Description: Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA. RefSeq Summary (NM_006644): This gene encodes a member of the heat shock protein 70 family of proteins. The encoded protein functions as a nucleotide exchange factor for the molecular chaperone heat shock cognate 71 kDa protein (Hsc70). In addition, this protein plays a distinct but related role as a holdase that inhibits the aggregation of misfolded proteins, including the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Elevated expression of this protein has been observed in numerous human cancers. [provided by RefSeq, Mar 2017]. Transcript (Including UTRs) Position: hg19 chr13:31,710,763-31,736,117 Size: 25,355 Total Exon Count: 18 Strand: - Coding Region Position: hg19 chr13:31,711,455-31,735,719 Size: 24,265 Coding Exon Count: 18
ID:HS105_HUMAN DESCRIPTION: RecName: Full=Heat shock protein 105 kDa; AltName: Full=Antigen NY-CO-25; AltName: Full=Heat shock 110 kDa protein; FUNCTION: Prevents the aggregation of denatured proteins in cells under severe stress, on which the ATP levels decrease markedly. Inhibits HSPA8/HSC70 ATPase and chaperone activities (By similarity). SUBUNIT: Interacts with HSPA8/HSC70 (By similarity). SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Highly expressed in testis. Present at lower levels in most brain regions, except cerebellum. Overexpressed in cancer cells. PTM: Phosphorylation on Ser-509 may be important for regulation of the HSPA8/HSC70 chaperone activity (By similarity). SIMILARITY: Belongs to the heat shock protein 70 family. SEQUENCE CAUTION: Sequence=AAC18044.1; Type=Erroneous initiation; Sequence=BAA13192.2; Type=Erroneous initiation; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/HSPH1ID40891ch13q12.html";
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): HSPH1 CDC HuGE Published Literature: HSPH1 Positive Disease Associations: Body Mass Index
, Body Weight Related Studies:
Body Mass Index Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
[PubMed 17903300]
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
Body Mass Index Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
[PubMed 17903300]
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
Body Mass Index Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
[PubMed 17903300]
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
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.
ModBase Predicted Comparative 3D Structure on Q92598
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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.
Biological Process: GO:0006898 receptor-mediated endocytosis GO:0006986 response to unfolded protein GO:0045345 positive regulation of MHC class I biosynthetic process GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0051085 chaperone mediated protein folding requiring cofactor GO:0051135 positive regulation of NK T cell activation GO:0061098 positive regulation of protein tyrosine kinase activity GO:1900034 regulation of cellular response to heat GO:1903748 negative regulation of establishment of protein localization to mitochondrion GO:1903751 negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide GO:1903753 negative regulation of p38MAPK cascade GO:2001234 negative regulation of apoptotic signaling pathway
US Server
