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 ... See more...

Aliases for DNALI1 Gene

Aliases for DNALI1 Gene

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

External Ids for DNALI1 Gene

Previous GeneCards Identifiers for DNALI1 Gene

  • GC01P037857
  • GC01P037077
  • GC01P037449
  • GC01P037451
  • GC01P037452
  • GC01P037691
  • GC01P038023
  • GC01P036139
  • GC01P037557
  • GC01P037560

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 Osteogenesis Imperfecta, Type Xi and Primary Ciliary Dyskinesia. 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 microtubule motor activity and dynein heavy chain binding.

UniProtKB/Swiss-Prot Summary for DNALI1 Gene

Additional gene information for DNALI1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNALI1 Gene

Genomics for DNALI1 Gene

GeneHancer (GH) Regulatory Elements for DNALI1 Gene

Promoters and enhancers for DNALI1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNALI1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNALI1

Top Transcription factor binding sites by QIAGEN in the DNALI1 gene promoter:
  • AP-1
  • FAC1
  • FOXO4
  • GR
  • GR-alpha
  • HNF-3beta
  • Nkx2-5
  • p53

Genomic Locations for DNALI1 Gene

Genomic Locations for DNALI1 Gene
chr1:37,556,919-37,566,857
(GRCh38/hg38)
Size:
9,939 bases
Orientation:
Plus strand
chr1:38,022,520-38,032,458
(GRCh37/hg19)
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; Evidence={ECO:0000305}; Sequence=CAI46082.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for DNALI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNALI1 Gene

Post-translational modifications for DNALI1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNALI1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DNALI1 Gene

Domains & Families for DNALI1 Gene

Gene Families for DNALI1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DNALI1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DNALI1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57932, highly similar to Axonemal dynein light intermediate polypeptide1 (B4DHN6_HUMAN)
  • hp28 (IDLC_HUMAN)

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.

Phenotypes From GWAS Catalog for DNALI1 Gene

Gene Ontology (GO) - Molecular Function for DNALI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0005515 protein binding IPI 15383276
GO:0045504 dynein heavy chain binding IBA,IPI 21873635
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

CRISPR Products

Clone 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 UniProtKB/Swiss-Prot for DNALI1 Gene

Cell projection, cilium.

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 DNALI1 gene
Compartment Confidence
cytoskeleton 4
extracellular 2
nucleus 2
cytosol 2
plasma membrane 1
mitochondrion 0

Gene Ontology (GO) - Cellular Components for DNALI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 19944400
GO:0005929 cilium IDA,IEA 27120127
GO:0005930 axoneme IDA 23849778
GO:0030175 filopodium IDA,IBA 21873635
GO:0030286 dynein complex IEA --
genes like me logo Genes that share ontologies with DNALI1: view

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

mRNA/cDNA for DNALI1 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

Expression for DNALI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for DNALI1 Gene



Protein tissue co-expression partners for DNALI1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNALI1

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.

Evidence on tissue expression from TISSUES for DNALI1 Gene

  • Lung(4.5)
  • Nervous system(4.5)
  • Spleen(4)
  • Pancreas(2.3)
genes like me logo Genes that share expression patterns with DNALI1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DNALI1 Gene

Orthologs for DNALI1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNALI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNALI1 31 30
  • 99.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DNALI1 31 30
  • 91.73 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DNALI1 31 30
  • 90.36 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dnali1 17 31 30
  • 89.66 (n)
rat
(Rattus norvegicus)
Mammalia Dnali1 30
  • 89.66 (n)
oppossum
(Monodelphis domestica)
Mammalia DNALI1 31
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNALI1 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNALI1 31 30
  • 73.46 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNALI1 31
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnali1 30
  • 72.97 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16772 30
zebrafish
(Danio rerio)
Actinopterygii dnali1 31 31
  • 76 (a)
OneToMany
LOC100536814 30
  • 72.18 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004030 30
  • 61.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6971 31 32 30
  • 58.37 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dyla-1 31
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7082 31
  • 80 (a)
OneToOne
Cin.5036 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5036 30
Species where no ortholog for DNALI1 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)

Evolution for DNALI1 Gene

ENSEMBL:
Gene Tree for DNALI1 (if available)
TreeFam:
Gene Tree for DNALI1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNALI1: view image

Paralogs for DNALI1 Gene

No data available for Paralogs for DNALI1 Gene

Variants for DNALI1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNALI1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
709356 Benign: not provided 37,562,195(+) A/C MISSENSE_VARIANT
711827 Benign: not provided 37,562,255(+) G/A INTRON_VARIANT
728924 Benign: not provided 37,557,021(+) C/G SYNONYMOUS_VARIANT
742079 Likely Benign: not provided 37,556,952(+) C/T FIVE_PRIME_UTR_VARIANT
769510 Benign: not provided 37,562,090(+) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for DNALI1 Gene

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

Variant ID Type Subtype PubMed ID
nsv524834 CNV gain 19592680
nsv834746 CNV loss 17160897
nsv945883 CNV duplication 23825009

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)

Additional Variant Information for DNALI1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNALI1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNALI1 Gene

Disorders for DNALI1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
osteogenesis imperfecta, type xi
  • oi11
primary ciliary dyskinesia
  • pcd
huntington disease
  • hd
visceral heterotaxy
  • heterotaxia
kartagener syndrome
  • kartagener's syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DNALI1

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 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 (The Journal of clinical endocrinology and metabolism 1997) 2 3 4 23 54
  2. Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization. (PMID: 27120127) Jeanson L … Legendre M (Human mutation 2016) 3 4 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for DNALI1 Gene

Sources for DNALI1 Gene