Format

Send to:

Choose Destination
    • Showing Current items.

    DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 [ Homo sapiens (human) ]

    Gene ID: 51626, updated on 8-Jul-2021

    Summary

    Official Symbol
    DYNC2LI1provided by HGNC
    Official Full Name
    dynein cytoplasmic 2 light intermediate chain 1provided by HGNC
    Primary source
    HGNC:HGNC:24595
    See related
    Ensembl:ENSG00000138036 MIM:617083
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LIC3; D2LIC; CGI-60
    Summary
    This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
    Expression
    Ubiquitous expression in testis (RPKM 10.0), thyroid (RPKM 6.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DYNC2LI1 in Genome Data Viewer
    Location:
    2p21
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (43774039..43828347)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (44001178..44055486)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene pleckstrin homology, MyTH4 and FERM domain containing H2 Neighboring gene zinc finger protein 106 homolog (mouse) pseudogene Neighboring gene uncharacterized LOC105374571 Neighboring gene RN7SK pseudogene 66 Neighboring gene ATP binding cassette subfamily G member 5 Neighboring gene uncharacterized LOC102725159 Neighboring gene ATP binding cassette subfamily G member 8 Neighboring gene RNA, U6 small nuclear 1048, pseudogene Neighboring gene leucine rich pentatricopeptide repeat containing

    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

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    capsid gag HIV-1 CA uncoating is delayed in the presence of ciliobrevin D, a specific inhibitor of dynein-mediated motor function, indicating that dynein is involved in CA uncoating in cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp564A033

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dynein heavy chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables dynein heavy chain binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intraciliary retrograde transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in intraciliary transport involved in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in intraciliary transport involved in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in apical part of cell ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in ciliary tip TAS
    Traceable Author Statement
    more info
     
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cilium TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of cytoplasmic dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of cytoplasmic dynein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of cytoplasmic dynein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    colocalizes_with cytoplasmic microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    cytoplasmic dynein 2 light intermediate chain 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_053008.1 RefSeqGene

      Range
      5001..40972
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001193464.2NP_001180393.1  cytoplasmic dynein 2 light intermediate chain 1 isoform 4

      See identical proteins and their annotated locations for NP_001180393.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the middle portion of the coding region, compared to variant 1. This results in a longer protein (isoform 4), compared to isoform 1.
      Source sequence(s)
      AK223432, BC006969
      Consensus CDS
      CCDS62903.1
      UniProtKB/Swiss-Prot
      Q8TCX1
      Related
      ENSP00000474032.1, ENST00000605786.5
      Conserved Domains (1) summary
      pfam05783
      Location:2269
      DLIC; Dynein light intermediate chain (DLIC)
    2. NM_001348912.2NP_001335841.1  cytoplasmic dynein 2 light intermediate chain 1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences at its 3' end, compared to variant 1. This results in a longer protein (isoform 5) with a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC011242, AC108476
      Conserved Domains (1) summary
      pfam05783
      Location:2268
      DLIC; Dynein light intermediate chain (DLIC)
    3. NM_001348913.2NP_001335842.1  cytoplasmic dynein 2 light intermediate chain 1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate in-frame splice site in the middle portion of the coding region and has multiple differences at its 3' end, compared to variant 1. This results in a longer protein (isoform 6) with a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC011242, AC108476
      Conserved Domains (1) summary
      pfam05783
      Location:2269
      DLIC; Dynein light intermediate chain (DLIC)
    4. NM_015522.4NP_056337.1  cytoplasmic dynein 2 light intermediate chain 1 isoform 2

      See identical proteins and their annotated locations for NP_056337.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK223432, BC016324, CB528979
      Consensus CDS
      CCDS46270.1
      UniProtKB/Swiss-Prot
      Q8TCX1
      Related
      ENSP00000385738.3, ENST00000406852.7
      Conserved Domains (1) summary
      pfam05783
      Location:2160
      DLIC; Dynein light intermediate chain (DLIC)
    5. NM_016008.4NP_057092.2  cytoplasmic dynein 2 light intermediate chain 1 isoform 1

      See identical proteins and their annotated locations for NP_057092.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AK223432, AY083346
      Consensus CDS
      CCDS1813.1
      UniProtKB/Swiss-Prot
      Q8TCX1
      Related
      ENSP00000260605.8, ENST00000260605.12
      Conserved Domains (1) summary
      pfam05783
      Location:2268
      DLIC; Dynein light intermediate chain (DLIC)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      43774039..43828347
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001012665.1: Suppressed sequence

      Description
      NM_001012665.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Support Center