{{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<nowiki/>p36.13.<ref>{{Cite web|title=HSPB7|url=https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5249|last=|first=|date=|website=HUGO Gene Nomenclature Committee|archive-url=|archive-date=|access-date=}}</ref><sup>,</sup>.<ref>{{Cite web|title=HSPB7 heat shock protein family B (small) member 7 [ Homo sapiens (human)]|url=https://www.ncbi.nlm.nih.gov/gene/27129|last=|first=|date=|website=The National Center for Biotechnology Information|archive-url=|archive-date=|access-date=}}</ref> HSPB7 contains 170 amino acids and has a molecular weight of 18,611Da.<ref>{{Cite web|title=HSPB7_HUMAN|url=https://www.uniprot.org/uniprot/?query=hspb7&sort=score|last=|first=|date=|website=UniProt|archive-url=|archive-date=|access-date=}}</ref> HSPB7 is a member of human small heat shock protein (HSPB) family, which contains eleven family members of chaperone proteins.<ref name=":0">{{cite journal | vauthors = Vos MJ, Kanon B, Kampinga HH | title = HSPB7 is a SC35 speckle resident small heat shock protein | journal = Biochimica et Biophysica Acta (BBA) - Molecular Cell Research | volume = 1793 | issue = 8 | pages = 1343–53 | date = August 2009 | pmid = 19464326 | doi = 10.1016/j.bbamcr.2009.05.005 | doi-access = free }}</ref> HSPB7 and its gene pair SRARP are located 5 kb apart on the opposite strands of chromosome 1p36.13.<ref name=":1">{{cite journal | vauthors = Naderi A | title = SRARP and HSPB7 are epigenetically regulated gene pairs that function as tumor suppressors and predict clinical outcome in malignancies | journal = Molecular Oncology | volume = 12 | issue = 5 | pages = 724–755 | date = May 2018 | pmid = 29577611 | pmc = 5928383 | doi = 10.1002/1878-0261.12195 }}</ref>
==Expression and molecular function==
HSPB7 is widely expressed throughout the body and its highest expression is observed in the cardiac tissue <ref name=":0" /><sup>,</sup>.<ref>{{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 }}</ref> 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.<ref name=":2">{{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 | hdl = 11380/703938 | hdl-access = free }}</ref> Among these proteins, HSPB7 is the most potent polyQ aggregation suppressor within the HSPB family of chaperones.<ref name=":2" /> In addition, HSPB7 protein contains a HSP20 domain and strongly interacts with the chaperone protein 14-3-3.<ref name=":1" /> An interaction with the 14-3-3 protein is a common molecular feature between HSPB7 and SRARP proteins <ref name=":1" /><sup>,</sup><ref>{{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 }}</ref>
==Role in cardiomyopathy and Cancer==
HSPB7 has cardiac protective functions and mutations in this gene leads to cardiomyopathies.<ref name=":2" /> It has been suggested that HSPB7 cardioprotective function is mediated by facilitating sarcomeric proteostasis.<ref>{{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 }}</ref> 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<ref name=":1" /><sup>,</sup>.<ref name=":3">{{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 }}</ref> 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.<ref name=":1" /> In addition, it has been suggested that HSBP7 is regulated by p53 tumor suppressor in renal cell carcinoma.<ref name=":3" />
{| 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] |}
== References == {{Reflist}}
Category:Genes on human chromosome 1 Category:Human proteins