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

    Gene ID: 23598, updated on 10-Mar-2024

    Summary

    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; AllianceGenome:HGNC:13071
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 10.3), thyroid (RPKM 10.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PATZ1 in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (31325804..31346346, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (31789769..31810306, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (31721790..31742332, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372997 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18856 Neighboring gene RNA, 5S ribosomal pseudogene 496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31724965-31725649 Neighboring gene PIK3IP1 divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:31734465-31734965 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31736003-31736977 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31738653-31739190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31739191-31739729 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:31739730-31740267 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13629 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13630 Neighboring gene long intergenic non-protein coding RNA 1521 Neighboring gene RNA, U6 small nuclear 338, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in T cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in male gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA-templated transcription TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of endothelial cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA-templated transcription TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cytokine production IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of immune system process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in male germ cell nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    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)

    1. NM_014323.3NP_055138.2  POZ-, AT hook-, and zinc finger-containing protein 1 isoform long C

      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)
      AC005003, AF119256, AF254085, AL096880
      Consensus CDS
      CCDS13894.1
      UniProtKB/Swiss-Prot
      Q9HBE1, Q9HBE2, Q9HBE3, Q9P1A9, Q9UDU0, Q9Y529
      UniProtKB/TrEMBL
      Q59HH1
      Related
      ENSP00000266269.5, ENST00000266269.10
      Conserved Domains (6) summary
      COG5048
      Location:381518
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:357377
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:607628
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18207
      Location:14162
      BTB_POZ_ZBTB19_PATZ1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in POZ-, AT hook-, and zinc finger-containing protein 1 (PATZ1)
      pfam00096
      Location:357377
      zf-C2H2; Zinc finger, C2H2 type
      pfam16637
      Location:536604
      zf-C2H2_assoc3; Putative zinc-finger between two C2H2 zinc-fingers on Patz
    2. NM_032050.2NP_114439.1  POZ-, AT hook-, and zinc finger-containing protein 1 isoform long A

      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)
      AC005003, AF119256, AF254083, AL096880
      Consensus CDS
      CCDS13895.1
      UniProtKB/TrEMBL
      Q59HH1
      Related
      ENSP00000337520.4, ENST00000351933.8
      Conserved Domains (6) summary
      COG5048
      Location:357408
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:357377
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:561582
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18207
      Location:14162
      BTB_POZ_ZBTB19_PATZ1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in POZ-, AT hook-, and zinc finger-containing protein 1 (PATZ1)
      pfam15909
      Location:382461
      zf-C2H2_8; C2H2-type zinc ribbon
      pfam16637
      Location:492558
      zf-C2H2_assoc3; Putative zinc-finger between two C2H2 zinc-fingers on Patz
    3. NM_032051.2NP_114440.1  POZ-, AT hook-, and zinc finger-containing protein 1 isoform short

      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)
      AC005003, AF119256, AF254082
      Consensus CDS
      CCDS13896.1
      UniProtKB/TrEMBL
      A8K6Y8
      Related
      ENSP00000215919.3, ENST00000215919.3
      Conserved Domains (4) summary
      COG5189
      Location:379436
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:357377
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:30159
      BTB; BTB/POZ domain
      pfam13465
      Location:369394
      zf-H2C2_2; Zinc-finger double domain
    4. NM_032052.2NP_114441.1  POZ-, AT hook-, and zinc finger-containing protein 1 isoform long B

      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)
      AC005003, AF119256, AF254084, AL096880
      Consensus CDS
      CCDS46691.1
      UniProtKB/TrEMBL
      A8K6Y8
      Related
      ENSP00000384173.3, ENST00000405309.7
      Conserved Domains (5) summary
      COG5048
      Location:381451
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:329406
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:357377
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18207
      Location:14162
      BTB_POZ_ZBTB19_PATZ1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in POZ-, AT hook-, and zinc finger-containing protein 1 (PATZ1)
      pfam13912
      Location:442467
      zf-C2H2_6; C2H2-type zinc finger

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      31325804..31346346 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      31789769..31810306 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)