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] See more...

Aliases for BAZ1A Gene

Aliases for BAZ1A Gene

  • Bromodomain Adjacent To Zinc Finger Domain 1A 2 3 5
  • WCRF180 2 3 4
  • HACF1 2 3 4
  • ACF1 2 3 4
  • Williams Syndrome Transcription Factor-Related Chromatin-Remodeling Factor 180 3 4
  • ATP-Utilizing Chromatin Assembly And Remodeling Factor 1 3 4
  • Bromodomain Adjacent To Zinc Finger Domain Protein 1A 3 4
  • CHRAC Subunit ACF1 3 4
  • HWALp1 3 4
  • WALp1 2 3
  • ATP-Dependent Chromatin Remodeling Protein 3
  • ATP-Dependent Chromatin-Remodeling Protein 4
  • BAZ1A 5

External Ids for BAZ1A Gene

Previous GeneCards Identifiers for BAZ1A Gene

  • GC14M032600
  • GC14M029009
  • GC14M033211
  • GC14M034291
  • GC14M035221
  • GC14M015335

Summaries for BAZ1A Gene

Entrez Gene Summary for BAZ1A Gene

  • 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]

GeneCards Summary for BAZ1A Gene

BAZ1A (Bromodomain Adjacent To Zinc Finger Domain 1A) is a Protein Coding gene. Diseases associated with BAZ1A include Chromosome 14Q11-Q22 Deletion Syndrome and Vater/Vacterl Association. Among its related pathways are Chromatin Regulation / Acetylation and Ectoderm Differentiation. Gene Ontology (GO) annotations related to this gene include histone acetyltransferase activity. An important paralog of this gene is BAZ2B.

UniProtKB/Swiss-Prot Summary for BAZ1A Gene

  • Component of the ACF complex, an ATP-dependent chromatin remodeling complex, that regulates spacing of nucleosomes using ATP to generate evenly spaced nucleosomes along the chromatin. The ATPase activity of the complex is regulated by the length of flanking DNA. Also involved in facilitating the DNA replication process. BAZ1A is the accessory, non-catalytic subunit of the complex which can enhance and direct the process provided by the ATPase subunit, SMARCA5, probably through targeting pericentromeric heterochromatin in late S phase. Moves end-positioned nucleosomes to a predominantly central position. May have a role in nuclear receptor-mediated transcription repression.
  • Component of the histone-fold protein complex CHRAC complex which facilitates nucleosome sliding by the ACF complex and enhances ACF-mediated chromatin assembly. The C-terminal regions of both CHRAC1 and POLE1 are required for these functions.

Gene Wiki entry for BAZ1A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BAZ1A Gene

Genomics for BAZ1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BAZ1A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BAZ1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BAZ1A

Top Transcription factor binding sites by QIAGEN in the BAZ1A gene promoter:
  • c-Myc
  • Chx10
  • HFH-1
  • Max1
  • NF-1
  • NF-1/L
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3

Genomic Locations for BAZ1A Gene

Latest Assembly
chr14:34,752,731-34,875,647
(GRCh38/hg38)
Size:
122,917 bases
Orientation:
Minus strand

Previous Assembly
chr14:35,221,937-35,344,566
(GRCh37/hg19 by Entrez Gene)
Size:
122,630 bases
Orientation:
Minus strand

chr14:35,221,937-35,344,853
(GRCh37/hg19 by Ensembl)
Size:
122,917 bases
Orientation:
Minus strand

Genomic View for BAZ1A Gene

Genes around BAZ1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BAZ1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BAZ1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BAZ1A Gene

Proteins for BAZ1A Gene

  • Protein details for BAZ1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRL2-BAZ1A_HUMAN
    Recommended name:
    Bromodomain adjacent to zinc finger domain protein 1A
    Protein Accession:
    Q9NRL2
    Secondary Accessions:
    • Q9NZ15
    • Q9P065
    • Q9UIG1
    • Q9Y3V3

    Protein attributes for BAZ1A Gene

    Size:
    1556 amino acids
    Molecular mass:
    178702 Da
    Quaternary structure:
    • Component of the ACF chromatin remodeling complex that includes BAZ1A and SMARCA5. Additional this complex can form, together with CHRAC1 and POLE1, the histone-fold protein complex, CHRAC. Interacts with NCOR1 (via its RD1 domain); the interaction corepresses a number of NCOR1-regulated genes.
    SequenceCaution:
    • Sequence=AAF28995.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • Stimulated by double-stranded DNA and nucleosomal DNA.

    Three dimensional structures from OCA and Proteopedia for BAZ1A Gene

    Alternative splice isoforms for BAZ1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BAZ1A Gene

Post-translational modifications for BAZ1A Gene

  • Ubiquitination at Lys191 and Lys570
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BAZ1A Gene

Domains & Families for BAZ1A Gene

Gene Families for BAZ1A Gene

Protein Domains for BAZ1A Gene

InterPro:
Blocks:
  • Zn-finger, RING
  • Zn-finger-like, PHD finger
  • Bromodomain signature
  • DDT domain
ProtoNet:

Suggested Antigen Peptide Sequences for BAZ1A Gene

GenScript: Design optimal peptide antigens:
  • hWALp1 (BAZ1A_HUMAN)
  • Bromodomain adjacent to zinc finger domain, 1A, isoform CRA_c (D3DS96_HUMAN)
  • BAZ1A protein (Q05CW0_HUMAN)
  • BAZ1A protein (Q32ND1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NRL2

UniProtKB/Swiss-Prot:

BAZ1A_HUMAN :
  • Belongs to the WAL family.
Family:
  • Belongs to the WAL family.
genes like me logo Genes that share domains with BAZ1A: view

Function for BAZ1A Gene

Molecular function for BAZ1A Gene

UniProtKB/Swiss-Prot Function:
Component of the ACF complex, an ATP-dependent chromatin remodeling complex, that regulates spacing of nucleosomes using ATP to generate evenly spaced nucleosomes along the chromatin. The ATPase activity of the complex is regulated by the length of flanking DNA. Also involved in facilitating the DNA replication process. BAZ1A is the accessory, non-catalytic subunit of the complex which can enhance and direct the process provided by the ATPase subunit, SMARCA5, probably through targeting pericentromeric heterochromatin in late S phase. Moves end-positioned nucleosomes to a predominantly central position. May have a role in nuclear receptor-mediated transcription repression.
UniProtKB/Swiss-Prot Function:
Component of the histone-fold protein complex CHRAC complex which facilitates nucleosome sliding by the ACF complex and enhances ACF-mediated chromatin assembly. The C-terminal regions of both CHRAC1 and POLE1 are required for these functions.

Phenotypes From GWAS Catalog for BAZ1A Gene

Gene Ontology (GO) - Molecular Function for BAZ1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004402 NOT histone acetyltransferase activity TAS 10662543
GO:0005515 protein binding IPI 10655480
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with BAZ1A: view
genes like me logo Genes that share phenotypes with BAZ1A: view

Animal Models for BAZ1A Gene

MGI Knock Outs for BAZ1A:
  • Baz1a Baz1a<tm1.1Sky>
  • Baz1a Baz1a<tm1b(EUCOMM)Hmgu>

miRNA for BAZ1A Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BAZ1A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BAZ1A Gene

Localization for BAZ1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for BAZ1A Gene

Nucleus. Note=May target the CHRAC complex to heterochromatin.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BAZ1A gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BAZ1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome IEA --
GO:0005634 nucleus IEA --
GO:0008623 CHRAC IDA 10880450
GO:0016590 ACF complex TAS 10662543
genes like me logo Genes that share ontologies with BAZ1A: view

Pathways & Interactions for BAZ1A Gene

genes like me logo Genes that share pathways with BAZ1A: view

Pathways by source for BAZ1A Gene

1 BioSystems pathway for BAZ1A Gene
1 Cell Signaling Technology pathway for BAZ1A Gene

Gene Ontology (GO) - Biological Process for BAZ1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006261 DNA-dependent DNA replication IDA 12434153
GO:0006338 chromatin remodeling TAS 10662543
GO:0006357 regulation of transcription by RNA polymerase II NAS 10662543
GO:0016573 histone acetylation IEA --
genes like me logo Genes that share ontologies with BAZ1A: view

No data available for SIGNOR curated interactions for BAZ1A Gene

Drugs & Compounds for BAZ1A Gene

No Compound Related Data Available

Transcripts for BAZ1A Gene

mRNA/cDNA for BAZ1A Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BAZ1A

Alternative Splicing Database (ASD) splice patterns (SP) for BAZ1A Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: - - -
SP2: - - -
SP3:
SP4: -
SP5:
SP6:

ExUns: 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27a · 27b · 27c
SP1:
SP2:
SP3: -
SP4:
SP5:
SP6:

Relevant External Links for BAZ1A Gene

GeneLoc Exon Structure for
BAZ1A

Expression for BAZ1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BAZ1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BAZ1A Gene

This gene is overexpressed in Whole Blood (x7.9).

Protein differential expression in normal tissues from HIPED for BAZ1A Gene

This gene is overexpressed in Stomach (23.6), Serum (23.0), and Fetal gut (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BAZ1A Gene



Protein tissue co-expression partners for BAZ1A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BAZ1A

SOURCE GeneReport for Unigene cluster for BAZ1A Gene:

Hs.509140

mRNA Expression by UniProt/SwissProt for BAZ1A Gene:

Q9NRL2-BAZ1A_HUMAN
Tissue specificity: Highly expressed in testis and at low or undetectable levels in other tissues analyzed.

Evidence on tissue expression from TISSUES for BAZ1A Gene

  • Blood(4.4)
  • Lung(2.3)
  • Skin(2.2)
  • Heart(2.1)
  • Nervous system(2)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with BAZ1A: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BAZ1A Gene

Orthologs for BAZ1A Gene

This gene was present in the common ancestor of animals.

Orthologs for BAZ1A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BAZ1A 30 31
  • 99.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BAZ1A 30 31
  • 93.96 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BAZ1A 30 31
  • 93.1 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Baz1a 30
  • 87.24 (n)
Mouse
(Mus musculus)
Mammalia Baz1a 30 17 31
  • 86.31 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BAZ1A 31
  • 84 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BAZ1A 31
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BAZ1A 30 31
  • 78.05 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BAZ1A 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia baz1a 30
  • 65.83 (n)
Str.17008 30
Zebrafish
(Danio rerio)
Actinopterygii baz1a 30 31
  • 66.85 (n)
OneToMany
BAZ1A (2 of 2) 31
  • 53 (a)
OneToMany
-- 30
Fruit Fly
(Drosophila melanogaster)
Insecta Acf1 31
  • 27 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea athp-2 31
  • 25 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
OneToOne
Species where no ortholog for BAZ1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for BAZ1A Gene

ENSEMBL:
Gene Tree for BAZ1A (if available)
TreeFam:
Gene Tree for BAZ1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BAZ1A: view image

Paralogs for BAZ1A Gene

Paralogs for BAZ1A Gene

(1) SIMAP similar genes for BAZ1A Gene using alignment to 7 proteins:

  • BAZ1A_HUMAN
  • D3DS96_HUMAN
  • H0YJ68_HUMAN
  • H0YJ74_HUMAN
  • H0YJP5_HUMAN
  • Q05CW0_HUMAN
  • Q32ND1_HUMAN
genes like me logo Genes that share paralogs with BAZ1A: view

Variants for BAZ1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BAZ1A Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs115527378 Benign: not provided 34,773,673(-) C/T
NM_013448.3(BAZ1A):c.3051G>A (p.Leu1017=)
SYNONYMOUS
rs35654708 Benign: not provided 34,776,126(-) G/A
NM_013448.3(BAZ1A):c.2626C>T (p.Arg876Cys)
MISSENSE
rs776556963 Pathogenic: VATER/VACTERL association with CNS malformations 34,771,534(-) C/T
NM_013448.3(BAZ1A):c.3278G>A (p.Arg1093Gln)
MISSENSE
rs1044140 - p.Asn1366Lys
rs1133285 - p.Asp344Glu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BAZ1A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for BAZ1A Gene

Variant ID Type Subtype PubMed ID
dgv1867n100 CNV gain 25217958
dgv369n67 CNV gain 20364138
esv1006744 CNV loss 20482838
esv2382959 CNV deletion 18987734
esv2441860 CNV deletion 19546169
esv2506134 CNV deletion 19546169
esv2661600 CNV deletion 23128226
esv2667232 CNV deletion 23128226
esv2748588 CNV deletion 23290073
esv3430499 CNV insertion 20981092
esv3551368 CNV deletion 23714750
esv3584237 CNV gain 25503493
esv3634040 CNV loss 21293372
esv3634041 CNV loss 21293372
esv4428 CNV loss 18987735
esv6430 CNV loss 19470904
nsv1041857 CNV gain 25217958
nsv1051540 CNV gain 25217958
nsv1070215 CNV deletion 25765185
nsv1134367 CNV deletion 24896259
nsv1150039 CNV deletion 26484159
nsv1238 CNV insertion 18451855
nsv483012 CNV gain+loss 15286789
nsv517328 CNV loss 19592680
nsv523492 CNV loss 19592680
nsv564200 CNV gain 21841781
nsv85205 CNV deletion 16902084
nsv85433 CNV deletion 16902084
nsv957519 CNV deletion 24416366

Variation tolerance for BAZ1A Gene

Residual Variation Intolerance Score: 1.97% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.07; 68.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BAZ1A Gene

Human Gene Mutation Database (HGMD)
BAZ1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BAZ1A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAZ1A Gene

Disorders for BAZ1A Gene

MalaCards: The human disease database

(8) MalaCards diseases for BAZ1A Gene - From: COP and GCD

Disorder Aliases PubMed IDs
chromosome 14q11-q22 deletion syndrome
  • 14q11.2 microdeletion syndrome
vater/vacterl association
  • vacterl/vater association
schimke immunoosseous dysplasia
  • siod
vacterl association
  • vater syndrome
baraitser-winter syndrome
  • brws
- elite association - COSMIC cancer census association via MalaCards
Search BAZ1A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BAZ1A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with BAZ1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BAZ1A Gene

Publications for BAZ1A Gene

  1. Novel regulatory role for human Acf1 in transcriptional repression of vitamin D3 receptor-regulated genes. (PMID: 17519354) Ewing AK … Chakravarti D (Molecular endocrinology (Baltimore, Md.) 2007) 3 4 23
  2. An ACF1-ISWI chromatin-remodeling complex is required for DNA replication through heterochromatin. (PMID: 12434153) Collins N … Varga-Weisz PD (Nature genetics 2002) 3 4 23
  3. A novel family of bromodomain genes. (PMID: 10662543) Jones MH … Shimane M (Genomics 2000) 2 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4

Products for BAZ1A Gene

Sources for BAZ1A Gene