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Protein

Coiled-coil and C2 domain-containing protein 1A

Gene

Cc2d1a

Organism
Mus musculus (Mouse)
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.3 Publications

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):
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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 8

Organism-specific databases

MGIiMGI:2384831 Cc2d1a

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

Disruption phenotypei

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002396101 – 943Coiled-coil and C2 domain-containing protein 1AAdd BLAST943

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei91PhosphothreonineBy similarity1
Modified residuei248PhosphoserineBy similarity1
Modified residuei435PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8K1A6
MaxQBiQ8K1A6
PaxDbiQ8K1A6
PeptideAtlasiQ8K1A6
PRIDEiQ8K1A6

PTM databases

iPTMnetiQ8K1A6
PhosphoSitePlusiQ8K1A6

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

BgeeiENSMUSG00000036686 Expressed in 260 organ(s), highest expression level in cochlea
CleanExiMM_CC2D1A
ExpressionAtlasiQ8K1A6 baseline and differential
GenevisibleiQ8K1A6 MM

Interactioni

Protein-protein interaction databases

IntActiQ8K1A6, 1 interactor
MINTiQ8K1A6
STRINGi10090.ENSMUSP00000046449

Structurei

3D structure databases

ProteinModelPortaliQ8K1A6
SMRiQ8K1A6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini635 – 748C2Add BLAST114

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili339 – 385Sequence analysisAdd BLAST47
Coiled coili477 – 510Sequence analysisAdd BLAST34

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi305 – 338Pro-richAdd BLAST34

Domaini

The C2 domain is required for the repression.

Sequence similaritiesi

Belongs to the CC2D1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG3837 Eukaryota
ENOG410XPM7 LUCA
GeneTreeiENSGT00390000009595
HOGENOMiHOG000285993
HOVERGENiHBG100866
InParanoidiQ8K1A6
KOiK18260
OMAiIYSRGGF
OrthoDBiEOG091G02GK
PhylomeDBiQ8K1A6
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
IPR039725 CC2D1A/B
IPR006608 DM14
PANTHERiPTHR13076 PTHR13076, 1 hit
PfamiView protein in Pfam
PF00168 C2, 1 hit
SMARTiView protein in SMART
SM00239 C2, 1 hit
SM00685 DM14, 4 hits

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PX94E9PX94_MOUSE
Coiled-coil and C2 domain-containin...
Cc2d1a
897Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti446Q → H in ABC56419 (PubMed:12917378).Curated1
Sequence conflicti863P → S in ABC56419 (PubMed:12917378).Curated1

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

Similar proteinsi

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
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8K1A6, 1 interactor
MINTiQ8K1A6
STRINGi10090.ENSMUSP00000046449

PTM databases

iPTMnetiQ8K1A6
PhosphoSitePlusiQ8K1A6

Proteomic databases

EPDiQ8K1A6
MaxQBiQ8K1A6
PaxDbiQ8K1A6
PeptideAtlasiQ8K1A6
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
OMAiIYSRGGF
OrthoDBiEOG091G02GK
PhylomeDBiQ8K1A6
TreeFamiTF314229

Miscellaneous databases

PROiPR:Q8K1A6
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000036686 Expressed in 260 organ(s), highest expression level in cochlea
CleanExiMM_CC2D1A
ExpressionAtlasiQ8K1A6 baseline and differential
GenevisibleiQ8K1A6 MM

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
IPR039725 CC2D1A/B
IPR006608 DM14
PANTHERiPTHR13076 PTHR13076, 1 hit
PfamiView protein in Pfam
PF00168 C2, 1 hit
SMARTiView protein in SMART
SM00239 C2, 1 hit
SM00685 DM14, 4 hits
ProtoNetiSearch...

Entry informationi

Entry nameiC2D1A_MOUSE
AccessioniPrimary (citable) accession number: Q8K1A6
Secondary accession number(s): Q2MJB5, Q8R3Z4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 13, 2006
Last sequence update: June 13, 2006
Last modified: November 7, 2018
This is version 119 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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