acceptor_gain | 1.0000 |
| 4:152872560:ATAAG:A | donor_loss | 1.0000 |
| 4:152872561:TAAG:T | donor_loss | 1.0000 |
AlphaMissense
2456 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:152872544:T:A | W131R | 1.000 |
| 4:152872544:T:C | W131R | 1.000 |
| 4:152872546:G:C | W131C | 1.000 |
| 4:152872546:G:T | W131C | 1.000 |
| 4:152872559:T:G | Y136D | 1.000 |
| 4:152872564:G:C | K137N | 1.000 |
| 4:152872564:G:T | K137N | 1.000 |
| 4:152880973:A:C | Q141P | 1.000 |
| 4:152880981:T:C | S144P | 1.000 |
| 4:152881138:T:C | L196P | 1.000 |
| 4:152882880:G:C | R264T | 1.000 |
| 4:152882880:G:T | R264M | 1.000 |
| 4:152888133:G:C | R264S | 1.000 |
| 4:152888133:G:T | R264S | 1.000 |
| 4:152888146:G:C | A269P | 1.000 |
| 4:152888147:C:A | A269E | 1.000 |
| 4:152888152:C:A | R271S | 1.000 |
| 4:152888153:G:C | R271P | 1.000 |
| 4:152888264:G:C | R308P | 1.000 |
| 4:152888294:T:C | L318P | 1.000 |
| 4:152910086:T:C | L330P | 1.000 |
| 4:152872536:T:A | V128D | 0.999 |
| 4:152872547:A:C | S132R | 0.999 |
| 4:152872549:T:A | S132R | 0.999 |
| 4:152872549:T:G | S132R | 0.999 |
| 4:152872562:A:G | K137E | 0.999 |
| 4:152880970:G:C | R140P | 0.999 |
| 4:152880974:G:C | Q141H | 0.999 |
| 4:152880974:G:T | Q141H | 0.999 |
| 4:152880979:T:A | I143N | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000014776 (4:152891789 A>G), RS1000018955 (4:152824293 A>G), RS1000037858 (4:152803689 A>G), RS1000044015 (4:152904760 G>A,C,T), RS1000063526 (4:152805626 G>A), RS1000120434 (4:152781902 T>C), RS1000145152 (4:152894394 T>C), RS1000168153 (4:152779905 T>C), RS1000202950 (4:152800923 G>A), RS1000223088 (4:152870412 T>A), RS1000234607 (4:152889923 T>G), RS1000267239 (4:152889176 C>G), RS1000272024 (4:152870697 G>A), RS1000281782 (4:152837274 T>C), RS1000291368 (4:152784617 T>C)
Disease associations
OMIM: gene MIM:605928 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90002385_261 | High light scatter reticulocyte count | 2.000000e-12 |
| GCST90002386_8 | High light scatter reticulocyte percentage of red cells | 2.000000e-12 |
| GCST90002395_657 | Mean platelet volume | 5.000000e-15 |
| GCST90002404_89 | Red cell distribution width | 1.000000e-38 |
| GCST90002406_100 | Reticulocyte fraction of red cells | 2.000000e-12 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007986 | reticulocyte count |
| EFO:0009188 | Red cell distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, decreases expression | 3 |
| bisphenol A | decreases expression, affects cotreatment, increases methylation | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| geldanamycin | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | increases abundance, affects cotreatment, decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| 1-nitropyrene | increases expression | 1 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases abundance | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | decreases ADP-ribosylation | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2S0 | Abcam HEK293T ARFIP1 KO | 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.