Gene Gene information from NCBI Gene database.
Entrez ID 10808
Gene name Heat shock protein family H (Hsp110) member 1
Gene symbol HSPH1
Synonyms (NCBI Gene)
HSP105HSP105AHSP105BNY-CO-25
Chromosome 13
Chromosome location 13q12.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
186
miRTarBase ID miRNA Experiments Reference
MIRT031808 hsa-miR-16-5p Proteomics 18668040
MIRT049463 hsa-miR-92a-3p CLASH 23622248
MIRT048010 hsa-miR-30c-5p CLASH 23622248
MIRT041390 hsa-miR-193b-3p CLASH 23622248
MIRT1057039 hsa-miR-105 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
FOS Activation 20188076
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000774 Function Adenyl-nucleotide exchange factor activity IBA
GO:0000774 Function Adenyl-nucleotide exchange factor activity IDA 24318877
GO:0005515 Function Protein binding IPI 17024176, 23349634, 24318877, 25036637
GO:0005524 Function ATP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610703 16969 ENSG00000120694
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92598
Protein name Heat shock protein 105 kDa (Antigen NY-CO-25) (Heat shock 110 kDa protein) (Heat shock protein family H member 1)
Protein function Acts as a nucleotide-exchange factor (NEF) for chaperone proteins HSPA1A and HSPA1B, promoting the release of ADP from HSPA1A/B thereby triggering client/substrate protein release (PubMed:24318877). Prevents the aggregation of denatured proteins
PDB 6GFA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00012 HSP70 3 708 Hsp70 protein Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis. Present at lower levels in most brain regions, except cerebellum. Overexpressed in cancer cells. {ECO:0000269|PubMed:10865058, ECO:0000269|PubMed:16232202}.
Sequence
MSVVGLDVGSQSCYIAVARAGGIETIANEFSDRCTPSVISFGSKNRTIGVAAKNQQITHA
NNTVSNFKRFHGRAFNDPFIQKEKENLSYDLVPLKNGGVGIKVMYMGEEHLFSVEQITAM
LLTKLKETAENSLKKPVTDCVISVPSFFTDAERRSVLDAAQIVGLNCLRLMNDMTAVALN
YGIYKQDLPSLDEKPRIVVFVDMGHSAFQVSACAFNKGKLKVLGTAFDPFLGGKNFDEKL
VEHFCAEFKTKYKLDAKSKIRALLRLYQECEKLKKLMSSNSTDLPLNIECFMNDKDVSGK
MNRSQFEELCAELLQKIEVPLYSLLEQTHLKVEDVSAVEIVGGATRIPAVKERIAKFFGK
DISTTLNADEAVARGCALQCAILSPAFKVREFSVTDAVPFPISLIWNHDSEDTEGVHEVF
SRNHAAPFSKVLTFLRRGPFELEAFYSDPQGVPYPEAKIGRFVVQNVSAQKDGEKSRVKV
KVRVNTHGIFTISTASMVEKVPTEENEMSSEADMECLNQRPPENPDTDKNVQQDNSEAGT
QPQVQTDAQQTSQSPPSPELTSEENKIPDADKANEKKVDQPPEAKKPKIKVVNVELPIEA
NLVWQLGKDLLNMYIETEGKMIMQDKLEKERNDAKNAVEEYVYEFRDKLCGPYEKFICEQ
DHQNFLRLLTETEDWLYEEGEDQAKQAYVDKLEELMKIGTPVKVRFQE
AEERPKMFEELG
QRLQHYAKIAADFRNKDEKYNHIDESEMKKVEKSVNEVMEWMNNVMNAQAKKSLDQDPVV
RAQEIKTKIKELNNTCEPVVTQPKPKIESPKLERTPNGPNIDKKEEDLEDKNNFGAEPPH
QNGECYPNEKNSVNMDLD
Sequence length 858
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein processing in endoplasmic reticulum   Scavenging by Class F Receptors
Regulation of HSF1-mediated heat shock response
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Uncertain significance rs200964846 RCV005926971
Thyroid cancer, nonmedullary, 1 Benign rs181708109 RCV005905156
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 25645927, 37338518, 39550832
Carcinoma Squamous Cell Associate 32991423
Coronary Artery Disease Associate 28980286
Depressive Disorder Major Associate 36672180
Diabetes Mellitus Associate 35855056
Esophagitis Associate 22901192
Glycogen Storage Disease Type II Associate 32407518
Hutchinson's Melanotic Freckle Stimulate 34618840
Macular Degeneration Associate 30389371
Melanoma Associate 25645927