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BAZ1A Gene

protein-coding   GIFtS: 56
GCID: GC14M035221

Bromodomain Adjacent To Zinc Finger Domain, 1A

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Bromodomain Adjacent To Zinc Finger Domain, 1A1 2     CHRAC Subunit ACF12 3
Williams Syndrome Transcription Factor-Related Chromatin-Remodeling Factor
1802 3
     hACF12 3
ACF12 3     hWALp12 3
WCRF1802 3     WALp12
ATP-Dependent Chromatin-Remodeling Protein2 3     ATP-Dependent Chromatin Remodeling Protein2
ATP-Utilizing Chromatin Assembly And Remodeling Factor 12 3     Bromodomain Adjacent To Zinc Finger Domain Protein 1A2

External Ids:    HGNC: 9601   Entrez Gene: 111772   Ensembl: ENSG000001986047   OMIM: 6056805   UniProtKB: Q9NRL23   

Export aliases for BAZ1A gene to outside databases

Previous GC identifers: GC14M032600 GC14M029009 GC14M033211 GC14M034291 GC14M015335


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 oxyphilic adenoma, and williams-beuren syndrome. GO annotations related to this gene include histone acetyltransferase activity. An important paralog of this gene is BPTF.

UniProtKB/Swiss-Prot: BAZ1A_HUMAN, Q9NRL2
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
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

Gene Wiki entry for BAZ1A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the BAZ1A gene promoter:
         Nkx3-1   Max1   NF-1   NF-1/L   Nkx3-1 v1   Nkx3-1 v2   HFH-1   Nkx3-1 v3   Chx10   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBAZ1A promoter sequence
   Search Chromatin IP Primers for BAZ1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BAZ1A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q13.2   Ensembl cytogenetic band:  14q13.2   HGNC cytogenetic band: 14q13.2

BAZ1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BAZ1A gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M035221:  view genomic region     (about GC identifiers)

Start:
35,221,937 bp from pter      End:
35,344,853 bp from pter
Size:
122,917 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: BAZ1A_HUMAN, Q9NRL2 (See protein sequence)
Recommended Name: Bromodomain adjacent to zinc finger domain protein 1A  
Size: 1556 amino acids; 178702 Da
Subunit: 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
Sequence caution: Sequence=AAF28995.1; Type=Frameshift; Positions=Several;
Secondary accessions: Q9NZ15 Q9P065 Q9UIG1 Q9Y3V3
Alternative splicing: 2 isoforms:  Q9NRL2-1   Q9NRL2-2   

Explore the universe of human proteins at neXtProt for BAZ1A: NX_Q9NRL2

Explore proteomics data for BAZ1A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys191, Lys570, Lys973
  • Modification sites at PhosphoSitePlus

  • See BAZ1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_038476.2  NP_872589.1  

    ENSEMBL proteins: 
     ENSP00000351555   ENSP00000371859   ENSP00000450902   ENSP00000450923   ENSP00000451896  
     ENSP00000353458  

    BAZ1A Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PHF: Zinc fingers, PHD-type

    Selected InterPro protein domains (see all 12):
     IPR001841 Znf_RING
     IPR001965 Znf_PHD
     IPR018501 DDT_dom_superfamily
     IPR013083 Znf_RING/FYVE/PHD
     IPR013136 WSTF_Acf1_Cbp146

    Graphical View of Domain Structure for InterPro Entry Q9NRL2

    ProtoNet protein and cluster: Q9NRL2

    4 Blocks protein domains:
    IPB001487 Bromodomain signature
    IPB001841 Zn-finger
    IPB001965 Zn-finger-like
    IPB004022 DDT domain


    UniProtKB/Swiss-Prot: BAZ1A_HUMAN, Q9NRL2
    Similarity: Belongs to the WAL family
    Similarity: Contains 1 bromo domain
    Similarity: Contains 1 DDT domain
    Similarity: Contains 1 PHD-type zinc finger
    Similarity: Contains 1 WAC domain


    BAZ1A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BAZ1A_HUMAN, Q9NRL2
    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
    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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004402NOT histone acetyltransferase activity TAS10662543
    GO:0005515protein binding IPI17500595
    GO:0008270zinc ion binding IEA--
         
    BAZ1A for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Baz1a (no phenotypes)

    BAZ1A for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BAZ1A
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    miRNA
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    miRTarBase miRNAs that target BAZ1A:
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    Block miRNA regulation of human, mouse, rat BAZ1A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BAZ1A (see all 29):
    hsa-miR-142-3p hsa-miR-3685 hsa-miR-3607-3p hsa-miR-520f hsa-miR-137 hsa-miR-323b-3p hsa-miR-1278 hsa-miR-301a
    SwitchGear 3'UTR luciferase reporter plasmidBAZ1A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BAZ1A

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BAZ1A_HUMAN, Q9NRL2: Nucleus. Note=May target the CHRAC complex to heterochromatin
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    endoplasmic reticulum1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000228nuclear chromosome IEA--
    GO:0008623CHRAC IDA10880450
    GO:0016590ACF complex TAS10662543

    BAZ1A for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BAZ1A About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for BAZ1A
        Chromatin Regulation / Acetylation



    BAZ1A for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including BAZ1A: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BAZ1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BAZ1A (Q9NRL22, 3 ENSP000003534584) via UniProtKB, MINT, STRING, and/or I2D (see all 841)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCOR1O753762, 3, ENSP000002687124MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000268712
    SMAD2Q157962, 3, ENSP000002621604MINT-61581 I2D: score=3 STRING: ENSP00000262160
    SMAD9O151982, 3, ENSP000003691544MINT-62127 I2D: score=3 STRING: ENSP00000369154
    SMARCA2P515312, 3, ENSP000002657734MINT-7945693 I2D: score=1 STRING: ENSP00000265773
    SMARCA5O602642, 3, ENSP000002831314MINT-7945693 MINT-7947479 I2D: score=5 STRING: ENSP00000283131
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006261DNA-dependent DNA replication IDA12434153
    GO:0006338chromatin remodeling TAS10662543
    GO:0006351transcription, DNA-templated NAS10662543
    GO:0006355regulation of transcription, DNA-templated NAS10662543

    BAZ1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BAZ1A



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BAZ1A gene (2 alternative transcripts): 
    NM_013448.2  NM_182648.1  

    Unigene Cluster for BAZ1A:

    Bromodomain adjacent to zinc finger domain, 1A
    Hs.509140  [show with all ESTs]
    Unigene Representative Sequence: NM_013448
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000358716(uc001wsl.3) ENST00000382422(uc001wsm.1) ENST00000555331
    ENST00000557739 ENST00000554865 ENST00000554391 ENST00000556314 ENST00000555273
    ENST00000553385 ENST00000553573 ENST00000553853 ENST00000360310(uc001wsk.3)

    miRNA
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    Block miRNA regulation of human, mouse, rat BAZ1A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BAZ1A (see all 29):
    hsa-miR-142-3p hsa-miR-3685 hsa-miR-3607-3p hsa-miR-520f hsa-miR-137 hsa-miR-323b-3p hsa-miR-1278 hsa-miR-301a
    SwitchGear 3'UTR luciferase reporter plasmidBAZ1A 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): BAZ1A (NM_013448)
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      QuantiTect SYBR Green Assays in human, mouse, rat BAZ1A
      QuantiFast Probe-based Assays in human, mouse, rat BAZ1A

    Additional mRNA sequence: 

    AB032252.1 AB209255.1 AB593178.1 AF086397.1 AF161435.1 AF213467.1 AF221130.1 AK027289.1 
    AL050089.1 BC020636.1 BC108711.1 

    15 DOTS entries:

    DT.444907  DT.91743031  DT.95328855  DT.120773158  DT.75100898  DT.91840417  DT.95304272  DT.40132314 
    DT.75109887  DT.91743026  DT.91959950  DT.97779116  DT.99945045  DT.91882901  DT.92021579 

    Selected AceView cDNA sequences (see all 222):

    H80325 AA806351 AI217570 AW662610 CA424022 AA608519 BG940031 BG186513 
    CA417674 BP357990 NM_182648 AA102574 BU628858 AA312947 AL046822 W73958 
    AL040399 BU160773 BU156442 AL704928 BQ011387 BM459343 CB321611 CB217757 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BAZ1A (see all 6)    About this scheme

    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:                                                                                                                                                            

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


    ECgene alternative splicing isoforms for BAZ1A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BAZ1A expression in normal human tissues (normalized intensities)      BAZ1A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATGAATCCA
    BAZ1A Expression
    About this image


    BAZ1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    BAZ1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BAZ1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.509140

    UniProtKB/Swiss-Prot: BAZ1A_HUMAN, Q9NRL2
    Tissue specificity: Highly expressed in testis and at low or undetectable levels in other tissues analyzed

        Pathway & Disease-focused RT2 Profiler PCR Array including BAZ1A: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BAZ1A
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    QuantiFast Probe-based Assays in human, mouse, rat BAZ1A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAZ1A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for BAZ1A gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Baz1a1 , 5 bromodomain adjacent to zinc finger domain 1A1, 5 86.31(n)1
    87.56(a)1
      12 (23.84 cM)5
    2175781  NM_013815.21  NP_038843.21 
     548935515 
    chicken
    (Gallus gallus)
    Aves BAZ1A1 bromodomain adjacent to zinc finger domain, 1A 78.05(n)
    79.26(a)
      428884  XM_426440.3  XP_426440.3 
    lizard
    (Anolis carolinensis)
    Reptilia BAZ1A6
    bromodomain adjacent to zinc finger domain, 1A
    71(a)
    1 ↔ 1
    2(54656802-54714281)
    African clawed frog
    (Xenopus laevis)
    Amphibia AF412332.12   -- 73.41(n)    AF412332.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570655582   -- 74.85(n)   324003  57065558 
    fruit fly
    (Drosophila melanogaster)
    Insecta Acf16
    ATP-dependent chromatin assembly factor large subu...
    27(a)
    1 ↔ 1
    3R(27619811-27625533)
    worm
    (Caenorhabditis elegans)
    Secernentea athp-26
    Protein ATHP-2 (athp-2) mRNA, complete cds
    25(a)
    1 ↔ 1
    II(4340151-4350984) WBGene00019217


    ENSEMBL Gene Tree for BAZ1A (if available)
    TreeFam Gene Tree for BAZ1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BAZ1A gene
    BPTF2  BAZ2B2  CECR22  BAZ2A2  BAZ1B2  KAT2A2  KAT2B2  
    1 SIMAP similar gene for BAZ1A using alignment to 7 protein entries:     BAZ1A_HUMAN (see all proteins):
    BRDT

    BAZ1A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BAZ1A (see all 2635)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs354498551,2
    C--15407895(+) AAAAA-/A/AA  
            
    GAGGG
    2 -- int11NA 2
    rs1419708081,2
    --15459678(+) TTTGGC/TATCAT 2 -- us2k10--------
    rs1463810251,2
    --15459729(+) TGAGAA/TTAAAA 2 -- us2k10--------
    rs37595501,2
    C--15459783(-) AGTCCC/TATGTT 2 -- us2k1 tfbs30--------
    rs726787871,2
    --15459793(+) TTTGTG/TTAAAA 2 -- us2k10--------
    rs38345111,2
    C--15459890(-) AATGT-/TTAA  
            
    TTAAA
    2 -- us2k1 tfbs30--------
    rs3732306181,2
    C--15459891(+) CAATT-/TTAA  
            
    TAAAC
    2 -- us2k10--------
    rs1894956641,2
    --15459966(+) TAAATC/GTATCC 2 -- us2k10--------
    rs759270551,2
    C--15460048(+) TCCTGA/GTGATC 2 -- us2k10--------
    rs786584651,2
    C--15460049(+) CCTGAA/TGATCA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for BAZ1A (35221937 - 35344853 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for BAZ1A (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667232CNV Deletion23128226
    esv2382959CNV Deletion18987734
    esv2661600CNV Deletion23128226
    esv2748588CNV Deletion23290073
    esv2441860CNV Deletion19546169
    esv4428CNV Deletion18987735
    esv2506134CNV Deletion19546169
    nsv1238CNV Insertion18451855
    esv268455CNV Insertion20981092
    nsv85205CNV Loss16902084

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BAZ1A
    DNA2.0 Custom Variant and Variant Library Synthesis for BAZ1A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605680    OMIM disorders: --

    5 diseases for BAZ1A:    About MalaCards
    oxyphilic adenoma    williams-beuren syndrome    adenoma    mental retardation
    malaria


    BAZ1A for disorders           About GeneDecksing

    Genetic Association Database (GAD): BAZ1A
    Human Genome Epidemiology (HuGE) Navigator: BAZ1A (1 document)

    Export disorders for BAZ1A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BAZ1A gene, integrated from 10 sources (see all 52):
    (articles sorted by number of sources associating them with BAZ1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel family of bromodomain genes. (PubMed id 10662543)1, 2, 3 Jones M.H.... Shimane M. (Genomics 2000)
    2. Novel regulatory role for human Acf1 in transcriptional repression of vitamin D3 receptor-regulated genes. (PubMed id 17519354)1, 2, 9 Ewing A.K.... Chakravarti D. (Mol. Endocrinol. 2007)
    3. An ACF1-ISWI chromatin-remodeling complex is required for DNA replication through heterochromatin. (PubMed id 12434153)1, 2, 9 Collins N....Varga-Weisz P.D. (Nat. Genet. 2002)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    6. The histone-fold protein complex CHRAC-15/17 enhances nucleosome sliding and assembly mediated by ACF. (PubMed id 14759371)1, 2 Kukimoto I....Varga-Weisz P.D. (Mol. Cell 2004)
    7. HuCHRAC, a human ISWI chromatin remodelling complex contains hACF1 and two novel histone-fold proteins. (PubMed id 10880450)1, 2 Poot R.A.... Varga-Weisz P.D. (EMBO J. 2000)
    8. A family of chromatin remodeling factors related to Williams syndrome transcription factor. (PubMed id 10655480)1, 2 Bochar D.A....Shiekhattar R. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    9. Human ACF1 alters the remodeling strategy of SNF2h. (PubMed id 16877760)1, 9 He X....Kingston R.E. (J. Biol. Chem. 2006)
    10. Purification and characterization of a human factor that assembles and remodels chromatin. (PubMed id 10747848)1, 9 LeRoy G....Reinberg D. (J. Biol. Chem. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 11177 HGNC: 960 AceView: BAZ1A Ensembl:ENSG00000198604 euGenes: HUgn11177
    ECgene: BAZ1A H-InvDB: BAZ1A

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for BAZ1A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BAZ1A gene:
    Search GeneIP for patents involving BAZ1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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