BAZ1A bromodomain adjacent to zinc finger domain 1A [Homo sapiens (human)] - Gene

Summary

Official Symbol: BAZ1Aprovided by HGNC
Official Full Name: bromodomain adjacent to zinc finger domain 1Aprovided by HGNC
Primary source: HGNC:HGNC:960
See related: Ensembl:ENSG00000198604 MIM:605680; AllianceGenome:HGNC:960
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ACF1; WALp1; hACF1; WCRF180
Summary: The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010]
Expression: Broad expression in testis (RPKM 18.1), bone marrow (RPKM 15.8) and 24 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 14q13.1-q13.2

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (34752731..34875360, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (28951901..29074526, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (35221937..35344566, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: 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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

African American Prostate Cancer Displays Quantitatively Distinct Vitamin D Receptor Cistrome-transcriptome Relationships Regulated by BAZ1A.
Title: African American Prostate Cancer Displays Quantitatively Distinct Vitamin D Receptor Cistrome-transcriptome Relationships Regulated by BAZ1A.
results revealed chromatin remodeling modulator BAZ1A acting as a novel regulator of cellular senescence in both normal and cancer cells, indicating a new target for potential cancer treatment
Title: Chromatin remodeling factor BAZ1A regulates cellular senescence in both cancer and normal cells.
Results from the study on gene variability in early stage embryos identifies BAZ1A as a putative variability marker of the 8-cell embryo stage.
Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
Results from the study suggest that acute cocaine exposure increased Baz1a expression in nucleus accumbens while repeated cocaine exposure produced the opposite effect. Findings implicate BAZ1A in molecular and behavioral plasticity to cocaine and offer new insight into the pathophysiology of cocaine addiction.
Title: Regulation of BAZ1A and nucleosome positioning in the nucleus accumbens in response to cocaine.
promotes recovery after DNA damage, in part by recruiting SMARCA5 to damaged chromatin
Title: Non-canonical reader modules of BAZ1A promote recovery from DNA damage.
Study reports de novo mutation in BAZ1A, in a patient with a syndromic form of intellectual disability (ID). This mutation affects the expression of genes involved in several biological pathways such as vitamin D regulation, Wnt signaling, and postsynaptic signaling. Data point to an important role for BAZ1A in neurodevelopment, and highlight a possible link for BAZ1A to ID.
Title: A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment.
CHD3.1 and ACF1-SNF2H display counteractive activities but similar histone affinities.
Title: Opposing ISWI- and CHD-class chromatin remodeling activities orchestrate heterochromatic DNA repair.
ISWI proteins Snf2H, Snf2L as well as Acf1 accumulate at UV-induced DNA damage sites within tens of seconds and reach a plateau after a few minutes.
Title: Binding kinetics of human ISWI chromatin-remodelers to DNA repair sites elucidate their target location mechanism.
hACF1-containing factors are more generally involved in the DNA damage response.
Title: Role for hACF1 in the G2/M damage checkpoint.
The ACF1 and its complexes play important roles in DNA double-strand breaks (DSBs) repair.
Title: The ACF1 complex is required for DNA double-strand break repair in human cells.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction	Pubs
Knockdown of bromodomain adjacent to zinc finger domain, 1A (BAZ1A) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH44609 (e-PCR)
- UniSTS:13591

G36258 (e-PCR)
- UniSTS:17704

RH98236 (e-PCR)
- UniSTS:85345

RH104107 (e-PCR)
- UniSTS:98432

G35901 (e-PCR)
- UniSTS:56301

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info
NOT enables histone acetyltransferase activity	TAS Traceable Author Statement more info	PubMed
enables metal ion binding	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-templated DNA replication	IDA Inferred from Direct Assay more info	PubMed
involved_in chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in chromatin remodeling	TAS Traceable Author Statement more info	PubMed
involved_in nucleosome assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA replication	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of heterochromatin formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of ACF complex	IPI Inferred from Physical Interaction more info	PubMed
part_of ACF complex	TAS Traceable Author Statement more info	PubMed
part_of CHRAC	IBA Inferred from Biological aspect of Ancestor more info
part_of CHRAC	IDA Inferred from Direct Assay more info	PubMed
part_of CHRAC	NAS Non-traceable Author Statement more info	PubMed
is_active_in nuclear chromosome	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in pericentric heterochromatin	EXP Inferred from Experiment more info	PubMed
located_in pericentric heterochromatin	ISO Inferred from Sequence Orthology more info

General protein information

Go to the top of the page Help

Preferred Names: bromodomain adjacent to zinc finger domain protein 1A

Names: ATP-dependent chromatin remodeling protein; ATP-utilizing chromatin assembly and remodeling factor 1; CHRAC subunit ACF1; hWALp1; williams syndrome transcription factor-related chromatin-remodeling factor 180

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_013448.3 → NP_038476.2 bromodomain adjacent to zinc finger domain protein 1A isoform a

See identical proteins and their annotated locations for NP_038476.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AB032252, AF213467, AF221130, AL050089, CB217757

Consensus CDS

CCDS9651.1

UniProtKB/Swiss-Prot

Q9NRL2, Q9NZ15, Q9P065, Q9UIG1, Q9Y3V3

Related

ENSP00000353458.1, ENST00000360310.6

Conserved Domains (7) summary

cd05504
Location:1423 → 1535

Bromo_Acf1_like; Bromodomain; Acf1_like or BAZ1A_like subfamily. Bromo adjacent to zinc finger 1A (BAZ1A) was identified as a novel human bromodomain gene by cDNA library screening. The Drosophila homologue, Acf1, is part of the CHRAC (chromatin accessibility complex) ...

smart00571
Location:422 → 485

DDT; domain in different transcription and chromosome remodeling factors

cd15627
Location:1150 → 1195

PHD_BAZ1A; PHD finger found in bromodomain adjacent to zinc finger domain protein 1A (BAZ1A)

pfam10537
Location:23 → 122

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

pfam15612
Location:590 → 635

WHIM1; WSTF, HB1, Itc1p, MBD9 motif 1

pfam15613
Location:800 → 926

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

cl26511
Location:645 → 788

Neuromodulin_N; Gap junction protein N-terminal region
NM_182648.2 → NP_872589.1 bromodomain adjacent to zinc finger domain protein 1A isoform b

See identical proteins and their annotated locations for NP_872589.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AB032252, AF213467, AF221130, AL050089, CB217757

Consensus CDS

CCDS41943.1

Related

ENSP00000351555.4, ENST00000358716.8

Conserved Domains (8) summary

cd05504
Location:1391 → 1503

Bromo_Acf1_like; Bromodomain; Acf1_like or BAZ1A_like subfamily. Bromo adjacent to zinc finger 1A (BAZ1A) was identified as a novel human bromodomain gene by cDNA library screening. The Drosophila homologue, Acf1, is part of the CHRAC (chromatin accessibility complex) ...

smart00571
Location:422 → 485

DDT; domain in different transcription and chromosome remodeling factors

cd15627
Location:1118 → 1163

PHD_BAZ1A; PHD finger found in bromodomain adjacent to zinc finger domain protein 1A (BAZ1A)

pfam10537
Location:23 → 122

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

pfam15612
Location:560 → 608

WHIM1; WSTF, HB1, Itc1p, MBD9 motif 1

pfam15614
Location:860 → 898

WHIM3; WSTF, HB1, Itc1p, MBD9 motif 3

cd16269
Location:682 → 693

GBP_C; coiled coil [structural motif]

cl20817
Location:617 → 695

GBP_C; Guanylate-binding protein, C-terminal domain

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_000014.9 Reference GRCh38.p14 Primary Assembly

Range

34752731..34875360 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047430887.1 → XP_047286843.1 bromodomain adjacent to zinc finger domain protein 1A isoform X2
XM_024449460.2 → XP_024305228.1 bromodomain adjacent to zinc finger domain protein 1A isoform X1

UniProtKB/Swiss-Prot

Q9NRL2, Q9NZ15, Q9P065, Q9UIG1, Q9Y3V3

Conserved Domains (7) summary

cd05504
Location:1423 → 1535

Bromo_Acf1_like; Bromodomain; Acf1_like or BAZ1A_like subfamily. Bromo adjacent to zinc finger 1A (BAZ1A) was identified as a novel human bromodomain gene by cDNA library screening. The Drosophila homologue, Acf1, is part of the CHRAC (chromatin accessibility complex) ...

smart00571
Location:422 → 485

DDT; domain in different transcription and chromosome remodeling factors

cd15627
Location:1150 → 1195

PHD_BAZ1A; PHD finger found in bromodomain adjacent to zinc finger domain protein 1A (BAZ1A)

pfam10537
Location:23 → 122

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

pfam15612
Location:590 → 635

WHIM1; WSTF, HB1, Itc1p, MBD9 motif 1

pfam15613
Location:800 → 926

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

cl26511
Location:645 → 788

Neuromodulin_N; Gap junction protein N-terminal region
XM_047430889.1 → XP_047286845.1 bromodomain adjacent to zinc finger domain protein 1A isoform X4
XM_047430888.1 → XP_047286844.1 bromodomain adjacent to zinc finger domain protein 1A isoform X3
XM_011536376.4 → XP_011534678.3 bromodomain adjacent to zinc finger domain protein 1A isoform X5

UniProtKB/TrEMBL

Q59G54

Conserved Domains (5) summary

cd05504
Location:1019 → 1131

Bromo_Acf1_like; Bromodomain; Acf1_like or BAZ1A_like subfamily. Bromo adjacent to zinc finger 1A (BAZ1A) was identified as a novel human bromodomain gene by cDNA library screening. The Drosophila homologue, Acf1, is part of the CHRAC (chromatin accessibility complex) ...

cd15627
Location:746 → 791

PHD_BAZ1A; PHD finger found in bromodomain adjacent to zinc finger domain protein 1A (BAZ1A)

pfam15612
Location:186 → 231

WHIM1; WSTF, HB1, Itc1p, MBD9 motif 1

pfam15613
Location:396 → 522

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

cl26511
Location:241 → 384

Neuromodulin_N; Gap junction protein N-terminal region

RNA

XR_007063978.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

28951901..29074526 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054375297.1 → XP_054231272.1 bromodomain adjacent to zinc finger domain protein 1A isoform X2
XM_054375296.1 → XP_054231271.1 bromodomain adjacent to zinc finger domain protein 1A isoform X1

UniProtKB/Swiss-Prot

Q9NRL2, Q9NZ15, Q9P065, Q9UIG1, Q9Y3V3
XM_054375299.1 → XP_054231274.1 bromodomain adjacent to zinc finger domain protein 1A isoform X4
XM_054375298.1 → XP_054231273.1 bromodomain adjacent to zinc finger domain protein 1A isoform X3
XM_054375300.1 → XP_054231275.1 bromodomain adjacent to zinc finger domain protein 1A isoform X5