CNBP
From Wikipedia, the free encyclopedia
CCHC-type zinc finger, nucleic acid binding protein
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Identifiers | ||||||||||||||
Symbol(s) | CNBP; CNBP1; DM2; PROMM; RNF163; ZCCHC22; ZNF9 | |||||||||||||
External IDs | OMIM: 116955 MGI: 88431 HomoloGene: 2567 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 7555 | 12785 | ||||||||||||
Ensembl | ENSG00000169714 | ENSMUSG00000030057 | ||||||||||||
Uniprot | P62633 | Q3U5V2 | ||||||||||||
Refseq | NM_003418 (mRNA) NP_003409 (protein) |
NM_013493 (mRNA) NP_038521 (protein) |
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Location | Chr 3: 130.37 - 130.39 Mb | Chr 6: 87.81 - 87.82 Mb | ||||||||||||
Pubmed search | [1] | [2] |
CCHC-type zinc finger, nucleic acid binding protein, also known as CNBP, is a human gene.[1]
The ZNF9 protein contains 7 zinc finger domains and is believed to function as an RNA-binding protein. A CCTG expansion in intron 1 of the ZNF9 gene results in myotonic dystrophy type 2 (MIM 602668).[supplied by OMIM][1]
[edit] References
[edit] Further reading
- Lusis AJ, Rajavashisth TB, Klisak I, et al. (1991). "Mapping of the gene for CNBP, a finger protein, to human chromosome 3q13.3-q24.". Genomics 8 (2): 411-4. PMID 2249857.
- Rajavashisth TB, Taylor AK, Andalibi A, et al. (1989). "Identification of a zinc finger protein that binds to the sterol regulatory element.". Science 245 (4918): 640-3. PMID 2562787.
- Flink IL, Morkin E (1995). "Organization of the gene encoding cellular nucleic acid-binding protein.". Gene 163 (2): 279-82. PMID 7590281.
- Warden CH, Krisans SK, Purcell-Huynh D, et al. (1995). "Mouse cellular nucleic acid binding proteins: a highly conserved family identified by genetic mapping and sequencing.". Genomics 24 (1): 14-9. doi: . PMID 7896269.
- Ricker K, Grimm T, Koch MC, et al. (1999). "Linkage of proximal myotonic myopathy to chromosome 3q.". Neurology 52 (1): 170-1. PMID 9921867.
- Liquori CL, Ricker K, Moseley ML, et al. (2001). "Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.". Science 293 (5531): 864-7. doi: . PMID 11486088.
- 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. doi: . PMID 12477932.
- McGrath CF, Buckman JS, Gagliardi TD, et al. (2003). "Human cellular nucleic acid-binding protein Zn2+ fingers support replication of human immunodeficiency virus type 1 when they are substituted in the nucleocapsid protein.". J. Virol. 77 (15): 8524-31. PMID 12857921.
- 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: . PMID 14702039.
- 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: . PMID 15489334.
- Vallo L, Bonifazi E, Borgiani P, et al. (2005). "Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population.". Mol. Cell. Probes 19 (1): 71-4. doi: . PMID 15652222.
- Botta A, Caldarola S, Vallo L, et al. (2006). "Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).". Biochim. Biophys. Acta 1762 (3): 329-34. doi: . PMID 16376058.
- Margolis JM, Schoser BG, Moseley ML, et al. (2006). "DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression.". Hum. Mol. Genet. 15 (11): 1808-15. doi: . PMID 16624843.
- Toth C, Dunham C, Suchowersky O, et al. (2007). "Unusual clinical, laboratory, and muscle histopathological findings in a family with myotonic dystrophy type 2.". Muscle Nerve 35 (2): 259-64. doi: . PMID 17068784.
- Gerbasi VR, Link AJ (2007). "The myotonic dystrophy type 2 protein ZNF9 is part of an ITAF complex that promotes cap-independent translation.". Mol. Cell Proteomics 6 (6): 1049-58. doi: . PMID 17327219.
- Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry.". Mol. Syst. Biol. 3: 89. doi: . PMID 17353931.
[edit] External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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