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Q6P1N0 (C2D1A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Coiled-coil and C2 domain-containing protein 1A
Alternative name(s):
Akt kinase-interacting protein 1
Five prime repressor element under dual repression-binding protein 1
Short name=FRE under dual repression-binding protein 1
Short name=Freud-1
Putative NF-kappa-B-activating protein 023N
Gene names
Name:CC2D1A
Synonyms:AKI1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length951 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of synapses By similarity. Plays distinct roles depending on its localization. When cytoplasmic, acts as a scaffold protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1A when nuclear. In the centrosome, regulates spindle pole localization of the cohesin subunit SCC1/RAD21, thereby mediating centriole cohesion during mitosis. Ref.10

Subcellular location

Cytoplasm. Nucleus. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome Ref.6 Ref.10.

Domain

The C2 domain is required for the repression By similarity.

Post-translational modification

Phosphorylation on Ser-208 by CDK1 promotes spindle pole localization and association with SCC1/RAD21.

Involvement in disease

Mental retardation, autosomal recessive 3 (MRT3) [MIM:608443]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Belongs to the CC2D1 family.

Contains 1 C2 domain.

Sequence caution

The sequence BAA91029.1 differs from that shown. Reason: Aberrant splicing.

The sequence BAB15464.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6P1N0-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q6P1N0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     819-819: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 951951Coiled-coil and C2 domain-containing protein 1A
PRO_0000239609

Regions

Domain642 – 755114C2
Coiled coil346 – 39247 Potential
Coiled coil484 – 51734 Potential
Compositional bias192 – 345154Pro-rich

Amino acid modifications

Modified residue2041Phosphothreonine Ref.9
Modified residue2081Phosphoserine; by CDK1 Ref.7 Ref.9 Ref.10 Ref.11
Modified residue2531Phosphoserine Ref.9
Modified residue4551Phosphoserine Ref.9 Ref.11 Ref.13

Natural variations

Alternative sequence8191Missing in isoform 2.
VSP_019242
Natural variant3391T → P.
Corresponds to variant rs11883041 [ dbSNP | Ensembl ].
VAR_026670
Natural variant6351T → S.
Corresponds to variant rs2290663 [ dbSNP | Ensembl ].
VAR_026671
Natural variant8011T → M.
Corresponds to variant rs2305777 [ dbSNP | Ensembl ].
VAR_026672

Experimental info

Sequence conflict6461I → V in AAN04488. Ref.1
Sequence conflict8241K → E in BAC77355. Ref.2
Sequence conflict8371S → P in BAC77355. Ref.2
Sequence conflict9061A → T in BAC77355. Ref.2
Sequence conflict9431E → G in BAC77355. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: 04D80124FC47729A

FASTA951104,062
        10         20         30         40         50         60 
MHKRKGPPGP PGRGAAAARQ LGLLVDLSPD GLMIPEDGAN DEELEAEFLA LVGGQPPALE 

        70         80         90        100        110        120 
KLKGKGPLPM EAIEKMASLC MRDPDEDEEE GTDEDDLEAD DDLLAELNEV LGEEQKASET 

       130        140        150        160        170        180 
PPPVAQPKPE APHPGLETTL QERLALYQTA IESARQAGDS AKMRRYDRGL KTLENLLASI 

       190        200        210        220        230        240 
RKGNAIDEAD IPPPVAIGKG PASTPTYSPA PTQPAPRIAS APEPRVTLEG PSATAPASSP 

       250        260        270        280        290        300 
GLAKPQMPPG PCSPGPLAQL QSRQRDYKLA ALHAKQQGDT TAAARHFRVA KSFDAVLEAL 

       310        320        330        340        350        360 
SRGEPVDLSC LPPPPDQLPP DPPSPPSQPP TPATAPSTTE VPPPPRTLLE ALEQRMERYQ 

       370        380        390        400        410        420 
VAAAQAKSKG DQRKARMHER IVKQYQDAIR AHKAGRAVDV AELPVPPGFP PIQGLEATKP 

       430        440        450        460        470        480 
TQQSLVGVLE TAMKLANQDE GPEDEEDEVP KKQNSPVAPT AQPKAPPSRT PQSGSAPTAK 

       490        500        510        520        530        540 
APPKATSTRA QQQLAFLEGR KKQLLQAALR AKQKNDVEGA KMHLRQAKGL EPMLEASRNG 

       550        560        570        580        590        600 
LPVDITKVPP APVNKDDFAL VQRPGPGLSQ EAARRYGELT KLIRQQHEMC LNHSNQFTQL 

       610        620        630        640        650        660 
GNITETTKFE KLAEDCKRSM DILKQAFVRG LPTPTARFEQ RTFSVIKIFP DLSSNDMLLF 

       670        680        690        700        710        720 
IVKGINLPTP PGLSPGDLDV FVRFDFPYPN VEEAQKDKTS VIKNTDSPEF KEQFKLCINR 

       730        740        750        760        770        780 
SHRGFRRAIQ TKGIKFEVVH KGGLFKTDRV LGTAQLKLDA LEIACEVREI LEVLDGRRPT 

       790        800        810        820        830        840 
GGRLEVMVRI REPLTAQQLE TTTERWLVID PVPAAVPTQV AGPKGKAPPV PAPARESGNR 

       850        860        870        880        890        900 
SARPLHSLSV LAFDQERLER KILALRQARR PVPPEVAQQY QDIMQRSQWQ RAQLEQGGVG 

       910        920        930        940        950 
IRREYAAQLE RQLQFYTEAA RRLGNDGSRD AAKEALYRRN LVESELQRLR R 

« Hide

Isoform 2 [UniParc].

Checksum: 4A6B9FF39DECF316
Show »

FASTA950103,934

References

« Hide 'large scale' references
[1]Guo J.H., Chen L., Yu L.
Submitted (AUG-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Kidney.
[2]"Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways."
Matsuda A., Suzuki Y., Honda G., Muramatsu S., Matsuzaki O., Nagano Y., Doi T., Shimotohno K., Harada T., Nishida E., Hayashi H., Sugano S.
Oncogene 22:3307-3318(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Lung fibroblast.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 254-606 AND 622-951 (ISOFORM 1).
Tissue: Ovary.
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain and Ovary.
[5]"Immunoaffinity profiling of tyrosine phosphorylation in cancer cells."
Rush J., Moritz A., Lee K.A., Guo A., Goss V.L., Spek E.J., Zhang H., Zha X.-M., Polakiewicz R.D., Comb M.J.
Nat. Biotechnol. 23:94-101(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[6]"The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation."
Basel-Vanagaite L., Attia R., Yahav M., Ferland R.J., Anteki L., Walsh C.A., Olender T., Straussberg R., Magal N., Taub E., Drasinover V., Alkelai A., Bercovich D., Rechavi G., Simon A.J., Shohat M.
J. Med. Genet. 43:203-210(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, INVOLVEMENT IN MRT3.
[7]"A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-208, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-204; SER-208; SER-253 AND SER-455, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"Mitotic phosphorylation of Aki1 at Ser208 by cyclin B1-Cdk1 complex."
Nakamura A., Naito M., Arai H., Fujita N.
Biochem. Biophys. Res. Commun. 393:872-876(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, PHOSPHORYLATION AT SER-208 BY CDK1, SUBCELLULAR LOCATION.
[11]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-208 AND SER-455, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[12]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-455, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF536205 mRNA. Translation: AAN04488.1.
AB097002 mRNA. Translation: BAC77355.1.
AK000248 mRNA. Translation: BAA91029.1. Sequence problems.
AK026371 mRNA. Translation: BAB15464.1. Different initiation.
BC048345 mRNA. Translation: AAH48345.1.
BC064981 mRNA. Translation: AAH64981.1.
CCDSCCDS42512.1. [Q6P1N0-1]
RefSeqNP_060191.3. NM_017721.4. [Q6P1N0-1]
XP_005260030.1. XM_005259973.1. [Q6P1N0-2]
UniGeneHs.269592.

3D structure databases

ProteinModelPortalQ6P1N0.
SMRQ6P1N0. Positions 656-790.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120212. 7 interactions.
IntActQ6P1N0. 3 interactions.
MINTMINT-4827481.
STRING9606.ENSP00000313601.

PTM databases

PhosphoSiteQ6P1N0.

Polymorphism databases

DMDM74737148.

Proteomic databases

MaxQBQ6P1N0.
PaxDbQ6P1N0.
PRIDEQ6P1N0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000318003; ENSP00000313601; ENSG00000132024. [Q6P1N0-1]
ENST00000589606; ENSP00000467526; ENSG00000132024. [Q6P1N0-2]
GeneID54862.
KEGGhsa:54862.
UCSCuc002mxo.2. human. [Q6P1N0-1]
uc002mxp.2. human. [Q6P1N0-2]

Organism-specific databases

CTD54862.
GeneCardsGC19P014016.
HGNCHGNC:30237. CC2D1A.
HPACAB015220.
HPA005436.
MIM608443. phenotype.
610055. gene.
neXtProtNX_Q6P1N0.
Orphanet88616. Autosomal recessive nonsyndromic intellectual disability.
PharmGKBPA142672197.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG297234.
HOGENOMHOG000285993.
HOVERGENHBG100866.
InParanoidQ6P1N0.
KOK18260.
OMAMERYHVA.
OrthoDBEOG71G9TB.
PhylomeDBQ6P1N0.
TreeFamTF314229.

Gene expression databases

BgeeQ6P1N0.
CleanExHS_CC2D1A.
GenevestigatorQ6P1N0.

Family and domain databases

Gene3D2.60.40.150. 1 hit.
InterProIPR000008. C2_dom.
IPR006608. DM14.
[Graphical view]
PfamPF00168. C2. 1 hit.
[Graphical view]
SMARTSM00239. C2. 1 hit.
SM00685. DM14. 4 hits.
[Graphical view]
SUPFAMSSF49562. SSF49562. 1 hit.
ProtoNetSearch...

Other

ChiTaRSCC2D1A. human.
GeneWikiCC2D1A.
GenomeRNAi54862.
NextBio57750.
PROQ6P1N0.
SOURCESearch...

Entry information

Entry nameC2D1A_HUMAN
AccessionPrimary (citable) accession number: Q6P1N0
Secondary accession number(s): Q7Z435 expand/collapse secondary AC list , Q86XV0, Q8NF89, Q9H603, Q9NXI1
Entry history
Integrated into UniProtKB/Swiss-Prot: June 13, 2006
Last sequence update: July 5, 2004
Last modified: July 9, 2014
This is version 98 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM