POGZ

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

POGZ
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2E72, 2N3A
Identifiers
Aliases	POGZ, ZNF280E, ZNF635, ZNF635m, MRD37, WHSUS, pogo transposable element with ZNF domain, pogo transposable element derived with ZNF domain
External IDs	OMIM: 614787; MGI: 2442117; HomoloGene: 9022; GeneCards: POGZ; OMA:POGZ - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q21.3 Start 151,402,724 bp[1] End 151,459,494 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 F2.1 Start 94,744,878 bp[2] End 94,789,637 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube right hemisphere of cerebellum buccal mucosa cell sural nerve left ovary pituitary gland right ovary anterior pituitary ganglionic eminence right lobe of thyroid gland Top expressed in tail of embryo Gonadal ridge genital tubercle otic vesicle hand Rostral migratory stream cumulus cell ciliary body primitive streak iris More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleic acid binding DNA binding protein binding metal ion binding DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II core promoter sequence-specific DNA binding Cellular component cytoplasm chromosome nucleus nucleoplasm cytosol histone methyltransferase complex Biological process kinetochore assembly cell cycle mitotic sister chromatid cohesion cell division regulation of transcription by RNA polymerase II regulation of gene expression Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23126 229584 Ensembl ENSG00000143442 ENSMUSG00000038902 UniProt Q7Z3K3 Q8BZH4 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 Mb Chr 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]