POGZ

Protein-coding gene in the species Homo sapiens
POGZ
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2E72, 2N3A

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; HomoloGene: 9022; GeneCards: POGZ; OMA:POGZ - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for POGZ
Genomic location for POGZ
Band1q21.3Start151,402,724 bp[1]
End151,459,494 bp[1]
Gene location (Mouse)
Chromosome 3 (mouse)
Chr.Chromosome 3 (mouse)[2]
Chromosome 3 (mouse)
Genomic location for POGZ
Genomic location for POGZ
Band3|3 F2.1Start94,744,878 bp[2]
End94,789,637 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 3: 94.74 – 94.79 Mb
PubMed 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

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

References

  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.

Further reading

  • Ohira M, Morohashi A, Nakamura Y, et al. (2003). "Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma". Cancer Lett. 197 (1–2): 63–8. doi:10.1016/S0304-3835(03)00085-5. PMID 12880961.
  • Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
  • Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
  • Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
  • Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
  • Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
  • Seki N, Ohira M, Nagase T, et al. (1998). "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain". DNA Res. 4 (5): 345–9. doi:10.1093/dnares/4.5.345. PMID 9455484.


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