BAZ1B bromodomain adjacent to zinc finger domain 1B [Homo sapiens (human)] - Gene

Summary

Official Symbol: BAZ1Bprovided by HGNC
Official Full Name: bromodomain adjacent to zinc finger domain 1Bprovided by HGNC
Primary source: HGNC:HGNC:961
See related: Ensembl:ENSG00000009954 MIM:605681; AllianceGenome:HGNC:961
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: WSTF; WBSCR9; WBSCR10
Summary: 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. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 15.7), ovary (RPKM 15.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q11.23

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (73440406..73522293, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (74640900..74722781, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (72854736..72936623, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Combinatorial targeting of a chromatin complex comprising Dot1L, menin and the tyrosine kinase BAZ1B reveals a new therapeutic vulnerability of endocrine therapy-resistant breast cancer.
Title: Combinatorial targeting of a chromatin complex comprising Dot1L, menin and the tyrosine kinase BAZ1B reveals a new therapeutic vulnerability of endocrine therapy-resistant breast cancer.
Downregulation of Williams syndrome transcription factor (WSTF) suppresses glioblastoma cell growth and invasion by inhibiting PI3K/AKT signal pathway.
Title: Downregulation of Williams syndrome transcription factor (WSTF) suppresses glioblastoma cell growth and invasion by inhibiting PI3K/AKT signal pathway.
Both variants of A1CF and BAZ1B genes are associated with gout susceptibility: a replication study and meta-analysis in a Japanese population.
Title: Both variants of A1CF and BAZ1B genes are associated with gout susceptibility: a replication study and meta-analysis in a Japanese population.
Williams syndrome transcription factor promotes proliferation and invasion of cervical cancer cells by regulating PI3K/Akt signaling pathway.
Title: Williams syndrome transcription factor promotes proliferation and invasion of cervical cancer cells by regulating PI3K/Akt signaling pathway.
The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.
Title: The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.
BAZ1B is a candidate gene responsible for hypothyroidism in Williams syndrome.
Title: BAZ1B is a candidate gene responsible for hypothyroidism in Williams syndrome.
WSTF acetylation by MOF promotes WSTF activities and oncogenic functions.
Title: WSTF acetylation by MOF promotes WSTF activities and oncogenic functions.
a modern-specific enrichment for regulatory changes both in BAZ1B and its experimentally defined downstream targets, is reported.
Title: Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication.
Authors propose that the WSTF-H2AX-RNAPII axis regulates transcription and transcription-coupled homologous recombination repair to maintain genome integrity.
Title: De novo phosphorylation of H2AX by WSTF regulates transcription-coupled homologous recombination repair.
Study revealed a novel component of the chromosome scaffold, BAZ1B, which was localized to the mitotic chromosome axis. Using BAZ1A/B double- knockout cells, results suggest that BAZ1 proteins are essential for timely chromosome condensation at mitosis entry.
Title: Quantitative Proteomics of the Mitotic Chromosome Scaffold Reveals the Association of BAZ1B with Chromosomal Axes.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common variants at 30 loci contribute to polygenic dyslipidemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	The WICH complex, composed of WSTF and SNF2H, are identified to interact with HIV-1 Tat in Jurkat cell	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:1318124 (e-PCR)
- UniSTS:6659

GDB:1317822 (e-PCR)
- UniSTS:4880

GDB:1318352 (e-PCR)
- UniSTS:29469

D7S2024 (e-PCR)
- UniSTS:20513

GDB:1318116 (e-PCR)
- UniSTS:62501

GDB:1318100 (e-PCR)
- UniSTS:51751

GDB:1317340 (e-PCR)
- UniSTS:37417

G20570 (e-PCR)
- UniSTS:77103

RH17036 (e-PCR)
- UniSTS:92238

GDB:4585423 (e-PCR)
- UniSTS:75970

GDB:4585619 (e-PCR)
- UniSTS:46553

BAZ1B_3920 (e-PCR)
- UniSTS:462055

RH65972 (e-PCR)
- UniSTS:30698

D7S3288 (e-PCR)
- UniSTS:254187

D7S3289 (e-PCR)
- UniSTS:254188

GDB:1317820 (e-PCR)
- UniSTS:30197

D7S3300 (e-PCR)
- UniSTS:254199

D7S3301 (e-PCR)
- UniSTS:254200

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables histone H2AXY142 kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables histone kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables non-membrane spanning protein tyrosine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA damage response	NAS Non-traceable Author Statement more info	PubMed
involved_in chromatin remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromatin remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin remodeling	ISO Inferred from Sequence Orthology more info
involved_in chromatin remodeling	NAS Non-traceable Author Statement more info	PubMed
involved_in chromatin remodeling	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of mitotic chromosome condensation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of mitotic chromosome condensation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase I	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase III	IDA Inferred from Direct Assay more info	PubMed
involved_in post-translational protein modification	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of B-WICH complex	IDA Inferred from Direct Assay more info	PubMed
part_of WICH complex	IBA Inferred from Biological aspect of Ancestor more info
part_of WICH complex	IDA Inferred from Direct Assay more info	PubMed
located_in condensed chromosome	IEA Inferred from Electronic Annotation more info
colocalizes_with nuclear replication fork	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in pericentric heterochromatin	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: tyrosine-protein kinase BAZ1B

Names: hWALp2; transcription factor WSTF; williams syndrome transcription factor; williams-Beuren syndrome chromosomal region 10 protein; williams-Beuren syndrome chromosomal region 9 protein

NP_001357331.1

EC 2.7.10.2

NP_115784.1

EC 2.7.10.2

XP_047276972.1

EC 2.7.10.2

XP_054215278.1

EC 2.7.10.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_027679.1 RefSeqGene

Range

4993..86880

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001370402.1 → NP_001357331.1 tyrosine-protein kinase BAZ1B

Status: REVIEWED

Source sequence(s)

AC005074, AC005089

Consensus CDS

CCDS5549.1

UniProtKB/Swiss-Prot

B9EGK3, D3DXE9, O95039, O95247, O95277, Q6P1K4, Q86UJ6, Q9UIG0

Related

ENSP00000385442.1, ENST00000404251.1

Conserved Domains (7) summary

cd05505
Location:1344 → 1440

Bromo_WSTF_like; Bromodomain; Williams syndrome transcription factor-like subfamily (WSTF-like). The Williams-Beuren syndrome deletion transcript 9 is a putative transcriptional regulator. WSTF was found to play a role in vitamin D-mediated transcription as part of two ...

smart00571
Location:604 → 668

DDT; domain in different transcription and chromosome remodeling factors

cd15628
Location:1186 → 1231

PHD_BAZ1B; PHD finger found in bromodomain adjacent to zinc finger domain protein 1B (BAZ1B)

pfam15613
Location:898 → 1025

WSD; Williams-Beuren syndrome DDT (WSD), D-TOX E motif

pfam10537
Location:21 → 120

WAC_Acf1_DNA_bd; ATP-utilising chromatin assembly and remodelling N-terminal

pfam15612
Location:727 → 767

WHIM1; WSTF, HB1, Itc1p, MBD9 motif 1

pfam17380
Location:664 → 877

DUF5401; Family of unknown function (DUF5401)
NM_032408.4 → NP_115784.1 tyrosine-protein kinase BAZ1B

See identical proteins and their annotated locations for NP_115784.1

Status: REVIEWED

Source sequence(s)

AC005089, AF084479, BC136520, DA739467

Consensus CDS

CCDS5549.1

UniProtKB/Swiss-Prot

B9EGK3, D3DXE9, O95039, O95247, O95277, Q6P1K4, Q86UJ6, Q9UIG0

Related

ENSP00000342434.4, ENST00000339594.9

Conserved Domains (7) summary

cd05505
Location:1344 → 1440

Bromo_WSTF_like; Bromodomain; Williams syndrome transcription factor-like subfamily (WSTF-like). The Williams-Beuren syndrome deletion transcript 9 is a putative transcriptional regulator. WSTF was found to play a role in vitamin D-mediated transcription as part of two ...

smart00571
Location:604 → 668

DDT; domain in different transcription and chromosome remodeling factors

cd15628
Location:1186 → 1231

PHD_BAZ1B; PHD finger found in bromodomain adjacent to zinc finger domain protein 1B (BAZ1B)

pfam15613
Location:898 → 1025

WSD; Williams-Beuren syndrome DDT (WSD), D-TOX E motif

pfam10537
Location:21 → 120

WAC_Acf1_DNA_bd; ATP-utilising chromatin assembly and remodelling N-terminal

pfam15612
Location:727 → 767

WHIM1; WSTF, HB1, Itc1p, MBD9 motif 1

pfam17380
Location:664 → 877

DUF5401; Family of unknown function (DUF5401)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

73440406..73522293 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047421016.1 → XP_047276972.1 tyrosine-protein kinase BAZ1B isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

74640900..74722781 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054359303.1 → XP_054215278.1 tyrosine-protein kinase BAZ1B isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_023005.2: Suppressed sequence

Description

NM_023005.2: This RefSeq was permanently suppressed because currently there is an insufficient support for the 3' UTR of this transcript, and it is a nonsense-mediated decay (NMD) candidate.