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Aliases for AHSA1 Gene

Aliases for AHSA1 Gene

  • Activator Of HSP90 ATPase Activity 1 2 3 5
  • C14orf3 3 4
  • AHA1 3 4
  • P38 3 4
  • AHA1, Activator Of Heat Shock 90kDa Protein ATPase Homolog 1 (Yeast) 2
  • AHA1, Activator Of Heat Shock 90kDa Protein ATPase Homolog 1 3
  • Activator Of 90 KDa Heat Shock Protein ATPase Homolog 1 3
  • Chromosome 14 Open Reading Frame 3 2
  • HAha1 3

External Ids for AHSA1 Gene

Previous HGNC Symbols for AHSA1 Gene

  • C14orf3

Previous GeneCards Identifiers for AHSA1 Gene

  • GC14P075914
  • GC14P076994
  • GC14P077924
  • GC14P058090

Summaries for AHSA1 Gene

GeneCards Summary for AHSA1 Gene

AHSA1 (Activator Of HSP90 ATPase Activity 1) is a Protein Coding gene. Diseases associated with AHSA1 include Stomatitis and Hypoparathyroidism-Deafness-Renal Disease Syndrome. Among its related pathways are Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF) and T cell receptor signaling pathway. GO annotations related to this gene include chaperone binding and ATPase activator activity. An important paralog of this gene is AHSA2.

UniProtKB/Swiss-Prot for AHSA1 Gene

  • 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 (PubMed:27353360).

Gene Wiki entry for AHSA1 Gene

Additional gene information for AHSA1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AHSA1 Gene

Genomics for AHSA1 Gene

Regulatory Elements for AHSA1 Gene

Enhancers for AHSA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H077312 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -142.4 -142399 5 TBP PKNOX1 NFIB INSM2 ARID4B SIN3A ZNF2 RAD21 ZNF143 RCOR1 TMED8 GSTZ1 NGB ZDHHC22 ENSG00000201384 SAMD15 AHSA1 VIPAS39 TMEM63C POMT2
GH14H077301 1.5 Ensembl ENCODE dbSUPER 10.5 -152.8 -152787 6 PKNOX1 FOXA2 ATF1 ARID4B SIN3A FEZF1 ZNF2 ZNF207 ATF7 FOS VIPAS39 IRF2BPL GSTZ1 ALKBH1 NGB MIR1260A ZDHHC22 ENSG00000201384 SAMD15 TMED8
GH14H077541 1.2 Ensembl ENCODE dbSUPER 11.6 +85.4 85428 3 HDGF FOXA2 FEZF1 ATF2 TCF12 ZFHX2 PRDM6 IKZF1 HMBOX1 ATF7 TMED8 VIPAS39 AHSA1 SAMD15 SPTLC2 ISM2 RN7SL587P GC14M077506
GH14H077371 1.1 Ensembl ENCODE 10.7 -84.9 -84946 3 PKNOX1 FOXA2 INSM2 ZNF366 FOS ATF7 RCOR1 RUNX3 IKZF2 MIXL1 TMED8 POMT2 GSTZ1 ENSG00000259081 AHSA1 VIPAS39 SAMD15 LOC100422225
GH14H077406 1 Ensembl ENCODE 11.2 -50.6 -50570 1 HDAC1 LEF1 TAL1 CEBPG TCF12 ZFHX2 ZNF766 GATA3 NCOR1 ATF7 SAMD15 TMED8 AHSA1 VIPAS39 GSTZ1 POMT2 GC14M077403 NOXRED1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AHSA1 on UCSC Golden Path with GeneCards custom track

Promoters for AHSA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000071155 130 2801 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1

Genomic Location for AHSA1 Gene

Chromosome:
14
Start:
77,457,870 bp from pter
End:
77,469,474 bp from pter
Size:
11,605 bases
Orientation:
Plus strand

Genomic View for AHSA1 Gene

Genes around AHSA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AHSA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AHSA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AHSA1 Gene

Proteins for AHSA1 Gene

  • Protein details for AHSA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95433-AHSA1_HUMAN
    Recommended name:
    Activator of 90 kDa heat shock protein ATPase homolog 1
    Protein Accession:
    O95433
    Secondary Accessions:
    • B2R9L2
    • B4DUR9
    • Q96IL6
    • Q9P060

    Protein attributes for AHSA1 Gene

    Size:
    338 amino acids
    Molecular mass:
    38274 Da
    Quaternary structure:
    • Interacts with HSPCA/HSP90 and with the cytoplasmic tail of the vesicular stomatitis virus glycoprotein (VSV G). Interacts with GCH1. Interacts with SRPK1. Interacts with FLCN (PubMed:27353360). Interacts with HSP90AA1; the interaction activates HSP90AA1 ATPase activity (PubMed:27353360). Interacts with HSP90AB1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for AHSA1 Gene

    Alternative splice isoforms for AHSA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AHSA1 Gene

Post-translational modifications for AHSA1 Gene

  • Ubiquitination at posLast=33, Lys94, Lys249, and Lys328
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for AHSA1 (AHSA1)

No data available for DME Specific Peptides for AHSA1 Gene

Domains & Families for AHSA1 Gene

Gene Families for AHSA1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for AHSA1 Gene

Graphical View of Domain Structure for InterPro Entry

O95433

UniProtKB/Swiss-Prot:

AHSA1_HUMAN :
  • Belongs to the AHA1 family.
Family:
  • Belongs to the AHA1 family.
genes like me logo Genes that share domains with AHSA1: view

Function for AHSA1 Gene

Molecular function for AHSA1 Gene

UniProtKB/Swiss-Prot 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 (PubMed:27353360).
UniProtKB/Swiss-Prot Induction:
By heat shock and treatment with the HSP90 inhibitor 17-demethoxygeldanamycin (17AAG).

Gene Ontology (GO) - Molecular Function for AHSA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001671 ATPase activator activity IDA 12504007
GO:0005515 protein binding IPI 12604615
GO:0045296 cadherin binding IDA 25468996
GO:0051087 chaperone binding IEA,IDA 12504007
genes like me logo Genes that share ontologies with AHSA1: view
genes like me logo Genes that share phenotypes with AHSA1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AHSA1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AHSA1 Gene

Localization for AHSA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AHSA1 Gene

Cytoplasm, cytosol. Endoplasmic reticulum. Note=May transiently interact with the endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AHSA1 gene
Compartment Confidence
extracellular 5
cytosol 5
endoplasmic reticulum 3
nucleus 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AHSA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol IDA,IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with AHSA1: view

Pathways & Interactions for AHSA1 Gene

genes like me logo Genes that share pathways with AHSA1: view

Pathways by source for AHSA1 Gene

Gene Ontology (GO) - Biological Process for AHSA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006950 response to stress IEA --
GO:0032781 positive regulation of ATPase activity IEA --
genes like me logo Genes that share ontologies with AHSA1: view

No data available for SIGNOR curated interactions for AHSA1 Gene

Drugs & Compounds for AHSA1 Gene

No Compound Related Data Available

Transcripts for AHSA1 Gene

Unigene Clusters for AHSA1 Gene

AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AHSA1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for AHSA1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11
SP1: - - -
SP2: - - - - - -
SP3: - - - -
SP4:
SP5: - - - -
SP6: - - - - - - - - - - - -
SP7: -
SP8:

Relevant External Links for AHSA1 Gene

GeneLoc Exon Structure for
AHSA1
ECgene alternative splicing isoforms for
AHSA1

Expression for AHSA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AHSA1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AHSA1 Gene



Protein tissue co-expression partners for AHSA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AHSA1 Gene:

AHSA1

SOURCE GeneReport for Unigene cluster for AHSA1 Gene:

Hs.204041

mRNA Expression by UniProt/SwissProt for AHSA1 Gene:

O95433-AHSA1_HUMAN
Tissue specificity: Expressed in numerous tissues, including brain, heart, skeletal muscle and kidney and, at lower levels, liver and placenta.

Evidence on tissue expression from TISSUES for AHSA1 Gene

  • Nervous system(4.9)
  • Lung(4.7)
  • Adrenal gland(4.4)
  • Liver(4.4)
  • Blood(4.2)
  • Skin(3.1)
  • Pancreas(2.5)
  • Heart(2)
genes like me logo Genes that share expression patterns with AHSA1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for AHSA1 Gene

Orthologs for AHSA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AHSA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AHSA1 33 34
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia AHSA1 34 33
  • 94.08 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AHSA1 34 33
  • 92.5 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ahsa1 16 34 33
  • 91.03 (n)
rat
(Rattus norvegicus)
Mammalia Ahsa1 33
  • 90.14 (n)
oppossum
(Monodelphis domestica)
Mammalia AHSA1 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AHSA1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves AHSA1 33 34
  • 74.26 (n)
lizard
(Anolis carolinensis)
Reptilia AHSA1 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ahsa1 33
  • 67.16 (n)
zebrafish
(Danio rerio)
Actinopterygii ahsa1l 34 33
  • 65.78 (n)
OneToMany
ahsa1 34
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG1416 33 34
  • 52.38 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010514 33
  • 51.88 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_C01G10.8 33
  • 49.6 (n)
C01G10.8 34
  • 37 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A04147g 33
  • 43.57 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AHA1 33 34 36
  • 43.27 (n)
HCH1 34
  • 28 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL090W 33
  • 41.91 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G12050 33
  • 44.71 (n)
rice
(Oryza sativa)
Liliopsida Os08g0464000 33
  • 47.82 (n)
Os.8027 33
wheat
(Triticum aestivum)
Liliopsida Ta.1318 33
bread mold
(Neurospora crassa)
Ascomycetes NCU04087 33
  • 45.49 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC1711.08 33
  • 41.61 (n)
Species where no ortholog for AHSA1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for AHSA1 Gene

ENSEMBL:
Gene Tree for AHSA1 (if available)
TreeFam:
Gene Tree for AHSA1 (if available)

Paralogs for AHSA1 Gene

Paralogs for AHSA1 Gene

Pseudogenes.org Pseudogenes for AHSA1 Gene

genes like me logo Genes that share paralogs with AHSA1: view

Variants for AHSA1 Gene

Sequence variations from dbSNP and Humsavar for AHSA1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000084027 -- 77,461,006(+) TACAA(A/G)AAATT intron-variant
rs1000438011 -- 77,467,066(+) GCACC(A/G)TTGGG intron-variant
rs1000486366 -- 77,469,461(+) ACATA(A/G)TTTAA utr-variant-3-prime
rs1000715392 -- 77,458,137(+) GTCCT(C/G)AGGCT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1001529122 -- 77,460,545(+) AGGAA(C/T)CTTCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AHSA1 Gene

Variant ID Type Subtype PubMed ID
nsv1041985 CNV loss 25217958
nsv832835 CNV gain 17160897

Variation tolerance for AHSA1 Gene

Residual Variation Intolerance Score: 40.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.81; 17.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AHSA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AHSA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AHSA1 Gene

Disorders for AHSA1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AHSA1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
stomatitis
hypoparathyroidism-deafness-renal disease syndrome
  • hypoparathyroidism, sensorineural deafness, and renal dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search AHSA1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for AHSA1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AHSA1
genes like me logo Genes that share disorders with AHSA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AHSA1 Gene

Publications for AHSA1 Gene

  1. Aha1 binds to the middle domain of Hsp90, contributes to client protein activation, and stimulates the ATPase activity of the molecular chaperone. (PMID: 12604615) Lotz GP … Obermann WM (The Journal of biological chemistry 2003) 3 4 22 60
  2. The FNIP co-chaperones decelerate the Hsp90 chaperone cycle and enhance drug binding. (PMID: 27353360) Woodford MR … Mollapour M (Nature communications 2016) 3 4 60
  3. AHSA1 regulates proliferation, apoptosis, migration, and invasion of osteosarcoma. (PMID: 26796264) Shao J … Li Y (Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 2016) 2 3 60
  4. Chaperone displacement from mutant cystic fibrosis transmembrane conductance regulator restores its function in human airway epithelia. (PMID: 18556464) Sun F … Frizzell RA (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2008) 3 22 60
  5. Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis. (PMID: 17110338) Wang X … Balch WE (Cell 2006) 3 22 60

Products for AHSA1 Gene

Sources for AHSA1 Gene

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