ZMYND8

Protein kinase C-binding protein 1 is an enzyme that in humans is encoded by the ZMYND8 gene.[5]

ZMYND8
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
AliasesZMYND8, PRKCBP1, PRO2893, RACK7, zinc finger MYND-type containing 8
External IDsOMIM: 615713 MGI: 1918025 HomoloGene: 32679 GeneCards: ZMYND8
Gene location (Human)
Chr.Chromosome 20 (human)[1]
Band20q13.12Start47,209,214 bp[1]
End47,356,889 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

23613

228880

Ensembl

ENSG00000101040

ENSMUSG00000039671

UniProt

Q9ULU4

n/a

RefSeq (mRNA)
RefSeq (protein)

n/a

Location (UCSC)Chr 20: 47.21 – 47.36 MbChr 2: 165.78 – 165.9 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The protein encoded by this gene is a receptor for activated C-kinase (RACK) protein. The encoded protein has been shown to bind in vitro to activated protein kinase C beta I. In addition, this protein is a cutaneous T-cell lymphoma-associated antigen. Finally, the protein contains a bromodomain and two zinc fingers, and is thought to be a transcriptional regulator. Multiple transcript variants encoding several different isoforms have been found for this gene.[5]

Model organisms

Model organisms have been used in the study of ZMYND8 function. A conditional knockout mouse line, called Zmynd8tm1a(EUCOMM)Wtsi[8][9] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[10][11][12]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[6][13] Twenty one tests were carried out on mutant mice and two significant abnormalities were observed.[6] Few homozygous mutant embryos were identified during gestation and none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; no additional significant abnormalities were observed in these animals.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000101040 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000039671 - 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. "Entrez Gene: ZMYND8 zinc finger, MYND-type containing 8".
  6. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
  7. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  8. "International Knockout Mouse Consortium".
  9. "Mouse Genome Informatics".
  10. Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  11. Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  12. Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
  13. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading

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