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Protein

Coiled-coil domain-containing protein 116

Gene

CCDC116

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 116
Gene namesi
Name:CCDC116
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:26688. CCDC116.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: UniProtKB
  • cytoplasm Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA145149301.

Polymorphism and mutation databases

BioMutaiCCDC116.
DMDMi117949387.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 515515Coiled-coil domain-containing protein 116PRO_0000254052Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei386 – 3861PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8IYX3.
PaxDbiQ8IYX3.
PRIDEiQ8IYX3.

PTM databases

iPTMnetiQ8IYX3.
PhosphoSiteiQ8IYX3.

Expressioni

Gene expression databases

BgeeiENSG00000161180.
CleanExiHS_CCDC116.
ExpressionAtlasiQ8IYX3. baseline and differential.
GenevisibleiQ8IYX3. HS.

Organism-specific databases

HPAiHPA000853.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
FAM9BQ8IZU03EBI-744311,EBI-10175124
MDFIQ997504EBI-744311,EBI-724076
MTUS2Q5JR594EBI-744311,EBI-742948
NGFRAP1Q009944EBI-744311,EBI-741753
TFIP11Q9UBB93EBI-744311,EBI-1105213
TRAF1Q130773EBI-744311,EBI-359224
USHBP1Q8N6Y03EBI-744311,EBI-739895

Protein-protein interaction databases

BioGridi127896. 12 interactions.
IntActiQ8IYX3. 10 interactions.
STRINGi9606.ENSP00000292779.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili79 – 10426Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi152 – 1587Poly-Ser

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IVER. Eukaryota.
ENOG41116BA. LUCA.
GeneTreeiENSGT00390000002259.
HOGENOMiHOG000170864.
HOVERGENiHBG081029.
InParanoidiQ8IYX3.
OMAiMTSCRHH.
OrthoDBiEOG091G05SL.
PhylomeDBiQ8IYX3.
TreeFamiTF337163.

Family and domain databases

InterProiIPR031532. DUF4702.
[Graphical view]
PfamiPF15774. DUF4702. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IYX3-1) [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
MARCRHHSGY LADDEASHSM CSARVQLPKK PLVPEMRPAC KPGRVPHPPS
60 70 80 90 100
TCGSSALQGQ RRNKRHPQPF GHFLDFLTES QVLDSLETVV EKATERMAAM
110 120 130 140 150
KTEAGVPLVE VQDPVEVPSG GRRAHARPSL STVHRHRVRP TLCTGHPNNY
160 170 180 190 200
PSSSSSMSNC HSSLMAGCLG SHSRDSDLGA QGSLPPVRDK LLLEKNLKRL
210 220 230 240 250
LQLEREGKGL SQSCSQRDSL LWDSLGSQTS FQWTQEQPLS WFSGLLGSSS
260 270 280 290 300
GVPEASEPRP GEQEPIFRKR EFNKEIKSLL SQLESLDLPG YCPLREPHRT
310 320 330 340 350
LNFLADHRLF PALQSVVSQA VDKLRGAHCR DGRPLFPTSL EPTSDLPPLG
360 370 380 390 400
SEPAKPTNGG QPYASPRPTV SSPKMLQRKR KDRGGSPSMS SAQVATRFKL
410 420 430 440 450
KSPCSSSRFT KKKPLPSISS KSSMSHFSNR LYEELADFLT QQAASLVIRK
460 470 480 490 500
YEFEKDLSKQ LGFFSFPITH VLRDLSLGLK KVKGSRIHLS SETHRSCLLR
510
KLEESKRAAA VSLEA
Length:515
Mass (Da):56,940
Last modified:October 31, 2006 - v2
Checksum:i2FC1C03E0579374C
GO
Isoform 2 (identifier: Q8IYX3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     509-515: AAVSLEA → RQASRLSTSH...QDEDKDEDGV

Note: No experimental confirmation available.
Show »
Length:613
Mass (Da):67,946
Checksum:iDB4396CBD001BA19
GO
Isoform 3 (identifier: Q8IYX3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     402-515: SPCSSSRFTK...KRAAAVSLEA → VTPTEKPNVP...QEKGSLTHHS

Note: No experimental confirmation available.
Show »
Length:526
Mass (Da):57,184
Checksum:iB61DF39AB6E77B01
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti96 – 961R → C.
Corresponds to variant rs861854 [ dbSNP | Ensembl ].
VAR_028803
Natural varianti121 – 1211G → R.
Corresponds to variant rs371513 [ dbSNP | Ensembl ].
VAR_028804
Natural varianti122 – 1221R → W.
Corresponds to variant rs861853 [ dbSNP | Ensembl ].
VAR_028805
Natural varianti199 – 1991R → W.
Corresponds to variant rs12170285 [ dbSNP | Ensembl ].
VAR_028806
Natural varianti293 – 2931P → L.
Corresponds to variant rs41279987 [ dbSNP | Ensembl ].
VAR_061578
Natural varianti436 – 4361A → T.
Corresponds to variant rs11705259 [ dbSNP | Ensembl ].
VAR_028807

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei402 – 515114SPCSS…VSLEA → VTPTEKPNVPSPSLHSREEA PDSDPKLQNPPVSLSSSQRA QPWQGLHLTLPTPGIVVEVA CSQGHLRGPVTPPLSSPYPR SSCYLLPELSPVASSSPASL CPEVTSSKVGPGMSLQEKGS LTHHS in isoform 3. 1 PublicationVSP_057267Add
BLAST
Alternative sequencei509 – 5157AAVSLEA → RQASRLSTSHCSTETPSVQQ EPATHTAQDQATEPCRSLYT NLPASRQLSPLEPKLYMSAC TGMGSSPPKSKDMDNEGRDK AEIEDEDEDEFKDEDQDEDK DEDGV in isoform 2. 1 PublicationVSP_021175

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK093365 mRNA. Translation: BAC04145.1.
AK302030 mRNA. Translation: BAH13611.1.
AP000553 Genomic DNA. No translation available.
CH471095 Genomic DNA. Translation: EAW59466.1.
BC033499 mRNA. Translation: AAH33499.1.
CCDSiCCDS13791.1. [Q8IYX3-2]
RefSeqiNP_689825.2. NM_152612.2. [Q8IYX3-2]
UniGeneiHs.131615.

Genome annotation databases

EnsembliENST00000292779; ENSP00000292779; ENSG00000161180. [Q8IYX3-2]
ENST00000607942; ENSP00000476296; ENSG00000161180. [Q8IYX3-3]
GeneIDi164592.
KEGGihsa:164592.
UCSCiuc002zve.4. human. [Q8IYX3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK093365 mRNA. Translation: BAC04145.1.
AK302030 mRNA. Translation: BAH13611.1.
AP000553 Genomic DNA. No translation available.
CH471095 Genomic DNA. Translation: EAW59466.1.
BC033499 mRNA. Translation: AAH33499.1.
CCDSiCCDS13791.1. [Q8IYX3-2]
RefSeqiNP_689825.2. NM_152612.2. [Q8IYX3-2]
UniGeneiHs.131615.

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127896. 12 interactions.
IntActiQ8IYX3. 10 interactions.
STRINGi9606.ENSP00000292779.

PTM databases

iPTMnetiQ8IYX3.
PhosphoSiteiQ8IYX3.

Polymorphism and mutation databases

BioMutaiCCDC116.
DMDMi117949387.

Proteomic databases

MaxQBiQ8IYX3.
PaxDbiQ8IYX3.
PRIDEiQ8IYX3.

Protocols and materials databases

DNASUi164592.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000292779; ENSP00000292779; ENSG00000161180. [Q8IYX3-2]
ENST00000607942; ENSP00000476296; ENSG00000161180. [Q8IYX3-3]
GeneIDi164592.
KEGGihsa:164592.
UCSCiuc002zve.4. human. [Q8IYX3-1]

Organism-specific databases

CTDi164592.
GeneCardsiCCDC116.
HGNCiHGNC:26688. CCDC116.
HPAiHPA000853.
neXtProtiNX_Q8IYX3.
PharmGKBiPA145149301.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVER. Eukaryota.
ENOG41116BA. LUCA.
GeneTreeiENSGT00390000002259.
HOGENOMiHOG000170864.
HOVERGENiHBG081029.
InParanoidiQ8IYX3.
OMAiMTSCRHH.
OrthoDBiEOG091G05SL.
PhylomeDBiQ8IYX3.
TreeFamiTF337163.

Miscellaneous databases

GenomeRNAii164592.
PROiQ8IYX3.

Gene expression databases

BgeeiENSG00000161180.
CleanExiHS_CCDC116.
ExpressionAtlasiQ8IYX3. baseline and differential.
GenevisibleiQ8IYX3. HS.

Family and domain databases

InterProiIPR031532. DUF4702.
[Graphical view]
PfamiPF15774. DUF4702. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCC116_HUMAN
AccessioniPrimary (citable) accession number: Q8IYX3
Secondary accession number(s): B7Z7H5, Q8N9Y9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 31, 2006
Last modified: September 7, 2016
This is version 89 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 22
    Human chromosome 22: 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

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.