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Protein

Coiled-coil domain-containing protein 6

Gene

CCDC6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  • structural constituent of cytoskeleton Source: ProtInc
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000108091-MONOMER.
SIGNORiQ16204.

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 6
Alternative name(s):
Papillary thyroid carcinoma-encoded protein
Protein H4
Gene namesi
Name:CCDC6
Synonyms:D10S170, TST1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:18782. CCDC6.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving CCDC6 is found in papillary thyroid carcinomas (PTCs). Inversion inv(10)(q11.2;q21) generates the RET/CCDC6 (PTC1) oncogene.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei101 – 102Breakpoint for translocation to form RET-CCDC6 oncogene2

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi8030.
MalaCardsiCCDC6.
OpenTargetsiENSG00000108091.
Orphaneti146. Papillary or follicular thyroid carcinoma.
PharmGKBiPA134904022.

Polymorphism and mutation databases

BioMutaiCCDC6.
DMDMi292494979.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000893982 – 474Coiled-coil domain-containing protein 6Add BLAST473

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei52PhosphoserineCombined sources1
Modified residuei240PhosphoserineCombined sources1
Modified residuei244PhosphoserineCombined sources1
Modified residuei249PhosphoserineCombined sources1
Modified residuei254PhosphoserineCombined sources1
Modified residuei284PhosphoserineCombined sources1
Modified residuei323PhosphoserineCombined sources1
Modified residuei349PhosphothreonineCombined sources1
Modified residuei363PhosphoserineCombined sources1
Modified residuei367PhosphoserineCombined sources1
Modified residuei387Omega-N-methylarginineBy similarity1
Modified residuei395PhosphoserineCombined sources1
Modified residuei413PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

EPDiQ16204.
MaxQBiQ16204.
PaxDbiQ16204.
PeptideAtlasiQ16204.
PRIDEiQ16204.

PTM databases

iPTMnetiQ16204.
PhosphoSitePlusiQ16204.

Expressioni

Tissue specificityi

Ubiquitously expressed.

Gene expression databases

BgeeiENSG00000108091.
CleanExiHS_CCDC6.
GenevisibleiQ16204. HS.

Organism-specific databases

HPAiHPA019049.
HPA019051.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
FBXW7Q969H09EBI-1045350,EBI-359574
RALBP1Q153114EBI-1045350,EBI-749285

Protein-protein interaction databases

BioGridi113725. 64 interactors.
IntActiQ16204. 35 interactors.
MINTiMINT-5006123.
STRINGi9606.ENSP00000263102.

Structurei

3D structure databases

ProteinModelPortaliQ16204.
SMRiQ16204.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati106 – 1341Add BLAST29
Repeati135 – 1632Add BLAST29
Repeati164 – 1923Add BLAST29
Repeati193 – 2064; approximateAdd BLAST14
Repeati207 – 2355Add BLAST29

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni106 – 2355 X 29 AA tandem repeatsAdd BLAST130

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili53 – 237Sequence analysisAdd BLAST185
Coiled coili253 – 332Sequence analysisAdd BLAST80

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi442 – 451SH3-bindingSequence analysis10

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi17 – 20Poly-Ser4
Compositional biasi32 – 44Poly-GlyAdd BLAST13
Compositional biasi440 – 448Poly-Pro9

Domaini

The protein has mostly an alpha helical conformation similar to myosin heavy-chain tail that might adopt a coiled-coil conformation.

Keywords - Domaini

Coiled coil, Repeat, SH3-binding

Phylogenomic databases

eggNOGiKOG2129. Eukaryota.
ENOG410XR5H. LUCA.
GeneTreeiENSGT00390000013594.
HOGENOMiHOG000091755.
HOVERGENiHBG050823.
InParanoidiQ16204.
KOiK09288.
OMAiCTSIPWL.
OrthoDBiEOG091G07PT.
PhylomeDBiQ16204.
TreeFamiTF321211.

Family and domain databases

InterProiIPR019152. DUF2046.
[Graphical view]
PANTHERiPTHR15276. PTHR15276. 1 hit.
PfamiPF09755. DUF2046. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q16204-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MADSASESDT DGAGGNSSSS AAMQSSCSST SGGGGGGGGG GGGGKSGGIV
60 70 80 90 100
ISPFRLEELT NRLASLQQEN KVLKIELETY KLKCKALQEE NRDLRKASVT
110 120 130 140 150
IQARAEQEEE FISNTLFKKI QALQKEKETL AVNYEKEEEF LTNELSRKLM
160 170 180 190 200
QLQHEKAELE QHLEQEQEFQ VNKLMKKIKK LENDTISKQL TLEQLRREKI
210 220 230 240 250
DLENTLEQEQ EALVNRLWKR MDKLEAEKRI LQEKLDQPVS APPSPRDISM
260 270 280 290 300
EIDSPENMMR HIRFLKNEVE RLKKQLRAAQ LQHSEKMAQY LEEERHMREE
310 320 330 340 350
NLRLQRKLQR EMERREALCR QLSESESSLE MDDERYFNEM SAQGLRPRTV
360 370 380 390 400
SSPIPYTPSP SSSRPISPGL SYASHTVGFT PPTSLTRAGM SYYNSPGLHV
410 420 430 440 450
QHMGTSHGIT RPSPRRSNSP DKFKRPTPPP SPNTQTPVQP PPPPPPPPMQ
460 470
PTVPSAATSQ PTPSQHSAHP SSQP
Length:474
Mass (Da):53,291
Last modified:March 23, 2010 - v2
Checksum:iDF055DBF20304D26
GO

Sequence cautioni

The sequence AAC60637 differs from that shown. Reason: Frameshift at position 456.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti157A → G in AAC60637 (PubMed:8058316).Curated1
Sequence conflicti228K → T in AAC60637 (PubMed:8058316).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062971470P → T.4 PublicationsCorresponds to variant rs1053266dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S72869 mRNA. Translation: AAC60637.1. Frameshift.
AK292593 mRNA. Translation: BAF85282.1.
AC060231 Genomic DNA. No translation available.
AC023904 Genomic DNA. No translation available.
CH471083 Genomic DNA. Translation: EAW54196.1.
BC036757 mRNA. Translation: AAH36757.2.
BC064391 mRNA. Translation: AAH64391.1.
M31213 mRNA. Translation: AAA36524.1. Different termination.
CCDSiCCDS7257.1.
PIRiI58403.
RefSeqiNP_005427.2. NM_005436.4.
UniGeneiHs.591360.

Genome annotation databases

EnsembliENST00000263102; ENSP00000263102; ENSG00000108091.
GeneIDi8030.
KEGGihsa:8030.
UCSCiuc001jks.5. human.

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S72869 mRNA. Translation: AAC60637.1. Frameshift.
AK292593 mRNA. Translation: BAF85282.1.
AC060231 Genomic DNA. No translation available.
AC023904 Genomic DNA. No translation available.
CH471083 Genomic DNA. Translation: EAW54196.1.
BC036757 mRNA. Translation: AAH36757.2.
BC064391 mRNA. Translation: AAH64391.1.
M31213 mRNA. Translation: AAA36524.1. Different termination.
CCDSiCCDS7257.1.
PIRiI58403.
RefSeqiNP_005427.2. NM_005436.4.
UniGeneiHs.591360.

3D structure databases

ProteinModelPortaliQ16204.
SMRiQ16204.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113725. 64 interactors.
IntActiQ16204. 35 interactors.
MINTiMINT-5006123.
STRINGi9606.ENSP00000263102.

PTM databases

iPTMnetiQ16204.
PhosphoSitePlusiQ16204.

Polymorphism and mutation databases

BioMutaiCCDC6.
DMDMi292494979.

Proteomic databases

EPDiQ16204.
MaxQBiQ16204.
PaxDbiQ16204.
PeptideAtlasiQ16204.
PRIDEiQ16204.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263102; ENSP00000263102; ENSG00000108091.
GeneIDi8030.
KEGGihsa:8030.
UCSCiuc001jks.5. human.

Organism-specific databases

CTDi8030.
DisGeNETi8030.
GeneCardsiCCDC6.
H-InvDBHIX0008848.
HGNCiHGNC:18782. CCDC6.
HPAiHPA019049.
HPA019051.
MalaCardsiCCDC6.
MIMi601985. gene.
neXtProtiNX_Q16204.
OpenTargetsiENSG00000108091.
Orphaneti146. Papillary or follicular thyroid carcinoma.
PharmGKBiPA134904022.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2129. Eukaryota.
ENOG410XR5H. LUCA.
GeneTreeiENSGT00390000013594.
HOGENOMiHOG000091755.
HOVERGENiHBG050823.
InParanoidiQ16204.
KOiK09288.
OMAiCTSIPWL.
OrthoDBiEOG091G07PT.
PhylomeDBiQ16204.
TreeFamiTF321211.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000108091-MONOMER.
SIGNORiQ16204.

Miscellaneous databases

ChiTaRSiCCDC6. human.
GeneWikiiCCDC6.
GenomeRNAii8030.
PROiQ16204.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000108091.
CleanExiHS_CCDC6.
GenevisibleiQ16204. HS.

Family and domain databases

InterProiIPR019152. DUF2046.
[Graphical view]
PANTHERiPTHR15276. PTHR15276. 1 hit.
PfamiPF09755. DUF2046. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCCDC6_HUMAN
AccessioniPrimary (citable) accession number: Q16204
Secondary accession number(s): Q15250, Q6GSG7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: March 23, 2010
Last modified: November 30, 2016
This is version 156 of the entry and version 2 of the sequence. [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 10
    Human chromosome 10: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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.