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BAZ1B

From Wikipedia, the free encyclopedia
BAZ1B
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesBAZ1B, WBSCR10, WBSCR9, WSTF, bromodomain adjacent to zinc finger domain 1B
External IDsOMIM: 605681; MGI: 1353499; HomoloGene: 22651; GeneCards: BAZ1B; OMA:BAZ1B - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_023005
NM_032408
NM_001370402

NM_011714

RefSeq (protein)

NP_115784
NP_001357331

NP_035844

Location (UCSC)Chr 7: 73.44 – 73.52 MbChr 5: 135.22 – 135.27 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Tyrosine-protein kinase, or Bromodomain adjacent to zinc finger domain, 1B (BAZ1B) is an enzyme that in humans is encoded by the BAZ1B gene.[5][6][7]

Function

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This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23.[7]

BAZ1B has been found to affect the activity of 448 other genes and is very important in the development of the neural crest and the face. Research suggests that changes in BAZ1B may have been involved in "self-domesticating" humans.[8][9]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000009954Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000002748Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Peoples RJ, Cisco MJ, Kaplan P, Francke U (Feb 1999). "Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23". Cytogenetics and Cell Genetics. 82 (3–4): 238–46. doi:10.1159/000015110. PMID 9858827. S2CID 46824270.
  6. ^ Lu X, Meng X, Morris CA, Keating MT (December 1998). "A novel human gene, WSTF, is deleted in Williams syndrome". Genomics. 54 (2): 241–9. doi:10.1006/geno.1998.5578. PMID 9828126.
  7. ^ a b "Entrez Gene: BAZ1B bromodomain adjacent to zinc finger domain, 1B".
  8. ^ Zanella M, Vitriolo A, Andirko A, Martins PT, Sturm S, O'Rourke T, et al. (December 2019). "Dosage analysis of the 7q11. 23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication". Science Advances. 5 (12): eaaw7908. Bibcode:2019SciA....5.7908Z. doi:10.1126/sciadv.aaw7908. PMC 6892627. PMID 31840056.
  9. ^ Marshall M (Dec 14, 2019). "A single gene controls how our faces develop when we are young". New Scientist.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.