CNBP

Protein-coding gene in the species Homo sapiens
CNBP
Identifiers
AliasesCNBP, CNBP1, DM2, PROMM, RNF163, ZCCHC22, ZNF9, CCHC-type zinc finger nucleic acid binding protein
External IDsOMIM: 116955 MGI: 88431 HomoloGene: 2567 GeneCards: CNBP
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for CNBP
Genomic location for CNBP
Band3q21.3Start129,167,827 bp[1]
End129,183,922 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for CNBP
Genomic location for CNBP
Band6|6 D1Start87,819,597 bp[2]
End87,828,088 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • thoracic diaphragm

  • biceps brachii

  • oocyte

  • Achilles tendon

  • gastrocnemius muscle

  • seminal vesicula

  • parotid gland

  • right ventricle

  • germinal epithelium

  • amniotic fluid
Top expressed in
  • otic placode

  • saccule

  • primitive streak

  • abdominal wall

  • hair follicle

  • triceps brachii muscle

  • vastus lateralis muscle

  • intercostal muscle

  • dermis

  • seminal vesicula
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
SpeciesHumanMouse
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 MbChr 6: 87.82 – 87.83 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000169714 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.


  • v
  • t
  • e
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies
Stub icon

This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by expanding it.

  • v
  • t
  • e