HSPB7
{{Short description|Gene of the species Homo sapiens}}
{{infobox gene}}
Heat Shock Protein Family B (small) member 7 (HSPB7) in humans is a protein encoded by a gene of the same name with four exons that is located on chromosome 1
Expression and molecular function
HSPB7 is widely expressed throughout the body and its highest expression is observed in the cardiac tissue ,.{{cite journal | vauthors = Wu T, Mu Y, Bogomolovas J, Fang X, Veevers J, Nowak RB, Pappas CT, Gregorio CC, Evans SM, Fowler VM, Chen J | display-authors = 6 | title = HSPB7 is indispensable for heart development by modulating actin filament assembly | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 114 | issue = 45 | pages = 11956–11961 | date = November 2017 | pmid = 29078393 | pmc = 5692592 | doi = 10.1073/pnas.1713763114 | bibcode = 2017PNAS..11411956W | doi-access = free }} HSPB protein family, including HSPB7, act protectively on aggregation of several proteins containing an extended polyglutamine (polyQ) stretch that are linked to a variety of neurodegenerative diseases.{{cite journal | vauthors = Vos MJ, Zijlstra MP, Kanon B, van Waarde-Verhagen MA, Brunt ER, Oosterveld-Hut HM, Carra S, Sibon OC, Kampinga HH | display-authors = 6 | title = HSPB7 is the most potent polyQ aggregation suppressor within the HSPB family of molecular chaperones | journal = Human Molecular Genetics | volume = 19 | issue = 23 | pages = 4677–93 | date = December 2010 | pmid = 20843828 | doi = 10.1093/hmg/ddq398 | doi-access = free }} Among these proteins, HSPB7 is the most potent polyQ aggregation suppressor within the HSPB family of chaperones. In addition, HSPB7 protein contains a HSP20 domain and strongly interacts with the chaperone protein 14-3-3. An interaction with the 14-3-3 protein is a common molecular feature between HSPB7 and SRARP proteins ,{{cite journal | vauthors = Naderi A | title = C1orf64 is a novel androgen receptor target gene and coregulator that interacts with 14-3-3 protein in breast cancer | journal = Oncotarget | volume = 8 | issue = 34 | pages = 57907–57933 | date = August 2017 | pmid = 28915724 | pmc = 5593696 | doi = 10.18632/oncotarget.17826 }}
Role in cardiomyopathy and Cancer
HSPB7 has cardiac protective functions and mutations in this gene leads to cardiomyopathies. It has been suggested that HSPB7 cardioprotective function is mediated by facilitating sarcomeric proteostasis.{{cite journal | vauthors = Mercer EJ, Lin YF, Cohen-Gould L, Evans T | title = Hspb7 is a cardioprotective chaperone facilitating sarcomeric proteostasis | journal = Developmental Biology | volume = 435 | issue = 1 | pages = 41–55 | date = March 2018 | pmid = 29331499 | pmc = 5818303 | doi = 10.1016/j.ydbio.2018.01.005 }} Furthermore, HSPB7 is widely inactivated in malignancies by copy-number loss and epigenetic silencing and the overexpression of this protein results in a tumor suppressor function in multiple cancer cell lines,.{{cite journal | vauthors = Lin J, Deng Z, Tanikawa C, Shuin T, Miki T, Matsuda K, Nakamura Y | title = Downregulation of the tumor suppressor HSPB7, involved in the p53 pathway, in renal cell carcinoma by hypermethylation | journal = International Journal of Oncology | volume = 44 | issue = 5 | pages = 1490–8 | date = May 2014 | pmid = 24585183 | pmc = 4027944 | doi = 10.3892/ijo.2014.2314 }} The overexpression of HSPB7 and its gene pair SRARP lead to a reduction in the relative phosphorylation and/or expression of Akt and ERK in cancer cells. In addition, it has been suggested that HSBP7 is regulated by p53 tumor suppressor in renal cell carcinoma.
| class="wikitable" | |
| Approved Symbol | HSPB7 |
|---|---|
| Approved Name | Heat shock protein family B (small) member 7 |
| HGNC ID | [https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5249 HGNC:5249] |
| Previous name | heat shock 27kD protein family, member 7 (cardiovascular) |
| Alias Symbols | cvHSP |
| Chromosome location | 1p36.13 |
| Ensembl | [https://asia.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000173641;r=1:16014028-16019594 ENSG00000173641] |
| UniProt | [https://www.uniprot.org/uniprot/Q9UBY9 Q9UBY9] |
| NCBI Gene | [https://www.ncbi.nlm.nih.gov/gene/27129 27129] |
| RefSeq | [https://www.ncbi.nlm.nih.gov/nuccore/NM_014424 NM_014424] |
| UCSC | [http://genome.cse.ucsc.edu/cgi-bin/hgGene?org=Human&hgg_chrom=none&hgg_type=knownGene&hgg_gene=uc001axo.2 uc001axo.2] |
| Protein Sequence | [https://asia.ensembl.org/Homo_sapiens/Transcript/Sequence_Protein?db=core;g=ENSG00000173641;r=1:16014028-16019594;t=ENST00000311890 HSPB7 Protein Sequence (Ensembl)] |
| Wikidata | [https://www.wikidata.org/wiki/Q18038659 Q18038659] |
| PubMed | [https://pubmed.ncbi.nlm.nih.gov/?from_uid=27129&linkname=gene_pubmed HSPB7 PubMed References] |