CC2D1A

CC2D1A
Identifiers
Aliases	CC2D1A , FREUD-1, Freud-1/Aki1, MRT3, coiled-coil and C2 domain containing 1A
External IDs	OMIM: 610055; MGI: 2384831; HomoloGene: 23040; GeneCards: CC2D1A; OMA:CC2D1A - orthologs
Gene location (Human) Chr. Chromosome 19 (human) [1] Band 19p13.12 Start 13,906,201 bp [1] End 13,930,879 bp [1]
Gene location (Mouse) Chr. Chromosome 8 (mouse) [2] Band 8|8 C2 Start 84,859,457 bp [2] End 84,874,565 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum mucosa of transverse colon right frontal lobe pituitary gland hypothalamus right uterine tube primary visual cortex anterior pituitary duodenum anterior cingulate cortex Top expressed in saccule internal carotid artery otic vesicle external carotid artery lip primary oocyte zygote granulocyte otic placode dentate gyrus of hippocampal formation granule cell More reference expression data BioGPS More reference expression data
Gene ontology Molecular function RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific protein binding signal transducer activity cadherin binding Cellular component cytoplasm extracellular exosome cytoskeleton nucleus membrane microtubule organizing center fibrillar center cytosol plasma membrane Biological process positive regulation of I-kappaB kinase/NF-kappaB signaling regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II transcription, DNA-templated signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54862 212139 Ensembl ENSG00000132024 ENSMUSG00000036686 UniProt Q6P1N0 Q8K1A6 RefSeq (mRNA) NM_017721 NM_145970 NM_001381871 NM_001381872 NM_001381873 RefSeq (protein) NP_060191 NP_666082 NP_001368800 NP_001368801 NP_001368802 Location (UCSC) Chr 19: 13.91 – 13.93 Mb Chr 8: 84.86 – 84.87 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Coiled-coil and C2 domain-containing protein 1A is a protein that in humans is encoded by the CC2D1A gene. ^{[5] [6] [7]}

References

1. GRCh38: Ensembl release 89: ENSG00000132024 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000036686 – 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. Matsuda A, Suzuki Y, Honda G, Muramatsu S, Matsuzaki O, Nagano Y, Doi T, Shimotohno K, Harada T, Nishida E, Hayashi H, Sugano S (May 2003). "Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways". Oncogene. 22 (21): 3307–18. doi: 10.1038/sj.onc.1206406 . PMID   12761501.
6. Basel-Vanagaite L, Attia R, Yahav M, Ferland RJ, Anteki L, Walsh CA, Olender T, Straussberg R, Magal N, Taub E, Drasinover V, Alkelai A, Bercovich D, Rechavi G, Simon AJ, Shohat M (Mar 2006). "The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation". J Med Genet. 43 (3): 203–10. doi:10.1136/jmg.2005.035709. PMC   2563235 . PMID   16033914.
7. "Entrez Gene: CC2D1A coiled-coil and C2 domain containing 1A".

External links

• Human CC2D1A genome location and CC2D1A gene details page in the UCSC Genome Browser .

Further reading

• Albert PR, Lemonde S (2005). "5-HT1A receptors, gene repression, and depression: guilt by association". The Neuroscientist. 10 (6): 575–93. doi:10.1177/1073858404267382. PMID   15534042. S2CID   30402944.
• 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.
• Basel-Vanagaite L, Alkelai A, Straussberg R, et al. (2003). "Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity". J. Med. Genet. 40 (10): 729–32. doi:10.1136/jmg.40.10.729. PMC   1735276 . PMID   14569116.
• 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.
• Lemonde S, Rogaeva A, Albert PR (2004). "Cell type-dependent recruitment of trichostatin A-sensitive repression of the human 5-HT1A receptor gene". J. Neurochem. 88 (4): 857–68. doi: 10.1046/j.1471-4159.2003.02223.x . PMID   14756806. S2CID   37176837.
• 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.
• Rush J, Moritz A, Lee KA, et al. (2005). "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells". Nat. Biotechnol. 23 (1): 94–101. doi:10.1038/nbt1046. PMID   15592455. S2CID   7200157.
• Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID   16964243. S2CID   14294292.
• Rogaeva A, Ou XM, Jafar-Nejad H, et al. (2007). "Differential repression by freud-1/CC2D1A at a polymorphic site in the dopamine-D2 receptor gene". J. Biol. Chem. 282 (29): 20897–905. doi: 10.1074/jbc.M610038200 . PMID   17535813.
• Rogaeva A, Albert PR (2007). "The mental retardation gene CC2D1A/Freud-1 encodes a long isoform that binds conserved DNA elements to repress gene transcription". Eur. J. Neurosci. 26 (4): 965–74. doi:10.1111/j.1460-9568.2007.05727.x. PMID   17714190. S2CID   29590846.