BAZ1B

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]

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)[1] Band 7q11.23 Start 73,440,406 bp[1] End 73,522,293 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 G2 Start 135,216,118 bp[2] End 135,274,983 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse 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

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]