Property Summary

NCBI Gene PubMed Count 6
PubMed Score 6.22
PubTator Score 7.33

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Synonym

Accession Q8N9W5 A8MUY0 E3W9A1 E9PAX5 Q6P4F6 Q8N9W0 Q96AR2
Symbols PCD
DAB1
PF22
CILD2
C19orf51

Gene

  Ortholog (5)

Species Source
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Cow OMA Inparanoid
Fruitfly OMA Inparanoid

Pathway (1)

Gene RIF (1)

PMID Text
22387996 study identified loss-of-function mutations in the human DNAAF3 gene in individuals from families with situs inversus and defects in the assembly of inner and outer dynein arm

AA Sequence

MTTPAGSGSGFGSVSWWGLSPALDLQAESPPVDPDSQADTVHSNPELDVLLLGSVDGRHLLRTLSRAKFW      1 - 70
PRRRFNFFVLENNLEAVARHMLIFSLALEEPEKMGLQERSETFLEVWGNALLRPPVAAFVRAQADLLAHL     71 - 140
VPEPDRLEEQLPWLSLRALKFRERDALEAVFRFWAGGEKGPQAFPMSRLWDSRLRHYLGSRYDARRGVSD    141 - 210
WDLRMKLHDRGAQVIHPQEFRRWRDTGVAFELRDSSAYHVPNRTLASGRLLSYRGERVAARGYWGDIATG    211 - 280
PFVAFGIEADDESLLRTSNGQPVKTAGEITQHNVTELLRDVAAWGRARATGGDLEEQQHAEGSPEPGTPA    281 - 350
APTPESFTVHFLPLDSAQTLHHKSCYNGRFQLLYVACGMVHLLIPELGACVAPGGNLIVELARYLVDVRQ    351 - 420
EQLQGFNTRVRELAQAAGFAPQTGARPSETFARFCKSQESALGNTVPAVEPGTPPLDILAQPLEASNPAL    421 - 490
EGLTQPLQGGTPHCEPCQLPSESPGSLSEVLAQPQGALAPPNCESDSKTGV                       491 - 541
//

Text Mined References (7)

PMID Year Title
22387996 2012 Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
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).
15057824 2004 The DNA sequence and biology of human chromosome 19.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10745040 2000 A locus for primary ciliary dyskinesia maps to chromosome 19q.