C14orf104

From Wikipedia, the free encyclopedia

Dynein, axonemal, assembly factor 2

Identifiers

DNAAF2; C14orf104; CILD10; KTU; PF13

External IDs

OMIM: 612517 MGI: 1923566 HomoloGene: 10026 GeneCards: DNAAF2 Gene

Gene Ontology
Molecular function	• protein binding
Cellular component	• cytoplasm
Biological process	• response to retinoic acid • ciliary cell motility • flagellar cell motility • axonemal dynein complex assembly
Sources: Amigo / QuickGO

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 14:
50.09 – 50.1 Mb

Chr 12:
69.19 – 69.2 Mb

PubMed search

Chromosome 14 open reading frame 104, also known as kintoun, is a protein that in humans is encode by the KTU gene.^[1]^[2] The now official name is DNAAF2

Function

Kintoun is a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for ciliogenesis.<ref name="entrez"/

Clinical significance

Mutations in the C14orf104 are associated with primary ciliary dyskinesia.^[3]

References

↑ "Entrez Gene: chromosome 14 open reading frame 104".
↑ Omran H, Kobayashi D, Olbrich H, Tsukahara T, Loges NT, Hagiwara H, Zhang Q, Leblond G, O'Toole E, Hara C, Mizuno H, Kawano H, Fliegauf M, Yagi T, Koshida S, Miyawaki A, Zentgraf H, Seithe H, Reinhardt R, Watanabe Y, Kamiya R, Mitchell DR, Takeda H (December 2008). "Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins". Nature 456 (7222): 611–6. doi:10.1038/nature07471. PMID 19052621.
↑ Online 'Mendelian Inheritance in Man' (OMIM) 612517

External links

GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia

v t e Ciliary proteins

Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L

Basal body	BBsome BBS1 BBS2 BBS4 BBS5 BBS7 TTC8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1

Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67

Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1

Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B

Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3

see also: ciliopathy B strc: edmb (perx), skel (ctrs), epit, cili, mito, nucl (chro)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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