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Aliases for BAZ1A Gene

Aliases for BAZ1A Gene

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

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. GO annotations related to this gene include histone acetyltransferase activity. An important paralog of this gene is KAT2A.

UniProtKB/Swiss-Prot 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 faciliates 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BAZ1A Gene

Genomics for BAZ1A Gene

Regulatory Elements for BAZ1A Gene

Promoters for BAZ1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BAZ1A on UCSC Golden Path with GeneCards custom track

Genomic Location for BAZ1A Gene

Chromosome:
14
Start:
34,752,731 bp from pter
End:
34,875,647 bp from pter
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.
    Miscellaneous:
    • Stimulated by double-stranded DNA and nucleosomal DNA.
    SequenceCaution:
    • Sequence=AAF28995.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Alternative splice isoforms for BAZ1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BAZ1A Gene

Proteomics data for BAZ1A Gene at MOPED

Post-translational modifications for BAZ1A Gene

  • Ubiquitination at Lys 191 and Lys 570
  • Modification sites at PhosphoSitePlus

Other Protein References for BAZ1A Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BAZ1A (BAZ1A)

No data available for DME Specific Peptides for BAZ1A Gene

Domains & Families for BAZ1A Gene

Gene Families for BAZ1A Gene

Graphical View of Domain Structure for InterPro Entry

Q9NRL2

UniProtKB/Swiss-Prot:

BAZ1A_HUMAN :
  • Contains 1 bromo domain.
  • Belongs to the WAL family.
  • Contains 1 PHD-type zinc finger.
Domain:
  • Contains 1 bromo domain.
  • Contains 1 DDT domain.
  • Contains 1 WAC domain.
Family:
  • Belongs to the WAL family.
Similarity:
  • Contains 1 PHD-type zinc finger.
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 faciliates 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.
genes like me logo Genes that share phenotypes with BAZ1A: view

Animal Models for BAZ1A Gene

MGI Knock Outs for BAZ1A:

Animal Model Products

CRISPR Products

miRNA for BAZ1A Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for BAZ1A Gene COMPARTMENTS Subcellular localization image for BAZ1A gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 2

No data available for Gene Ontology (GO) - Cellular Components for BAZ1A Gene

Pathways & Interactions for BAZ1A Gene

SuperPathways for BAZ1A Gene

No Data Available

Gene Ontology (GO) - Biological Process for BAZ1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006261 DNA-dependent DNA replication IDA 12434153
genes like me logo Genes that share ontologies with BAZ1A: view

No data available for Pathways by source and SIGNOR curated interactions for BAZ1A Gene

Drugs & Compounds for BAZ1A Gene

No Compound Related Data Available

Transcripts for BAZ1A Gene

Unigene Clusters for BAZ1A Gene

Bromodomain adjacent to zinc finger domain, 1A:
Representative Sequences:

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
ECgene alternative splicing isoforms for
BAZ1A

Expression for BAZ1A Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for BAZ1A Gene



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.
genes like me logo Genes that share expression patterns with BAZ1A: view

Protein tissue co-expression partners for BAZ1A Gene

Primer Products

In Situ Assay Products

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 36
  • 100 (a)
OneToOne
BAZ1A 35
  • 99.79 (n)
  • 99.61 (a)
cow
(Bos Taurus)
Mammalia BAZ1A 36
  • 94 (a)
OneToOne
BAZ1A 35
  • 93.1 (n)
  • 93.96 (a)
dog
(Canis familiaris)
Mammalia BAZ1A 35
  • 93.96 (n)
  • 94.99 (a)
BAZ1A 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Baz1a 16
Baz1a 35
  • 86.31 (n)
  • 87.56 (a)
Baz1a 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BAZ1A 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BAZ1A 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Baz1a 35
  • 87.24 (n)
  • 87.63 (a)
chicken
(Gallus gallus)
Aves BAZ1A 35
  • 78.05 (n)
  • 79.26 (a)
BAZ1A 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BAZ1A 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia baz1a 35
  • 65.83 (n)
  • 64.01 (a)
Str.17008 35
zebrafish
(Danio rerio)
Actinopterygii baz1a 36
  • 69 (a)
OneToMany
BAZ1A (2 of 2) 36
  • 53 (a)
OneToMany
-- 35
baz1a 35
  • 66.85 (n)
  • 69.96 (a)
fruit fly
(Drosophila melanogaster)
Insecta Acf1 36
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea athp-2 36
  • 25 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToOne
Species with no ortholog for BAZ1A:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for BAZ1A Gene

Paralogs for BAZ1A Gene

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

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

Variants for BAZ1A Gene

Sequence variations from dbSNP and Humsavar for BAZ1A Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1133285 - 34,800,320(-) AAAAA(A/T)AAAAA nc-transcript-variant, reference, missense
rs1044140 - 34,761,902(+) AATAA(A/T)ACACC intron-variant, reference, missense
rs761924 -- 34,864,077(+) ttcag(C/T)ctccc intron-variant
rs15796 -- 34,800,365(+) TTTTC(C/T)CTTTT nc-transcript-variant, reference, synonymous-codon
rs1054406 -- 34,801,135(-) TAAAG(A/G)AAGAG nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv1238 CNV Insertion 18451855
nsv517328 CNV Loss 19592680
nsv523492 CNV Loss 19592680
esv268455 CNV Insertion 20981092
esv2661600 CNV Deletion 23128226
esv2667232 CNV Deletion 23128226
esv2506134 CNV Deletion 19546169
esv2382959 CNV Deletion 18987734
esv4428 CNV Deletion 18987735
esv2748588 CNV Deletion 23290073
nsv85433 CNV Loss 16902084
esv2441860 CNV Deletion 19546169
esv6430 CNV Loss 19470904
nsv85205 CNV Loss 16902084
nsv483012 CNV Complex 15286789
dgv369n67 CNV Gain 20364138
esv1006744 CNV Loss 20482838

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)

Relevant External Links for BAZ1A Gene

HapMap Linkage Disequilibrium report
BAZ1A

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

Disorders for BAZ1A Gene

Relevant External Links for BAZ1A

Genetic Association Database (GAD)
BAZ1A
Human Genome Epidemiology (HuGE) Navigator
BAZ1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BAZ1A

No disorders were found for BAZ1A Gene.

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

Publications for BAZ1A Gene

  1. A novel family of bromodomain genes. (PMID: 10662543) Jones M.H. … Shimane M. (Genomics 2000) 2 3 4 67
  2. Novel regulatory role for human Acf1 in transcriptional repression of vitamin D3 receptor-regulated genes. (PMID: 17519354) Ewing A.K. … Chakravarti D. (Mol. Endocrinol. 2007) 3 23
  3. Human ACF1 alters the remodeling strategy of SNF2h. (PMID: 16877760) He X. … Kingston R.E. (J. Biol. Chem. 2006) 3 23
  4. An ACF1-ISWI chromatin-remodeling complex is required for DNA replication through heterochromatin. (PMID: 12434153) Collins N. … Varga-Weisz P.D. (Nat. Genet. 2002) 3 23
  5. Purification and characterization of a human factor that assembles and remodels chromatin. (PMID: 10747848) LeRoy G. … Reinberg D. (J. Biol. Chem. 2000) 3 23

Products for BAZ1A Gene

Sources for BAZ1A Gene

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