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Q8IW40

- CC103_HUMAN

UniProt

Q8IW40 - CC103_HUMAN

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Protein
Coiled-coil domain-containing protein 103
Gene
CCDC103
Organism
Homo sapiens (Human)
Status
Reviewed - 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: Chromosome 17

Organism-specific databases

HGNCiHGNC:32700. CCDC103.

Subcellular locationi

Cytoplasm By similarity. Cell projectionciliumflagellum By similarity

GO - Cellular componenti

  1. axoneme Source: BHF-UCL
  2. cytoplasm Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Flagellum

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 17 (CILD17) [MIM:614679]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.

PTM / Processingi

Molecule processing

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

Proteomic databases

PaxDbiQ8IW40.
PRIDEiQ8IW40.

PTM databases

PhosphoSiteiQ8IW40.

Expressioni

Gene expression databases

BgeeiQ8IW40.
CleanExiHS_CCDC103.
GenevestigatoriQ8IW40.

Organism-specific databases

HPAiHPA043131.

Interactioni

Subunit structurei

Homodimer.1 Publication

Structurei

3D structure databases

ProteinModelPortaliQ8IW40.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili8 – 3225 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Belongs to the CCDC103/PR46b family.

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG43148.
HOGENOMiHOG000231454.
HOVERGENiHBG080287.
InParanoidiQ8IW40.
OMAiSSEQTHG.
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. Align

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

MERNDIINFK ALEKELQAAL TADEKYKREN AAKLRAVEQR VASYEEFRGI    50
VLASHLKPLE RKDKMGGKRT VPWNCHTIQG RTFQDVATEI SPEKAPLQPE 100
TSADFYRDWR RHLPSGPERY QALLQLGGPR LGCLFQTDVG FGLLGELLVA 150
LADHVGPADR AAVLGILCSL ASTGRFTLNL SLLSRAERES CKGLFQKLQA 200
MGNPRSVKEG LSWEEQGLEE QSGGLQEEER LLQELLELYQ VD 242
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

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.
VSP_046037
Alternative sequencei99 – 242144Missing in isoform 2.
VSP_046038Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti62 – 621K → E in BAF82449. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 databases

DMDMi74728126.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK289760 mRNA. Translation: BAF82449.1 .
DA749894 mRNA. No translation available.
AC015936 Genomic DNA. No translation available.
BC041060 mRNA. Translation: AAH41060.1 .
CCDSi CCDS11490.1. [Q8IW40-1 ]
CCDS58554.1. [Q8IW40-2 ]
RefSeqi NP_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 ]
UniGenei Hs.743398.

3D structure databases

ProteinModelPortali Q8IW40.
ModBasei Search...
MobiDBi Search...

PTM databases

PhosphoSitei Q8IW40.

Polymorphism databases

DMDMi 74728126.

Proteomic databases

PaxDbi Q8IW40.
PRIDEi Q8IW40.

Protocols and materials databases

DNASUi 388389.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000410006 ; ENSP00000387252 ; ENSG00000167131 . [Q8IW40-1 ]
ENST00000410027 ; ENSP00000386640 ; ENSG00000167131 . [Q8IW40-2 ]
ENST00000417826 ; ENSP00000391692 ; ENSG00000167131 . [Q8IW40-1 ]
GeneIDi 388389.
KEGGi hsa:388389.
UCSCi uc002iho.4. human. [Q8IW40-1 ]

Organism-specific databases

CTDi 388389.
GeneCardsi GC17P042978.
GeneReviewsi CCDC103.
HGNCi HGNC:32700. CCDC103.
HPAi HPA043131.
MIMi 614677. gene.
614679. phenotype.
neXtProti NX_Q8IW40.
Orphaneti 244. Primary ciliary dyskinesia.
PharmGKBi PA145008596.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG43148.
HOGENOMi HOG000231454.
HOVERGENi HBG080287.
InParanoidi Q8IW40.
OMAi SSEQTHG.
PhylomeDBi Q8IW40.
TreeFami TF324467.

Miscellaneous databases

GenomeRNAii 388389.
NextBioi 102019.
PROi Q8IW40.
SOURCEi Search...

Gene expression databases

Bgeei Q8IW40.
CleanExi HS_CCDC103.
Genevestigatori Q8IW40.

Family and domain databases

InterProi IPR025986. RPAP3-like_C.
[Graphical view ]
Pfami PF13877. RPAP3_C. 1 hit.
[Graphical view ]
ProtoNeti Search...

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.

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: July 9, 2014
This is version 78 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

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