CCDC151

CCDC151
Identifiers
Aliases	CCDC151, CILD30, coiled-coil domain containing 151, ODA10
External IDs	OMIM: 615956 MGI: 1924859 HomoloGene: 16533 GeneCards: CCDC151
Gene location (Human)
Chr.	Chromosome 19 (human)[1]
End	11,435,782 bp[1]
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)[2]
End	22,002,634 bp[2]
Gene ontology
Molecular function	• GO:0001948 protein binding;
Cellular component	• cytoplasm; • ciliary basal body; • centriole; • GO:0035085 axoneme; • cell projection; • cilium; • cytoskeleton;
Biological process	• regulation of cilium assembly; • determination of left/right symmetry; • outer dynein arm assembly; • cell projection organization; • axonemal dynein complex assembly; • cilium movement;
	Sources:Amigo / QuickGO
Orthologs
	115948
	77609
	ENSG00000198003
	ENSMUSG00000039632
	A5D8V7
	Q8BSN3
	NM_145045; NM_001302453; NM_001302454
	NM_001163787; NM_029939
	NP_001289382; NP_001289383; NP_659482
	NP_001157259; NP_084215
	Wikidata
View/Edit Human	View/Edit Mouse

Coiled-coil domain containing 151 is a protein that in humans is encoded by the CCDC151 gene.[5]

Clinical significance

Mutations in CCDC151 are associated to Primary ciliary dyskinesia.[6]

GRCh38: Ensembl release 89: ENSG00000198003 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000039632 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: Coiled-coil domain containing 151".
Alsaadi MM, Erzurumluoglu AM, Rodriguez S, Guthrie PA, Gaunt TR, Omar HZ, Mubarak M, Alharbi KK, Al-Rikabi AC, Day IN (December 2014). "Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia". Human Mutation. 35 (12): 1446–8. doi:10.1002/humu.22698. PMC 4489323. PMID 25224326.

Human CCDC151 genome location and CCDC151 gene details page in the UCSC Genome Browser.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.