Human_Genes_Functions
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Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

PATZ1

PATZ1

protein_coding 22 31,325,804 - 31,346,605 PDO SQLite primary read-only query mode
Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000100105
Gene type
protein_coding
Chromosome
22
Coordinates
31,325,804 - 31,346,605
Strand
-
Status
not available
NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

23598 CCDS13894 CCDS13895 CCDS13896 CCDS46691 ENST00000266269.10 MAZR NM_014323.3 NM_032052 PATZ POZ (BTB) and AT hook containing zinc finger 1 Q9HBE1 RIAZ ZBTB19 ZNF278 ZSG dJ400N23 zinc finger protein 278

Summary

GENCODE gene_type=protein_coding; HGNC symbol=PATZ1; HGNC name=POZ/BTB and AT hook containing zinc finger 1; alias_count=18; RefSeq=NM_032052; UniProt=Q9HBE1; MANE Select=ENST00000266269.10,NM_014323.3

Source: GENCODE + HGNC complete set

23598 • protein-coding

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]

NCBI Gene

UniProt

Q9HBE1 • reviewed

Transcriptional regulator that plays a role in many biological processes such as embryogenesis, senescence, T-cell development or neurogenesis (PubMed:10713105, PubMed:25755280, PubMed:31875552). Interacts with the TP53 protein to control genes that are important in proliferation and in the DNA-damage response. Mechanistically, the interaction inhibits the DNA binding and transcriptional activity of TP53/p53 (PubMed:25755280). Part of the transcriptional network modulating regulatory T-cell development and controls the generation of the regulatory T-cell pool under homeostatic conditions (PubMed:31875552) (Microbial infection) Plays a positive role in viral cDNA synthesis

POZ-, AT hook-, and zinc finger-containing protein 1 · Nucleus

Q9HBE1 • reviewed

Transcriptional regulator that plays a role in many biological processes such as embryogenesis, senescence, T-cell development or neurogenesis (PubMed:10713105, PubMed:25755280, PubMed:31875552). Interacts with the TP53 protein to control genes that are important in proliferation and in the DNA-damage response. Mechanistically, the interaction inhibits the DNA binding and transcriptional activity of TP53/p53 (PubMed:25755280). Part of the transcriptional network modulating regulatory T-cell development and controls the generation of the regulatory T-cell pool under homeostatic conditions (PubMed:31875552) (Microbial infection) Plays a positive role in viral cDNA synthesis

POZ-, AT hook-, and zinc finger-containing protein 1 · Nucleus

Q9HBE1 • reviewed

Transcriptional regulator that plays a role in many biological processes such as embryogenesis, senescence, T-cell development or neurogenesis (PubMed:10713105, PubMed:25755280, PubMed:31875552). Interacts with the TP53 protein to control genes that are important in proliferation and in the DNA-damage response. Mechanistically, the interaction inhibits the DNA binding and transcriptional activity of TP53/p53 (PubMed:25755280). Part of the transcriptional network modulating regulatory T-cell development and controls the generation of the regulatory T-cell pool under homeostatic conditions (PubMed:31875552) (Microbial infection) Plays a positive role in viral cDNA synthesis

POZ-, AT hook-, and zinc finger-containing protein 1 · Nucleus

Q9HBE1 • reviewed

Transcriptional regulator that plays a role in many biological processes such as embryogenesis, senescence, T-cell development or neurogenesis (PubMed:10713105, PubMed:25755280, PubMed:31875552). Interacts with the TP53 protein to control genes that are important in proliferation and in the DNA-damage response. Mechanistically, the interaction inhibits the DNA binding and transcriptional activity of TP53/p53 (PubMed:25755280). Part of the transcriptional network modulating regulatory T-cell development and controls the generation of the regulatory T-cell pool under homeostatic conditions (PubMed:31875552) (Microbial infection) Plays a positive role in viral cDNA synthesis

POZ-, AT hook-, and zinc finger-containing protein 1 · Nucleus

GO annotations

Biological process
  • GO:0045892 negative regulation of DNA-templated transcription (TAS)
  • GO:0010596 negative regulation of endothelial cell migration (IEA)
  • GO:0000122 negative regulation of transcription by RNA polymerase II (IBA)
  • GO:0006355 regulation of DNA-templated transcription (IEA)
  • GO:0006355 regulation of DNA-templated transcription (IEA)
  • GO:0006355 regulation of DNA-templated transcription (TAS)
  • GO:0001817 regulation of cytokine production (IBA)
  • GO:0002682 regulation of immune system process (IBA)
Cellular component
  • GO:0005654 nucleoplasm (IDA)
  • GO:0005654 nucleoplasm (IBA)
  • GO:0005634 nucleus (IEA)
  • GO:0005634 nucleus (IEA)
  • GO:0005634 nucleus (IEA)
  • GO:0005634 nucleus (TAS)
Molecular function
  • GO:0003677 DNA binding (NAS)
  • GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific (IBA)
  • GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding (IEA)
  • GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA)
  • GO:0003682 chromatin binding (IEA)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)

+ 84 more

Representative

Representative transcript
ENST00000215919
Representative protein
ENSP00000215919.3
Representative type
CCDS
Candidate count
5

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=1

Transcript FASTA Protein FASTA

Transcripts

Transcript ID Name Type Status Protein Location
ENST00000266269 PATZ1-202 protein_coding not available ENSP00000266269.5 22:31,325,804 - 31,346,346 -
ENST00000351933 PATZ1-203 protein_coding not available ENSP00000337520.4 22:31,325,804 - 31,346,579 -
ENST00000405309 PATZ1-204 protein_coding not available ENSP00000384173.3 22:31,325,804 - 31,346,579 -
ENST00000930048 PATZ1-207 protein_coding not available ENSP00000600107.1 22:31,325,804 - 31,346,605 -
ENST00000930049 PATZ1-208 protein_coding not available ENSP00000600108.1 22:31,325,804 - 31,346,579 -
ENST00001135483 PATZ1-213 protein_coding not available ENSP00000803840.1 22:31,325,804 - 31,346,579 -
ENST00000930050 PATZ1-209 protein_coding not available ENSP00000600109.1 22:31,325,810 - 31,346,579 -
ENST00000941424 PATZ1-210 protein_coding not available ENSP00000611483.1 22:31,325,810 - 31,346,579 -
ENST00001069189 PATZ1-211 protein_coding not available ENSP00000738995.1 22:31,325,811 - 31,346,579 -
ENST00000494109 PATZ1-206 retained_intron not available not available 22:31,335,418 - 31,343,285 -
ENST00000215919 PATZ1-201 protein_coding not available ENSP00000215919.3 22:31,340,677 - 31,346,579 -
ENST00000465287 PATZ1-205 retained_intron not available not available 22:31,340,677 - 31,343,591 -
ENST00001069190 PATZ1-212 protein_coding not available ENSP00000738996.1 22:31,340,677 - 31,346,579 -

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

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ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.