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    AHSA1 activator of HSP90 ATPase activity 1 [ Homo sapiens (human) ]

    Gene ID: 10598, updated on 27-Nov-2024

    Summary

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    Official Symbol
    AHSA1provided by HGNC
    Official Full Name
    activator of HSP90 ATPase activity 1provided by HGNC
    Primary source
    HGNC:HGNC:1189
    See related
    Ensembl:ENSG00000100591 MIM:608466; AllianceGenome:HGNC:1189
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    p38; AHA1; hAha1; C14orf3
    Summary
    Enables ATPase activator activity; Hsp90 protein binding activity; and protein-folding chaperone binding activity. Involved in positive regulation of ATP-dependent activity. Located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 60.3), adrenal (RPKM 41.8) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See AHSA1 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (77457867..77469472)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (71667250..71678844)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (77924210..77935815)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene NADP dependent oxidoreductase domain containing 1 Neighboring gene VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:77923742-77924264 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:77924265-77924787 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77950905-77951405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77957001-77957502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77957503-77958002 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5973 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5975 Neighboring gene isthmin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8803 Neighboring gene serine palmitoyltransferase long chain base subunit 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:78008897-78009398 Neighboring gene RNA, 7SL, cytoplasmic 587, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of AHSA1 as a Potential Therapeutic Target for Breast Cancer: Bioinformatics Analysis and in vitro Studies. Shi W, et al. Curr Cancer Drug Targets, 2022. PMID 35034596
    2. Aha-type co-chaperones: the alpha or the omega of the Hsp90 ATPase cycle? LaPointe P, et al. Biol Chem, 2020 Mar 26. PMID 31782942
    3. Human Aha1's N-terminal extension confers it holdase activity in vitro. Tang J, et al. Protein Sci, 2023 Sep. PMID 37486705, Free PMC Article
    4. Dynamic Aha1 co-chaperone binding to human Hsp90. Oroz J, et al. Protein Sci, 2019 Sep. PMID 31299134, Free PMC Article
    5. The Prognostic and Immunotherapeutic Significance of AHSA1 in Pan-Cancer, and Its Relationship With the Proliferation and Metastasis of Hepatocellular Carcinoma. Li W, et al. Front Immunol, 2022. PMID 35757728, Free PMC Article

    See all (145) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Recruitment of Ahsa1 to Hsp90 is regulated by a conserved peptide that inhibits ATPase stimulation.
      Title: Recruitment of Ahsa1 to Hsp90 is regulated by a conserved peptide that inhibits ATPase stimulation.
    2. Human Aha1's N-terminal extension confers it holdase activity in vitro.
      Title: Human Aha1's N-terminal extension confers it holdase activity in vitro.
    3. p23 and Aha1: Distinct Functions Promote Client Maturation.
      Title: p23 and Aha1: Distinct Functions Promote Client Maturation.
    4. The Prognostic and Immunotherapeutic Significance of AHSA1 in Pan-Cancer, and Its Relationship With the Proliferation and Metastasis of Hepatocellular Carcinoma.
      Title: The Prognostic and Immunotherapeutic Significance of AHSA1 in Pan-Cancer, and Its Relationship With the Proliferation and Metastasis of Hepatocellular Carcinoma.
    5. Identification of AHSA1 as a Potential Therapeutic Target for Breast Cancer: Bioinformatics Analysis and in vitro Studies.
      Title: Identification of AHSA1 as a Potential Therapeutic Target for Breast Cancer: Bioinformatics Analysis and in vitro Studies.
    6. AHA1 upregulates IDH1 and metabolic activity to promote growth and metastasis and predicts prognosis in osteosarcoma.
      Title: AHA1 upregulates IDH1 and metabolic activity to promote growth and metastasis and predicts prognosis in osteosarcoma.
    7. Aha-type co-chaperones: the alpha or the omega of the Hsp90 ATPase cycle?
      Title: Aha-type co-chaperones: the alpha or the omega of the Hsp90 ATPase cycle?
    8. 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.
      Title: Dynamic Aha1 co-chaperone binding to human Hsp90.
    9. Aha1 colocalized with tau pathology in brain tissue, and this association positively correlated with Alzheimer disease progression.
      Title: Hsp90 activator Aha1 drives production of pathological tau aggregates.
    10. These results suggest that differences in the middle domain of Hsp90alpha and Hsp90beta may be responsible for the isoform-specific interactions with selected proteins.
      Title: Middle domain of human Hsp90 isoforms differentially binds Aha1 in human cells and alters Hsp90 activity in yeast.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATPase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables Hsp90 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables cadherin binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-folding chaperone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of ATP-dependent activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    activator of 90 kDa heat shock protein ATPase homolog 1
    Names
    AHA1, activator of heat shock 90kDa protein ATPase homolog 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001321441.2 → NP_001308370.1  activator of 90 kDa heat shock protein ATPase homolog 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AF111168, AF161440, BC000321, BQ073652, CX786861
      UniProtKB/TrEMBL
      G3V438
      Related
      ENSP00000451569.1, ENST00000555133.5
      Conserved Domains (1) summary
      cd08892
      Location:73 → 198
      SRPBCC_Aha1; Putative hydrophobic ligand-binding SRPBCC domain of the Hsp90 co-chaperone Aha1 and related proteins

    2. NM_012111.3 → NP_036243.1  activator of 90 kDa heat shock protein ATPase homolog 1 isoform 1

      See identical proteins and their annotated locations for NP_036243.1

      Status: VALIDATED

      Source sequence(s)
      AF161440, BC000321
      Consensus CDS
      CCDS9863.1
      UniProtKB/Swiss-Prot
      B2R9L2, B4DUR9, O95433, Q96IL6, Q9P060
      Related
      ENSP00000216479.3, ENST00000216479.8
      Conserved Domains (2) summary
      cd08892
      Location:208 → 333
      SRPBCC_Aha1; Putative hydrophobic ligand-binding SRPBCC domain of the Hsp90 co-chaperone Aha1 and related proteins
      smart01000
      Location:29 → 158
      Aha1_N; Activator of Hsp90 ATPase, N-terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      77457867..77469472
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      71667250..71678844
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95433.1 GenPept UniProtKB/Swiss-Prot:O95433

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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