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Aliases for DNAI1 Gene

Aliases for DNAI1 Gene

  • Dynein Axonemal Intermediate Chain 1 2 3 5
  • Dynein, Axonemal, Intermediate Polypeptide 1 2 3
  • Testis Tissue Sperm-Binding Protein Li 87P 3
  • Dynein Intermediate Chain 1, Axonemal 3
  • Axonemal Dynein Intermediate Chain 1 4
  • Immotile Cilia Syndrome 1 3
  • CILD1 3
  • DIC1 3
  • ICS1 3
  • PCD 3

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 Kartagener Syndrome. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAI1 Gene

Genomics for DNAI1 Gene

Regulatory Elements for DNAI1 Gene

Enhancers for DNAI1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G034341 1.2 Ensembl ENCODE dbSUPER 10.1 -113.6 -113588 5.0 NFIA CEBPG ZIC2 NR2F2 YY1 OSR2 JUND ATF3 HNF4A SMAD4 NUDT2 KIAA1161 C9orf24 RNU2-50P DNAI1 FAM219A IMPDH1P1 DCAF12 ENSG00000230729 RPP25L
GH09G034363 1.1 Ensembl ENCODE dbSUPER 10.5 -93.1 -93072 2.6 ZSCAN4 FOXP2 RBBP5 HNF4A ZIC2 ZNF48 TRIM28 DNAI1 FAM219A RPP25L ENSG00000230729 ENSG00000228352 UBAP1 KIF24 KIAA1161
GH09G034575 1 FANTOM5 ENCODE 10.5 +120.8 120814 5.1 ZNF263 CTCF RNF2 SUZ12 CBX2 RBBP5 REST JUND ZFHX2 POLR2A GALT RPP25L ENSG00000230074 ENHO FAM219A ENSG00000232983 ARID3C CNTFR ENSG00000230729 SIGMAR1
GH09G034346 0.9 ENCODE dbSUPER 10.1 -110.0 -109986 1.2 SCRT1 MAX ZNF384 ZNF48 NR2F2 YY1 JUND ATF3 SCRT2 HNF4G KIAA1161 C9orf24 RNU2-50P DNAI1 FAM219A IMPDH1P1 DCAF12 ENSG00000230729 RPP25L KIF24
GH09G034512 0.8 ENCODE 11.2 +55.7 55696 0.8 FOXA2 RAD21 THRB RARA ZNF335 TCF12 HMG20B NFIL3 MIER3 KLF16 CNTFR FAM219A DNAI1 RPP25L ARID3C GALT SIGMAR1 PIR54959 RN7SKP24
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DNAI1 on UCSC Golden Path with GeneCards custom track

Promoters for DNAI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000234532 786 1601 HDGF PKNOX1 ARID4B SIN3A ZNF2 YY1 ZNF143 FOS ZNF263 SP3

Genomic Location for DNAI1 Gene

Chromosome:
9
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

Genes around DNAI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for DNAI1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DNAI1 Gene

Domains & Families for DNAI1 Gene

Gene Families for DNAI1 Gene

Protein Domains for DNAI1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UI46

UniProtKB/Swiss-Prot:

DNAI1_HUMAN :
  • Belongs to the dynein intermediate chain family.
Family:
  • Belongs to the dynein intermediate chain family.
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,TAS --
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

Human Phenotype Ontology for DNAI1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DNAI1 Gene

MGI Knock Outs for DNAI1:

Animal Model Products

miRNA for DNAI1 Gene

miRTarBase miRNAs that target DNAI1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNAI1 gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 4

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 TAS 10577904
GO:0030286 dynein complex IEA --
genes like me logo Genes that share ontologies with DNAI1: view

Pathways & Interactions 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:0003341 cilium movement IMP 11231901
GO:0003351 epithelial cilium movement IEA --
GO:0007368 determination of left/right symmetry IMP,IEA 11231901
GO:0007507 heart development IEA --
GO:0030030 cell projection organization IEA --
genes like me logo Genes that share ontologies with DNAI1: view

No data available for SIGNOR curated interactions for DNAI1 Gene

Drugs & Compounds for DNAI1 Gene

(1) Drugs for DNAI1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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:

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x15.2), Pituitary (x10.3), and Fallopian Tube (x5.2).

Protein differential expression in normal tissues from HIPED for DNAI1 Gene

This gene is overexpressed in Testis (49.5) and Ovary (19.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DNAI1 Gene



Protein tissue co-expression partners for DNAI1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DNAI1 Gene:

DNAI1

SOURCE GeneReport for Unigene cluster for DNAI1 Gene:

Hs.112667

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAI1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • lung
  • trachea
Abdomen:
  • spleen
Pelvis:
  • ovary
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns with DNAI1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES 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 34 35
  • 99.28 (n)
dog
(Canis familiaris)
Mammalia DNAI1 34 35
  • 89.8 (n)
cow
(Bos Taurus)
Mammalia DNAI1 34 35
  • 87.97 (n)
mouse
(Mus musculus)
Mammalia Dnaic1 34 16 35
  • 87.51 (n)
rat
(Rattus norvegicus)
Mammalia Dnai1 34
  • 86.25 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAI1 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAI1 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAI1 34 35
  • 72.19 (n)
lizard
(Anolis carolinensis)
Reptilia DNAI1 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17724 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.16599 34
zebrafish
(Danio rerio)
Actinopterygii zgc:158666 34
  • 67.2 (n)
DNAI1 (1 of 2) 35
  • 60 (a)
OneToMany
dnai1 35
  • 50 (a)
OneToMany
Dr.15508 34
fruit fly
(Drosophila melanogaster)
Insecta CG9313 36 34 35
  • 55.36 (n)
CG7051 36
  • 27 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008689 34
  • 28.22 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 59 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4155 34
Species where no ortholog for DNAI1 was found in the sources mined by GeneCards:
  • 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

(2) 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
rs79833450 Pathogenic, Kartagener syndrome (KTGS) [MIM:244400] 34,513,165(+) TAGTG(A/G)GCACA intron-variant, nc-transcript-variant, reference, missense
rs200669099 Pathogenic 34,514,468(+) TCCTG(A/G)AACCC intron-variant, reference, stop-gained
rs376252276 Pathogenic 34,513,112(+) CCAAG(A/G/T)TTGTG intron-variant, nc-transcript-variant, reference, missense
rs397515363 Pathogenic 34,459,055(+) CAGGT(-/T)AACGT upstream-variant-2KB, splice-donor-variant
rs397515563 Pathogenic 34,517,468(+) CAAAG(A/G)TACAG downstream-variant-500B, splice-donor-variant

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

Variant ID Type Subtype PubMed ID
esv3620335 CNV gain 21293372
nsv1015595 CNV gain 25217958
nsv1125318 OTHER inversion 24896259
nsv831542 CNV gain 17160897
nsv831543 CNV loss 17160897

Variation tolerance for DNAI1 Gene

Residual Variation Intolerance Score: 68.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.77; 86.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNAI1 Gene

Human Gene Mutation Database (HGMD)
DNAI1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAI1

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

Disorders for DNAI1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for DNAI1 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DNAI1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for DNAI1

Genetic Association Database (GAD)
DNAI1
Human Genome Epidemiology (HuGE) Navigator
DNAI1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAI1
genes like me logo Genes that share disorders with DNAI1: view

No data available for Genatlas for DNAI1 Gene

Publications for DNAI1 Gene

  1. Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia. (PMID: 18492703) Zuccarello D. … Foresta C. (Hum. Reprod. 2008) 3 22 46 64
  2. 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 22 64
  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 64
  4. Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. (PMID: 23664119) Peeters K. … Jordanova A. (Am. J. Hum. Genet. 2013) 3 4 64
  5. A unified taxonomy for ciliary dyneins. (PMID: 21953912) Hom E.F. … King S.M. (Cytoskeleton (Hoboken) 2011) 2 3 64

Products for DNAI1 Gene

Sources for DNAI1 Gene

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