CARHSP1
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Also known as CRHSP-24CSDC1
Summary
CARHSP1 (calcium regulated heat stable protein 1, HGNC:17150) is a protein-coding gene on chromosome 16p13.2, encoding Calcium-regulated heat-stable protein 1 (Q9Y2V2). Binds mRNA and regulates the stability of target mRNA.
Enables mRNA 3’-UTR binding activity. Predicted to be involved in regulation of mRNA stability. Predicted to be located in P granule; cytoplasmic exosome (RNase complex); and cytosol. Predicted to be active in cytoplasm.
Source: NCBI Gene 23589 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 74 total — 1 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_014316
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17150 |
| Approved symbol | CARHSP1 |
| Name | calcium regulated heat stable protein 1 |
| Location | 16p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CRHSP-24, CSDC1 |
| Ensembl gene | ENSG00000153048 |
| Ensembl biotype | protein_coding |
| OMIM | 616885 |
| Entrez | 23589 |
Gene structure
Transcript identifiers
Ensembl transcripts: 77 — 73 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000311052, ENST00000396593, ENST00000561530, ENST00000562586, ENST00000562843, ENST00000563815, ENST00000565287, ENST00000567554, ENST00000567626, ENST00000567908, ENST00000568117, ENST00000568968, ENST00000569398, ENST00000569572, ENST00000570125, ENST00000610831, ENST00000611932, ENST00000614449, ENST00000618335, ENST00000619881, ENST00000857704, ENST00000857705, ENST00000857706, ENST00000857707, ENST00000857708, ENST00000857709, ENST00000857710, ENST00000857711, ENST00000857712, ENST00000857713, ENST00000857714, ENST00000857715, ENST00000857716, ENST00000857717, ENST00000857718, ENST00000857719, ENST00000857720, ENST00000857721, ENST00000857722, ENST00000857723, ENST00000857724, ENST00000857725, ENST00000857726, ENST00000857727, ENST00000857728, ENST00000857729, ENST00000857730, ENST00000857731, ENST00000857732, ENST00000857733, ENST00000857734, ENST00000857735, ENST00000857736, ENST00000857737, ENST00000857738, ENST00000857739, ENST00000922317, ENST00000922318, ENST00000922319, ENST00000922320, ENST00000922321, ENST00000922322, ENST00000922323, ENST00000922324, ENST00000922325, ENST00000922326, ENST00000922327, ENST00000922328, ENST00000922329, ENST00000922330, ENST00000922331, ENST00000922332, ENST00000922333, ENST00000954682, ENST00000954683, ENST00000954684, ENST00000954685
RefSeq mRNA: 9 — MANE Select: NM_014316
NM_001042476, NM_001278260, NM_001278261, NM_001278262, NM_001278263, NM_001278264, NM_001278265, NM_001278266, NM_014316
CCDS: CCDS10537
Canonical transcript exons
ENST00000311052 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001425906 | 8868966 | 8869006 |
| ENSE00002580049 | 8852947 | 8855326 |
| ENSE00003497814 | 8858350 | 8858472 |
| ENSE00003650612 | 8859171 | 8859335 |
Expression profiles
Bgee: expression breadth ubiquitous, 282 present calls, max score 99.43.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 76.0713 / max 497.7950, expressed in 1821 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 156171 | 72.2005 | 1819 |
| 156170 | 1.7662 | 964 |
| 156169 | 1.1673 | 732 |
| 156165 | 0.3302 | 138 |
| 156164 | 0.2232 | 90 |
| 156172 | 0.1950 | 77 |
| 156167 | 0.1076 | 8 |
| 156168 | 0.0467 | 10 |
| 156166 | 0.0346 | 4 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right testis | UBERON:0004534 | 99.43 | gold quality |
| left testis | UBERON:0004533 | 99.42 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.16 | gold quality |
| ventricular zone | UBERON:0003053 | 99.12 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.37 | gold quality |
| right adrenal gland | UBERON:0001233 | 97.93 | gold quality |
| cortical plate | UBERON:0005343 | 97.78 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 97.69 | gold quality |
| left adrenal gland | UBERON:0001234 | 97.62 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 97.55 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.54 | gold quality |
| embryo | UBERON:0000922 | 97.33 | gold quality |
| right lobe of liver | UBERON:0001114 | 97.30 | gold quality |
| adrenal cortex | UBERON:0001235 | 97.09 | gold quality |
| testis | UBERON:0000473 | 97.04 | gold quality |
| right lung | UBERON:0002167 | 96.78 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.77 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 96.64 | gold quality |
| omental fat pad | UBERON:0010414 | 96.55 | gold quality |
| peritoneum | UBERON:0002358 | 96.52 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 96.46 | gold quality |
| adrenal gland | UBERON:0002369 | 96.38 | gold quality |
| type B pancreatic cell | CL:0000169 | 96.37 | silver quality |
| tibial nerve | UBERON:0001323 | 96.22 | gold quality |
| upper lobe of lung | UBERON:0008948 | 95.99 | gold quality |
| minor salivary gland | UBERON:0001830 | 95.95 | gold quality |
| nucleus accumbens | UBERON:0001882 | 95.95 | gold quality |
| oral cavity | UBERON:0000167 | 95.73 | gold quality |
| ectocervix | UBERON:0012249 | 95.63 | gold quality |
| pericardium | UBERON:0002407 | 95.62 | gold quality |
Single-cell (SCXA)
Detected in 15 experiment(s), a significant marker in 10.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10855 | yes | 709.01 |
| E-CURD-112 | yes | 41.60 |
| E-GEOD-134144 | yes | 32.31 |
| E-CURD-122 | yes | 24.82 |
| E-ANND-3 | yes | 15.82 |
| E-CURD-114 | yes | 11.59 |
| E-MTAB-10042 | yes | 10.43 |
| E-GEOD-135922 | yes | 10.08 |
| E-MTAB-10553 | yes | 7.70 |
| E-CURD-88 | yes | 5.99 |
| E-MTAB-11121 | no | 313.42 |
| E-ENAD-20 | no | 54.26 |
| E-CURD-120 | no | 7.28 |
| E-MTAB-10137 | no | 4.89 |
| E-HCAD-13 | no | 3.28 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
69 targeting CARHSP1, 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-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
| HSA-MIR-4320 | 99.75 | 65.80 | 793 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-519A-3P | 99.67 | 71.67 | 1868 |
| HSA-MIR-519B-3P | 99.67 | 71.67 | 1868 |
| HSA-MIR-519C-3P | 99.67 | 71.67 | 1870 |
| HSA-MIR-9851-3P | 99.63 | 69.68 | 1110 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-106A-3P | 99.53 | 67.58 | 995 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-6727-3P | 99.49 | 65.92 | 1333 |
| HSA-MIR-4687-3P | 99.48 | 66.41 | 968 |
| HSA-MIR-766-3P | 99.47 | 65.24 | 1811 |
| HSA-MIR-889-5P | 99.41 | 68.75 | 1025 |
| HSA-MIR-4786-3P | 99.36 | 68.35 | 1390 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-155-5P | 99.35 | 70.16 | 1509 |
Literature-anchored findings (GeneRIF, showing 5)
- Data suggest that CARHSP1 is a TNF-alpha mRNA stability enhancer required for effective TNF-alpha production, demonstrating the importance of both stabilization and destabilization pathways in regulating the TNF-alpha mRNA half-life. (PMID:21078874)
- CRHSP-24 participates in oxidative stress response via a dynamic and temporal association between stress granules and processing bodies. (PMID:21177848)
- CARHSP1 inhibits hepatic gluconeogenic gene expression via repression of PPARalpha (PMID:21990353)
- Increased miR-155 relieves chronic inflammation by a negative feedback loop and plays a protective role during atherosclerosis-associated foam cell formation by signaling through the miR-155-CARHSP1-TNF-alpha pathway. (PMID:26899994)
- Genome-wide CRISPR/Cas9 screening identifies CARHSP1 responsible for radiation resistance in glioblastoma. (PMID:34290231)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | carhsp1 | ENSDARG00000053129 |
| mus_musculus | Carhsp1 | ENSMUSG00000008393 |
| rattus_norvegicus | Carhsp1 | ENSRNOG00000002610 |
| drosophila_melanogaster | CG9705 | FBGN0036661 |
Paralogs (1): CSDC2 (ENSG00000172346)
Protein
Protein identifiers
Calcium-regulated heat-stable protein 1 — Q9Y2V2 (reviewed: Q9Y2V2)
Alternative names: Calcium-regulated heat-stable protein of 24 kDa
All UniProt accessions (8): Q9Y2V2, H3BNU9, H3BPY5, H3BQY0, H3BSW7, H3BTK3, H3BUY4, I3L3X8
UniProt curated annotations — full annotation on UniProt →
Function. Binds mRNA and regulates the stability of target mRNA. Binds single-stranded DNA (in vitro).
Subunit / interactions. Homodimer. Interacts with STYX.
Subcellular location. Cytoplasm. P-body. Cytoplasmic granule.
Post-translational modifications. Dephosphorylated by calcineurin in a Ca(2+) dependent manner. Can be phosphorylated by DYRK2 (in vitro).
RefSeq proteins (9): NP_001035941, NP_001265189, NP_001265190, NP_001265191, NP_001265192, NP_001265193, NP_001265194, NP_001265195, NP_055131* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002059 | CSP_DNA-bd | Domain |
| IPR011129 | CSD | Domain |
| IPR012340 | NA-bd_OB-fold | Homologous_superfamily |
| IPR019844 | CSD_CS | Conserved_site |
| IPR052069 | Ca-reg_mRNA-binding_domain | Family |
Pfam: PF00313
UniProt features (27 total): modified residue 9, strand 7, mutagenesis site 2, helix 2, initiator methionine 1, chain 1, sequence conflict 1, turn 1, domain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3AQQ | X-RAY DIFFRACTION | 2.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2V2-F1 | 84.61 | 0.64 |
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): 52, 58, 146, 147, 2, 30, 32, 41, 45
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 41 | reduced affinity for single-stranded dna. abolishes location at cytoplasmic stress granules. |
| 76 | reduced affinity for single-stranded dna. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 196 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_UP, GSE45365_NK_CELL_VS_CD8A_DC_UP, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOLDRATH_ANTIGEN_RESPONSE, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, DAVICIONI_RHABDOMYOSARCOMA_PAX_FOXO1_FUSION_UP, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_REGULATION_OF_CATABOLIC_PROCESS, MCBRYAN_PUBERTAL_BREAST_3_4WK_UP, TSENG_IRS1_TARGETS_DN, FISCHER_DREAM_TARGETS
GO Biological Process (2): intracellular signal transduction (GO:0035556), regulation of mRNA stability (GO:0043488)
GO Molecular Function (5): mRNA 3’-UTR binding (GO:0003730), phosphatase binding (GO:0019902), nucleic acid binding (GO:0003676), RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (5): cytoplasmic exosome (RNase complex) (GO:0000177), P-body (GO:0000932), cytoplasm (GO:0005737), cytosol (GO:0005829), P granule (GO:0043186)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular anatomical structure | 2 |
| binding | 2 |
| cytoplasm | 2 |
| cytoplasmic ribonucleoprotein granule | 2 |
| cellular anatomical structure | 2 |
| signal transduction | 1 |
| regulation of RNA stability | 1 |
| regulation of mRNA catabolic process | 1 |
| mRNA binding | 1 |
| enzyme binding | 1 |
| nucleic acid binding | 1 |
| exosome (RNase complex) | 1 |
| germ plasm | 1 |
Protein interactions and networks
STRING
1736 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CARHSP1 | LITAFD | A0A1B0GVX0 | 494 |
| CARHSP1 | SPNS3 | Q6ZMD2 | 481 |
| CARHSP1 | RAB3IL1 | Q8TBN0 | 452 |
| CARHSP1 | HAPSTR1 | Q14CZ0 | 446 |
| CARHSP1 | SLC38A7 | Q9NVC3 | 438 |
| CARHSP1 | PARD6A | Q9NPB6 | 423 |
| CARHSP1 | PDXDC1 | Q6P996 | 420 |
| CARHSP1 | OR6N1 | Q8NGY5 | 410 |
| CARHSP1 | ATP11C | Q8NB49 | 406 |
| CARHSP1 | COPS7A | Q9UBW8 | 404 |
| CARHSP1 | DOCK7 | Q96N67 | 402 |
| CARHSP1 | CDIP1 | Q9H305 | 402 |
| CARHSP1 | PNPO | Q9NVS9 | 398 |
| CARHSP1 | GFI1B | Q5VTD9 | 394 |
| CARHSP1 | OR6N2 | Q8NGY6 | 389 |
IntAct
69 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KRTAP10-8 | CARHSP1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CARHSP1 | KRTAP10-8 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CARHSP1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| KRTAP10-7 | CARHSP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAF1 | CARHSP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOTCH2NLA | CARHSP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CARHSP1 | PNMA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DOCK8 | CARHSP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CARHSP1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| CARHSP1 | KRTAP10-7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PNMA1 | CARHSP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CARHSP1 | DOCK8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOTCH2NLC | CARHSP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | CARHSP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP6-3 | CARHSP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MID2 | CARHSP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPP2R1A | CARHSP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (70): CARHSP1 (Two-hybrid), CARHSP1 (Two-hybrid), DOCK8 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), CARHSP1 (Co-fractionation), CARHSP1 (Co-fractionation), CARHSP1 (Co-fractionation), CARHSP1 (Co-fractionation), FKBP2 (Co-fractionation), IMPA2 (Co-fractionation), PCBP1 (Co-fractionation), CARHSP1 (Biochemical Activity)
ESM2 similar proteins: A3KMV1, A8JAM0, B7PXE3, B9EHT4, B9FS74, F4HX15, F4IAE9, F5HB62, O46072, O70161, P0C5J9, P34442, P35228, P53904, Q257B3, Q3MHJ7, Q3V0G7, Q4FE47, Q5I6B8, Q5R686, Q5U243, Q5VVW2, Q63430, Q65XV2, Q66HD5, Q6NRL1, Q6P5D3, Q6P7W2, Q6TNT2, Q6YUL8, Q76K24, Q7JVP4, Q7XI08, Q8BFX3, Q8BTZ5, Q8BXK8, Q8CI96, Q8IY37, Q8N3C7, Q8TBC3
Diamond homologs: A0R5E1, E0J1Q3, E0J500, E1WGN1, O30875, O67327, P0A352, P0A353, P0A354, P0A362, P0A363, P0A968, P0A969, P0A970, P0A971, P0A972, P0A973, P0A974, P0A975, P0A978, P0A979, P0A980, P0A981, P0A986, P0A987, P0A9X9, P0A9Y0, P0A9Y1, P0A9Y2, P0A9Y3, P0A9Y4, P0A9Y5, P0A9Y6, P0A9Y7, P0A9Y8, P0A9Y9, P0A9Z0, P0CL01, P27484, P36995
SIGNOR signaling
7 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| AKT | unknown | CARHSP1 | phosphorylation |
| DYRK2 | unknown | CARHSP1 | phosphorylation |
| RPS6KA1 | unknown | CARHSP1 | phosphorylation |
| AKT1 | unknown | CARHSP1 | phosphorylation |
| RPS6K | unknown | CARHSP1 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
74 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 63 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2500242 | NC_000016.9:g.(?8160554)(9074348_?)del | Pathogenic |
SpliceAI
594 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:8855322:CCACA:C | acceptor_gain | 1.0000 |
| 16:8855323:CACAC:C | acceptor_gain | 1.0000 |
| 16:8855325:CA:C | acceptor_gain | 1.0000 |
| 16:8855327:C:CC | acceptor_gain | 1.0000 |
| 16:8858345:CTCA:C | donor_gain | 1.0000 |
| 16:8858348:A:AC | donor_gain | 1.0000 |
| 16:8858349:C:CT | donor_gain | 1.0000 |
| 16:8858349:CT:C | donor_gain | 1.0000 |
| 16:8858468:CCGTC:C | acceptor_gain | 1.0000 |
| 16:8858469:CGTCC:C | acceptor_gain | 1.0000 |
| 16:8858471:TC:T | acceptor_gain | 1.0000 |
| 16:8858472:CC:C | acceptor_gain | 1.0000 |
| 16:8858477:C:CT | acceptor_gain | 1.0000 |
| 16:8859169:A:AC | donor_gain | 1.0000 |
| 16:8859170:C:CC | donor_gain | 1.0000 |
| 16:8859170:CG:C | donor_gain | 1.0000 |
| 16:8855323:CACA:C | acceptor_gain | 0.9900 |
| 16:8855325:CACTA:C | acceptor_loss | 0.9900 |
| 16:8855326:ACTAC:A | acceptor_loss | 0.9900 |
| 16:8855327:CTAC:C | acceptor_loss | 0.9900 |
| 16:8858344:A:AC | donor_gain | 0.9900 |
| 16:8858344:ACT:A | donor_loss | 0.9900 |
| 16:8858345:C:CC | donor_gain | 0.9900 |
| 16:8858346:T:TC | donor_loss | 0.9900 |
| 16:8858347:CACTC:C | donor_loss | 0.9900 |
| 16:8858348:A:C | donor_loss | 0.9900 |
| 16:8858348:ACT:A | donor_gain | 0.9900 |
| 16:8858349:CTC:C | donor_gain | 0.9900 |
| 16:8858349:CTCA:C | donor_gain | 0.9900 |
| 16:8858349:CTCAG:C | donor_gain | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000037467 (16:8869291 G>A,C,T), RS1000247347 (16:8853685 A>G), RS1000345225 (16:8859616 G>A,C), RS1000425285 (16:8864158 CAT>C), RS1000518554 (16:8868370 G>C,T), RS1000540789 (16:8868766 C>A), RS1000859057 (16:8856387 C>G,T), RS1000867434 (16:8861585 T>C), RS1000902709 (16:8861455 C>T), RS1001007757 (16:8854600 A>C), RS1001149375 (16:8858266 T>C), RS1001376781 (16:8860801 A>C), RS1001379369 (16:8855906 A>C,G), RS1001410616 (16:8864873 G>A), RS1001463607 (16:8855811 A>C)
Disease associations
OMIM: gene MIM:616885 | disease phenotypes: MIM:613163
GenCC curated gene-disease
Mondo (2): GABA aminotransaminase deficiency (MONDO:0013166), Hao-Fountain syndrome (MONDO:0014805)
Orphanet (2): Gamma-aminobutyric acid transaminase deficiency (Orphanet:2066), Hao-Fountain syndrome (Orphanet:643549)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005576_4 | Intracranial aneurysm | 9.000000e-07 |
| GCST011352_5 | Alanine aminotransferase levels | 8.000000e-09 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C535407 | Gamma aminobutyric acid transaminase deficiency (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067431 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.52 | Kd | 3011 | nM | CHEMBL5653589 |
| 5.52 | ED50 | 3011 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 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 |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2147998: Binding affinity to human CARHSP1 incubated for 45 mins by Kinobead based pull down assay | kd | 3.0110 | uM |
CTD chemical–gene interactions
70 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, increases methylation, decreases expression | 3 |
| Cadmium Chloride | increases abundance, increases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Valproic Acid | decreases expression, increases methylation | 2 |
| Cyclosporine | decreases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| alpha phellandrene | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| sodium arsenate | decreases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, decreases expression, affects localization, increases expression | 1 |
| trichostatin A | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sulforaphane | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| methacrylaldehyde | affects cotreatment, increases expression, increases abundance | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| nutlin 3 | increases secretion, affects cotreatment | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651040 | Binding | Binding affinity to human CARHSP1 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): brain aneurysm, GABA aminotransaminase deficiency, Hao-Fountain syndrome