PATZ1

Protein identityUniProt · HPA

UniProt accession

Q9HBE1

Gene

PATZ1

Ensembl

ENSG00000100105

Chromosome

22

Canonical length

687 aa

Protein class

Cancer-related genes, Disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

687 residues, UniProt reviewed canonical sequence.

>Q9HBE1|PATZ1
     1  MERVNDASCG PSGCYTYQVS RHSTEMLHNL NQQRKNGGRF CDVLLRVGDE SFPAHRAVLA
    61  ACSEYFESVF SAQLGDGGAA DGGPADVGGA TAAPGGGAGG SRELEMHTIS SKVFGDILDF
   121  AYTSRIVVRL ESFPELMTAA KFLLMRSVIE ICQEVIKQSN VQILVPPARA DIMLFRPPGT
   181  SDLGFPLDMT NGAALAANSN GIAGSMQPEE EAARAAGAAI AGQASLPVLP GVDRLPMVAG
   241  PLSPQLLTSP FPSVASSAPP LTGKRGRGRP RKANLLDSMF GSPGGLREAG ILPCGLCGKV
   301  FTDANRLRQH EAQHGVTSLQ LGYIDLPPPR LGENGLPISE DPDGPRKRSR TRKQVACEIC
   361  GKIFRDVYHL NRHKLSHSGE KPYSCPVCGL RFKRKDRMSY HVRSHDGSVG KPYICQSCGK
   421  GFSRPDHLNG HIKQVHTSER PHKCQTCNAS FATRDRLRSH LACHEDKVPC QVCGKYLRAA
   481  YMADHLKKHS EGPSNFCSIC NRGFSSASYL KVHVKTHHGV PLPQVSRHQE PILNGGAAFH
   541  CARTYGNKEG QKCSHQDPIE SSDSYGDLSD ASDLKTPEKQ SANGSFSCDM AVPKNKMESD
   601  GEKKYPCPEC GSFFRSKSYL NKHIQKVHVR ALGGPLGDLG PALGSPFSPQ QNMSLLESFG
   661  FQIVQSAFAS SLVDPEVDQQ PMGPEGK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PATZ1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.54

Highest tissue expression

24 nTPM

Expression across tissuesHPA

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.23

gnomAD pLI

1

gnomAD missense Z

3.11

DepMap mean gene effect

-0.13

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• male gonad development
• negative regulation of DNA-templated transcription
• negative regulation of endothelial cell migration
• negative regulation of transcription by RNA polymerase II
• positive regulation of DNA-templated transcription
• regulation of cytokine production
• regulation of DNA-templated transcription
• regulation of immune system process
• spermatogenesis
• T cell differentiation

Molecular functions

• chromatin binding
• DNA binding
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• ubiquitin protein ligase binding
• zinc ion binding

Cellular components

• male germ cell nucleus
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• BTB/POZ domain
• HMG-I/HMG-Y, DNA-binding, conserved site
• SKP1/BTB/POZ domain superfamily
• Zinc finger C2H2-type
• Zinc finger C2H2 superfamily
• Zinc finger, C2H2 type
• BTB/POZ domain
• C2H2-type zinc finger
• Putative zinc-finger between two C2H2 zinc-fingers on Patz

KeywordsUniProt

• Chromosomal rearrangement
• DNA-binding
• Isopeptide bond
• Metal-binding
• Nucleus
• Phosphoprotein
• Proto-oncogene
• Repeat
• Repressor
• Transcription
• Transcription regulation
• Ubl conjugation
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of PATZ1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RNF4