AHSA1

protein-coding

activator of HSP90 ATPase activity 1

Gene summary

Enables several functions, including Hsp90 protein binding activity; protein folding chaperone; and unfolded protein binding activity. Involved in maintenance of unfolded protein and positive regulation of ATP-dependent activity. Located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C14orf3

MANE transcript

NM_012111.3

Inheritance

—

ClinVar variants

U:39B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chr14:77,457,870-77,469,472

External References & Databases

Ensembl (ENSG00000100591)

Transcript & Mutation Effects

hg38 • Region Span ~11.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to AHSA1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 36

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_012111.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					2 clinvar	2
missense			33 clinvar	2 clinvar		35
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	39	2	2	43

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 34 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_012111.3	RefSeq	NP_036243.1	9	MANE Select
ENST00000216479.8	Ensembl	ENSP00000216479.3	9	MANE Select
NM_001321441.2	RefSeq	NP_001308370.1	6	Standard
ENST00000535854.6	Ensembl	ENSP00000440108.2	9	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
ahsa1a	Danio rerio	Structure: regulation of cellular response to stress Quality: increased process quality abnormal

Gene / Model

Organism

Observed Phenotype

ahsa1a

Danio rerio

Structure: regulation of cellular response to stress

Quality: increased process quality

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection

Biological Process

positive regulation of ATPase activity

Molecular Function

ATPase activator activity
protein binding
cadherin binding
chaperone binding
Hsp90 protein binding

Cellular Component

endoplasmic reticulum
cytosol
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000216479
Coding exons: 9
Length: 11605
Individuals with no LoFs: 125487
Homozygous LoFs: 0
Heterozygous LoFs: 1
Defined: 125488
p: 0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.69	119	184	0.648	0.00000999	2205
Missense (PolyPhen)		41	69.534	0.58964		878
Synonymous	0.888	58	67.3	0.862	0.00000386	623
Loss of Function	4.14	0	19.9	0.00	9.97e-7	238

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000088	0.0000088	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Acts as a co-chaperone of HSP90AA1 (PubMed:29127155). Activates the ATPase activity of HSP90AA1 leading to increase in its chaperone activity (PubMed:29127155). Competes with the inhibitory co-chaperone FNIP1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:27353360). Competes with the inhibitory co-chaperone TSC1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:29127155). {ECO:0000269|PubMed:27353360, ECO:0000269|PubMed:29127155}.;

Recessive Scores

pRec: 0.121

Intolerance Scores

LoFtool: 0.150
RVIS EVS: -0.32
RVIS percentile EVS: 31.69

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.560

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium