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Protein

Coiled-coil and C2 domain-containing protein 1B

Gene

CC2D1B

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.1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil and C2 domain-containing protein 1B
Alternative name(s):
Five prime repressor element under dual repression-binding protein 2
Short name:
FRE under dual repression-binding protein 2
Short name:
Freud-2
Gene namesi
Name:CC2D1B
Synonyms:KIAA1836
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000154222.14
HGNCiHGNC:29386 CC2D1B
neXtProtiNX_Q5T0F9

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

Nucleus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000154222
PharmGKBiPA142672198

Polymorphism and mutation databases

BioMutaiCC2D1B
DMDMi74744295

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002884261 – 858Coiled-coil and C2 domain-containing protein 1BAdd BLAST858

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei209PhosphoserineCombined sources1
Modified residuei593PhosphoserineBy similarity1
Modified residuei596PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ5T0F9
MaxQBiQ5T0F9
PaxDbiQ5T0F9
PeptideAtlasiQ5T0F9
PRIDEiQ5T0F9

PTM databases

iPTMnetiQ5T0F9
PhosphoSitePlusiQ5T0F9

Expressioni

Tissue specificityi

Widely distributed in brain and peripheral tissues.1 Publication

Gene expression databases

BgeeiENSG00000154222
CleanExiHS_CC2D1B
ExpressionAtlasiQ5T0F9 baseline and differential
GenevisibleiQ5T0F9 HS

Organism-specific databases

HPAiHPA027500
HPA031426

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
MDFIQ997503EBI-10245204,EBI-724076

Protein-protein interaction databases

BioGridi128291, 21 interactors
IntActiQ5T0F9, 3 interactors
STRINGi9606.ENSP00000360642

Structurei

3D structure databases

ProteinModelPortaliQ5T0F9
SMRiQ5T0F9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini686 – 799C2Add BLAST114

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili166 – 212Sequence analysisAdd BLAST47
Coiled coili611 – 635Sequence analysisAdd BLAST25

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi91 – 143Glu-richAdd BLAST53
Compositional biasi222 – 279Pro-richAdd BLAST58

Sequence similaritiesi

Belongs to the CC2D1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG3837 Eukaryota
ENOG410XPM7 LUCA
GeneTreeiENSGT00390000009595
HOVERGENiHBG100866
InParanoidiQ5T0F9
KOiK18260
OMAiMVTENWL
OrthoDBiEOG091G02GK
PhylomeDBiQ5T0F9
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 (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5T0F9-1) [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
MMPGPRPRKG PQARGQGVAA AKQMGLFMEF GPEDMLLGMD EAEDDEDLEA
60 70 80 90 100
ELLALTGEAQ TTGKKPAPKG QAPLPMAHIE KLAADCMRDV EEEEEEEGLE
110 120 130 140 150
EDAELLTELQ EVLGVDEETE PLDGDEVADP GGSEEENGLE DTEPPVQTAV
160 170 180 190 200
LTASAPAAQA GASQGLHALL EERIHNYREA AASAKEAGEA AKARRCERGL
210 220 230 240 250
KTLESQLASV RRGRKINEDE IPPPVALGKR PLAPQEPANR SPETDPPAPP
260 270 280 290 300
ALESDNPSQP ETSLPGISAQ PVSDLDPDPR ALLSSRQREY KVAALSAKRA
310 320 330 340 350
GELDRARELM RIGKRFGAVL EALEKGQPVD LSAMPPAPED LKPQQASQAP
360 370 380 390 400
TAPSVIPPAV ERVQPVMAPD VPATPVAPTE SQTVLDALQQ RLNKYREAGI
410 420 430 440 450
QARSGGDERK ARMHERIAKQ YQDAIRAHRA GRKVNFAELP VPPGFPPIPG
460 470 480 490 500
LESTMGVEED AVAATLAAAE KLASAEDSAP ADKDEDEPPG HLQGEPPAQA
510 520 530 540 550
PVAKKPARPT VPSSQRLPEP RASSSKESPS PSVREQLALL EARKLQYQRA
560 570 580 590 600
ALQAKRSQDL EQAKAYLRVA KWLEAQIIQA RSGRPVDLSK VPSPLTDEEG
610 620 630 640 650
DFILIHHEDL RLSQKAEEVY AQLQKMLLEQ QEKCLLFSKQ FMHQGNVAET
660 670 680 690 700
TRFEKLAQDR KKQLEILQLA QAQGLDPPTH HFELKTFQTV RIFSELNSTE
710 720 730 740 750
MHLIIVRGMN LPAPPGVTPD DLDAFVRFEF HYPNSDQAQK SKTAVVKNTN
760 770 780 790 800
SPEFDQLFKL NINRNHRGFK RVIQSKGIKF EIFHKGSFFR SDKLVGTAHL
810 820 830 840 850
KLERLENECE IREIVEVLDG RKPTGGKLEV KVRLREPLSG QDVQMVTENW

LVLEPRGL
Length:858
Mass (Da):94,224
Last modified:December 21, 2004 - v1
Checksum:i338DC0A1ED792CDA
GO
Isoform 2 (identifier: Q5T0F9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     488-493: Missing.

Show »
Length:852
Mass (Da):93,595
Checksum:iC494448E2DF76987
GO
Isoform 3 (identifier: Q5T0F9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-309: Missing.
     488-493: Missing.
     832-858: VRLREPLSGQDVQMVTENWLVLEPRGL → PMASTRRGVRPRLCRR

Show »
Length:532
Mass (Da):59,372
Checksum:i2480943BE20DF555
GO
Isoform 4 (identifier: Q5T0F9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-625: Missing.
     817-858: VLDGRKPTGGKLEVKVRLREPLSGQDVQMVTENWLVLEPRGL → MERFRRSEKSHRGTQEKAASLFP

Show »
Length:214
Mass (Da):24,969
Checksum:iC0CACB7B60DEFC07
GO
Isoform 5 (identifier: Q5T0F9-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     104-123: ELLTELQEVLGVDEETEPLD → GRDCAGDDFPSFAGFRSLCT
     124-858: Missing.

Show »
Length:123
Mass (Da):13,229
Checksum:i9F32143025319246
GO

Sequence cautioni

The sequence BAC85450 differs from that shown.Curated
The sequence CAI12282 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06219135M → T. Corresponds to variant dbSNP:rs11555349Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0256581 – 625Missing in isoform 4. 1 PublicationAdd BLAST625
Alternative sequenceiVSP_0256571 – 309Missing in isoform 3. 1 PublicationAdd BLAST309
Alternative sequenceiVSP_025662104 – 123ELLTE…TEPLD → GRDCAGDDFPSFAGFRSLCT in isoform 5. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_025663124 – 858Missing in isoform 5. 1 PublicationAdd BLAST735
Alternative sequenceiVSP_025659488 – 493Missing in isoform 2 and isoform 3. 1 Publication6
Alternative sequenceiVSP_025660817 – 858VLDGR…EPRGL → MERFRRSEKSHRGTQEKAAS LFP in isoform 4. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_025661832 – 858VRLRE…EPRGL → PMASTRRGVRPRLCRR in isoform 3. 1 PublicationAdd BLAST27

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK130874 mRNA Translation: BAC85450.1 Sequence problems.
AL513218 Genomic DNA Translation: CAI12282.1 Sequence problems.
AL513218 Genomic DNA Translation: CAI12283.1
AL513218 Genomic DNA Translation: CAI12284.1
BC007912 mRNA Translation: AAH07912.2
BC016880 mRNA Translation: AAH16880.1
BC039308 mRNA Translation: AAH39308.1
AB058739 mRNA Translation: BAB47465.1
CCDSiCCDS30714.1 [Q5T0F9-1]
CCDS81323.1 [Q5T0F9-2]
RefSeqiNP_001317514.1, NM_001330585.1 [Q5T0F9-2]
NP_115825.1, NM_032449.2 [Q5T0F9-1]
XP_005270647.1, XM_005270590.2 [Q5T0F9-1]
UniGeneiHs.591451

Genome annotation databases

EnsembliENST00000284376; ENSP00000284376; ENSG00000154222 [Q5T0F9-2]
ENST00000371586; ENSP00000360642; ENSG00000154222 [Q5T0F9-1]
GeneIDi200014
KEGGihsa:200014
UCSCiuc001ctq.3 human [Q5T0F9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiC2D1B_HUMAN
AccessioniPrimary (citable) accession number: Q5T0F9
Secondary accession number(s): Q49AE8
, Q5T0F8, Q5T0G0, Q6ZNQ1, Q96AP3, Q96I04, Q96JJ1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: December 21, 2004
Last modified: March 28, 2018
This is version 109 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

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

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