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    DNALI1 dynein axonemal light intermediate chain 1 [ Homo sapiens (human) ]

    Gene ID: 7802, updated on 21-Apr-2019

    Summary

    Official Symbol
    DNALI1provided by HGNC
    Official Full Name
    dynein axonemal light intermediate chain 1provided by HGNC
    Primary source
    HGNC:HGNC:14353
    See related
    Ensembl:ENSG00000163879 MIM:602135
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P28; hp28; dJ423B22.5
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 23.5), ovary (RPKM 8.6) and 16 other tissues See more
    Orthologs

    Genomic context

    See DNALI1 in Genome Data Viewer
    Location:
    1p34.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (37556919..37566857)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (38022520..38032458)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Smad nuclear interacting protein 1 Neighboring gene ferritin heavy chain 1 pseudogene 1 Neighboring gene ribosomal protein S27 pseudogene 9 Neighboring gene G protein nucleolar 2 Neighboring gene R-spondin 1 Neighboring gene chromosome 1 open reading frame 109

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Huntington's disease, organism-specific biosystem (from KEGG)
      Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • Huntington's disease, conserved biosystem (from KEGG)
      Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    motor activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    9+2 motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axoneme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dynein complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    axonemal dynein light intermediate polypeptide 1
    Names
    dJ423B22.5 (axonemal dynein light chain (hp28))
    dynein, axonemal, light intermediate polypeptide 1
    inner dynein arm light chain, axonemal
    inner dynein arm, homolog of clamydomonas

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_003462.4NP_003453.3  axonemal dynein light intermediate polypeptide 1

      Status: VALIDATED

      Source sequence(s)
      BC039074, BC046117, BX647913
      Consensus CDS
      CCDS420.1
      Related
      ENSP00000296218.7, ENST00000296218.8
      Conserved Domains (1) summary
      pfam10211
      Location:66252
      Ax_dynein_light; Axonemal dynein light chain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      37556919..37566857
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005271172.3XP_005271229.1  axonemal dynein light intermediate polypeptide 1 isoform X1

      See identical proteins and their annotated locations for XP_005271229.1

      UniProtKB/Swiss-Prot
      O14645
      Conserved Domains (1) summary
      pfam10211
      Location:7126
      Ax_dynein_light; Axonemal dynein light chain
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