Format

Send to:

Choose Destination

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

Gene ID: 23598, updated on 6-Jan-2019

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
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

Genomic context

See PATZ1 in Genome Data Viewer
Location:
22q12.2
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II proximal promoter 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
 
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 by RNA polymerase II 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
 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 
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)

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 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)
    AC005003, AF119256, AF254085, AL096880
    Consensus CDS
    CCDS13894.1
    UniProtKB/Swiss-Prot
    Q9HBE1
    UniProtKB/TrEMBL
    A0A024R1M5
    Related
    ENSP00000266269.5, ENST00000266269.9
    Conserved Domains (4) summary
    COG5048
    Location:381518
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:357377
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:30159
    BTB; BTB/POZ 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, ENST00000351933.8
    Conserved Domains (6) 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
    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, 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_032052.1NP_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, ENST00000405309.7
    Conserved Domains (6) 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]
    pfam00651
    Location:30159
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

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