Property Summary

NCBI Gene PubMed Count 6
Grant Count 4
R01 Count 4
Funding $229,557
PubMed Score 6.22
PubTator Score 7.33

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

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.