CC2D1A

Protein-coding gene in the species Homo sapiens

CC2D1A
Identifiers
AliasesCC2D1A, FREUD-1, Freud-1/Aki1, MRT3, coiled-coil and C2 domain containing 1A
External IDsOMIM: 610055; MGI: 2384831; HomoloGene: 23040; GeneCards: CC2D1A; OMA:CC2D1A - orthologs
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for CC2D1A
Genomic location for CC2D1A
Band19p13.12Start13,906,201 bp[1]
End13,930,879 bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for CC2D1A
Genomic location for CC2D1A
Band8|8 C2Start84,859,457 bp[2]
End84,874,565 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 8: 84.86 – 84.87 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000132024 – Ensembl, May 2017
  2. ^ a b c 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".

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.


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