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    PATZ1 POZ/BTB and AT hook containing zinc finger 1 [ Homo sapiens (human) ]

    Gene ID: 23598, updated on 8-May-2017
    Official Symbol
    PATZ1provided by HGNC
    Official Full Name
    POZ/BTB and AT hook containing zinc finger 1provided by HGNC
    Primary source
    HGNC:HGNC:13071
    See related
    Ensembl:ENSG00000100105 MIM:605165; Vega:OTTHUMG00000151254
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZSG; MAZR; PATZ; RIAZ; ZBTB19; ZNF278; dJ400N23
    Summary
    The protein encoded by this gene contains an A-T hook DNA binding motif which usually binds to other DNA binding structures to play an important role in chromatin modeling and transcription regulation. Its Poz domain is thought to function as a site for protein-protein interaction and is required for transcriptional repression, and the zinc-fingers comprise the DNA binding domain. Since the encoded protein has typical features of a transcription factor, it is postulated to be a repressor of gene expression. In small round cell sarcoma, this gene is fused to EWS by a small inversion of 22q, then the hybrid is thought to be translocated (t(1;22)(p36.1;q12). The rearrangement of chromosome 22 involves intron 8 of EWS and exon 1 of this gene creating a chimeric sequence containing the transactivation domain of EWS fused to zinc finger domain of this protein. This is a distinct example of an intra-chromosomal rearrangement of chromosome 22. Four alternatively spliced transcript variants are described for this gene. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    22q12.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 22 NC_000022.11 (31325804..31346263, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (31721790..31742249, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372997 Neighboring gene RNA, 5S ribosomal pseudogene 496 Neighboring gene PIK3IP1 antisense RNA 1 (head to head) Neighboring gene long intergenic non-protein coding RNA 1521 Neighboring gene RNA, U6 small nuclear 338, pseudogene

    • 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 Jun 15 11:32:44 2016

    Related articles in PubMed

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    male gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription, DNA-templated TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription, DNA-templated TAS
    Traceable Author Statement
    more info
    PubMed 
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    POZ-, AT hook-, and zinc finger-containing protein 1
    Names
    BTB-POZ domain zinc finger transcription factor
    MAZ-related factor
    POZ-AT hook-zinc finger protein
    protein kinase A RI subunit alpha-associated protein
    zinc finger and BTB domain-containing protein 19
    zinc finger protein 278
    zinc finger sarcoma gene protein

    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)

    1. NM_014323.2NP_055138.2  POZ-, AT hook-, and zinc finger-containing protein 1 long C isoform

      See identical proteins and their annotated locations for NP_055138.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (long C isoform).
      Source sequence(s)
      AF119256, AF254085, AL096880
      Consensus CDS
      CCDS13894.1
      UniProtKB/Swiss-Prot
      Q9HBE1
      UniProtKB/TrEMBL
      A0A024R1M5
      Related
      ENSP00000266269.5, OTTHUMP00000199494, ENST00000266269.9, OTTHUMT00000321932
      Conserved Domains (7) summary
      smart00225
      Location:42159
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG4049
      Location:600635
      COG4049; Uncharacterized protein, contains archaeal-type C2H2 Zn-finger [General function prediction only]
      COG5048
      Location:381518
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:357377
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:30157
      BTB; BTB/POZ domain
      pfam13465
      Location:369394
      zf-H2C2_2; Zinc-finger double domain
      pfam16637
      Location:536604
      zf-C2H2_assoc3; Putative zinc-finger between two C2H2 zinc-fingers on Patz
    2. NM_032050.1NP_114439.1  POZ-, AT hook-, and zinc finger-containing protein 1 long A isoform

      See identical proteins and their annotated locations for NP_114439.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate segment in the 3' coding region, compared to variant 1. The resulting protein (long A isoform) maintains the same reading frame and is shorter when compared to the long C isoform.
      Source sequence(s)
      AF119256, AF254083, AL096880
      Consensus CDS
      CCDS13895.1
      UniProtKB/Swiss-Prot
      Q9HBE1
      UniProtKB/TrEMBL
      A0A024R1F8
      Related
      ENSP00000337520.4, OTTHUMP00000199497, ENST00000351933.8, OTTHUMT00000321935
      Conserved Domains (8) summary
      smart00225
      Location:42159
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG4049
      Location:554589
      COG4049; Uncharacterized protein, contains archaeal-type C2H2 Zn-finger [General function prediction only]
      COG5048
      Location:357408
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:357377
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:30157
      BTB; BTB/POZ domain
      pfam13465
      Location:369394
      zf-H2C2_2; Zinc-finger double domain
      pfam13912
      Location:442467
      zf-C2H2_6; C2H2-type zinc finger
      pfam16637
      Location:492558
      zf-C2H2_assoc3; Putative zinc-finger between two C2H2 zinc-fingers on Patz
    3. NM_032051.1NP_114440.1  POZ-, AT hook-, and zinc finger-containing protein 1 short isoform

      See identical proteins and their annotated locations for NP_114440.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and has multiple coding region differences (compared to variant 1), one of which results in a frameshift. This results in a shorter protein (short isoform) with a distinct C-terminus, compared to the long C isoform. This short isoform interacts with RING finger protein 4 through its A-T hook DNA binding domain. It acts as a transcriptional repressor, whereas its partner RING finger protein 4 behaves as a transcriptional activator. Thus the association of this isoform with RING finger protein 4 seems to switch activation to repression.
      Source sequence(s)
      AF119256, AF254082
      Consensus CDS
      CCDS13896.1
      UniProtKB/Swiss-Prot
      Q9HBE1
      Related
      ENSP00000215919.3, OTTHUMP00000199496, ENST00000215919.3, OTTHUMT00000321934
      Conserved Domains (6) summary
      smart00225
      Location:42159
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:357408
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:357377
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:357377
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:30157
      BTB; BTB/POZ domain
      pfam13465
      Location:369394
      zf-H2C2_2; Zinc-finger double domain
    4. NM_032052.1NP_114441.1  POZ-, AT hook-, and zinc finger-containing protein 1 long B isoform

      See identical proteins and their annotated locations for NP_114441.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes the long B isoform which has a shorter and distinct C-terminus compared to the lonc C isoform.
      Source sequence(s)
      AF119256, AF254084, AL096880
      Consensus CDS
      CCDS46691.1
      UniProtKB/Swiss-Prot
      Q9HBE1
      UniProtKB/TrEMBL
      A0A024R1H7
      Related
      ENSP00000384173.3, OTTHUMP00000199495, ENST00000405309.7, OTTHUMT00000321933
      Conserved Domains (7) summary
      smart00225
      Location:42159
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:381451
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:357377
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:357377
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:30157
      BTB; BTB/POZ domain
      pfam13465
      Location:369394
      zf-H2C2_2; Zinc-finger double domain
      pfam13912
      Location:442467
      zf-C2H2_6; C2H2-type zinc finger

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p7 Primary Assembly

      Range
      31325804..31346263 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      31681580..31702037 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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