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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 and Kartagener Syndrome. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for DNAI1 Gene

Promoters and enhancers for DNAI1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I034456 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.3 345 2.9 HDGF PKNOX1 ARID4B SIN3A ZNF2 YY1 ZNF143 SP3 ZHX2 MXD4 FAM219A DNAI1 FANCG NUDT2
GH09I034459 Enhancer 0.6 ENCODE 550.8 +1.9 1867 0 HDAC1 ZSCAN26 BCL11B ZNF335 ZNF366 BCL11A IKZF1 NR2C1 NR2F6 NR2C2 FAM219A DNAI1 RN7SKP24
GH09I034341 Enhancer 1 Ensembl ENCODE dbSUPER 10.1 -113.6 -113588 5 FOXA2 NFIA RXRA ZIC2 YY1 OSR2 JUND ATF3 HNF4A SMAD4 NUDT2 MYORG C9orf24 RNU2-50P FAM219A DNAI1 IMPDH1P1 DCAF12 ENSG00000230729 RPP25L
GH09I034363 Enhancer 0.9 Ensembl ENCODE dbSUPER 10.5 -93.1 -93072 2.6 RXRA ZSCAN4 FOXP2 HNF4A ZIC2 ZNF48 FAM219A DNAI1 RPP25L ENSG00000230729 ENSG00000228352 UBAP1 KIF24 MYORG
GH09I034575 Enhancer 0.8 FANTOM5 ENCODE 10.5 +120.8 120814 5.1 ZFHX2 POLR2A ZNF366 ZNF341 REST EZH2 EGR2 GC09P034580 GC09P034579 GALT RPP25L ENSG00000230074 ENHO FAM219A ENSG00000232983 ARID3C CNTFR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DNAI1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DNAI1 gene promoter:

Genomic Locations for DNAI1 Gene

Genomic Locations for DNAI1 Gene
chr9:34,457,414-34,520,989
(GRCh38/hg38)
Size:
63,576 bases
Orientation:
Plus strand
chr9:34,457,412-34,520,982
(GRCh37/hg19)

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

No Post-translational modifications

No data available for DME Specific Peptides for DNAI1 Gene

Domains & Families for DNAI1 Gene

Gene Families for DNAI1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

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 TAS 10577904
GO:0005515 protein binding IPI 23664119
GO:0008574 contributes_to ATP-dependent microtubule motor activity, plus-end-directed IBA --
GO:0045503 dynein light chain binding IBA --
GO:0045504 dynein heavy chain binding IBA --
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:

miRNA for DNAI1 Gene

miRTarBase miRNAs that target DNAI1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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:0005813 centrosome IEA --
GO:0005856 cytoskeleton TAS 10577904
GO:0005874 microtubule IEA --
GO:0005929 cilium TAS 10577904
genes like me logo Genes that share ontologies with DNAI1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DNAI1 Gene

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 IEA,IMP 11231901
GO:0007507 heart development IEA --
GO:0008286 insulin receptor signaling pathway 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 33 34
  • 99.28 (n)
dog
(Canis familiaris)
Mammalia DNAI1 33 34
  • 89.8 (n)
cow
(Bos Taurus)
Mammalia DNAI1 33 34
  • 87.97 (n)
mouse
(Mus musculus)
Mammalia Dnaic1 33 16 34
  • 87.51 (n)
rat
(Rattus norvegicus)
Mammalia Dnai1 33
  • 86.25 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAI1 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAI1 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAI1 33 34
  • 72.19 (n)
lizard
(Anolis carolinensis)
Reptilia DNAI1 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17724 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16599 33
zebrafish
(Danio rerio)
Actinopterygii zgc:158666 33
  • 67.2 (n)
DNAI1 (1 of 2) 34
  • 60 (a)
OneToMany
dnai1 34
  • 50 (a)
OneToMany
Dr.15508 33
fruit fly
(Drosophila melanogaster)
Insecta CG9313 35 33 34
  • 55.36 (n)
CG7051 35
  • 27 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008689 33
  • 28.22 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 59 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4155 33
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 Variation AA Info Type
rs1060503495 pathogenic, Primary ciliary dyskinesia 34,485,216(+) T/ 5_prime_UTR_variant, coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1060503514 uncertain-significance, Primary ciliary dyskinesia 34,489,427(+) T/A 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1060503515 pathogenic, Primary ciliary dyskinesia 34,506,748(+) CCCC/CCC coding_sequence_variant, frameshift, non_coding_transcript_variant
rs11547035 benign, likely-benign, not specified, Primary ciliary dyskinesia 34,459,027(+) G/C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs116938457 uncertain-significance, not specified, Primary ciliary dyskinesia 34,489,431(+) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_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)

Additional Variant Information 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

(9) MalaCards diseases for DNAI1 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 1
  • pcd
kartagener syndrome
  • kartagener's syndrome
primary ciliary dyskinesia
  • ciliary motility disorder
situs inversus
  • situs inversus viscerum
bronchiectasis
  • polynesian bronchiectasis
- 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.

Additional Disease Information for DNAI1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Human reproduction (Oxford, England) 2008) 3 22 44 58
  2. Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). (PMID: 11231901) Guichard C … Bouvagnet P (American journal of human genetics 2001) 3 4 22 58
  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 (American journal of human genetics 1999) 2 3 4 58
  4. Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. (PMID: 23664119) Peeters K … Jordanova A (American journal of human genetics 2013) 3 4 58
  5. A unified taxonomy for ciliary dyneins. (PMID: 21953912) Hom EF … King SM (Cytoskeleton (Hoboken, N.J.) 2011) 2 3 58

Products for DNAI1 Gene

Sources for DNAI1 Gene

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