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Protein

Coiled-coil domain-containing protein 103

Gene

CCDC103

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

Functioni

Dynein-attachment factor required for cilia motility.1 Publication

GO - Molecular functioni

  1. protein homodimerization activity Source: BHF-UCL

GO - Biological processi

  1. axonemal dynein complex assembly Source: BHF-UCL
  2. cell projection organization Source: UniProtKB-KW
  3. cilium movement Source: BHF-UCL
  4. determination of digestive tract left/right asymmetry Source: BHF-UCL
  5. epithelial cilium movement involved in determination of left/right asymmetry Source: BHF-UCL
  6. heart looping Source: BHF-UCL
  7. inner dynein arm assembly Source: BHF-UCL
  8. outer dynein arm assembly Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 103
Gene namesi
Name:CCDC103
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:32700. CCDC103.

Subcellular locationi

  1. Cytoplasm By similarity
  2. Cell projectionciliumflagellum By similarity

GO - Cellular componenti

  1. axoneme Source: BHF-UCL
  2. cytoplasm Source: BHF-UCL
  3. motile cilium Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Flagellum

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 17 (CILD17)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

See also OMIM:614679
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti154 – 1541H → P in CILD17. 1 Publication
VAR_068449

Keywords - Diseasei

Ciliopathy, Disease mutation, Primary ciliary dyskinesia

Organism-specific databases

MIMi614679. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA145008596.

Polymorphism and mutation databases

BioMutaiCCDC103.
DMDMi74728126.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 242242Coiled-coil domain-containing protein 103PRO_0000263636Add
BLAST

Proteomic databases

MaxQBiQ8IW40.
PaxDbiQ8IW40.
PRIDEiQ8IW40.

PTM databases

PhosphoSiteiQ8IW40.

Expressioni

Gene expression databases

BgeeiQ8IW40.
CleanExiHS_CCDC103.
GenevestigatoriQ8IW40.

Interactioni

Subunit structurei

Homodimer.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
HGSO149643EBI-10261970,EBI-740220
MEOX2A4D1273EBI-10261970,EBI-10172134
R3HCC1LQ7Z5L23EBI-10261970,EBI-10262006
RUVBL2Q9Y2303EBI-10261970,EBI-352939
VAC14Q08AM63EBI-10261970,EBI-2107455

Protein-protein interaction databases

BioGridi132670. 5 interactions.
IntActiQ8IW40. 5 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ8IW40.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili8 – 3225Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the CCDC103/PR46b family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG43148.
GeneTreeiENSGT00390000004038.
HOGENOMiHOG000090000.
HOVERGENiHBG080287.
InParanoidiQ8IW40.
OMAiEQRVASY.
PhylomeDBiQ8IW40.
TreeFamiTF324467.

Family and domain databases

InterProiIPR025986. RPAP3-like_C.
[Graphical view]
PfamiPF13877. RPAP3_C. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IW40-1) [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
MERNDIINFK ALEKELQAAL TADEKYKREN AAKLRAVEQR VASYEEFRGI
60 70 80 90 100
VLASHLKPLE RKDKMGGKRT VPWNCHTIQG RTFQDVATEI SPEKAPLQPE
110 120 130 140 150
TSADFYRDWR RHLPSGPERY QALLQLGGPR LGCLFQTDVG FGLLGELLVA
160 170 180 190 200
LADHVGPADR AAVLGILCSL ASTGRFTLNL SLLSRAERES CKGLFQKLQA
210 220 230 240
MGNPRSVKEG LSWEEQGLEE QSGGLQEEER LLQELLELYQ VD
Length:242
Mass (Da):27,163
Last modified:March 1, 2003 - v1
Checksum:i82738F07296FEDC9
GO
Isoform 2 (identifier: Q8IW40-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     93-98: EKAPLQ → NSWKSS
     99-242: Missing.

Note: No experimental confirmation available.

Show »
Length:98
Mass (Da):11,276
Checksum:i2D3B7C6788474100
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti62 – 621K → E in BAF82449 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti154 – 1541H → P in CILD17. 1 Publication
VAR_068449

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei93 – 986EKAPLQ → NSWKSS in isoform 2. 1 PublicationVSP_046037
Alternative sequencei99 – 242144Missing in isoform 2. 1 PublicationVSP_046038Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK289760 mRNA. Translation: BAF82449.1.
DA749894 mRNA. No translation available.
AC015936 Genomic DNA. No translation available.
BC041060 mRNA. Translation: AAH41060.1.
CCDSiCCDS11490.1. [Q8IW40-1]
CCDS58554.1. [Q8IW40-2]
RefSeqiNP_001245324.1. NM_001258395.1. [Q8IW40-1]
NP_001245325.1. NM_001258396.1. [Q8IW40-1]
NP_001245326.1. NM_001258397.1. [Q8IW40-2]
NP_998772.1. NM_213607.2. [Q8IW40-1]
UniGeneiHs.743398.

Genome annotation databases

EnsembliENST00000410006; ENSP00000387252; ENSG00000167131. [Q8IW40-1]
ENST00000410027; ENSP00000386640; ENSG00000167131. [Q8IW40-2]
ENST00000417826; ENSP00000391692; ENSG00000167131. [Q8IW40-1]
GeneIDi388389.
KEGGihsa:388389.
UCSCiuc002iho.4. human. [Q8IW40-1]

Polymorphism and mutation databases

BioMutaiCCDC103.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK289760 mRNA. Translation: BAF82449.1.
DA749894 mRNA. No translation available.
AC015936 Genomic DNA. No translation available.
BC041060 mRNA. Translation: AAH41060.1.
CCDSiCCDS11490.1. [Q8IW40-1]
CCDS58554.1. [Q8IW40-2]
RefSeqiNP_001245324.1. NM_001258395.1. [Q8IW40-1]
NP_001245325.1. NM_001258396.1. [Q8IW40-1]
NP_001245326.1. NM_001258397.1. [Q8IW40-2]
NP_998772.1. NM_213607.2. [Q8IW40-1]
UniGeneiHs.743398.

3D structure databases

ProteinModelPortaliQ8IW40.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi132670. 5 interactions.
IntActiQ8IW40. 5 interactions.

PTM databases

PhosphoSiteiQ8IW40.

Polymorphism and mutation databases

BioMutaiCCDC103.
DMDMi74728126.

Proteomic databases

MaxQBiQ8IW40.
PaxDbiQ8IW40.
PRIDEiQ8IW40.

Protocols and materials databases

DNASUi388389.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000410006; ENSP00000387252; ENSG00000167131. [Q8IW40-1]
ENST00000410027; ENSP00000386640; ENSG00000167131. [Q8IW40-2]
ENST00000417826; ENSP00000391692; ENSG00000167131. [Q8IW40-1]
GeneIDi388389.
KEGGihsa:388389.
UCSCiuc002iho.4. human. [Q8IW40-1]

Organism-specific databases

CTDi388389.
GeneCardsiGC17P042978.
GeneReviewsiCCDC103.
HGNCiHGNC:32700. CCDC103.
MIMi614677. gene.
614679. phenotype.
neXtProtiNX_Q8IW40.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA145008596.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG43148.
GeneTreeiENSGT00390000004038.
HOGENOMiHOG000090000.
HOVERGENiHBG080287.
InParanoidiQ8IW40.
OMAiEQRVASY.
PhylomeDBiQ8IW40.
TreeFamiTF324467.

Miscellaneous databases

ChiTaRSiCCDC103. human.
GenomeRNAii388389.
NextBioi102019.
PROiQ8IW40.
SOURCEiSearch...

Gene expression databases

BgeeiQ8IW40.
CleanExiHS_CCDC103.
GenevestigatoriQ8IW40.

Family and domain databases

InterProiIPR025986. RPAP3-like_C.
[Graphical view]
PfamiPF13877. RPAP3_C. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Brain and Teratocarcinoma.
  2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] (ISOFORM 1).
    Tissue: Prostate.
  4. Cited for: VARIANT CILD17 PRO-154, FUNCTION, SUBUNIT.
  5. "Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia."
    Raidt J., Wallmeier J., Hjeij R., Onnebrink J.G., Pennekamp P., Loges N.T., Olbrich H., Haeffner K., Dougherty G.W., Omran H., Werner C.
    Eur. Respir. J. 44:1579-1588(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CILD17.

Entry informationi

Entry nameiCC103_HUMAN
AccessioniPrimary (citable) accession number: Q8IW40
Secondary accession number(s): A8K145, B8ZZU0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 12, 2006
Last sequence update: March 1, 2003
Last modified: April 29, 2015
This is version 86 of the entry and version 1 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 17
    Human chromosome 17: 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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.