AHSA1

activator of HSP90 ATPase activity 1

Basic information

Region (hg38): 14:77457870-77469472

Previous symbols: [ "C14orf3" ]

Links

ENSG00000100591 ∙ NCBI:10598 ∙ OMIM:608466 ∙ HGNC:1189 ∙ Uniprot:O95433 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AHSA1 gene.

• not_specified (31 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AHSA1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012111.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			30	2		32
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	30	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AHSA1	protein_coding	protein_coding	ENST00000216479	9	11605

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.00104	125487	0	1	125488	0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.69	119	184	0.648	0.00000999	2205
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000882	0.00000882
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

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}.
• Pathway: T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection (Consensus)

Recessive Scores

• pRec: 0.121

Intolerance Scores

• loftool: 0.150
• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.69

Haploinsufficiency Scores

• pHI: 0.852
• hipred: Y
• hipred_score: 0.825
• ghis: 0.568

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.560

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ahsa1

Zebrafish Information Network

• Gene name: ahsa1a
• Affected structure: regulation of cellular response to stress
• Phenotype tag: abnormal
• Phenotype quality: increased process quality

Gene ontology

• Biological process: positive regulation of ATPase activity
• Cellular component: endoplasmic reticulum;cytosol;extracellular exosome
• Molecular function: ATPase activator activity;protein binding;cadherin binding;chaperone binding;Hsp90 protein binding