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Q8IW40 (CC103_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 78. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Coiled-coil domain-containing protein 103
Gene names
Name:CCDC103
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length242 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Dynein-attachment factor required for cilia motility. Ref.4

Subunit structure

Homodimer. Ref.4

Subcellular location

Cytoplasm By similarity. Cell projectionciliumflagellum By similarity.

Involvement in disease

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. Ref.4

Sequence similarities

Belongs to the CCDC103/PR46b family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IW40-1)

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.
Isoform 2 (identifier: Q8IW40-2)

The sequence of this isoform differs from the canonical sequence as follows:
     93-98: EKAPLQ → NSWKSS
     99-242: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 242242Coiled-coil domain-containing protein 103
PRO_0000263636

Regions

Coiled coil8 – 3225 Potential

Natural variations

Alternative sequence93 – 986EKAPLQ → NSWKSS in isoform 2.
VSP_046037
Alternative sequence99 – 242144Missing in isoform 2.
VSP_046038
Natural variant1541H → P in CILD17. Ref.4
VAR_068449

Experimental info

Sequence conflict621K → E in BAF82449. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: 82738F07296FEDC9

FASTA24227,163
        10         20         30         40         50         60 
MERNDIINFK ALEKELQAAL TADEKYKREN AAKLRAVEQR VASYEEFRGI VLASHLKPLE 

        70         80         90        100        110        120 
RKDKMGGKRT VPWNCHTIQG RTFQDVATEI SPEKAPLQPE TSADFYRDWR RHLPSGPERY 

       130        140        150        160        170        180 
QALLQLGGPR LGCLFQTDVG FGLLGELLVA LADHVGPADR AAVLGILCSL ASTGRFTLNL 

       190        200        210        220        230        240 
SLLSRAERES CKGLFQKLQA MGNPRSVKEG LSWEEQGLEE QSGGLQEEER LLQELLELYQ 


VD 

« Hide

Isoform 2 [UniParc].

Checksum: 2D3B7C6788474100
Show »

FASTA9811,276

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]"CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms."
Panizzi J.R., Becker-Heck A., Castleman V.H., Al-Mutairi D.A., Liu Y., Loges N.T., Pathak N., Austin-Tse C., Sheridan E., Schmidts M., Olbrich H., Werner C., Haffner K., Hellman N., Chodhari R., Gupta A., Kramer-Zucker A., Olale F. expand/collapse author list , Burdine R.D., Schier A.F., O'Callaghan C., Chung E.M., Reinhardt R., Mitchison H.M., King S.M., Omran H., Drummond I.A.
Nat. Genet. 44:714-719(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CILD17 PRO-154, FUNCTION, SUBUNIT.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK289760 mRNA. Translation: BAF82449.1.
DA749894 mRNA. No translation available.
AC015936 Genomic DNA. No translation available.
BC041060 mRNA. Translation: AAH41060.1.
CCDSCCDS11490.1. [Q8IW40-1]
CCDS58554.1. [Q8IW40-2]
RefSeqNP_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]
UniGeneHs.743398.

3D structure databases

ProteinModelPortalQ8IW40.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ8IW40.

Polymorphism databases

DMDM74728126.

Proteomic databases

PaxDbQ8IW40.
PRIDEQ8IW40.

Protocols and materials databases

DNASU388389.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000410006; ENSP00000387252; ENSG00000167131. [Q8IW40-1]
ENST00000410027; ENSP00000386640; ENSG00000167131. [Q8IW40-2]
ENST00000417826; ENSP00000391692; ENSG00000167131. [Q8IW40-1]
GeneID388389.
KEGGhsa:388389.
UCSCuc002iho.4. human. [Q8IW40-1]

Organism-specific databases

CTD388389.
GeneCardsGC17P042978.
GeneReviewsCCDC103.
HGNCHGNC:32700. CCDC103.
HPAHPA043131.
MIM614677. gene.
614679. phenotype.
neXtProtNX_Q8IW40.
Orphanet244. Primary ciliary dyskinesia.
PharmGKBPA145008596.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG43148.
HOGENOMHOG000231454.
HOVERGENHBG080287.
InParanoidQ8IW40.
OMASSEQTHG.
PhylomeDBQ8IW40.
TreeFamTF324467.

Gene expression databases

BgeeQ8IW40.
CleanExHS_CCDC103.
GenevestigatorQ8IW40.

Family and domain databases

InterProIPR025986. RPAP3-like_C.
[Graphical view]
PfamPF13877. RPAP3_C. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi388389.
NextBio102019.
PROQ8IW40.
SOURCESearch...

Entry information

Entry nameCC103_HUMAN
AccessionPrimary (citable) accession number: Q8IW40
Secondary accession number(s): A8K145, B8ZZU0
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM