Property Summary

NCBI Gene PubMed Count 25
PubMed Score 67.91
PubTator Score 39.19

Knowledge Summary

Patent

No data available

TINX Plot

Expression

  Differential Expression (3)

Disease log2 FC p
posterior fossa group B ependymoma 2.500 9.0e-13
nasopharyngeal carcinoma -1.400 5.5e-08
psoriasis -1.500 1.6e-09

Gene RIF (7)

PMID Text
21143860 The worldwide involvement of DNAI1 mutations in PCD pathogenesis in families not preselected for ODA defects ranges from 7 to 10%.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19300264 Two dynein genes, encoding ODA intermediate chain (DNAI1) and heavy chain (DNAH5), have been seen to be mutated in approximately 30-38% of the families
18492703 Male carriers of the mutations always exhibit asthenozoospermia, whereas female carriers manifest no alterations in either fertility or pulmonary clearance.
18492703 Observational study of gene-disease association. (HuGE Navigator)
18434704 DNAI1 gene mutation is not a common cause of primary ciliary dyskinesia.
16858015 A total of 10% of patients with PCD are estimated to harbor mutations in DNAI1; most occur as a common founder IVS1+2_3insT or in exons 13, 16, and 17.

AA Sequence

MIPASAKAPHKQPHKQSISIGRGTRKRDEDSGTEVGEGTDEWAQSKATVRPPDQLELTDAELKEEFTRIL      1 - 70
TANNPHAPQNIVRYSFKEGTYKPIGFVNQLAVHYTQVGNLIPKDSDEGRRQHYRDELVAGSQESVKVISE     71 - 140
TGNLEEDEEPKELETEPGSQTDVPAAGAAEKVTEEELMTPKQPKERKLTNQFNFSERASQTYNNPVRDRE    141 - 210
CQTEPPPRTNFSATANQWEIYDAYVEELEKQEKTKEKEKAKTPVAKKSGKMAMRKLTSMESQTDDLIKLS    211 - 280
QAAKIMERMVNQNTYDDIAQDFKYYDDAADEYRDQVGTLLPLWKFQNDKAKRLSVTALCWNPKYRDLFAV    281 - 350
GYGSYDFMKQSRGMLLLYSLKNPSFPEYMFSSNSGVMCLDIHVDHPYLVAVGHYDGNVAIYNLKKPHSQP    351 - 420
SFCSSAKSGKHSDPVWQVKWQKDDMDQNLNFFSVSSDGRIVSWTLVKRKLVHIDVIKLKVEGSTTEVPEG    421 - 490
LQLHPVGCGTAFDFHKEIDYMFLVGTEEGKIYKCSKSYSSQFLDTYDAHNMSVDTVSWNPYHTKVFMSCS    491 - 560
SDWTVKIWDHTIKTPMFIYDLNSAVGDVAWAPYSSTVFAAVTTDGKAHIFDLAINKYEAICNQPVAAKKN    561 - 630
RLTHVQFNLIHPIIIVGDDRGHIISLKLSPNLRKMPKEKKGQEVQKGPAVEIAKLDKLLNLVREVKIKT     631 - 699
//

Text Mined References (25)

PMID Year Title
25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
23664119 2013 Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.
22499950 2012 High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.
21953912 2011 A unified taxonomy for ciliary dyneins.
21143860 2010 Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19300264 2009 Primary ciliary dyskinesia: improving the diagnostic approach.
18950741 2008 DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.
18492703 2008 Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia.
18434704 2008 DNAI1 mutations explain only 2% of primary ciliary dykinesia.
17515466 2007 Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia.
16858015 2006 Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15750039 2005 Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164053 2004 DNA sequence and analysis of human chromosome 9.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12509440 2003 Phosphoproteome analysis of capacitated human sperm. Evidence of tyrosine phosphorylation of a kinase-anchoring protein 3 and valosin-containing protein/p97 during capacitation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11893720 2002 Mutations in DNAI1 (IC78) cause primary ciliary dyskinesia.
11889140 2002 Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function.
11713099 2001 Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.
11231901 2001 Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).
10577904 1999 Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.
1601418 1992 HLA haplotype segregation and ultrastructural study in familial immotile-cilia syndrome.