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Aliases for DNALI1 Gene

Aliases for DNALI1 Gene

  • Dynein Axonemal Light Intermediate Chain 1 2 3
  • Dynein, Axonemal, Light Intermediate Polypeptide 1 2 3
  • DJ423B22.5 (Axonemal Dynein Light Chain (Hp28)) 2 3
  • Dynein, Axonemal, Light Intermediate Chain 1 3 5
  • Inner Dynein Arm Light Chain, Axonemal 3 4
  • Hp28 3 4
  • Inner Dynein Arm, Homolog Of Clamydomonas 3
  • Homolog Of Clamydomonas 2
  • Inner Dynein Arm 2
  • DJ423B22.5 3
  • P28 3

External Ids for DNALI1 Gene

Previous GeneCards Identifiers for DNALI1 Gene

  • GC01P037857
  • GC01P037077
  • GC01P037449
  • GC01P037451
  • GC01P037452
  • GC01P037691
  • GC01P038023
  • GC01P036139

Summaries for DNALI1 Gene

Entrez Gene Summary for DNALI1 Gene

  • This gene is the human homolog of the Chlamydomonas inner dynein arm gene, p28. The precise function of this gene is not known, however, it is a potential candidate for immotile cilia syndrome (ICS). Ultrastructural defects of the inner dynein arms are seen in patients with ICS. Immotile mutant strains of Chlamydomonas, a biflagellated algae, exhibit similar defects. [provided by RefSeq, Jul 2008]

GeneCards Summary for DNALI1 Gene

DNALI1 (Dynein Axonemal Light Intermediate Chain 1) is a Protein Coding gene. Diseases associated with DNALI1 include 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 microtubule motor activity and dynein heavy chain binding.

UniProtKB/Swiss-Prot for DNALI1 Gene

  • May play a dynamic role in flagellar motility.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNALI1 Gene

Genomics for DNALI1 Gene

Regulatory Elements for DNALI1 Gene

Enhancers for DNALI1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DNALI1 on UCSC Golden Path with GeneCards custom track

Promoters for DNALI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DNALI1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DNALI1 Gene

Chromosome:
1
Start:
37,556,919 bp from pter
End:
37,566,857 bp from pter
Size:
9,939 bases
Orientation:
Plus strand

Genomic View for DNALI1 Gene

Genes around DNALI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNALI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNALI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNALI1 Gene

Proteins for DNALI1 Gene

  • Protein details for DNALI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14645-IDLC_HUMAN
    Recommended name:
    Axonemal dynein light intermediate polypeptide 1
    Protein Accession:
    O14645
    Secondary Accessions:
    • A8K387
    • B4DHN6
    • Q05BL9
    • Q5HYE2
    • Q5TGH0
    • Q7L0I5

    Protein attributes for DNALI1 Gene

    Size:
    258 amino acids
    Molecular mass:
    29662 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB69193.1; Type=Frameshift; Positions=7, 28, 94, 125, 139, 153; Evidence={ECO:0000305}; Sequence=CAI20553.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAI46082.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for DNALI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNALI1 Gene

Proteomics data for DNALI1 Gene at MOPED

Post-translational modifications for DNALI1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNALI1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for DNALI1 Gene

Domains & Families for DNALI1 Gene

Gene Families for DNALI1 Gene

Protein Domains for DNALI1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DNALI1 Gene

Graphical View of Domain Structure for InterPro Entry

O14645

UniProtKB/Swiss-Prot:

IDLC_HUMAN :
  • Belongs to the inner dynein arm light chain family.
Family:
  • Belongs to the inner dynein arm light chain family.
genes like me logo Genes that share domains with DNALI1: view

Function for DNALI1 Gene

Molecular function for DNALI1 Gene

UniProtKB/Swiss-Prot Function:
May play a dynamic role in flagellar motility.

Gene Ontology (GO) - Molecular Function for DNALI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15383276
genes like me logo Genes that share ontologies with DNALI1: view
genes like me logo Genes that share phenotypes with DNALI1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DNALI1 Gene

Localization for DNALI1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DNALI1 Gene COMPARTMENTS Subcellular localization image for DNALI1 gene
Compartment Confidence
cytoskeleton 5
cytosol 2
extracellular 2
mitochondrion 1
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for DNALI1 Gene

Pathways & Interactions for DNALI1 Gene

genes like me logo Genes that share pathways with DNALI1: view

Pathways by source for DNALI1 Gene

1 KEGG pathway for DNALI1 Gene

Gene Ontology (GO) - Biological Process for DNALI1 Gene

None

No data available for SIGNOR curated interactions for DNALI1 Gene

Drugs & Compounds for DNALI1 Gene

No Compound Related Data Available

Transcripts for DNALI1 Gene

Unigene Clusters for DNALI1 Gene

Dynein, axonemal, light intermediate chain 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DNALI1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c
SP1: - - -
SP2: - - - - -
SP3: - - - -
SP4: -
SP5:
SP6:

Relevant External Links for DNALI1 Gene

GeneLoc Exon Structure for
DNALI1
ECgene alternative splicing isoforms for
DNALI1

Expression for DNALI1 Gene

mRNA expression in normal human tissues for DNALI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNALI1 Gene

This gene is overexpressed in Testis (x8.9).

Protein differential expression in normal tissues from HIPED for DNALI1 Gene

This gene is overexpressed in Breast (37.7), Testis (23.7), and Ovary (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DNALI1 Gene



SOURCE GeneReport for Unigene cluster for DNALI1 Gene Hs.406050

mRNA Expression by UniProt/SwissProt for DNALI1 Gene

O14645-IDLC_HUMAN
Tissue specificity: Expressed in many tissues. A smaller 0.9 kb and a larger 2.5 kb transcripts were detected at the highest level in the testis, at medium levels in the prostate, heart, liver, lung and pancreas, at low levels in the ovary, skeletal muscle and small intestine. Not detected in spleen, colon epithelium, thymus or peripheral blood leukocytes. The 0.9 kb transcript is expressed at a 20-fold higher level than the 2.5 kb transcript in the testis.
genes like me logo Genes that share expression patterns with DNALI1: view

Protein tissue co-expression partners for DNALI1 Gene

- Elite partner

Primer Products

Orthologs for DNALI1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNALI1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DNALI1 35
  • 91.73 (n)
  • 98.06 (a)
DNALI1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNALI1 35
  • 90.36 (n)
  • 93.17 (a)
DNALI1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnali1 35
  • 89.66 (n)
  • 95.74 (a)
Dnali1 16
Dnali1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DNALI1 35
  • 99.64 (n)
  • 100 (a)
DNALI1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnali1 35
  • 89.66 (n)
  • 96.9 (a)
oppossum
(Monodelphis domestica)
Mammalia DNALI1 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNALI1 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNALI1 35
  • 73.46 (n)
  • 77.65 (a)
DNALI1 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNALI1 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnali1 35
  • 72.97 (n)
  • 85.43 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16772 35
zebrafish
(Danio rerio)
Actinopterygii dnali1 35
  • 72.18 (n)
  • 76.77 (a)
dnali1 36
  • 76 (a)
OneToMany
dnali1 36
  • 76 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG6971 37
  • 49 (a)
CG6971 35
  • 58.37 (n)
  • 60.34 (a)
CG6971 36
  • 57 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004030 35
  • 61.27 (n)
  • 61.41 (a)
worm
(Caenorhabditis elegans)
Secernentea dyla-1 36
  • 31 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5036 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7082 36
  • 80 (a)
OneToOne
Species with no ortholog for DNALI1:
  • 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)

Evolution for DNALI1 Gene

ENSEMBL:
Gene Tree for DNALI1 (if available)
TreeFam:
Gene Tree for DNALI1 (if available)

Paralogs for DNALI1 Gene

No data available for Paralogs for DNALI1 Gene

Variants for DNALI1 Gene

Sequence variations from dbSNP and Humsavar for DNALI1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs11749 - 37,557,715(+) GCAGG(C/G/T)AGAAG reference, missense, utr-variant-5-prime
VAR_035701 A colorectal cancer sample
rs6619 -- 37,565,095(+) GACAC(C/T)TGGGA utr-variant-3-prime
rs177346 -- 37,564,064(+) cccat(C/T)tctac intron-variant
rs215198 -- 37,563,965(+) gtggt(A/G)gctca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DNALI1 Gene

Variant ID Type Subtype PubMed ID
nsv483134 CNV Loss 15286789
nsv524834 CNV Gain 19592680
nsv834746 CNV Loss 17160897

Variation tolerance for DNALI1 Gene

Residual Variation Intolerance Score: 22.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.38; 85.49% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for DNALI1 Gene

Disorders for DNALI1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DNALI1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
primary ciliary dyskinesia
  • kartagener syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DNALI1

Genetic Association Database (GAD)
DNALI1
Human Genome Epidemiology (HuGE) Navigator
DNALI1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNALI1
genes like me logo Genes that share disorders with DNALI1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNALI1 Gene

Publications for DNALI1 Gene

  1. Complementary deoxyribonucleic acid cloning and characterization of a putative human axonemal dynein light chain gene. (PMID: 9284741) Kastury K. … Bhasin S. (J. Clin. Endocrinol. Metab. 1997) 2 3 4 23 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  3. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M. … Stelzl U. (Nat. Methods 2013) 3
  4. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. (PMID: 23849778) Hjeij R. … Omran H. (Am. J. Hum. Genet. 2013) 3
  5. Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. (PMID: 24144296) Cheng C.Y. … Baird P.N. (Am. J. Hum. Genet. 2013) 3

Products for DNALI1 Gene

Sources for DNALI1 Gene

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