CRABP1
gene geneOn this page
Also known as CRABPCRABP-ICRABPI
Summary
CRABP1 (cellular retinoic acid binding protein 1, HGNC:2338) is a protein-coding gene on chromosome 15q25.1, encoding Cellular retinoic acid-binding protein 1 (P29762). Cytosolic CRABPs may regulate the access of retinoic acid to the nuclear retinoic acid receptors.
This gene encodes a specific binding protein for a vitamin A family member and is thought to play an important role in retinoic acid-mediated differentiation and proliferation processes. It is structurally similar to the cellular retinol-binding proteins, but binds only retinoic acid at specific sites within the nucleus, which may contribute to vitamin A-directed differentiation in epithelial tissue.
Source: NCBI Gene 1381 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 16 total
- Druggable target: yes
- MANE Select transcript:
NM_004378
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2338 |
| Approved symbol | CRABP1 |
| Name | cellular retinoic acid binding protein 1 |
| Location | 15q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CRABP, CRABP-I, CRABPI |
| Ensembl gene | ENSG00000166426 |
| Ensembl biotype | protein_coding |
| OMIM | 180230 |
| Entrez | 1381 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 7 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000299529, ENST00000406419, ENST00000560753, ENST00000923226, ENST00000923227, ENST00000923228, ENST00000923229, ENST00000923230, ENST00000923231
RefSeq mRNA: 1 — MANE Select: NM_004378
NM_004378
CCDS: CCDS10301
Canonical transcript exons
ENST00000299529 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001102851 | 78341043 | 78341221 |
| ENSE00001159810 | 78340353 | 78340498 |
| ENSE00001818207 | 78347927 | 78348225 |
| ENSE00003508772 | 78343499 | 78343612 |
Expression profiles
Bgee: expression breadth ubiquitous, 202 present calls, max score 96.98.
FANTOM5 (CAGE): breadth broad, TPM avg 61.0604 / max 3765.2742, expressed in 514 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 147898 | 61.0134 | 514 |
| 147902 | 0.0470 | 26 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left lobe of thyroid gland | UBERON:0001120 | 96.98 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 96.63 | gold quality |
| thyroid gland | UBERON:0002046 | 96.43 | gold quality |
| caudate nucleus | UBERON:0001873 | 93.75 | gold quality |
| nucleus accumbens | UBERON:0001882 | 93.32 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 91.80 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.76 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 91.70 | gold quality |
| spleen | UBERON:0002106 | 91.42 | gold quality |
| putamen | UBERON:0001874 | 90.40 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 89.95 | gold quality |
| hypothalamus | UBERON:0001898 | 89.24 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.99 | gold quality |
| ventral tegmental area | UBERON:0002691 | 84.93 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 83.76 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 83.52 | gold quality |
| spinal cord | UBERON:0002240 | 83.17 | gold quality |
| prefrontal cortex | UBERON:0000451 | 82.28 | gold quality |
| amygdala | UBERON:0001876 | 81.84 | gold quality |
| midbrain | UBERON:0001891 | 81.50 | gold quality |
| substantia nigra | UBERON:0002038 | 81.05 | gold quality |
| right frontal lobe | UBERON:0002810 | 80.73 | gold quality |
| embryo | UBERON:0000922 | 79.78 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 79.58 | gold quality |
| oocyte | CL:0000023 | 79.30 | gold quality |
| cingulate cortex | UBERON:0003027 | 78.63 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 78.55 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 78.39 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 78.06 | gold quality |
| medulla oblongata | UBERON:0001896 | 78.04 | gold quality |
Single-cell (SCXA)
Detected in 15 experiment(s), a significant marker in 13.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8894 | yes | 15750.14 |
| E-GEOD-137537 | yes | 7879.72 |
| E-HCAD-56 | yes | 4650.72 |
| E-MTAB-7316 | yes | 4205.63 |
| E-GEOD-124472 | yes | 3130.60 |
| E-MTAB-10485 | yes | 3002.41 |
| E-HCAD-5 | yes | 2857.70 |
| E-GEOD-93593 | yes | 2107.43 |
| E-MTAB-7407 | yes | 1750.11 |
| E-GEOD-98556 | yes | 1381.99 |
| E-CURD-6 | yes | 27.66 |
| E-MTAB-9388 | yes | 13.62 |
| E-MTAB-10042 | yes | 8.11 |
| E-MTAB-6108 | no | 4005.94 |
| E-ANND-3 | no | 1.73 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AP1, EP300, HES1, HOXB1, JUN, NR2C1, RARA, TP63, ZBTB16
miRNA regulators (miRDB)
8 targeting CRABP1, 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-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-5088-3P | 98.29 | 66.63 | 1310 |
| HSA-MIR-6783-5P | 97.67 | 67.21 | 1528 |
| HSA-MIR-324-5P | 95.68 | 65.20 | 560 |
| HSA-MIR-1973 | 93.96 | 64.98 | 81 |
Literature-anchored findings (GeneRIF, showing 28)
- Loss of cellular retinoic acid binding protein 1 function due to hypermethylation of its promoter leads to pathogenesis of papillary thyroid carcinoma (PMID:12640681)
- CSF of Moyamoya Disease [MMD] patients reveals high CRABP-I expression suggesting that the elevation of CRABP-I in CSF may be a candidate for pathogenesis of MMD (PMID:14605320)
- CRABP I plays an important role not only in mediating the retinoid effects, but also in modulating the radiation sensitivity of tumour cells after combined retinoic acid radiation treatment. (PMID:14713576)
- increased CYP26-mediated catabolism of retinoic by CRABP-I transfection might decrease the amount of retinoic acid that is accessible to the nuclear receptors (PMID:15281009)
- Decreases in the CRABP1 (cellular retinoic acid binding protein 1) and TFF3 (trefoil factor 3) expression levels identified these as candidate molecular biomarkers for papillary thyroid carcinoma. (PMID:15515157)
- Real-time RT-PCR analysis disclosed a significant lack of CRABP-I expression in four renal cell carcinoma cell lines (PMID:16254461)
- Hypermethylation was subsequently identified for three of four analyzed genes, ADAMTS1 (85%), CRABP1 (90%), and NR3C1 (35%). (PMID:17167179)
- Frequent methylation-associated silencing of CRABP1 is associated with esophageal squamous-cell carcinoma (PMID:17438526)
- DNA hypermethylation of tumour suppressor genes seems to play an important role in ovarian carcinogenesis and HOXA9, HOXB5, SCGB3A1, and CRABP1 are identified as novel hypermethylated target genes in this tumour type (PMID:17623056)
- As epidermal basal keratinocyte proliferation is stimulated by paracrine growth factors secreted by ATRA activated suprabasal keratinocytes, our results indicate that CRABPI overexpression in suprabasal keratinocytes enhances ATRA. (PMID:17727842)
- supports an active role for PLZF and RARalpha-PLZF in leukemogenesis, identifies up-regulation of CRABPI (PMID:18000064)
- The authors identified several dysregulated genes and proteins, but only the cellular retinoic acid binding protein 1 (CRABP1) was up-regulated exclusively in cells expressing an increased Abeta42/Abeta40 ratio. (PMID:19087254)
- reduced expression of CRABP1 has a potential as a prognostic marker for serous adenocarcinoma which is the most frequent histological ovarian tumor type and also for clear cell carcinoma that often exhibits chemo-resistance. (PMID:20571827)
- Results describe the mRNA expression of CRABP1, RERG, and GRP in pituitary adenomas. (PMID:21270509)
- Factors involved in the retinoid pathway, in particular upregulation of CRBP, CRABP1 and CRABP2, also showed differential expression in tumors with different histological subtypes (PMID:24269351)
- the first evidence of pro-tumorigenic and pro-metastatic activity of CRABP1 in mesenchymal and neuroendocrine tumors. (PMID:24626200)
- we demonstrated significant changes in CRABP1 and CRABP2 expression in non-small cell lung cancer samples (PMID:25034531)
- miR-93/miR-106b/miR-375-CIC-CRABP1 is a novel key regulatory axis in prostate cancer progression (PMID:26124181)
- CRABP1 expression is maintained in ER- and triple-negative breast tumors, and that elevated levels of CRABP1 is a significant indicator of high tumor grade, Ki67 immunoreactivity, and poor prognosis. (PMID:26142905)
- p75NTR and CRABP1 modulate the effect of fenretinide on neuroblastoma cells (PMID:26843908)
- Holo-CRABPs had higher affinity for CYP26B1 than free atRA, but both apo-CRABPs(CRABP-I and CRABP-II ) inhibited the formation of 4-OH-RA by CYP26B1. (PMID:27416800)
- We conclude that the underexpression of CRABP1 and the overexpression of LCN2 may be useful diagnostic biomarkers in thyroid tumours with questionable malignity, and the overexpression of LCN2 and C1QL1 may be useful for prognostic purposes. (PMID:29321030)
- Regulation of Hepatitis C Virus Infection by Cellular Retinoic Acid Binding Proteins through the Modulation of Lipid Droplet Abundance. (PMID:30728260)
- These are supported by the fact that CRABP1 gene knockout (KO) mice exhibit multiple phenotypes including hippocampal NSC expansion and spontaneous cardiac hypertrophy. This indicates that more potential processes/signaling pathways involving atRA-CRABP1 may exist, which remain to be identified. (PMID:31344789)
- Cellular Retinoic-Acid Binding Protein 2 in Solid Tumor. (PMID:32013828)
- Sonic Hedgehog-Gli1 Signaling and Cellular Retinoic Acid Binding Protein 1 Gene Regulation in Motor Neuron Differentiation and Diseases. (PMID:32527063)
- CRABP1 and CRABP2 Protein Levels Correlate with Each Other but Do Not Correlate with Sensitivity of Breast Cancer Cells to Retinoic Acid. (PMID:33832420)
- Expression of cellular retinoic acid binding protein 1 predicts peritoneal recurrence of gastric cancer. (PMID:35417033)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | crabp1b | ENSDARG00000035904 |
| danio_rerio | crabp1a | ENSDARG00000045926 |
| mus_musculus | Crabp1 | ENSMUSG00000032291 |
| rattus_norvegicus | Crabp1 | ENSRNOG00000023633 |
| drosophila_melanogaster | fabp | FBGN0037913 |
| caenorhabditis_elegans | WBGENE00002259 | |
| caenorhabditis_elegans | WBGENE00002260 |
Paralogs (15): RBP2 (ENSG00000114113), RBP1 (ENSG00000114115), FABP3 (ENSG00000121769), RBP5 (ENSG00000139194), CRABP2 (ENSG00000143320), FABP2 (ENSG00000145384), PMP2 (ENSG00000147588), RBP7 (ENSG00000162444), FABP1 (ENSG00000163586), FABP7 (ENSG00000164434), FABP5 (ENSG00000164687), FABP6 (ENSG00000170231), FABP4 (ENSG00000170323), FABP12 (ENSG00000197416), FABP9 (ENSG00000205186)
Protein
Protein identifiers
Cellular retinoic acid-binding protein 1 — P29762 (reviewed: P29762)
Alternative names: Cellular retinoic acid-binding protein I
All UniProt accessions (3): B5MCB5, P29762, F1T0F7
UniProt curated annotations — full annotation on UniProt →
Function. Cytosolic CRABPs may regulate the access of retinoic acid to the nuclear retinoic acid receptors.
Subcellular location. Cytoplasm.
Domain organisation. Forms a beta-barrel structure that accommodates hydrophobic ligands in its interior.
Similarity. Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.
RefSeq proteins (1): NP_004369* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000463 | Fatty_acid-bd | Domain |
| IPR000566 | Lipocln_cytosolic_FA-bd_dom | Domain |
| IPR012674 | Calycin | Homologous_superfamily |
| IPR031259 | ILBP | Family |
Pfam: PF00061
UniProt features (5 total): sequence conflict 2, chain 1, short sequence motif 1, binding site 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7A9Y | X-RAY DIFFRACTION | 1.64 |
| 7A9Z | X-RAY DIFFRACTION | 2.41 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P29762-F1 | 96.10 | 0.96 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 132–134
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5365859 | RA biosynthesis pathway |
MSigDB gene sets: 194 (showing top):
ATF_B, GCANCTGNY_MYOD_Q6, BECKER_TAMOXIFEN_RESISTANCE_UP, SP3_Q3, MODULE_45, GGGTGGRR_PAX4_03, MODULE_404, LA_MEN1_TARGETS, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, GOBP_ORGANIC_ACID_TRANSPORT, CREB_Q4, MODULE_66, MODULE_118, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, MCLACHLAN_DENTAL_CARIES_DN
GO Biological Process (2): signal transduction (GO:0007165), fatty acid transport (GO:0015908)
GO Molecular Function (7): retinoic acid binding (GO:0001972), retinoid binding (GO:0005501), fatty acid binding (GO:0005504), retinal binding (GO:0016918), retinol binding (GO:0019841), protein binding (GO:0005515), lipid binding (GO:0008289)
GO Cellular Component (3): nucleus (GO:0005634), cytosol (GO:0005829), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Signaling by Retinoic Acid | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| retinoid binding | 3 |
| monocarboxylic acid binding | 2 |
| vitamin binding | 2 |
| binding | 2 |
| cellular anatomical structure | 2 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| lipid transport | 1 |
| monocarboxylic acid transport | 1 |
| isoprenoid binding | 1 |
| lipid binding | 1 |
| alcohol binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1312 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CRABP1 | RARA | P10276 | 790 |
| CRABP1 | CACNA1G | O43497 | 765 |
| CRABP1 | RARB | P10826 | 762 |
| CRABP1 | NEUROG1 | Q92886 | 735 |
| CRABP1 | RARS1 | P54136 | 720 |
| CRABP1 | CYP26C1 | Q6V0L0 | 701 |
| CRABP1 | CYP26A1 | O43174 | 678 |
| CRABP1 | RBP3 | P10745 | 674 |
| CRABP1 | HOXA1 | P49639 | 670 |
| CRABP1 | RUNX3 | Q13761 | 664 |
| CRABP1 | ZBTB16 | Q05516 | 629 |
| CRABP1 | STRA6 | Q9BX79 | 620 |
| CRABP1 | RARG | P13631 | 616 |
| CRABP1 | SOCS1 | O15524 | 608 |
| CRABP1 | MLH1 | P40692 | 607 |
IntAct
34 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CETN1 | SFI1 | psi-mi:“MI:0914”(association) | 0.640 |
| TSPO | CRABP1 | psi-mi:“MI:0915”(physical association) | 0.590 |
| TH | CRABP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NHERF1 | CRABP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SYNGAP1 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| CRABP1 | CFTR | psi-mi:“MI:0915”(physical association) | 0.510 |
| CFTR | CRABP1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| CRABP1 | psi-mi:“MI:0915”(physical association) | 0.510 | |
| CRABP1 | psi-mi:“MI:0915”(physical association) | 0.510 | |
| TRA2A | CRABP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PRNP | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| ANK2 | IGKV2-40 | psi-mi:“MI:0914”(association) | 0.350 |
| DYRK1A | TEX13D | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | CACNB4 | psi-mi:“MI:0914”(association) | 0.350 |
| SYNGAP1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| CACNA1C | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.350 |
| HCN1 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| SYNGAP1 | IGLON5 | psi-mi:“MI:0914”(association) | 0.350 |
| SHTN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| VCP | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| VCP | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| CRABP1 | TH | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (15): CRABP1 (Affinity Capture-MS), CRABP1 (Affinity Capture-MS), CRABP1 (Two-hybrid), TH (Two-hybrid), CRABP1 (Affinity Capture-MS), CRABP1 (Affinity Capture-MS), CRABP1 (Affinity Capture-MS), CRABP1 (PCA), CORO1B (Cross-Linking-MS (XL-MS)), CRABP1 (Cross-Linking-MS (XL-MS)), CRABP1 (Affinity Capture-MS), CRABP1 (Affinity Capture-MS), CRABP1 (Affinity Capture-MS), TRA2A (Two-hybrid), CRABP1 (Affinity Capture-MS)
ESM2 similar proteins: A0A0K9RL25, A0A0U1WZ18, B9N1F9, B9SQI7, E0CSI1, I3SPW2, O15305, O42386, O80526, O88600, O97555, O97556, P21856, P22935, P29373, P29762, P31150, P34932, P40220, P50396, P50398, P50568, P51673, P60028, P62964, P62965, P62966, Q2QNG7, Q2QZ86, Q2TFN9, Q3C1F4, Q42785, Q5PXY7, Q5R2J5, Q5R5C9, Q5RDM4, Q5ZID6, Q60HD6, Q61316, Q6AY30
Diamond homologs: A0A0K0MJ13, A0A0K0MJN3, A6NFH5, A6YLM6, A8MUU1, B7SUM8, C4N147, O01812, O01814, O02323, O02324, O02772, O08716, O13008, O15540, O42386, O45035, O76821, O97788, P02689, P02690, P02691, P02694, P02696, P04117, P05413, P06768, P07148, P07483, P09455, P0C6G6, P10790, P11404, P12710, P15090, P22935, P24526, P29373, P29498, P29762
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
16 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 14 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
583 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:78340492:GCAC:G | donor_gain | 1.0000 |
| 15:78340497:GG:G | donor_gain | 1.0000 |
| 15:78340498:GG:G | donor_gain | 1.0000 |
| 15:78340499:G:GA | donor_loss | 1.0000 |
| 15:78340499:G:GG | donor_gain | 1.0000 |
| 15:78340500:T:A | donor_loss | 1.0000 |
| 15:78343498:GA:G | acceptor_gain | 1.0000 |
| 15:78341212:C:T | donor_gain | 0.9900 |
| 15:78341220:GG:G | donor_gain | 0.9900 |
| 15:78341221:GG:G | donor_gain | 0.9900 |
| 15:78347922:TGCA:T | acceptor_loss | 0.9900 |
| 15:78347924:CAGAC:C | acceptor_loss | 0.9900 |
| 15:78347925:A:T | acceptor_loss | 0.9900 |
| 15:78347926:G:GT | acceptor_loss | 0.9900 |
| 15:78347926:GAC:G | acceptor_gain | 0.9900 |
| 15:78340496:TGG:T | donor_gain | 0.9800 |
| 15:78340497:GGG:G | donor_gain | 0.9800 |
| 15:78340561:G:GT | donor_gain | 0.9800 |
| 15:78341192:G:GT | donor_gain | 0.9800 |
| 15:78343495:GCAG:G | acceptor_loss | 0.9800 |
| 15:78343497:A:AG | acceptor_gain | 0.9800 |
| 15:78343497:AGAGT:A | acceptor_loss | 0.9800 |
| 15:78343498:G:GG | acceptor_gain | 0.9800 |
| 15:78343498:G:T | acceptor_loss | 0.9800 |
| 15:78343608:TCCTG:T | donor_loss | 0.9800 |
| 15:78343609:CCTG:C | donor_loss | 0.9800 |
| 15:78343610:CTG:C | donor_loss | 0.9800 |
| 15:78343611:TG:T | donor_loss | 0.9800 |
| 15:78343612:GG:G | donor_loss | 0.9800 |
| 15:78343613:G:A | donor_loss | 0.9800 |
AlphaMissense
904 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:78341070:C:A | A33D | 0.999 |
| 15:78343583:C:A | R112S | 0.999 |
| 15:78347953:C:G | C130W | 0.999 |
| 15:78340450:T:A | W8R | 0.998 |
| 15:78340450:T:C | W8R | 0.998 |
| 15:78340452:G:C | W8C | 0.998 |
| 15:78340452:G:T | W8C | 0.998 |
| 15:78341061:G:T | R30M | 0.998 |
| 15:78341211:G:C | R80P | 0.998 |
| 15:78343584:G:C | R112P | 0.998 |
| 15:78343605:T:C | L119P | 0.998 |
| 15:78343611:T:C | L121P | 0.998 |
| 15:78347952:G:A | C130Y | 0.998 |
| 15:78340487:T:C | L20P | 0.997 |
| 15:78341061:G:C | R30T | 0.997 |
| 15:78341062:G:C | R30S | 0.997 |
| 15:78341062:G:T | R30S | 0.997 |
| 15:78341186:T:C | F72L | 0.997 |
| 15:78341188:T:A | F72L | 0.997 |
| 15:78341188:T:G | F72L | 0.997 |
| 15:78341210:C:A | R80S | 0.997 |
| 15:78343577:T:A | W110R | 0.997 |
| 15:78343577:T:C | W110R | 0.997 |
| 15:78347951:T:C | C130R | 0.997 |
| 15:78340451:G:C | W8S | 0.996 |
| 15:78340474:T:C | F16L | 0.996 |
| 15:78340476:C:A | F16L | 0.996 |
| 15:78340476:C:G | F16L | 0.996 |
| 15:78341169:T:C | F66S | 0.996 |
| 15:78341204:G:C | D78H | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000533445 (15:78340050 A>G), RS1000576819 (15:78347880 G>C), RS1000650487 (15:78348165 T>C), RS1000681553 (15:78348354 G>C), RS1000811062 (15:78342169 A>C,G), RS1001241956 (15:78342433 C>T), RS1001343942 (15:78343398 G>A), RS1001710251 (15:78343109 C>T), RS1002003440 (15:78346997 T>TG), RS1002269996 (15:78341700 G>A), RS1002343722 (15:78342091 G>A,C), RS1002578735 (15:78341390 C>T), RS1003274909 (15:78340218 C>A,T), RS1003347022 (15:78340537 C>A,T), RS1003686154 (15:78348380 G>A,C)
Disease associations
OMIM: gene MIM:180230 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003476_6 | Eyebrow thickness | 1.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2079 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: other protein — Fatty acid-binding proteins
CTD chemical–gene interactions
50 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, increases methylation | 8 |
| Tretinoin | decreases response to substance, affects cotreatment, decreases expression, increases expression | 5 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Tetrachlorodibenzodioxin | decreases expression, affects cotreatment | 3 |
| bisphenol A | decreases expression | 2 |
| sodium arsenite | decreases expression, affects cotreatment | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 2 |
| Decitabine | affects expression, affects methylation | 2 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Cadmium | decreases expression, increases abundance, increases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| terbufos | increases methylation | 1 |
| butyraldehyde | increases expression | 1 |
| perfluorooctanoic acid | affects cotreatment, decreases expression | 1 |
| benzo(e)pyrene | decreases methylation, increases methylation | 1 |
| aflatoxin B2 | decreases methylation, increases methylation | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| pentanal | increases expression | 1 |
| tebuconazole | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| dorsomorphin | affects cotreatment, increases expression, decreases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| Arsenic Trioxide | decreases reaction, affects binding | 1 |
| Alitretinoin | decreases response to substance | 1 |
| Panobinostat | affects cotreatment, increases expression | 1 |
| Aldehydes | increases expression | 1 |
| Atrazine | increases expression | 1 |
| Calcitriol | decreases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL664298 | Binding | Inhibition of [3H]-retinoic acid binding to Cellular retinoic acid-binding protein (CRABP) from chick embryo skin | Inhibition of papilloma formation by analogues of 7,8-dihydroretinoic acid. — J Med Chem |
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.