Property Summary

NCBI Gene PubMed Count 10
Grant Count 11
R01 Count 3
Funding $4,088,271.75
PubMed Score 1.00
PubTator Score 5.25

Knowledge Summary

Patent

No data available

TINX Plot

Gene RIF (2)

PMID Text
26123568 A variable and complex phenotype caused by the co-inheritance of a single gene mutation in CCDC103 and a microduplication at 17q12, both on chromosome 17.
22581229 These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated.

AA Sequence

MERNDIINFKALEKELQAALTADEKYKRENAAKLRAVEQRVASYEEFRGIVLASHLKPLERKDKMGGKRT      1 - 70
VPWNCHTIQGRTFQDVATEISPEKAPLQPETSADFYRDWRRHLPSGPERYQALLQLGGPRLGCLFQTDVG     71 - 140
FGLLGELLVALADHVGPADRAAVLGILCSLASTGRFTLNLSLLSRAERESCKGLFQKLQAMGNPRSVKEG    141 - 210
LSWEEQGLEEQSGGLQEEERLLQELLELYQVD                                          211 - 242
//

Text Mined References (11)

PMID Year Title
26123568 2015 A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.
25416956 2014 A proteome-scale map of the human interactome network.
25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
23872636 2013 DYX1C1 is required for axonemal dynein assembly and ciliary motility.
22581229 2012 CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
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