Property Summary

NCBI Gene PubMed Count 25
PubMed Score 67.91
PubTator Score 39.19

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count
Kartagener Syndrome 32
Disease Target Count P-value
posterior fossa group B ependymoma 1530 8.99468395442914E-13
psoriasis 6685 1.60691053475728E-9
nasopharyngeal carcinoma 1056 5.5072326885718E-8
Disease Target Count Z-score Confidence
Rheumatoid Arthritis 1171 0.0 1.0
Disease Target Count Z-score Confidence
Situs Inversus 52 5.372 2.7
Bronchiectasis 29 4.095 2.0
Male infertility 170 3.742 1.9

Expression

  Differential Expression (3)

Disease log2 FC p
posterior fossa group B ependymoma 2.500 0.000
nasopharyngeal carcinoma -1.400 0.000
psoriasis -1.500 0.000

Synonym

Accession Q9UI46 B7Z7U1 Q5T8G7 Q8NHQ7 Q9UEZ8
Symbols PCD
DIC1
ICS1
CILD1

Gene

  Ortholog (9)

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.
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