Patz1 POZ (BTB) and AT hook containing zinc finger 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Patz1provided by MGI
Official Full Name: POZ (BTB) and AT hook containing zinc finger 1provided by MGI
Primary source: MGI:MGI:1891832
See related: Ensembl:ENSMUSG00000020453 AllianceGenome:MGI:1891832
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Mazr; Patz; Zfp278; 8430401L15Rik
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and chromatin binding activity. Involved in negative regulation of endothelial cell migration and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including T cell differentiation; male gonad development; and spermatogenesis. Located in nucleus. Is expressed in several structures, including alimentary system; genitourinary system; limb bud; nervous system; and sensory organ. Orthologous to human PATZ1 (POZ/BTB and AT hook containing zinc finger 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in thymus adult (RPKM 44.7), ovary adult (RPKM 21.8) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 A1; 11 2.3 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (3239131..3259083)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (3289131..3309083)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Complex Interplay Between MAZR and Runx3 Regulates the Generation of Cytotoxic T Lymphocyte and Memory T Cells.
Title: Complex Interplay Between MAZR and Runx3 Regulates the Generation of Cytotoxic T Lymphocyte and Memory T Cells.
Structural analysis of the PATZ1 BTB domain homodimer.
Title: Structural analysis of the PATZ1 BTB domain homodimer.
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.
MAZR is an essential transcription factor regulating iNKT cell subset differentiation and effector function.
Title: The zinc-finger transcription factor MAZR regulates iNKT cell subset differentiation.
endothelial PATZ1 thus potently inhibits endothelial function and angiogenesis via inhibition of FABP4 expression, and abnormal induction of endothelial PATZ1 may contribute to multiple aspects of vascular dysfunction in diabetes
Title: Hyperglycemia-induced PATZ1 negatively modulates endothelial vasculogenesis via repression of FABP4 signaling.
Together, these results suggest a novel mechanism regulating endothelial PATZ1 expression based on the down-regulation of miR-24 expression caused by hyperglycemia. Interfering with PATZ1 expression via miRNAs or miRNA mimics could potentially represent a new way to target endothelial PATZ1-dependent signaling of vascular dysfunction in diabetes.
Title: miR-24 suppression of POZ/BTB and AT-hook-containing zinc finger protein 1 (PATZ1) protects endothelial cell from diabetic damage.
the repression of ThPOK during CD8 lineage differentiation is mediated by the synergistic activity of the transcription factor MAZR and Runx/CBFbeta complexes.
Title: MAZR and Runx Factors Synergistically Repress ThPOK during CD8+ T Cell Lineage Development.
Results show that PATZ1 binds to p53 and inhibits p53-dependent transcription activation.
Title: PATZ1 Is a DNA Damage-Responsive Transcription Factor That Inhibits p53 Function.
The data support a PATZ1 tumour-suppressive function based on its ability to enhance p53-dependent transcription and apoptosis.
Title: PATZ1 interacts with p53 and regulates expression of p53-target genes enhancing apoptosis or cell survival based on the cellular context.
analysis of embryos in which Patz1 was disrupted revealed the presence of severe defects in the CNS and in the cardiac outflow tract, which eventually lead to a pre-mature in utero death during late gestation or soon after birth
Title: Embryonic defects and growth alteration in mice with homozygous disruption of the Patz1 gene.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (5) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI447519 (e-PCR)
- UniSTS:160056

Patz1 (e-PCR), detects polymorphism
- UniSTS:547284

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay 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 RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
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	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within T cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within male gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of DNA-templated transcription	IPI Inferred from Physical Interaction more info	PubMed
involved_in regulation of cytokine production	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of immune system process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in male germ cell nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: POZ (BTB) and AT hook-containing zinc finger 1

Names: BTB/POZ domain zinc finger transcription factor; POZ-, AT hook-, and zinc finger-containing protein 1; POZ-AT hook-zinc finger protein; protein kinase A RI subunit alpha-associated protein; transcription factor (MAZ-related) MAZR; zinc finger and BTB domain-containing protein 19; zinc finger protein 278

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_001253690.1 → NP_001240619.1 POZ (BTB) and AT hook-containing zinc finger 1 isoform 2

See identical proteins and their annotated locations for NP_001240619.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) includes an additional exon that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.

Source sequence(s)

AL671968, BC043035

Consensus CDS

CCDS56754.1

UniProtKB/TrEMBL

Q5NBZ1, Q5NBZ2

Related

ENSMUSP00000091103.6, ENSMUST00000093402.12

Conserved Domains (6) 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)

pfam13465
Location:369 → 394

zf-H2C2_2; Zinc-finger double domain

pfam13912
Location:442 → 467

zf-C2H2_6; C2H2-type zinc finger
NM_001253691.1 → NP_001240620.1 POZ (BTB) and AT hook-containing zinc finger 1 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (5) includes an additional exon that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (3) has a distinct and shorter C-terminus, compared to isoform 1.

Source sequence(s)

AL671968, BC043035, CA327687

UniProtKB/TrEMBL

Q5NBZ2

Related

ENSMUSP00000092043.4, ENSMUST00000094471.10

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_019574.3 → NP_062520.1 POZ (BTB) and AT hook-containing zinc finger 1 isoform 1

See identical proteins and their annotated locations for NP_062520.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AL671968

Consensus CDS

CCDS24356.1

UniProtKB/TrEMBL

Q80XS2, Q9JMG9

Related

ENSMUSP00000050684.7, ENSMUST00000057089.13

Conserved Domains (6) 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

pfam13912
Location:442 → 467

zf-C2H2_6; C2H2-type zinc finger

pfam16637
Location:492 → 558

zf-C2H2_assoc3; Putative zinc-finger between two C2H2 zinc-fingers on Patz

RNA

NR_045108.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate 5' exon and includes two additional internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, as found in variant 1.

Source sequence(s)

AL671968, BC043035, CJ106364

Related

ENSMUST00000134089.8
NR_045109.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, as found in variant 1.

Source sequence(s)

AK018372, BC043035, CJ106364

Related

ENSMUST00000101644.10