AHSA1
gene geneOn this page
Also known as p38Aha1hAha1
Summary
AHSA1 (activator of HSP90 ATPase activity 1, HGNC:1189) is a protein-coding gene on chromosome 14q24.3, encoding Activator of 90 kDa heat shock protein ATPase homolog 1 (O95433). Acts as a co-chaperone of HSP90AA1.
Enables several functions, including ATPase activator activity; Hsp90 protein binding activity; and unfolded protein binding activity. Involved in maintenance of unfolded protein and positive regulation of ATP-dependent activity. Located in cytosol.
Source: NCBI Gene 10598 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 55 total — 1 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_012111
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1189 |
| Approved symbol | AHSA1 |
| Name | activator of HSP90 ATPase activity 1 |
| Location | 14q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | p38, Aha1, hAha1 |
| Ensembl gene | ENSG00000100591 |
| Ensembl biotype | protein_coding |
| OMIM | 608466 |
| Entrez | 10598 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 14 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000216479, ENST00000535854, ENST00000553374, ENST00000554156, ENST00000555133, ENST00000555457, ENST00000555473, ENST00000555517, ENST00000555729, ENST00000556369, ENST00000556866, ENST00000556963, ENST00000557476, ENST00000855620, ENST00000855621, ENST00000855622, ENST00000855623, ENST00000855624, ENST00000855625, ENST00000920448, ENST00000962103
RefSeq mRNA: 2 — MANE Select: NM_012111
NM_001321441, NM_012111
CCDS: CCDS9863
Canonical transcript exons
ENST00000216479 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000659332 | 77464598 | 77464686 |
| ENSE00002231515 | 77458093 | 77458269 |
| ENSE00002518265 | 77469077 | 77469472 |
| ENSE00003459165 | 77462160 | 77462242 |
| ENSE00003494699 | 77465539 | 77465667 |
| ENSE00003502147 | 77468457 | 77468508 |
| ENSE00003557959 | 77468083 | 77468184 |
| ENSE00003603642 | 77462642 | 77462759 |
| ENSE00003606379 | 77459616 | 77459806 |
Expression profiles
Bgee: expression breadth ubiquitous, 302 present calls, max score 99.12.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 107.8111 / max 1359.0198, expressed in 1827 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 140781 | 98.9067 | 1827 |
| 140782 | 7.9085 | 1595 |
| 140780 | 0.9959 | 603 |
Top tissues by expression
303 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 99.12 | gold quality |
| right testis | UBERON:0004534 | 98.98 | gold quality |
| secondary oocyte | CL:0000655 | 98.97 | gold quality |
| left testis | UBERON:0004533 | 98.94 | gold quality |
| right uterine tube | UBERON:0001302 | 98.92 | gold quality |
| cortical plate | UBERON:0005343 | 98.73 | gold quality |
| ventricular zone | UBERON:0003053 | 98.63 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.62 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.39 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 98.37 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 98.33 | gold quality |
| adrenal tissue | UBERON:0018303 | 98.32 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.31 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.30 | gold quality |
| body of uterus | UBERON:0009853 | 98.26 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 98.25 | gold quality |
| lower esophagus | UBERON:0013473 | 98.24 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.23 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 98.17 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.15 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.15 | gold quality |
| rectum | UBERON:0001052 | 98.13 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 98.12 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.11 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 98.06 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.01 | gold quality |
| adenohypophysis | UBERON:0002196 | 97.99 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.98 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.96 | gold quality |
| testis | UBERON:0000473 | 97.96 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
18 targeting AHSA1, 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-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-12129 | 99.72 | 67.45 | 1311 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-4524A-5P | 99.57 | 71.73 | 1193 |
| HSA-MIR-4524B-5P | 99.57 | 71.68 | 1195 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-6814-5P | 99.03 | 66.68 | 1273 |
| HSA-MIR-922 | 99.02 | 67.23 | 1838 |
| HSA-MIR-374B-3P | 98.63 | 68.24 | 1360 |
| HSA-MIR-378H | 98.43 | 66.16 | 545 |
| HSA-MIR-3190-3P | 97.61 | 66.95 | 1406 |
| HSA-MIR-874-5P | 96.93 | 63.92 | 1014 |
| HSA-MIR-4491 | 96.53 | 66.20 | 935 |
| HSA-MIR-4657 | 96.53 | 66.57 | 895 |
| HSA-MIR-4740-5P | 96.25 | 67.96 | 726 |
| HSA-MIR-4323 | 93.93 | 63.89 | 656 |
Literature-anchored findings (GeneRIF, showing 17)
- stimulates the inherent ATPase activity of Hsp90 (PMID:12504007)
- Hsp90 cochaperones modulate Hsp90-dependent stability of CFTR protein folding in the endoplasmic reticulum (PMID:17110338)
- Data propose a model for Aha1 in the Hsp90 ATPase cycle where Aha1 regulates dwell time of Hsp90, and suggest Aha1 activity integrates chaperone function with client folding energetics by modulating ATPase sensitive dimer structural transitions. (PMID:20089831)
- The interaction of Aha1 with Hsp90 and its co-chaperones in rabbit reticulocyte lysate (RRL) and in HeLa cell extracts, was characterized. (PMID:22504172)
- Hsp90 phosphorylation on tyrosine313 promotes recruitment of AHA1, which stimulates Hsp90 ATPase activity, furthering the chaperoning process. (PMID:22727666)
- Modulation of Hsp90 activity by AHA1 regulates VEGF signaling to eNOS and angiogenesis. (PMID:22859491)
- Aha1 may promote disposal of folding defective proteins by the cellular protein quality control. (PMID:25378400)
- These results suggest that differences in the middle domain of Hsp90alpha and Hsp90beta may be responsible for the isoform-specific interactions with selected proteins. (PMID:25486457)
- Aha1 colocalized with tau pathology in brain tissue, and this association positively correlated with Alzheimer disease progression. (PMID:28827321)
- Data support the multi-step nature of the Hsp90/Aha1-interaction, where the N-terminal domain of Aha1 interacts with both Hsp90 M domains upon induction of a partially closed conformation of the Hsp90 dimer. In addition, the data indicate that the C-terminal domain of Aha1 can adopt several conformations leading to a dynamic, polymorphic complex. (PMID:31299134)
- Aha-type co-chaperones: the alpha or the omega of the Hsp90 ATPase cycle? (PMID:31782942)
- AHA1 upregulates IDH1 and metabolic activity to promote growth and metastasis and predicts prognosis in osteosarcoma. (PMID:33468990)
- Identification of AHSA1 as a Potential Therapeutic Target for Breast Cancer: Bioinformatics Analysis and in vitro Studies. (PMID:35034596)
- The Prognostic and Immunotherapeutic Significance of AHSA1 in Pan-Cancer, and Its Relationship With the Proliferation and Metastasis of Hepatocellular Carcinoma. (PMID:35757728)
- p23 and Aha1: Distinct Functions Promote Client Maturation. (PMID:36520307)
- Human Aha1’s N-terminal extension confers it holdase activity in vitro. (PMID:37486705)
- Recruitment of Ahsa1 to Hsp90 is regulated by a conserved peptide that inhibits ATPase stimulation. (PMID:38937628)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ahsa1a | ENSDARG00000028664 |
| danio_rerio | ahsa1b | ENSDARG00000100317 |
| mus_musculus | Ahsa1 | ENSMUSG00000021037 |
| rattus_norvegicus | Ahsa1 | ENSRNOG00000048981 |
| drosophila_melanogaster | CG1416 | FBGN0032961 |
| caenorhabditis_elegans | WBGENE00007235 |
Protein
Protein identifiers
Activator of 90 kDa heat shock protein ATPase homolog 1 — O95433 (reviewed: O95433)
Alternative names: p38
All UniProt accessions (6): O95433, G3V3W9, G3V438, H0YJ63, H0YJG7, H0YJU2
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a co-chaperone of HSP90AA1. Activates the ATPase activity of HSP90AA1 leading to increase in its chaperone activity. Competes with the inhibitory co-chaperone FNIP1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins. Competes with the inhibitory co-chaperone TSC1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins.
Subunit / interactions. Interacts with HSPCA/HSP90. Interacts (phosphorylated on Tyr-223) with HSP90AA1; the interaction activates HSP90AA1 ATPase activity. Interacts with HSP90AB1. Interacts with GCH1. Interacts with SRPK1. Interacts with FLCN. (Microbial infection) Interacts with vesicular stomatitis virus glycoprotein (VSV G) (via cytoplasmic tail).
Subcellular location. Cytoplasm. Cytosol. Endoplasmic reticulum.
Tissue specificity. Expressed in numerous tissues, including brain, heart, skeletal muscle and kidney and, at lower levels, liver and placenta.
Post-translational modifications. Phosphorylation at Tyr-223 enhances binding to chaperone HSP90AA1.
Induction. By heat shock and treatment with the HSP90 inhibitor 17-demethoxygeldanamycin (17AAG).
Similarity. Belongs to the AHA1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95433-1 | 1 | yes |
| O95433-2 | 2 |
RefSeq proteins (2): NP_001308370, NP_036243* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013538 | ASHA1/2-like_C | Domain |
| IPR015310 | AHSA1-like_N | Domain |
| IPR023393 | START-like_dom_sf | Homologous_superfamily |
| IPR036338 | Aha1 | Homologous_superfamily |
Pfam: PF08327, PF09229
UniProt features (37 total): strand 14, helix 7, modified residue 5, turn 5, cross-link 2, chain 1, sequence conflict 1, splice variant 1, mutagenesis site 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8Z3H | X-RAY DIFFRACTION | 1.5 |
| 8Z3J | X-RAY DIFFRACTION | 1.52 |
| 1X53 | SOLUTION NMR | |
| 7DMD | SOLUTION NMR | |
| 7DME | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95433-F1 | 81.10 | 0.51 |
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 (7): 3, 193, 212, 223, 258, 182, 203
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 223 | phosphomimetic mutant. increases the binding to hsp90aa1 resulting in tsc1 dissociation from hsp90aa1. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 182 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, BASSO_B_LYMPHOCYTE_NETWORK, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MORF_HDAC2, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, PUJANA_CHEK2_PCC_NETWORK, YORDY_RECIPROCAL_REGULATION_BY_ETS1_AND_SP100_DN, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_PROTEIN_MATURATION, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, chr14q24, MORF_BUB3, GOBP_PROTEIN_FOLDING, GOBP_REGULATION_OF_PROTEIN_STABILITY, TIEN_INTESTINE_PROBIOTICS_24HR_UP
GO Biological Process (3): protein folding (GO:0006457), positive regulation of ATP-dependent activity (GO:0032781), obsolete maintenance of unfolded protein (GO:0036506)
GO Molecular Function (7): ATPase activator activity (GO:0001671), protein folding chaperone (GO:0044183), cadherin binding (GO:0045296), obsolete unfolded protein binding (GO:0051082), protein-folding chaperone binding (GO:0051087), Hsp90 protein binding (GO:0051879), protein binding (GO:0005515)
GO Cellular Component (4): endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), extracellular exosome (GO:0070062), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ATP-dependent activity | 2 |
| cytoplasm | 2 |
| cellular anatomical structure | 2 |
| cellular process | 1 |
| protein maturation | 1 |
| regulation of ATP-dependent activity | 1 |
| positive regulation of molecular function | 1 |
| molecular function activator activity | 1 |
| molecular_function | 1 |
| protein folding | 1 |
| cell adhesion molecule binding | 1 |
| protein binding | 1 |
| heat shock protein binding | 1 |
| binding | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| extracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1975 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| AHSA1 | HSP90AA1 | P07900 | 998 |
| AHSA1 | HSP90AB1 | P08238 | 995 |
| AHSA1 | PTGES3 | Q15185 | 974 |
| AHSA1 | STIP1 | P31948 | 968 |
| AHSA1 | HSPA4 | P34932 | 953 |
| AHSA1 | CDC37 | Q16543 | 935 |
| AHSA1 | FKBP4 | Q02790 | 895 |
| AHSA1 | UNC45A | Q9H3U1 | 827 |
| AHSA1 | CFTR | P13569 | 808 |
| AHSA1 | DNAJB1 | P25685 | 795 |
| AHSA1 | DNAJA1 | P31689 | 722 |
| AHSA1 | HSPA8 | P11142 | 717 |
| AHSA1 | SRPK1 | Q96SB4 | 717 |
| AHSA1 | STUB1 | Q9UNE7 | 710 |
| AHSA1 | UNC45B | Q8IWX7 | 703 |
IntAct
112 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| AHSA1 | HSP90AB1 | psi-mi:“MI:0882”(atpase reaction) | 0.770 |
| HSP90AB1 | AHSA1 | psi-mi:“MI:0915”(physical association) | 0.770 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| HSP90AA1 | CHUK | psi-mi:“MI:0914”(association) | 0.670 |
| AHSA1 | HSP90AA1 | psi-mi:“MI:0915”(physical association) | 0.660 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| AICDA | DNAJA2 | psi-mi:“MI:0914”(association) | 0.570 |
| AHSA1 | EGFR | psi-mi:“MI:0915”(physical association) | 0.550 |
| EGFR | AHSA1 | psi-mi:“MI:0915”(physical association) | 0.550 |
| HSP90AA1 | USP19 | psi-mi:“MI:0914”(association) | 0.530 |
| GCH1 | AHSA1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| AHSA1 | GCH1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| AHSA1 | H2BC21 | psi-mi:“MI:0915”(physical association) | 0.400 |
| IRF3 | AHSA1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| rep | AHSA1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| OTUB1 | EPM2A | psi-mi:“MI:0914”(association) | 0.350 |
| NFKB1 | NFKB1 | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (394): AHSA1 (Affinity Capture-MS), AHSA1 (Affinity Capture-Western), ACADM (Co-fractionation), AHSA1 (Co-fractionation), AHSA1 (Co-fractionation), AHSA1 (Co-fractionation), AHSA1 (Co-fractionation), AHSA1 (Co-fractionation), AHSA1 (Co-fractionation), AHSA1 (Co-fractionation), AHSA1 (Co-fractionation), ASNS (Co-fractionation), ATP5C1 (Co-fractionation), C12orf10 (Co-fractionation), CCT6A (Co-fractionation)
ESM2 similar proteins: A6QQC0, A8MVJ9, B8ARK7, B9RBT0, G5ECQ8, G5EES6, I1R9A6, O82631, O94436, O95433, P06625, P08240, P13021, P32192, P34685, P40123, P40124, P52481, P53834, Q01518, Q03606, Q08163, Q11208, Q12449, Q16KN5, Q3MHE8, Q3SYV4, Q55DB6, Q5NBJ3, Q5R5X8, Q5YLB4, Q719I0, Q7EYV7, Q7KRR5, Q7PWB1, Q7XVN7, Q7XWV4, Q8BK64, Q8N9S3, Q9CYT6
Diamond homologs: A6QQC0, O95433, Q55DB6, Q719I0, Q8BK64, Q8N9S3, P53834
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| AHSA1 | “up-regulates activity” | HSP90AA1 | binding |
| AHSA1 | “up-regulates activity” | HSP90AB1 | binding |
| AHSA1 | “up-regulates activity” | GCH1 | binding |
| ABL1 | “up-regulates activity” | AHSA1 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 128 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Signaling by ERBB2 ECD mutants | 5 | 35.7× | 1e-04 |
| Apoptotic execution phase | 5 | 25.3× | 1e-04 |
| Signaling by ERBB2 TMD/JMD mutants | 5 | 25.3× | 1e-04 |
| Signaling by ERBB2 KD Mutants | 5 | 22.5× | 1e-04 |
| Downregulation of ERBB2 signaling | 5 | 20.2× | 2e-04 |
| HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand | 6 | 12.3× | 3e-04 |
| ESR-mediated signaling | 8 | 10.9× | 1e-04 |
| Infectious disease | 12 | 3.2× | 1e-02 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| intrinsic apoptotic signaling pathway | 5 | 15.6× | 6e-03 |
| JNK cascade | 5 | 11.8× | 9e-03 |
| protein folding | 11 | 9.9× | 2e-05 |
| positive regulation of ERK1 and ERK2 cascade | 8 | 5.9× | 9e-03 |
| protein phosphorylation | 9 | 5.3× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
55 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 32 |
| Likely benign | 3 |
| Benign | 7 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2426709 | NC_000014.8:g.(?77893959)(78082922_?)del | Pathogenic |
SpliceAI
675 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:77458266:ACTGG:A | donor_loss | 1.0000 |
| 14:77458267:CTGGT:C | donor_loss | 1.0000 |
| 14:77458268:TGGTG:T | donor_loss | 1.0000 |
| 14:77458269:GGTGA:G | donor_loss | 1.0000 |
| 14:77458270:G:GG | donor_gain | 1.0000 |
| 14:77458270:G:T | donor_loss | 1.0000 |
| 14:77458271:T:G | donor_loss | 1.0000 |
| 14:77459611:TGCAG:T | acceptor_loss | 1.0000 |
| 14:77459612:GCA:G | acceptor_loss | 1.0000 |
| 14:77459614:A:AC | acceptor_loss | 1.0000 |
| 14:77459614:A:AG | acceptor_gain | 1.0000 |
| 14:77459614:AG:A | acceptor_gain | 1.0000 |
| 14:77459614:AGGAC:A | acceptor_gain | 1.0000 |
| 14:77459615:G:GT | acceptor_gain | 1.0000 |
| 14:77459615:GG:G | acceptor_gain | 1.0000 |
| 14:77459615:GGAC:G | acceptor_gain | 1.0000 |
| 14:77459615:GGACG:G | acceptor_gain | 1.0000 |
| 14:77459802:GACAG:G | donor_gain | 1.0000 |
| 14:77459804:CAGGT:C | donor_loss | 1.0000 |
| 14:77459805:AGGTA:A | donor_loss | 1.0000 |
| 14:77459807:G:GG | donor_gain | 1.0000 |
| 14:77459807:GT:G | donor_loss | 1.0000 |
| 14:77459808:T:A | donor_loss | 1.0000 |
| 14:77462636:A:AG | acceptor_gain | 1.0000 |
| 14:77462641:GATTA:G | acceptor_gain | 1.0000 |
| 14:77462757:CAGGT:C | donor_loss | 1.0000 |
| 14:77462758:AGG:A | donor_loss | 1.0000 |
| 14:77462759:GGTA:G | donor_loss | 1.0000 |
| 14:77462760:G:GC | donor_loss | 1.0000 |
| 14:77462761:T:G | donor_loss | 1.0000 |
AlphaMissense
2216 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:77458220:T:A | W11R | 1.000 |
| 14:77458220:T:C | W11R | 1.000 |
| 14:77458222:G:C | W11C | 1.000 |
| 14:77458222:G:T | W11C | 1.000 |
| 14:77458252:C:A | N21K | 1.000 |
| 14:77458252:C:G | N21K | 1.000 |
| 14:77458262:T:A | W25R | 1.000 |
| 14:77458262:T:C | W25R | 1.000 |
| 14:77458264:G:C | W25C | 1.000 |
| 14:77458264:G:T | W25C | 1.000 |
| 14:77458265:C:A | H26N | 1.000 |
| 14:77458265:C:G | H26D | 1.000 |
| 14:77459616:G:C | W27C | 1.000 |
| 14:77459616:G:T | W27C | 1.000 |
| 14:77459752:C:A | R73S | 1.000 |
| 14:77459752:C:G | R73G | 1.000 |
| 14:77459753:G:C | R73P | 1.000 |
| 14:77459755:A:G | K74E | 1.000 |
| 14:77459756:A:T | K74I | 1.000 |
| 14:77459757:A:C | K74N | 1.000 |
| 14:77459757:A:T | K74N | 1.000 |
| 14:77458217:C:A | R10S | 0.999 |
| 14:77458221:G:C | W11S | 0.999 |
| 14:77458241:G:C | D18H | 0.999 |
| 14:77458250:A:G | N21D | 0.999 |
| 14:77458254:T:A | V22D | 0.999 |
| 14:77458257:A:T | N23I | 0.999 |
| 14:77458263:G:C | W25S | 0.999 |
| 14:77458266:A:G | H26R | 0.999 |
| 14:77458267:C:A | H26Q | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000084027 (14:77461006 A>C,G), RS1000438011 (14:77467066 G>A), RS1000486366 (14:77469461 A>G,T), RS1000715392 (14:77458137 G>C), RS1001529122 (14:77460545 T>C), RS1002563391 (14:77468924 T>G), RS1002616016 (14:77462314 A>G,T), RS1002663980 (14:77464694 G>A), RS1003204456 (14:77459173 C>G,T), RS1003903692 (14:77458954 T>C), RS1004012445 (14:77461531 CG>C,CGG), RS1004182366 (14:77467140 T>G), RS1004669579 (14:77468962 C>T), RS1004683929 (14:77462946 T>A,C,G), RS1004906979 (14:77457700 C>A)
Disease associations
OMIM: gene MIM:608466 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3309113 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
1 potent at pChembl≥5 of 3 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.52 | IC50 | 300 | nM | CHEMBL4536929 |
PubChem BioAssay actives
1 with measured affinity, of 4 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 |
|---|---|---|---|---|
| 1-[[1-(4-fluorophenyl)pyrrole-2-carbonyl]amino]-3-[3-(trifluoromethyl)phenyl]thiourea | 2100615: Inhibition of human recombinant Aha1 expressed in Escherichia coli BL21 (DE3) | ic50 | 0.3000 | uM |
CTD chemical–gene interactions
54 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases reaction, affects cotreatment, increases abundance, increases expression, affects binding | 4 |
| Tobacco Smoke Pollution | increases expression | 3 |
| Cyclosporine | increases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| bisphenol A | increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| cupric oxide | increases phosphorylation | 1 |
| celastrol | increases expression | 1 |
| microcystin RR | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-phenylbutyric acid | increases expression | 1 |
| azoxystrobin | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| chloropicrin | increases expression | 1 |
| gedunin | 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 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| picoxystrobin | increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Acetaminophen | affects response to substance | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Antimycin A | increases 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 |
|---|---|---|---|
| CHEMBL3379288 | Binding | Binding affinity to Aha1 (unknown origin) using FITC-labeled compound up to 5 uM by fluorescence polarization assay | Potential C-terminal-domain inhibitors of heat shock protein 90 derived from a C-terminal peptide helix. — Bioorg Med Chem |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E1PV | HAP1 AHSA1 (-) 2 | Cancer cell line | Male |
| CVCL_E1PW | HAP1 AHSA1 (-) 3 | Cancer cell line | Male |
| CVCL_E1PX | HAP1 AHSA1 (-) 4 | Cancer cell line | Male |
| CVCL_XL14 | HAP1 AHSA1 (-) 1 | Cancer cell line | Male |
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.