POGZ (original) (raw)

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Protein-coding gene in the species Homo sapiens

POGZ
Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes2E72, 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]Band1q21.3Start151,402,724 bp[1]End151,459,494 bp[1]
Gene location (Mouse)Chr.Chromosome 3 (mouse)[2]Band3|3 F2.1Start94,744,878 bp[2]End94,789,637 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inright uterine tuberight hemisphere of cerebellumbuccal mucosa cellsural nerveleft ovarypituitary glandright ovaryanterior pituitaryganglionic eminenceright lobe of thyroid glandTop expressed intail of embryoGonadal ridgegenital tubercleotic vesiclehandRostral migratory streamcumulus cellciliary bodyprimitive streakirisMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular 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
OrthologsSpeciesHuman MouseEntrez23126229584EnsemblENSG00000143442ENSMUSG00000038902UniProtQ7Z3K3Q8BZH4RefSeq (mRNA)NM_001194937NM_001194938NM_015100NM_145796NM_207171NM_001165948NM_172683NM_001368811NM_001368812RefSeq (protein)NP_001181866NP_001181867NP_055915NP_665739NP_997054NP_001159420NP_766271NP_001355740NP_001355741Location (UCSC)Chr 1: 151.4 – 151.46 MbChr 3: 94.74 – 94.79 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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]

Clinical significance

[edit]

Heterozygous mutation of POGZ causes White-Sutton syndrome.[7]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000143442 – Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038902 – Ensembl, May 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ Gunther M, Laithier M, Brison O (Dec 2000). "A set of proteins interacting with transcription factor Sp1 identified in a two-hybrid screening". Mol Cell Biochem. 210 (1–2): 131–42. doi:10.1023/A:1007177623283. PMID 10976766. S2CID 1339642.
6. ^ a b "Entrez Gene: POGZ pogo transposable element with ZNF domain".
7. ^ "OMIM Entry- # 616364 - WHITE-SUTTON SYNDROME; WHSUS". www.omim.org. Retrieved 2018-11-23.

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