InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PATZ1

Summary

InnateDB Gene

IDBG-4572.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PATZ1

Gene Name

POZ (BTB) and AT hook containing zinc finger 1

Synonyms

dJ400N23; MAZR; PATZ; RIAZ; ZBTB19; ZNF278; ZSG

Species

Homo sapiens

Ensembl Gene

ENSG00000100105

Encoded Proteins

IDBP-4574

POZ (BTB) and AT hook containing zinc finger 1

IDBP-4576

POZ (BTB) and AT hook containing zinc finger 1

IDBP-4580

POZ (BTB) and AT hook containing zinc finger 1

IDBP-294355

POZ (BTB) and AT hook containing zinc finger 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 22:31325804-31346232

Strand

Reverse strand

Band

q12.2

Transcripts

ENST00000351933	ENSP00000337520
ENST00000266269	ENSP00000266269
ENST00000215919	ENSP00000215919
ENST00000405309	ENSP00000384173
ENST00000494109
ENST00000465287

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	13 [view]
Protein-Protein	13 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0005515	protein binding
GO:0046872	metal ion binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007283	spermatogenesis
GO:0008584	male gonad development
GO:0010468	regulation of gene expression
GO:0030217	T cell differentiation
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045893	positive regulation of transcription, DNA-templated

Cellular Component

GO:0005634

nucleus

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000020453

View Gene Order

ENSBTAG00000005478

Not yet available

Pathways

NETPATH

NetPath_2

AndrogenReceptor pathway

REACTOME

KEGG

INOH

PID NCI

ar_pathway

Coregulation of Androgen receptor activity

Cross-References

SwissProt

Q9HBE1

TrEMBL

A0A024R1M5 Q9HD72

UniProt Splice Variant

Entrez Gene

23598

UniGene

Hs.581096 Hs.731398

RefSeq

NM_014323 NM_032050 NM_032051 NM_032052

HUGO

HGNC:13071

OMIM

605165

CCDS

CCDS13894 CCDS13895 CCDS13896 CCDS46691

HPRD

05522

IMGT

EMBL

AC005003 AF119256 AF242522 AF254082 AF254083 AF254084 AF254085 AL096880 AY028384 BC021091 CH471095 CR456613

GenPept

AAF01349 AAF32518 AAF99602 AAG09031 AAG09032 AAG09033 AAG09034 AAH21091 AAK19024 CAB51404 CAG30499 EAW59967 EAW59969

RNA Seq Atlas

23598