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Aliases for DNAI1 Gene

Aliases for DNAI1 Gene

  • Dynein, Axonemal, Intermediate Chain 1 2 3
  • Dynein, Axonemal, Intermediate Polypeptide 1 2 3
  • CILD1 3 6
  • PCD 3 6
  • Dynein Intermediate Chain 1, Axonemal 3
  • Axonemal Dynein Intermediate Chain 1 4
  • Immotile Cilia Syndrome 1 3
  • DIC1 3
  • ICS1 3
  • ICS 6

External Ids for DNAI1 Gene

Previous GeneCards Identifiers for DNAI1 Gene

  • GC09P034771
  • GC09P034628

Summaries for DNAI1 Gene

Entrez Gene Summary for DNAI1 Gene

  • This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GeneCards Summary for DNAI1 Gene

DNAI1 (Dynein, Axonemal, Intermediate Chain 1) is a Protein Coding gene. Diseases associated with DNAI1 include ciliary dyskinesia, primary, 1, with or without situs inversus and primary ciliary dyskinesia. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include motor activity. An important paralog of this gene is WDR78.

UniProtKB/Swiss-Prot for DNAI1 Gene

  • Part of the dynein complex of respiratory cilia

Gene Wiki entry for DNAI1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAI1 Gene

Genomics for DNAI1 Gene

Regulatory Elements for DNAI1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DNAI1 Gene

Start:
34,457,414 bp from pter
End:
34,520,989 bp from pter
Size:
63,576 bases
Orientation:
Plus strand

Genomic View for DNAI1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DNAI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAI1 Gene

Proteins for DNAI1 Gene

  • Protein details for DNAI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UI46-DNAI1_HUMAN
    Recommended name:
    Dynein intermediate chain 1, axonemal
    Protein Accession:
    Q9UI46
    Secondary Accessions:
    • B7Z7U1
    • Q5T8G7
    • Q8NHQ7
    • Q9UEZ8

    Protein attributes for DNAI1 Gene

    Size:
    699 amino acids
    Molecular mass:
    79283 Da
    Quaternary structure:
    • Consists of at least two heavy chains and a number of intermediate and light chains. Interacts with BICD2.

    Alternative splice isoforms for DNAI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAI1 Gene

Proteomics data for DNAI1 Gene at MOPED

Post-translational modifications for DNAI1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAI1 Gene

No data available for DME Specific Peptides for DNAI1 Gene

Domains for DNAI1 Gene

Gene Families for DNAI1 Gene

HGNC:
  • DN :Axonemal dyneins
  • WDR :WD repeat domain containing

Protein Domains for DNAI1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UI46

UniProtKB/Swiss-Prot:

DNAI1_HUMAN :
  • Q9UI46
Family:
  • Belongs to the dynein intermediate chain family.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with DNAI1: view

Function for DNAI1 Gene

Molecular function for DNAI1 Gene

GENATLAS Biochemistry: dynein axonemal motor protein intermediate chain,homolog of the Chlamydomonas reinhardtii gene IC78 which mutations are associated with the absence of outer dynein arms
UniProtKB/Swiss-Prot Function: Part of the dynein complex of respiratory cilia

Gene Ontology (GO) - Molecular Function for DNAI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0005515 protein binding IPI 23664119
genes like me logo Genes that share ontologies with DNAI1: view
genes like me logo Genes that share phenotypes with DNAI1: view

Animal Models for DNAI1 Gene

MGI Knock Outs for DNAI1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for DNAI1 Gene

Localization for DNAI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAI1 Gene

Cytoplasm, cytoskeleton, cilium axoneme.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DNAI1 Gene COMPARTMENTS Subcellular localization image for DNAI1 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for DNAI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton TAS 10577904
GO:0005874 microtubule IEA --
GO:0005929 cilium IEA --
GO:0030286 dynein complex IEA --
genes like me logo Genes that share ontologies with DNAI1: view

Pathways for DNAI1 Gene

genes like me logo Genes that share pathways with DNAI1: view

Pathways by source for DNAI1 Gene

1 KEGG pathway for DNAI1 Gene

Gene Ontology (GO) - Biological Process for DNAI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003351 epithelial cilium movement --
GO:0008152 metabolic process TAS 10577904
GO:0030030 cell projection organization IEA --
genes like me logo Genes that share ontologies with DNAI1: view

Compounds for DNAI1 Gene

(1) Novoseek inferred chemical compound relationships for DNAI1 Gene

Compound -log(P) Hits PubMed IDs
salicylic acid 38.8 5
genes like me logo Genes that share compounds with DNAI1: view

Transcripts for DNAI1 Gene

Unigene Clusters for DNAI1 Gene

Dynein, axonemal, intermediate chain 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DNAI1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNAI1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^
SP1: - - - - -
SP2: -
SP3: - - - - - -
SP4: - - - -
SP5: - - - - -
SP6: -
SP7: - - - - - - - - - - - - -
SP8: - - - - -
SP9: -
SP10:

ExUns: 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for DNAI1 Gene

GeneLoc Exon Structure for
DNAI1
ECgene alternative splicing isoforms for
DNAI1

Expression for DNAI1 Gene

mRNA expression in normal human tissues for DNAI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNAI1 Gene

This gene is overexpressed in Testis (15.2), Pituitary (10.3), and Fallopian Tube (5.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for DNAI1 Gene

SOURCE GeneReport for Unigene cluster for DNAI1 Gene Hs.112667

genes like me logo Genes that share expressions with DNAI1: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for DNAI1 Gene

Orthologs for DNAI1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNAI1 35
  • 99.28 (n)
  • 98.86 (a)
DNAI1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DNAI1 35
  • 87.97 (n)
  • 87.39 (a)
DNAI1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNAI1 35
  • 89.8 (n)
  • 87.99 (a)
DNAI1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnaic1 35
  • 87.51 (n)
  • 88.57 (a)
Dnaic1 16
Dnaic1 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DNAI1 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAI1 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnai1 35
  • 86.25 (n)
  • 86.25 (a)
chicken
(Gallus gallus)
Aves DNAI1 35
  • 72.19 (n)
  • 70.86 (a)
DNAI1 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNAI1 36
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16599 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17724 35
zebrafish
(Danio rerio)
Actinopterygii dnai1 36
  • 50 (a)
OneToMany
DNAI1 (1 of 2) 36
  • 60 (a)
OneToMany
Dr.15508 35
zgc:158666 35
  • 67.2 (n)
  • 62.5 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008689 35
  • 28.22 (n)
  • 10.62 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9313 35
  • 55.36 (n)
  • 45.61 (a)
CG9313 36
  • 42 (a)
OneToOne
CG9313 37
  • 48 (a)
CG7051 37
  • 27 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4155 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 59 (a)
OneToOne
Species with no ortholog for DNAI1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DNAI1 Gene

ENSEMBL:
Gene Tree for DNAI1 (if available)
TreeFam:
Gene Tree for DNAI1 (if available)

Paralogs for DNAI1 Gene

Paralogs for DNAI1 Gene

Selected SIMAP similar genes for DNAI1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with DNAI1: view

Variants for DNAI1 Gene

Sequence variations from dbSNP and Humsavar for DNAI1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs2447 -- 34,499,990(-) TATGA(A/C)AACAT intron-variant
rs1111375 -- 34,521,150(+) CCCCA(A/G)CCTAG downstream-variant-500B
rs1111457 -- 34,496,026(+) CTCTG(C/T)ATGTT intron-variant
rs1126120 -- 34,472,520(+) CTAAC(A/C)CTGCA intron-variant
rs1328536 -- 34,505,483(+) TCCCT(C/T)TTGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DNAI1 Gene

Variant ID Type Subtype PubMed ID
nsv893037 CNV Gain 21882294
nsv831542 CNV Gain 17160897
nsv831543 CNV Loss 17160897

Relevant External Links for DNAI1 Gene

HapMap Linkage Disequilibrium report
DNAI1
Human Gene Mutation Database (HGMD)
DNAI1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAI1 Gene

Disorders for DNAI1 Gene

(1) OMIM Diseases for DNAI1 Gene (604366)

UniProtKB/Swiss-Prot

DNAI1_HUMAN
  • Ciliary dyskinesia, primary, 1 (CILD1) [MIM:244400]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269 PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Kartagener syndrome (KTGS) [MIM:244400]: An autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera). {ECO:0000269 PubMed:11231901}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for DNAI1 Gene

(3) Novoseek inferred disease relationships for DNAI1 Gene

Disease -log(P) Hits PubMed IDs
kartagener syndrome 88.1 1
situs inversus 85.1 3
retinitis pigmentosa 61.2 1

Relevant External Links for DNAI1

GeneTests
DNAI1
GeneReviews
DNAI1
Genetic Association Database (GAD)
DNAI1
Human Genome Epidemiology (HuGE) Navigator
DNAI1
genes like me logo Genes that share disorders with DNAI1: view

Publications for DNAI1 Gene

  1. Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). (PMID: 11231901) Guichard C. … Bouvagnet P. (Am. J. Hum. Genet. 2001) 3 4 23
  2. Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia. (PMID: 18492703) Zuccarello D. … Foresta C. (Hum. Reprod. 2008) 3 23 48
  3. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. (PMID: 10577904) Pennarun G. … Duriez B. (Am. J. Hum. Genet. 1999) 2 3 4
  4. Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia. (PMID: 11713099) Zariwala M. … Knowles M.R. (Am. J. Respir. Cell Mol. Biol. 2001) 3 23
  5. Phosphoproteome analysis of capacitated human sperm. Evidence of tyrosine phosphorylation of a kinase-anchoring protein 3 and valosin- containing protein/p97 during capacitation. (PMID: 12509440) Ficarro S. … Visconti P.E. (J. Biol. Chem. 2003) 3 4

Products for DNAI1 Gene

Sources for DNAI1 Gene

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