Baz1b bromodomain adjacent to zinc finger domain, 1B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Baz1bprovided by MGI
Official Full Name: bromodomain adjacent to zinc finger domain, 1Bprovided by MGI
Primary source: MGI:MGI:1353499
See related: Ensembl:ENSMUSG00000002748 AllianceGenome:MGI:1353499
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: WSTF; Wbscr9
Summary: Enables histone binding activity. Involved in chromatin remodeling. Acts upstream of or within chromatin organization. Located in condensed chromosome; nucleus; and pericentric heterochromatin. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; lung; and retina. Used to study Williams-Beuren syndrome. Orthologous to human BAZ1B (bromodomain adjacent to zinc finger domain 1B). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 36.9), limb E14.5 (RPKM 19.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 G2; 5 75.05 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (135214094..135274985)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (135187323..135246131)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of Baz1b in mice causes perinatal lethality, growth failure, and variable multi-system outcomes.
Title: Loss of Baz1b in mice causes perinatal lethality, growth failure, and variable multi-system outcomes.
Baz1b Dosage Influences Cardiovascular Function, Predisposing to Dilated Cardiomyopathy.
Title: Baz1b Dosage Influences Cardiovascular Function, Predisposing to Dilated Cardiomyopathy.
BAZ1B, a component of chromatin remodeling complexes, in the nucleus accumbens regulates reward-related behaviors in response to chronic exposure to both rewarding and aversive stimuli
Title: BAZ1B in Nucleus Accumbens Regulates Reward-Related Behaviors in Response to Distinct Emotional Stimuli.
WSTF phosphorylates Tyr 142 of H2A.X, and that WSTF activity has an important role in regulating several events that are critical for the DNA damage response
Title: WSTF regulates the H2A.X DNA damage response via a novel tyrosine kinase activity.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (3)
Gene trapped (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

25.MMHAP4FLA4.seq (e-PCR)
- UniSTS:123686

C87820 (e-PCR)
- UniSTS:179286

Baz1b (e-PCR), detects polymorphism
- UniSTS:144766

Baz1b (e-PCR), detects polymorphism
- UniSTS:230787

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables histone H2AXY142 kinase activity	ISO Inferred from Sequence Orthology more info
enables histone H2AXY142 kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables histone H3Y41 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables histone binding	IPI Inferred from Physical Interaction more info	PubMed
enables histone kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation 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

Process	Evidence Code	Pubs
involved_in DNA damage response	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA damage response	ISO Inferred from Sequence Orthology more info
involved_in DNA damage response	ISS Inferred from Sequence or Structural Similarity more info
involved_in DNA damage response	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within chromatin organization	IDA Inferred from Direct Assay more info	PubMed
involved_in chromatin remodeling	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in chromatin remodeling	IDA Inferred from Direct Assay 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 negative regulation of mitotic chromosome condensation	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
involved_in post-translational protein modification	ISO Inferred from Sequence Orthology more info
involved_in post-translational protein modification	ISS Inferred from Sequence or Structural Similarity more info

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

General protein information

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Preferred Names: tyrosine-protein kinase BAZ1B

Names: Williams-Beuren syndrome chromosome region 9 homolog; bromodomain adjacent to zinc finger domain protein 1B; bromodomain adjacent to zinc finger domain, 1B; Williams-Beuren syndrome chromosome region 9 homolog; williams syndrome transcription factor homolog; williams-Beuren syndrome chromosomal region 9 protein homolog

NP_035844.2

EC 2.7.10.2

XP_011239182.1

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.

mRNA and Protein(s)

NM_011714.2 → NP_035844.2 tyrosine-protein kinase BAZ1B

See identical proteins and their annotated locations for NP_035844.2

Status: VALIDATED

Source sequence(s)

AF084480, AK017894, AK037737, BF463363, BM114461

Consensus CDS

CCDS19736.1

UniProtKB/Swiss-Prot

B9EJ99, Q3URP5, Q3USR7, Q3UVM2, Q8CAU9, Q9CU68, Q9Z277

Related

ENSMUSP00000002825.6, ENSMUST00000002825.6

Conserved Domains (7) summary

cd05505
Location:1340 → 1436

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:605 → 669

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)

pfam10537
Location:21 → 120

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

pfam15612
Location:725 → 770

WHIM1; WSTF, HB1, Itc1p, MBD9 motif 1

pfam15613
Location:900 → 928

WHIM2; WSTF, HB1, Itc1p, MBD9 motif 2

pfam15614
Location:991 → 1029

WHIM3; WSTF, HB1, Itc1p, MBD9 motif 3

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

135214094..135274985

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011240880.3 → XP_011239182.1 tyrosine-protein kinase BAZ1B isoform X1

UniProtKB/Swiss-Prot

Q9Z277

Conserved Domains (6) summary

cd05505
Location:1042 → 1138

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:307 → 371

DDT; domain in different transcription and chromosome remodeling factors

cd15628
Location:888 → 933

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

pfam15612
Location:430 → 470

WHIM1; WSTF, HB1, Itc1p, MBD9 motif 1

pfam15613
Location:601 → 727

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

pfam17380
Location:466 → 564

DUF5401; Family of unknown function (DUF5401)