ZMYND8

ZMYND8
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 4COS
Identifiers
Aliases	ZMYND8 , PRKCBP1, PRO2893, RACK7, zinc finger MYND-type containing 8
External IDs	OMIM: 615713 MGI: 1918025 HomoloGene: 32679 GeneCards: ZMYND8
Gene location (Human) Chr. Chromosome 20 (human) [1] Band 20q13.12 Start 47,209,214 bp [1] End 47,356,889 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2|2 H3 Start 165,626,072 bp [2] End 165,740,936 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus epididymis oocyte caput epididymis pons superior surface of tongue superior vestibular nucleus trigeminal ganglion spongy bone pylorus middle temporal gyrus Top expressed in medullary collecting duct primitive streak retinal pigment epithelium urothelium renal corpuscle mucosa of urinary bladder iris facial motor nucleus left lung lobe yolk sac More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transcription corepressor activity RNA polymerase II transcription regulatory region sequence-specific DNA binding chromatin binding transcription coregulator activity protein binding metal ion binding methylated histone binding lysine-acetylated histone binding protein N-terminus binding zinc ion binding protein domain specific binding Cellular component cytoplasm dendritic shaft dendritic spine nucleus Biological process regulation of postsynaptic density protein 95 clustering positive regulation of filopodium assembly positive regulation of dendritic spine development positive regulation of dendritic spine maintenance modulation of excitatory postsynaptic potential transcription, DNA-templated regulation of transcription, DNA-templated negative regulation of cell migration negative regulation of nucleic acid-templated transcription Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23613 228880 Ensembl ENSG00000101040 ENSMUSG00000039671 UniProt Q9ULU4 n/a RefSeq (mRNA) NM_001281769 NM_001281771 NM_001281772 NM_001281773 NM_001281774 NM_001281775 NM_001281776 NM_001281777 NM_001281778 NM_001281779 NM_001281780 NM_001281781 NM_001281782 NM_001281783 NM_001281784 NM_012408 NM_183047 NM_183048 NM_001363714 NM_001363741 NM_001252584 NM_001252585 NM_001252587 NM_001281926 NM_001291158 NM_027230 NM_172270 NM_001363018 NM_001363019 NM_001363020 NM_001363021 RefSeq (protein) NP_001268698 NP_001268700 NP_001268701 NP_001268702 NP_001268703 NP_001268704 NP_001268705 NP_001268706 NP_001268707 NP_001268708 NP_001268709 NP_001268710 NP_001268711 NP_001268712 NP_001268713 NP_036540 NP_898868 NP_898869 NP_001350643 NP_001350670 n/a Location (UCSC) Chr 20: 47.21 – 47.36 Mb Chr 2: 165.63 – 165.74 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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

Zmynd8 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
All tests and analysis from [6] [7]

Model organisms have been used in the study of ZMYND8 function. A conditional knockout mouse line, called Zmynd8^{tm1a(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

• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Suzuki Y; Yoshitomo-Nakagawa K; Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Mahony D, Kalionis B, Antalis TM (1999). "Plasminogen activator inhibitor type-2 (PAI-2) gene transcription requires a novel NF-kappaB-like transcriptional regulatory motif". Eur. J. Biochem. 263 (3): 765–72. doi:10.1046/j.1432-1327.1999.00552.x. PMID   10469140.
• Hirosawa M; Nagase T; Ishikawa K; et al. (2000). "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain". DNA Res. 6 (5): 329–36. doi: 10.1093/dnares/6.5.329 . PMID   10574461.
• Fossey SC; Kuroda S; Price JA; et al. (2000). "Identification and characterization of PRKCBP1, a candidate RACK-like protein". Mamm. Genome. 11 (10): 919–25. doi:10.1007/s003350010174. PMID   11003709. S2CID   646555.
• Eichmuller S; Usener D; Dummer R; et al. (2001). "Serological detection of cutaneous T-cell lymphoma-associated antigens". Proc. Natl. Acad. Sci. U.S.A. 98 (2): 629–34. doi: 10.1073/pnas.021386498 . PMC   14639 . PMID   11149944.
• Deloukas P; Matthews LH; Ashurst J; et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. Bibcode:2001Natur.414..865D. doi: 10.1038/414865a . PMID   11780052.
• 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.
• Galey D; Becker K; Haughey N; et al. (2003). "Differential transcriptional regulation by human immunodeficiency virus type 1 and gp120 in human astrocytes". J. Neurovirol. 9 (3): 358–71. doi:10.1080/13550280390201119. PMID   12775419. S2CID   22016092.
• Ota T; Suzuki Y; Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Westendorf JJ, Koka S (2004). "Identification of FHOD1-binding proteins and mechanisms of FHOD1-regulated actin dynamics". J. Cell. Biochem. 92 (1): 29–41. doi:10.1002/jcb.20031. PMID   15095401. S2CID   40202935.
• Colland F; Jacq X; Trouplin V; et al. (2004). "Functional Proteomics Mapping of a Human Signaling Pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC   442148 . PMID   15231748.
• 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.
• 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.
• Miles RR, Crockett DK, Lim MS, Elenitoba-Johnson KS (2006). "Analysis of BCL6-interacting proteins by tandem mass spectrometry". Mol. Cell. Proteomics. 4 (12): 1898–909. doi: 10.1074/mcp.M500112-MCP200 . PMID   16147992.
• Lim J; Hao T; Shaw C; et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi: 10.1016/j.cell.2006.03.032 . PMID   16713569. S2CID   13709685.
• 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.