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

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: mouse all
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Genomic context

Location:: 22q12.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (31325804..31346346, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (31789769..31810306, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (31721790..31742332, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Transcription factor PATZ1 promotes adipogenesis by controlling promoter regulatory loci of adipogenic factors.
Title: Transcription factor PATZ1 promotes adipogenesis by controlling promoter regulatory loci of adipogenic factors.
POZ/BTB and AT hook containing zinc finger 1 (PATZ1) suppresses differentiation and regulates metabolism in human embryonic stem cells.
Title: POZ/BTB and AT hook containing zinc finger 1 (PATZ1) suppresses differentiation and regulates metabolism in human embryonic stem cells.
PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum.
Title: PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum.
Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination.
Title: Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination.
EWSR1-PATZ1-rearranged sarcoma: a report of nine cases of spindle and round cell neoplasms with predilection for thoracoabdominal soft tissues and frequent expression of neural and skeletal muscle markers.
Title: EWSR1-PATZ1-rearranged sarcoma: a report of nine cases of spindle and round cell neoplasms with predilection for thoracoabdominal soft tissues and frequent expression of neural and skeletal muscle markers.
The Transcription Factor MAZR/PATZ1 Regulates the Development of FOXP3(+) Regulatory T Cells.
Title: The Transcription Factor MAZR/PATZ1 Regulates the Development of FOXP3(+) Regulatory T Cells.
It has been shown that PATZ1 is a novel regulator of HIV-1 infection.
Title: PATZ1 is required for efficient HIV-1 infection.
EWSR1-PATZ1 fusion positive spindle and round cell sarcomas show abundant intratumoral fibrosis and polyphenotypic differentiation
Title: Spindle and Round Cell Sarcoma With EWSR1-PATZ1 Gene Fusion: A Sarcoma With Polyphenotypic Differentiation.
The results of IHC and qPCR analyses showed that the expression of PATZ1 in cancerous tissue was significantly lower than that in non-cancerous tissues. Meanwhile, PATZ1 expression was significantly associated with tumor differentiation and LN metastasis.
Title: POZ/BTB and AT-Hook-Containing Zinc Finger Protein 1 (PATZ1) Suppresses Progression of Ovarian Cancer and Serves as an Independent Prognosis Factor.
ZNF278 played a prominent role in the pathogenesis of colorectal cancer (CRC), and promoted CRC cell proliferation via the ERK/MAPK pathway, suggesting that it may act as a potential target in the diagnosis or treatment of CRC
Title: Downregulation of ZNF278 arrests the cell cycle and decreases the proliferation of colorectal cancer cells via inhibition of the ERK/MAPK pathway.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

HSC2NE092 (e-PCR)
- UniSTS:23627

RH26916 (e-PCR)
- UniSTS:88658

RH78526 (e-PCR)
- UniSTS:74336

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

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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)

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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)

NM_014323.3 → NP_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:381 → 518

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:357 → 377

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00019
Location:607 → 628

ZF_C2H2; C2H2 Zn finger [structural motif]

cd18207
Location:14 → 162

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:357 → 377

zf-C2H2; Zinc finger, C2H2 type

pfam16637
Location:536 → 604

zf-C2H2_assoc3; Putative zinc-finger between two C2H2 zinc-fingers on Patz
NM_032050.2 → NP_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:357 → 408

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:357 → 377

ZF_C2H2; C2H2 Zn finger [structural motif]

sd00019
Location:561 → 582

ZF_C2H2; C2H2 Zn finger [structural motif]

cd18207
Location:14 → 162

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:382 → 461

zf-C2H2_8; C2H2-type zinc ribbon

pfam16637
Location:492 → 558

zf-C2H2_assoc3; Putative zinc-finger between two C2H2 zinc-fingers on Patz
NM_032051.2 → NP_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:379 → 436

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

sd00017
Location:357 → 377

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00651
Location:30 → 159

BTB; BTB/POZ domain

pfam13465
Location:369 → 394

zf-H2C2_2; Zinc-finger double domain
NM_032052.2 → NP_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:381 → 451

COG5048; FOG: Zn-finger [General function prediction only]

COG5189
Location:329 → 406

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

sd00017
Location:357 → 377

ZF_C2H2; C2H2 Zn finger [structural motif]

cd18207
Location:14 → 162

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:442 → 467

zf-C2H2_6; C2H2-type zinc finger