BAZ1B

Last updated
BAZ1B
Protein BAZ1B PDB 1f62.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases BAZ1B , WBSCR10, WBSCR9, WSTF, bromodomain adjacent to zinc finger domain 1B
External IDs OMIM: 605681; MGI: 1353499; HomoloGene: 22651; GeneCards: BAZ1B; OMA:BAZ1B - orthologs
Orthologs
SpeciesHumanMouse
Entrez

9031

22385

Ensembl

ENSG00000009954

ENSMUSG00000002748

UniProt

Q9UIG0

Q9Z277

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 Mb Chr 5: 135.22 – 135.27 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/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]

Contents

Function

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]

Related Research Articles

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DnaJ homolog subfamily C member 30 (DNAJC30), also known as Williams Beuren syndrome chromosome region 18 protein (WBSCR18), is a protein that in humans is encoded by the DNAJC30 gene. This intronless gene encodes a member of the DNAJ molecular chaperone homology domain-containing protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000009954 – Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000002748 – Ensembl, 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. 1 2 "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

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

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