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POGZ

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Pogo transposable element with ZNF domain is a protein that in humans is encoded by the POGZ gene.[5][6]

AliasesPOGZ, ZNF280E, ZNF635, ZNF635m, MRD37, WHSUS, pogo transposable element with ZNF domain, pogo transposable element derived with ZNF domain
External IDsOMIM: 614787; MGI: 2442117; GeneCards: POGZ
PDBOrtholog search: PDBe RCSB
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POGZ
Identifiers
AliasesPOGZ, ZNF280E, ZNF635, ZNF635m, MRD37, WHSUS, pogo transposable element with ZNF domain, pogo transposable element derived with ZNF domain
External IDsOMIM: 614787; MGI: 2442117; GeneCards: POGZ
Available structures
PDBOrtholog search: PDBe RCSB
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001194937
NM_001194938
NM_015100
NM_145796
NM_207171

NM_001165948
NM_172683
NM_001368811
NM_001368812

RefSeq (protein)

NP_001181866
NP_001181867
NP_055915
NP_665739
NP_997054

NP_001159420
NP_766271
NP_001355740
NP_001355741

Location (UCSC)Chr 1: 151.4 – 151.46 MbChr 3: 94.74 – 94.79 Mb
PubMed search[3][4]
Wikidata
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The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus.

This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. At least three alternatively spliced transcript variants encoding distinct isoforms have been observed.[6]

The CHAMP1 protein complex consisting of CHAMP1, POGZ and HPIα promotes heterochromatin assembly at multiple chromosomal sites, and also promotes homology-directed DNA repair of DNA double-strand breaks in these regions.[7]

Clinical significance

Heterozygous mutation of POGZ causes White-Sutton syndrome.[8]

References

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