BAZ1B

BAZ1B
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1F62
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
Gene location (Human)
Chr.	Chromosome 7 (human)
End	73,522,293 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	135,274,983 bp
RNA expression pattern
	Top expressed in
	oocyte; ; secondary oocyte; ; ventricular zone; ; ganglionic eminence; ; sural nerve; ; Achilles tendon; ; cerebellar vermis; ; stromal cell of endometrium; ; islet of Langerhans; ; paraflocculus of cerebellum;
	Top expressed in
	Ileal epithelium; ; tail of embryo; ; mandibular prominence; ; maxillary prominence; ; genital tubercle; ; zygote; ; secondary oocyte; ; condyle; ; ventricular zone; ; tibiofemoral joint;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	transferase activity; nucleotide binding; histone kinase activity; histone binding; non-membrane spanning protein tyrosine kinase activity; metal ion binding; kinase activity; protein binding; protein tyrosine kinase activity; ATP binding; zinc ion binding;
Cellular component	pericentric heterochromatin; nuclear replication fork; nucleoplasm; condensed chromosome; nucleus; nuclear body;
Biological process	epigenetic maintenance of chromatin in transcription-competent conformation; chromatin remodeling; phosphorylation; transcription, DNA-templated; cellular response to DNA damage stimulus; peptidyl-tyrosine phosphorylation; regulation of transcription, DNA-templated; regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	9031
	22385
	ENSG00000009954
	ENSMUSG00000002748
	Q9UIG0
	Q9Z277
	NM_023005; NM_032408; NM_001370402
	NM_011714
	NP_115784; NP_001357331
	NP_035844
	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]

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000009954 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000002748 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: BAZ1B bromodomain adjacent to zinc finger domain, 1B".
^ 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.
^ Marshall M (Dec 14, 2019). "A single gene controls how our faces develop when we are young". New Scientist.

External links

BAZ1B+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
Human BAZ1B genome location and BAZ1B gene details page in the UCSC Genome Browser.

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

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000009954 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[pmid9858827-5] 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.

[pmid9828126-6] 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.

[entrez-7] "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.

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BAZ1B

Function

References

Further reading

External links