Human Gene AHSA1 (ENST00000216479.8_4) from GENCODE V47lift37
  Description: activator of HSP90 ATPase activity 1, transcript variant 1 (from RefSeq NM_012111.3)
Gencode Transcript: ENST00000216479.8_4
Gencode Gene: ENSG00000100591.8_13
Transcript (Including UTRs)
   Position: hg19 chr14:77,924,436-77,935,815 Size: 11,380 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr14:77,924,533-77,935,592 Size: 11,060 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:77,924,436-77,935,815)mRNA (may differ from genome)Protein (338 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AHSA1_HUMAN
DESCRIPTION: RecName: Full=Activator of 90 kDa heat shock protein ATPase homolog 1; Short=AHA1; AltName: Full=p38;
FUNCTION: Cochaperone that stimulates HSP90 ATPase activity (By similarity). May affect a step in the endoplasmic reticulum to Golgi trafficking.
SUBUNIT: Interacts with HSPCA/HSP90 and with the cytoplasmic tail of the vesicular stomatitis virus glycoprotein (VSV G). Interacts with GCH1. Interacts with SRPK1.
INTERACTION: P30793:GCH1; NbExp=3; IntAct=EBI-448610, EBI-958183; P07900:HSP90AA1; NbExp=4; IntAct=EBI-448610, EBI-296047;
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Endoplasmic reticulum. Note=May transiently interact with the endoplasmic reticulum.
TISSUE SPECIFICITY: Expressed in numerous tissues, including brain, heart, skeletal muscle and kidney and, at lower levels, liver and placenta.
INDUCTION: By heat shock and treatment with the HSP90 inhibitor 17-demethoxygeldanamycin (17AAG).
SIMILARITY: Belongs to the AHA1 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AHSA1
Diseases sorted by gene-association score: stomatitis (4), hypoparathyroidism-deafness-renal disease syndrome (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 66.43 RPKM in Testis
Total median expression: 1638.03 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -41.2097-0.425 Picture PostScript Text
3' UTR -71.60223-0.321 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013538 - Activator_of_Hsp90_ATPase
IPR015310 - AHSA1_N
IPR023393 - START-like_dom

Pfam Domains:
PF08327 - Activator of Hsp90 ATPase homolog 1-like protein
PF09229 - Activator of Hsp90 ATPase, N-terminal

SCOP Domains:
55961 - Bet v1-like
103111 - Activator of Hsp90 ATPase, Aha1

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1X53 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on O95433
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
Gene SorterGene Sorter Gene Sorter Gene Sorter
 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001671 ATPase activator activity
GO:0005515 protein binding
GO:0045296 cadherin binding
GO:0051087 chaperone binding
GO:0051879 Hsp90 protein binding

Biological Process:
GO:0006950 response to stress
GO:0032781 positive regulation of ATPase activity

Cellular Component:
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK300766 - Homo sapiens cDNA FLJ56675 complete cds, highly similar to Activator of 90 kDa heat shock protein ATPase homolog 1.
JD024704 - Sequence 5728 from Patent EP1572962.
AJ243310 - Homo sapiens mRNA for C14orf3 protein.
BC000321 - Homo sapiens AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast), mRNA (cDNA clone MGC:8474 IMAGE:2821759), complete cds.
AK313824 - Homo sapiens cDNA, FLJ94445, Homo sapiens AHA1, activator of heat shock 90kDa protein ATPasehomolog 1 (yeast) (AHSA1), mRNA.
AF164791 - Homo sapiens putative 38.3kDa protein mRNA, complete cds.
KJ893087 - Synthetic construct Homo sapiens clone ccsbBroadEn_02481 AHSA1 gene, encodes complete protein.
FU772154 - Treatment of Protein Misfolding.
FU772155 - Treatment of Protein Misfolding.
FU772156 - Treatment of Protein Misfolding.
FU772157 - Treatment of Protein Misfolding.
FU772158 - Treatment of Protein Misfolding.
FU772159 - Treatment of Protein Misfolding.
FU772160 - Treatment of Protein Misfolding.
AF161440 - Homo sapiens HSPC322 mRNA, partial cds.
FU772161 - Treatment of Protein Misfolding.
FU772162 - Treatment of Protein Misfolding.
FU772163 - Treatment of Protein Misfolding.
FU772164 - Treatment of Protein Misfolding.
BC007398 - Homo sapiens AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast), mRNA (cDNA clone IMAGE:3835875), partial cds.
FU772165 - Treatment of Protein Misfolding.
FU772170 - Treatment of Protein Misfolding.
FU772171 - Treatment of Protein Misfolding.
FU772173 - Treatment of Protein Misfolding.
FU772174 - Treatment of Protein Misfolding.
FU772175 - Treatment of Protein Misfolding.
FU772176 - Treatment of Protein Misfolding.
FU772177 - Treatment of Protein Misfolding.
FU772178 - Treatment of Protein Misfolding.
FU772179 - Treatment of Protein Misfolding.
FU772180 - Treatment of Protein Misfolding.
FU772181 - Treatment of Protein Misfolding.
FU772182 - Treatment of Protein Misfolding.
FU772183 - Treatment of Protein Misfolding.
FU772184 - Treatment of Protein Misfolding.
FU772185 - Treatment of Protein Misfolding.
FU772186 - Treatment of Protein Misfolding.
FU772187 - Treatment of Protein Misfolding.
FU772188 - Treatment of Protein Misfolding.
FU772189 - Treatment of Protein Misfolding.
FU772190 - Treatment of Protein Misfolding.
FU772191 - Treatment of Protein Misfolding.
FU772192 - Treatment of Protein Misfolding.
FU772194 - Treatment of Protein Misfolding.
FU772196 - Treatment of Protein Misfolding.
FU772197 - Treatment of Protein Misfolding.
FU772198 - Treatment of Protein Misfolding.
JD190383 - Sequence 171407 from Patent EP1572962.
JD142090 - Sequence 123114 from Patent EP1572962.
JD254802 - Sequence 235826 from Patent EP1572962.
JD476340 - Sequence 457364 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AHSA1_HUMAN, B2R9L2, B4DUR9, C14orf3, ENST00000216479.1, ENST00000216479.2, ENST00000216479.3, ENST00000216479.4, ENST00000216479.5, ENST00000216479.6, ENST00000216479.7, HSPC322, NM_012111, O95433, Q96IL6, Q9P060, uc317crc.1, uc317crc.2
UCSC ID: ENST00000216479.8_4
RefSeq Accession: NM_012111.3
Protein: O95433 (aka AHSA1_HUMAN or AHA1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.