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Protein

Coiled-coil and C2 domain-containing protein 1A

Gene

Cc2d1a

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.3 Publications

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil and C2 domain-containing protein 1A
Alternative name(s):
Five prime repressor element under dual repression-binding protein 1
Short name:
FRE under dual repression-binding protein 1
Short name:
Freud-1
Gene namesi
Name:Cc2d1a
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 8

Organism-specific databases

MGIiMGI:2384831. Cc2d1a.

Subcellular locationi

  • Cytoplasm By similarity
  • Nucleus By similarity
  • Cytoplasmcytoskeletonmicrotubule organizing centercentrosome By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Disruption phenotypei

Knockout mice die soon after birth, apparently because of their inability to breathe.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 943943Coiled-coil and C2 domain-containing protein 1APRO_0000239610Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei91 – 911PhosphothreonineBy similarity
Modified residuei248 – 2481PhosphoserineBy similarity
Modified residuei435 – 4351PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8K1A6.
MaxQBiQ8K1A6.
PaxDbiQ8K1A6.
PRIDEiQ8K1A6.

PTM databases

iPTMnetiQ8K1A6.
PhosphoSiteiQ8K1A6.

Expressioni

Tissue specificityi

Highly expressed in brain, expression is enriched in the gray matter and strongest in the olfactory bulb.2 Publications

Developmental stagei

Expressed at E12 throughout the ventricular zone and developing cortical plate and ganglionic eminences. At E16 detected throughout the brain but most strongly in the cortical plate. At postnatal day 3 expressed widely with strong expression in cerebral cortex and hippocampus.1 Publication

Gene expression databases

BgeeiQ8K1A6.
CleanExiMM_CC2D1A.
ExpressionAtlasiQ8K1A6. baseline and differential.
GenevisibleiQ8K1A6. MM.

Interactioni

Protein-protein interaction databases

IntActiQ8K1A6. 1 interaction.
STRINGi10090.ENSMUSP00000046449.

Structurei

3D structure databases

ProteinModelPortaliQ8K1A6.
SMRiQ8K1A6. Positions 649-759.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini635 – 748114C2Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili339 – 38547Sequence analysisAdd
BLAST
Coiled coili477 – 51034Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi305 – 33834Pro-richAdd
BLAST

Domaini

The C2 domain is required for the repression.

Sequence similaritiesi

Belongs to the CC2D1 family.Curated
Contains 1 C2 domain.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG3837. Eukaryota.
ENOG410XPM7. LUCA.
GeneTreeiENSGT00390000009595.
HOGENOMiHOG000285993.
HOVERGENiHBG100866.
InParanoidiQ8K1A6.
KOiK18260.
OMAiMERYHVA.
PhylomeDBiQ8K1A6.
TreeFamiTF314229.

Family and domain databases

Gene3Di2.60.40.150. 1 hit.
InterProiIPR000008. C2_dom.
IPR006608. DM14.
[Graphical view]
PfamiPF00168. C2. 1 hit.
[Graphical view]
SMARTiSM00239. C2. 1 hit.
SM00685. DM14. 4 hits.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 1 hit.

Sequencei

Sequence statusi: Complete.

Q8K1A6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MHKRNGPQAP PGRGAVTARQ LGLLVDFSPD GLMIPEDGIN EEELEAEFLA
60 70 80 90 100
LVGGQPQALE KLKGQGPLPM EAIEKMARLC MRDLDEDEEG TDEDDVEADE
110 120 130 140 150
DLLAELNEVL GEEQKAVEPL MPVAQPKPSG PNPGVEATLQ ERLTLYQSAL
160 170 180 190 200
ESARQAGDSA KMRRYDRGLK TLENLLVSAK KGNIINEADI PPPVASGKGA
210 220 230 240 250
AAGHSHTQAT SQLASVSPPA PESSGTLEAP STTTPTSAKP QLPPDPCSPL
260 270 280 290 300
ARLQSLQHEY KLAALRAKHQ DDTATATRHL RIAKSFDPVL EALSRGELVD
310 320 330 340 350
LSRLPPPPDQ LSPEPPLPAA QPLTSASTLT RPEVPQPPRN LLEALEQRME
360 370 380 390 400
RYHVAAAQAK AKGDQRKARM HERIVKQYQD AIRAHKAGRA VDVAELPVPP
410 420 430 440 450
GFPPMQGLES AEPSQQSLVG VLETAMRLAN HDEGSDDEEE ETPKKQNTPA
460 470 480 490 500
ASTTQLKSSP SKAPPSGPAP AGKAAPKGTS NRAQQQLAFL EGRKKQLLQA
510 520 530 540 550
ALRAKQKNDV EGAKMHLRQA KGLEPMLEAS RNGLPVDIAK VPPAPVNKDD
560 570 580 590 600
FVLVQRPGPG LSQEAVRRYG ELTKLLRQQH EMCLNHSTQF THLGNIAETI
610 620 630 640 650
KFEKLAEDCK RSMDTLKQAF ARSLPTPAAR FEQRTFSVIK VFPDLSNSDM
660 670 680 690 700
LLFIVKGINL PTPTGLSPSD LDAFVRFDFP YPNVEEAQKD KTSVIKNTDS
710 720 730 740 750
PEFKEQFKLC INRGHRGFRR AIQTKGIKFE VVHKGGLFKT DRVLGTAQLK
760 770 780 790 800
LGTLETACEV HEILEVLDGR RPTGGRLEVM VRIREPLTAQ QLETTTERWL
810 820 830 840 850
VIDHIPAAMP TVTGPKAKAP LIPASSREAG NRSARPLHSL SVLAFDQERL
860 870 880 890 900
ERKILALRQA RRPVPPEVAQ QYQDVVQRSQ WQRAQLEQGG AALRREYASH
910 920 930 940
LERQLHFYTE AARRLGYDGS REAAKEALYR RNLVESELQR LRR
Length:943
Mass (Da):103,698
Last modified:June 13, 2006 - v2
Checksum:iA730FF6E950DFA81
GO

Sequence cautioni

The sequence AAH16188.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence AAH27028.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence ABC56419.1 differs from that shown. Reason: Frameshift at positions 331, 338 and 342. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti446 – 4461Q → H in ABC56419 (PubMed:12917378).Curated
Sequence conflicti863 – 8631P → S in ABC56419 (PubMed:12917378).Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC016188 mRNA. Translation: AAH16188.1. Different initiation.
BC027028 mRNA. Translation: AAH27028.1. Different initiation.
DQ329239 mRNA. Translation: ABC56419.1. Sequence problems.
CCDSiCCDS40407.1.
RefSeqiNP_666082.2. NM_145970.1.
UniGeneiMm.41424.

Genome annotation databases

EnsembliENSMUST00000040383; ENSMUSP00000046449; ENSMUSG00000036686.
GeneIDi212139.
KEGGimmu:212139.
UCSCiuc009mma.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC016188 mRNA. Translation: AAH16188.1. Different initiation.
BC027028 mRNA. Translation: AAH27028.1. Different initiation.
DQ329239 mRNA. Translation: ABC56419.1. Sequence problems.
CCDSiCCDS40407.1.
RefSeqiNP_666082.2. NM_145970.1.
UniGeneiMm.41424.

3D structure databases

ProteinModelPortaliQ8K1A6.
SMRiQ8K1A6. Positions 649-759.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8K1A6. 1 interaction.
STRINGi10090.ENSMUSP00000046449.

PTM databases

iPTMnetiQ8K1A6.
PhosphoSiteiQ8K1A6.

Proteomic databases

EPDiQ8K1A6.
MaxQBiQ8K1A6.
PaxDbiQ8K1A6.
PRIDEiQ8K1A6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000040383; ENSMUSP00000046449; ENSMUSG00000036686.
GeneIDi212139.
KEGGimmu:212139.
UCSCiuc009mma.1. mouse.

Organism-specific databases

CTDi54862.
MGIiMGI:2384831. Cc2d1a.

Phylogenomic databases

eggNOGiKOG3837. Eukaryota.
ENOG410XPM7. LUCA.
GeneTreeiENSGT00390000009595.
HOGENOMiHOG000285993.
HOVERGENiHBG100866.
InParanoidiQ8K1A6.
KOiK18260.
OMAiMERYHVA.
PhylomeDBiQ8K1A6.
TreeFamiTF314229.

Miscellaneous databases

NextBioi373476.
PROiQ8K1A6.
SOURCEiSearch...

Gene expression databases

BgeeiQ8K1A6.
CleanExiMM_CC2D1A.
ExpressionAtlasiQ8K1A6. baseline and differential.
GenevisibleiQ8K1A6. MM.

Family and domain databases

Gene3Di2.60.40.150. 1 hit.
InterProiIPR000008. C2_dom.
IPR006608. DM14.
[Graphical view]
PfamiPF00168. C2. 1 hit.
[Graphical view]
SMARTiSM00239. C2. 1 hit.
SM00685. DM14. 4 hits.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "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].
    Tissue: Eye and Mammary gland.
  2. "Freud-1: a neuronal calcium-regulated repressor of the 5-HT1A receptor gene."
    Ou X.-M., Lemonde S., Jafar-Nejad H., Bown C.D., Goto A., Rogaeva A., Albert P.R.
    J. Neurosci. 23:7415-7425(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 301-943, FUNCTION.
    Strain: Swiss Webster.
  3. "Cell type-dependent recruitment of trichostatin A-sensitive repression of the human 5-HT1A receptor gene."
    Lemonde S., Rogaeva A., Albert P.R.
    J. Neurochem. 88:857-868(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  4. "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: DEVELOPMENTAL STAGE, TISSUE SPECIFICITY.
  5. "The phagosomal proteome in interferon-gamma-activated macrophages."
    Trost M., English L., Lemieux S., Courcelles M., Desjardins M., Thibault P.
    Immunity 30:143-154(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-435, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-435, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Brain, Kidney, Liver, Lung, Pancreas, Spleen and Testis.
  7. "Cc2d1a, a C2 domain containing protein linked to nonsyndromic mental retardation, controls functional maturation of central synapses."
    Zhao M., Raingo J., Chen Z.J., Kavalali E.T.
    J. Neurophysiol. 105:1506-1515(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISRUPTION PHENOTYPE, TISSUE SPECIFICITY, FUNCTION IN SYNAPSE.

Entry informationi

Entry nameiC2D1A_MOUSE
AccessioniPrimary (citable) accession number: Q8K1A6
Secondary accession number(s): Q2MJB5, Q8R3Z4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 13, 2006
Last sequence update: June 13, 2006
Last modified: March 16, 2016
This is version 103 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.