CNBP

CNBP
Identifiers
Aliases	CNBP , CNBP1, DM2, PROMM, RNF163, ZCCHC22, ZNF9, CCHC-type zinc finger nucleic acid binding protein
External IDs	OMIM: 116955; MGI: 88431; HomoloGene: 2567; GeneCards: CNBP; OMA:CNBP - orthologs
Gene location (Human) Chr. Chromosome 3 (human) [1] Band 3q21.3 Start 129,167,827 bp [1] End 129,183,922 bp [1]
Gene location (Mouse) Chr. Chromosome 6 (mouse) [2] Band 6|6 D1 Start 87,819,597 bp [2] End 87,828,088 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Skeletal muscle tissue of rectus abdominis thoracic diaphragm biceps brachii Skeletal muscle tissue of biceps brachii oocyte Achilles tendon gastrocnemius muscle seminal vesicula parotid gland tail of epididymis Top expressed in otic placode saccule otic vesicle primitive streak endothelial cell of lymphatic vessel abdominal wall hair follicle vestibular sensory epithelium triceps brachii muscle vastus lateralis muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding nucleic acid binding zinc ion binding DNA-binding transcription factor activity metal ion binding DNA binding single-stranded DNA binding single-stranded RNA binding RNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific mRNA binding translation regulator activity Cellular component nucleus cytoplasm endoplasmic reticulum cytosol Biological process regulation of transcription, DNA-templated cholesterol biosynthetic process transcription, DNA-templated positive regulation of transcription by RNA polymerase II positive regulation of transcription, DNA-templated positive regulation of cell population proliferation negative regulation of transcription by RNA polymerase II positive regulation of cytoplasmic translation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7555 12785 Ensembl ENSG00000169714 ENSMUSG00000030057 UniProt P62633 P53996 RefSeq (mRNA) NM_003418 NM_001127192 NM_001127193 NM_001127194 NM_001127195 NM_001127196 NM_001109745 NM_001109746 NM_013493 NM_001347325 NM_001355195 RefSeq (protein) NP_001120664 NP_001120665 NP_001120666 NP_001120667 NP_001120668 NP_003409 NP_001103215 NP_001103216 NP_001334254 NP_038521 NP_001342124 Location (UCSC) Chr 3: 129.17 – 129.18 Mb Chr 6: 87.82 – 87.83 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Cellular nucleic acid-binding protein is a protein that in humans is encoded by the CNBP gene. ^{[5] [6] [7]}

Function

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] ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000169714 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000030057 – 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. Lusis AJ, Rajavashisth TB, Klisak I, Heinzmann C, Mohandas T, Sparkes RS (Oct 1990). "Mapping of the gene for CNBP, a finger protein, to human chromosome 3q13.3-q24". Genomics. 8 (2): 411–4. doi:10.1016/0888-7543(90)90303-C. PMID   2249857.
6. Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP (Aug 2001). "Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9". Science. 293 (5531): 864–7. doi:10.1126/science.1062125. PMID   11486088. S2CID   30903810.
7. "Entrez Gene: CNBP CCHC-type zinc finger, nucleic acid binding protein".

Further reading

• Rajavashisth TB, Taylor AK, Andalibi A, Svenson KL, Lusis AJ (Aug 1989). "Identification of a zinc finger protein that binds to the sterol regulatory element". Science. 245 (4918): 640–3. Bibcode:1989Sci...245..640R. doi:10.1126/science.2562787. PMID   2562787.
• Flink IL, Morkin E (Oct 1995). "Organization of the gene encoding cellular nucleic acid-binding protein". Gene. 163 (2): 279–82. doi:10.1016/0378-1119(95)00421-2. PMID   7590281.
• Warden CH, Krisans SK, Purcell-Huynh D, Leete LM, Daluiski A, Diep A, Taylor BA, Lusis AJ (Nov 1994). "Mouse cellular nucleic acid binding proteins: a highly conserved family identified by genetic mapping and sequencing". Genomics. 24 (1): 14–9. doi:10.1006/geno.1994.1576. PMID   7896269.
• Ricker K, Grimm T, Koch MC, Schneider C, Kress W, Reimers CD, Schulte-Mattler W, Mueller-Myhsok B, Toyka KV, Mueller CR (Jan 1999). "Linkage of proximal myotonic myopathy to chromosome 3q". Neurology. 52 (1): 170–1. doi:10.1212/wnl.52.1.170. PMID   9921867. S2CID   693401.
• McGrath CF, Buckman JS, Gagliardi TD, Bosche WJ, Coren LV, Gorelick RJ (Aug 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". Journal of Virology. 77 (15): 8524–31. doi:10.1128/JVI.77.15.8524-8531.2003. PMC   165261 . PMID   12857921.
• Vallo L, Bonifazi E, Borgiani P, Novelli G, Botta A (Feb 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". Molecular and Cellular Probes. 19 (1): 71–4. doi:10.1016/j.mcp.2004.09.003. PMID   15652222.
• Botta A, Caldarola S, Vallo L, Bonifazi E, Fruci D, Gullotta F, Massa R, Novelli G, Loreni F (Mar 2006). "Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2)". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1762 (3): 329–34. doi: 10.1016/j.bbadis.2005.11.004 . PMID   16376058.
• Margolis JM, Schoser BG, Moseley ML, Day JW, Ranum LP (Jun 2006). "DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression". Human Molecular Genetics. 15 (11): 1808–15. doi: 10.1093/hmg/ddl103 . PMID   16624843.
• Toth C, Dunham C, Suchowersky O, Parboosingh J, Brownell K (Feb 2007). "Unusual clinical, laboratory, and muscle histopathological findings in a family with myotonic dystrophy type 2". Muscle & Nerve. 35 (2): 259–64. doi:10.1002/mus.20685. PMID   17068784. S2CID   24178593.
• Gerbasi VR, Link AJ (Jun 2007). "The myotonic dystrophy type 2 protein ZNF9 is part of an ITAF complex that promotes cap-independent translation" (PDF). Molecular & Cellular Proteomics. 6 (6): 1049–58. doi: 10.1074/mcp.M600384-MCP200 . PMID   17327219. S2CID   2018887.
• Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1) 89. doi:10.1038/msb4100134. PMC   1847948 . PMID   17353931.

External links

• GeneReviews/NCBI/NIH/UW entry on Myotonic Dystrophy Type 2
• ZNF9+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human CNBP genome location and CNBP gene details page in the UCSC Genome Browser .

This article incorporates text from the United States National Library of Medicine, which is in the public domain.