• Gene id: 54862

Gene Summary

• Gene Symbol: CC2D1A   Gene   UCSC   Ensembl
• Aliases: FREUD-1, Freud-1/Aki1, MRT3
• Gene name: coiled-coil and C2 domain containing 1A
• Alternate names: coiled-coil and C2 domain-containing protein 1A, Akt kinase-interacting protein 1, FRE under dual repression-binding protein 1, five prime repressor element under dual repression-binding protein 1, five repressor element under dual repression-binding protein ,
• Gene location: 19p13.12 (13906148: 13930878)     Exons: 28     NC_000019.10
• Gene summary(Entrez): This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities
• OMIM: 614802

Protein Summary

• Protein general information: Q6P1N0  
  • Name: Coiled coil and C2 domain containing protein 1A (Akt kinase interacting protein 1) (Five prime repressor element under dual repression binding protein 1) (FRE under dual repression binding protein 1) (Freud 1) (Putative NF kappa B activating protein 023N)
  • Length: 951  
  • Mass: 104062
• Sequence:

  MHKRKGPPGPPGRGAAAARQLGLLVDLSPDGLMIPEDGANDEELEAEFLALVGGQPPALEKLKGKGPLPMEAIEK
  MASLCMRDPDEDEEEGTDEDDLEADDDLLAELNEVLGEEQKASETPPPVAQPKPEAPHPGLETTLQERLALYQTA
  IESARQAGDSAKMRRYDRGLKTLENLLASIRKGNAIDEADIPPPVAIGKGPASTPTYSPAPTQPAPRIASAPEPR
  VTLEGPSATAPASSPGLAKPQMPPGPCSPGPLAQLQSRQRDYKLAALHAKQQGDTTAAARHFRVAKSFDAVLEAL
  SRGEPVDLSCLPPPPDQLPPDPPSPPSQPPTPATAPSTTEVPPPPRTLLEALEQRMERYQVAAAQAKSKGDQRKA
  RMHERIVKQYQDAIRAHKAGRAVDVAELPVPPGFPPIQGLEATKPTQQSLVGVLETAMKLANQDEGPEDEEDEVP
  KKQNSPVAPTAQPKAPPSRTPQSGSAPTAKAPPKATSTRAQQQLAFLEGRKKQLLQAALRAKQKNDVEGAKMHLR
  QAKGLEPMLEASRNGLPVDITKVPPAPVNKDDFALVQRPGPGLSQEAARRYGELTKLIRQQHEMCLNHSNQFTQL
  GNITETTKFEKLAEDCKRSMDILKQAFVRGLPTPTARFEQRTFSVIKIFPDLSSNDMLLFIVKGINLPTPPGLSP
  GDLDVFVRFDFPYPNVEEAQKDKTSVIKNTDSPEFKEQFKLCINRSHRGFRRAIQTKGIKFEVVHKGGLFKTDRV
  LGTAQLKLDALEIACEVREILEVLDGRRPTGGRLEVMVRIREPLTAQQLETTTERWLVIDPVPAAVPTQVAGPKG
  KAPPVPAPARESGNRSARPLHSLSVLAFDQERLERKILALRQARRPVPPEVAQQYQDIMQRSQWQRAQLEQGGVG
  IRREYAAQLERQLQFYTEAARRLGNDGSRDAAKEALYRRNLVESELQRLRR

• Structural information:
  • Protein Domains: (637..77-)
    (/note="C2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR000008  IPR035892  IPR037772  IPR039725  IPR006608  
  • Prosite: PS50004
  • CDD: cd08690
  • STRING: ENSP00000313601
• Other Databases: GeneCards:  CC2D1A  Malacards:  CC2D1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045296	cadherin binding	HDA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	HMP	biological process

Diseases

Associated diseases	References
Autosomal recessive mental retardation	KEGG:H00768
Autosomal recessive mental retardation	KEGG:H00768
Intellectual disability	PMID:22023432
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq