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Protein

Coiled-coil and C2 domain-containing protein 1A

Gene

CC2D1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:CC2D1A
Synonyms:AKI1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000132024.17
HGNCiHGNC:30237 CC2D1A
MIMi610055 gene
neXtProtiNX_Q6P1N0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 3 (MRT3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:608443

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNETi54862
MalaCardsiCC2D1A
MIMi608443 phenotype
OpenTargetsiENSG00000132024
Orphaneti88616 Autosomal recessive non-syndromic intellectual disability
PharmGKBiPA142672197

Polymorphism and mutation databases

BioMutaiCC2D1A
DMDMi74737148

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002396091 – 951Coiled-coil and C2 domain-containing protein 1AAdd BLAST951

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei92PhosphothreonineBy similarity1
Modified residuei204PhosphothreonineCombined sources1
Modified residuei206PhosphothreonineCombined sources1
Modified residuei208Phosphoserine; by CDK1Combined sources1 Publication1
Modified residuei253PhosphoserineCombined sources1
Modified residuei324PhosphoserineCombined sources1
Modified residuei455PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylation on Ser-208 by CDK1 promotes spindle pole localization and association with SCC1/RAD21.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6P1N0
MaxQBiQ6P1N0
PaxDbiQ6P1N0
PeptideAtlasiQ6P1N0
PRIDEiQ6P1N0

PTM databases

iPTMnetiQ6P1N0
PhosphoSitePlusiQ6P1N0

Expressioni

Gene expression databases

BgeeiENSG00000132024
CleanExiHS_CC2D1A
ExpressionAtlasiQ6P1N0 baseline and differential
GenevisibleiQ6P1N0 HS

Organism-specific databases

HPAiCAB015220
HPA005436

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CHMP4BQ9H4443EBI-7112364,EBI-749627

GO - Molecular functioni

Protein-protein interaction databases

BioGridi120212, 38 interactors
IntActiQ6P1N0, 30 interactors
MINTiQ6P1N0
STRINGi9606.ENSP00000313601

Structurei

3D structure databases

ProteinModelPortaliQ6P1N0
SMRiQ6P1N0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini642 – 755C2Add BLAST114

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili346 – 392Sequence analysisAdd BLAST47
Coiled coili484 – 517Sequence analysisAdd BLAST34

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi192 – 345Pro-richAdd BLAST154

Domaini

The C2 domain is required for the repression.By similarity

Sequence similaritiesi

Belongs to the CC2D1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG3837 Eukaryota
ENOG410XPM7 LUCA
GeneTreeiENSGT00390000009595
HOGENOMiHOG000285993
HOVERGENiHBG100866
InParanoidiQ6P1N0
KOiK18260
OMAiIYSRGGF
OrthoDBiEOG091G02GK
PhylomeDBiQ6P1N0
TreeFamiTF314229

Family and domain databases

CDDicd08690 C2_Freud-1, 1 hit
Gene3Di2.60.40.150, 1 hit
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR037772 C2_Freud
IPR006608 DM14
PfamiView protein in Pfam
PF00168 C2, 1 hit
SMARTiView protein in SMART
SM00239 C2, 1 hit
SM00685 DM14, 4 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6P1N0-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MHKRKGPPGP PGRGAAAARQ LGLLVDLSPD GLMIPEDGAN DEELEAEFLA
60 70 80 90 100
LVGGQPPALE KLKGKGPLPM EAIEKMASLC MRDPDEDEEE GTDEDDLEAD
110 120 130 140 150
DDLLAELNEV LGEEQKASET PPPVAQPKPE APHPGLETTL QERLALYQTA
160 170 180 190 200
IESARQAGDS AKMRRYDRGL KTLENLLASI RKGNAIDEAD IPPPVAIGKG
210 220 230 240 250
PASTPTYSPA PTQPAPRIAS APEPRVTLEG PSATAPASSP GLAKPQMPPG
260 270 280 290 300
PCSPGPLAQL QSRQRDYKLA ALHAKQQGDT TAAARHFRVA KSFDAVLEAL
310 320 330 340 350
SRGEPVDLSC LPPPPDQLPP DPPSPPSQPP TPATAPSTTE VPPPPRTLLE
360 370 380 390 400
ALEQRMERYQ VAAAQAKSKG DQRKARMHER IVKQYQDAIR AHKAGRAVDV
410 420 430 440 450
AELPVPPGFP PIQGLEATKP TQQSLVGVLE TAMKLANQDE GPEDEEDEVP
460 470 480 490 500
KKQNSPVAPT AQPKAPPSRT PQSGSAPTAK APPKATSTRA QQQLAFLEGR
510 520 530 540 550
KKQLLQAALR AKQKNDVEGA KMHLRQAKGL EPMLEASRNG LPVDITKVPP
560 570 580 590 600
APVNKDDFAL VQRPGPGLSQ EAARRYGELT KLIRQQHEMC LNHSNQFTQL
610 620 630 640 650
GNITETTKFE KLAEDCKRSM DILKQAFVRG LPTPTARFEQ RTFSVIKIFP
660 670 680 690 700
DLSSNDMLLF IVKGINLPTP PGLSPGDLDV FVRFDFPYPN VEEAQKDKTS
710 720 730 740 750
VIKNTDSPEF KEQFKLCINR SHRGFRRAIQ TKGIKFEVVH KGGLFKTDRV
760 770 780 790 800
LGTAQLKLDA LEIACEVREI LEVLDGRRPT GGRLEVMVRI REPLTAQQLE
810 820 830 840 850
TTTERWLVID PVPAAVPTQV AGPKGKAPPV PAPARESGNR SARPLHSLSV
860 870 880 890 900
LAFDQERLER KILALRQARR PVPPEVAQQY QDIMQRSQWQ RAQLEQGGVG
910 920 930 940 950
IRREYAAQLE RQLQFYTEAA RRLGNDGSRD AAKEALYRRN LVESELQRLR

R
Length:951
Mass (Da):104,062
Last modified:July 5, 2004 - v1
Checksum:i04D80124FC47729A
GO
Isoform 2 (identifier: Q6P1N0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     819-819: Missing.

Note: No experimental confirmation available.
Show »
Length:950
Mass (Da):103,934
Checksum:i4A6B9FF39DECF316
GO

Sequence cautioni

The sequence BAA91029 differs from that shown. Aberrant splicing.Curated
The sequence BAB15464 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti646I → V in AAN04488 (Ref. 1) Curated1
Sequence conflicti824K → E in BAC77355 (PubMed:12761501).Curated1
Sequence conflicti837S → P in BAC77355 (PubMed:12761501).Curated1
Sequence conflicti906A → T in BAC77355 (PubMed:12761501).Curated1
Sequence conflicti943E → G in BAC77355 (PubMed:12761501).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026670339T → P. Corresponds to variant dbSNP:rs11883041EnsemblClinVar.1
Natural variantiVAR_026671635T → S. Corresponds to variant dbSNP:rs2290663Ensembl.1
Natural variantiVAR_026672801T → M. Corresponds to variant dbSNP:rs2305777EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_019242819Missing in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS42512.1 [Q6P1N0-1]
RefSeqiNP_060191.3, NM_017721.4 [Q6P1N0-1]
XP_005260030.1, XM_005259973.2 [Q6P1N0-2]
UniGeneiHs.269592

Genome annotation databases

EnsembliENST00000318003; ENSP00000313601; ENSG00000132024 [Q6P1N0-1]
ENST00000589606; ENSP00000467526; ENSG00000132024 [Q6P1N0-2]
GeneIDi54862
KEGGihsa:54862
UCSCiuc002mxo.3 human [Q6P1N0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiC2D1A_HUMAN
AccessioniPrimary (citable) accession number: Q6P1N0
Secondary accession number(s): Q7Z435
, Q86XV0, Q8NF89, Q9H603, Q9NXI1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 13, 2006
Last sequence update: July 5, 2004
Last modified: May 23, 2018
This is version 131 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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