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Aliases for CCDC103 Gene

Aliases for CCDC103 Gene

  • Coiled-Coil Domain Containing 103 2 3
  • CILD17 3 6
  • PR46b 3 6
  • SMH 3 6
  • Coiled-Coil Domain-Containing Protein 103 3

External Ids for CCDC103 Gene

Summaries for CCDC103 Gene

Entrez Gene Summary for CCDC103 Gene

  • This gene encodes a protein that contains a coiled-coil domain. [provided by RefSeq, Apr 2012]

GeneCards Summary for CCDC103 Gene

CCDC103 (Coiled-Coil Domain Containing 103) is a Protein Coding gene. Diseases associated with CCDC103 include ciliary dyskinesia, primary, 17 and primary ciliary dyskinesia17: ccdc103-related primary ciliary dyskinesia. GO annotations related to this gene include protein homodimerization activity.

UniProtKB/Swiss-Prot for CCDC103 Gene

  • Dynein-attachment factor required for cilia motility.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC103 Gene

Genomics for CCDC103 Gene

Genomic Location for CCDC103 Gene

Start:
44,899,142 bp from pter
End:
44,905,390 bp from pter
Size:
6,249 bases
Orientation:
Plus strand

Genomic View for CCDC103 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CCDC103 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC103 Gene

Regulatory Elements for CCDC103 Gene

Proteins for CCDC103 Gene

  • Protein details for CCDC103 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IW40-CC103_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 103
    Protein Accession:
    Q8IW40
    Secondary Accessions:
    • A8K145
    • B8ZZU0

    Protein attributes for CCDC103 Gene

    Size:
    242 amino acids
    Molecular mass:
    27163 Da
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for CCDC103 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC103 Gene

Proteomics data for CCDC103 Gene at MOPED

Post-translational modifications for CCDC103 Gene

No Post-translational modifications

No data available for DME Specific Peptides for CCDC103 Gene

Domains for CCDC103 Gene

Protein Domains for CCDC103 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

CC103_HUMAN
Family:
  • Belongs to the CCDC103/PR46b family.:
    • Q8IW40
genes like me logo Genes that share domains with CCDC103: view

No data available for Gene Families for CCDC103 Gene

Function for CCDC103 Gene

Molecular function for CCDC103 Gene

UniProtKB/Swiss-Prot Function: Dynein-attachment factor required for cilia motility.

Gene Ontology (GO) - Molecular Function for CCDC103 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0042803 protein homodimerization activity IDA 22581229
genes like me logo Genes that share ontologies with CCDC103: view

Phenotypes for CCDC103 Gene

genes like me logo Genes that share phenotypes with CCDC103: view

miRNA for CCDC103 Gene

miRTarBase miRNAs that target CCDC103

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CCDC103 Gene

Localization for CCDC103 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC103 Gene

Cytoplasm. Cell projection, cilium, flagellum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCDC103 Gene COMPARTMENTS Subcellular localization image for CCDC103 gene
Compartment Confidence
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for CCDC103 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS 22581229
GO:0005930 axoneme ISS 22581229
GO:0031514 motile cilium IEA --
genes like me logo Genes that share ontologies with CCDC103: view

Pathways for CCDC103 Gene

SuperPathways for CCDC103 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC103 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001947 heart looping IMP 22581229
GO:0003341 cilium movement IGI 22581229
GO:0030030 cell projection organization IEA --
GO:0036158 outer dynein arm assembly IGI 22581229
GO:0036159 inner dynein arm assembly IGI 22581229
genes like me logo Genes that share ontologies with CCDC103: view

No data available for Pathways by source for CCDC103 Gene

Transcripts for CCDC103 Gene

Unigene Clusters for CCDC103 Gene

Coiled-coil domain containing 103:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC103 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b
SP1: - -
SP2:
SP3: -
SP4:

Relevant External Links for CCDC103 Gene

GeneLoc Exon Structure for
CCDC103
ECgene alternative splicing isoforms for
CCDC103

Expression for CCDC103 Gene

mRNA expression in normal human tissues for CCDC103 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CCDC103 Gene

SOURCE GeneReport for Unigene cluster for CCDC103 Gene Hs.743398

genes like me logo Genes that share expressions with CCDC103: view

Orthologs for CCDC103 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC103 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC103 36
  • 99.59 (n)
  • 99.17 (a)
CCDC103 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC103 36
  • 86.95 (n)
  • 83.83 (a)
CCDC103 37
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC103 37
  • 83 (a)
OneToOne
LOC490934 36
  • 85.67 (n)
  • 83.06 (a)
mouse
(Mus musculus)
Mammalia Ccdc103 36
  • 83.57 (n)
  • 80.93 (a)
Ccdc103 16
Ccdc103 37
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC103 37
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC103 37
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc103 36
  • 81.24 (n)
  • 80 (a)
chicken
(Gallus gallus)
Aves CCDC103 36
  • 59.46 (n)
  • 59.3 (a)
CCDC103 37
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC103 37
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc103 36
  • 54.33 (n)
  • 47.6 (a)
zebrafish
(Danio rerio)
Actinopterygii ccdc103 36
  • 52.17 (n)
  • 49.5 (a)
ccdc103 37
  • 44 (a)
OneToOne
Species with no ortholog for CCDC103:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCDC103 Gene

ENSEMBL:
Gene Tree for CCDC103 (if available)
TreeFam:
Gene Tree for CCDC103 (if available)

Paralogs for CCDC103 Gene

No data available for Paralogs for CCDC103 Gene

Variants for CCDC103 Gene

Sequence variations from dbSNP and Humsavar for CCDC103 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs8079308 -- 44,902,821(+) GATGC(A/C/G)GCAAG utr-variant-3-prime
rs8079610 -- 44,902,302(+) CCCTC(A/C)CTGTC intron-variant
rs9904512 -- 44,903,736(+) TCATC(C/T)AGAGG downstream-variant-500B
rs10451269 -- 44,902,543(+) ACTGG(C/T)TGATC reference, missense, utr-variant-3-prime
rs11079382 -- 44,901,788(+) ACCAA(C/T)AGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC103 Gene

Variant ID Type Subtype PubMed ID
nsv833457 CNV Loss 17160897
nsv527788 CNV Loss 19592680

Relevant External Links for CCDC103 Gene

HapMap Linkage Disequilibrium report
CCDC103
Human Gene Mutation Database (HGMD)
CCDC103

Disorders for CCDC103 Gene

(1) OMIM Diseases for CCDC103 Gene (614677)

UniProtKB/Swiss-Prot

CC103_HUMAN
  • 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. {ECO:0000269 PubMed:22581229, ECO:0000269 PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for CCDC103 Gene

genes like me logo Genes that share disorders with CCDC103: view

Publications for CCDC103 Gene

  1. CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. (PMID: 22581229) Panizzi J.R. … Drummond I.A. (Nat. Genet. 2012) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3

Products for CCDC103 Gene

Sources for CCDC103 Gene

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