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    DYNC1LI1 dynein cytoplasmic 1 light intermediate chain 1 [ Homo sapiens (human) ]

    Gene ID: 51143, updated on 3-Nov-2024

    Summary

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    Official Symbol
    DYNC1LI1provided by HGNC
    Official Full Name
    dynein cytoplasmic 1 light intermediate chain 1provided by HGNC
    Primary source
    HGNC:HGNC:18745
    See related
    Ensembl:ENSG00000144635 MIM:615890; AllianceGenome:HGNC:18745
    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
    LIC1; DLC-A; DLIC-1; DNCLI1
    Summary
    The protein encoded by this gene belongs to light intermediate subunit family, whose members are components of the multiprotein cytoplasmic dynein complex, which is involved in intracellular trafficking and chromosome segregation during mitosis. The protein plays a role in moving the spindle assembly checkpoint (SAC) from kinetochores to spindle poles. The protein may also mediate binding to other cargo molecules to facilitate intracellular vesicle trafficking. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in testis (RPKM 27.3), heart (RPKM 19.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DYNC1LI1 in Genome Data Viewer
    Location:
    3p22.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (32525974..32570858, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (32522924..32567802, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (32567466..32612350, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene microRNA 548ay Neighboring gene ribosomal protein L31 pseudogene 18 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:32611558-32612343 Neighboring gene uncharacterized LOC124906226 Neighboring gene POLE4 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. A conserved interaction of the dynein light intermediate chain with dynein-dynactin effectors necessary for processivity. Lee IG, et al. Nat Commun, 2018 Mar 7. PMID 29515126, Free PMC Article
    2. Dynein LIC1 localizes to the mitotic spindle and midbody and LIC2 localizes to spindle poles during cell division. Horgan CP, et al. Cell Biol Int, 2011 Feb. PMID 20964624
    3. Association between aberrant dynein cytoplasmic 1 light intermediate chain 1 expression levels, mucins and chemosensitivity in colorectal cancer. Chang CC, et al. Mol Med Rep, 2020 Jul. PMID 32319648, Free PMC Article
    4. A transient helix in the disordered region of dynein light intermediate chain links the motor to structurally diverse adaptors for cargo transport. Celestino R, et al. PLoS Biol, 2019 Jan. PMID 30615611, Free PMC Article
    5. Phosphorylation and Pin1 binding to the LIC1 subunit selectively regulate mitotic dynein functions. Kumari A, et al. J Cell Biol, 2021 Dec 6. PMID 34709360, Free PMC Article

    See all (118) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Phosphorylation and Pin1 binding to the LIC1 subunit selectively regulate mitotic dynein functions.
      Title: Phosphorylation and Pin1 binding to the LIC1 subunit selectively regulate mitotic dynein functions.
    2. Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes.
      Title: Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes.
    3. Association between aberrant dynein cytoplasmic 1 light intermediate chain 1 expression levels, mucins and chemosensitivity in colorectal cancer.
      Title: Association between aberrant dynein cytoplasmic 1 light intermediate chain 1 expression levels, mucins and chemosensitivity in colorectal cancer.
    4. High DLIC1 expression is associated with colon cancer
      Title: DLIC1, but not DLIC2, is upregulated in colon cancer and this contributes to proliferative overgrowth and migratory characteristics of cancer cells.
    5. conserved mechanism of effector interaction with dynein-dynactin necessary for processive motility
      Title: A conserved interaction of the dynein light intermediate chain with dynein-dynactin effectors necessary for processivity.
    6. the DYNC1I1 deficiency, a neuron-specific dynein intermediate chain, causes neuronal atrophy in primary hippocampal neurons.
      Title: Cellular model of neuronal atrophy induced by DYNC1I1 deficiency reveals protective roles of RAS-RAF-MEK signaling.
    7. This work reveals the structural details of Hook3's interaction with dynein and offers insight into how cargo adaptors form processive dynein-dynactin motor complexes.
      Title: Assembly and activation of dynein-dynactin by the cargo adaptor protein Hook3.
    8. although dynein lacking light intermediate chains (LICs) drives microtubule gliding at normal rates, the LICs are required for the formation and maintenance of a bipolar spindle.
      Title: Dynein light intermediate chains maintain spindle bipolarity by functioning in centriole cohesion.
    9. using a variety of complementary approaches, our results indicate a novel specific role for the LICs in dynein recruitment to components of the late endocytic pathway.
      Title: Recruitment of dynein to late endosomes and lysosomes through light intermediate chains.
    10. Rab11a, FIP3 and DLIC-1 form a ternary complex and DLIC-1 colocalises with endogenous FIP3 and Rab11a in A431 cells.
      Title: Rab11-FIP3 links the Rab11 GTPase and cytoplasmic dynein to mediate transport to the endosomal-recycling compartment.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr is identified to have a physical interaction with dynein, cytoplasmic 1, light intermediate chain 1 (DYNC1LI1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10219

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GDP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT enables GTP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables dynein heavy chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dynein heavy chain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables molecular adaptor activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-macromolecule adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in early endosome to recycling endosome transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in microtubule-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in microtubule-based movement IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in microtubule-based movement IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of mitotic cell cycle spindle assembly checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of vesicle-mediated transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of cytoplasmic dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of cytoplasmic dynein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endocytic vesicle membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    is_active_in microtubule IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in secretory granule membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cytoplasmic dynein 1 light intermediate chain 1
    Names
    dynein light chain A
    dynein light intermediate chain 1, cytosolic
    dynein, cytoplasmic, light intermediate polypeptide 1

    NCBI Reference Sequences (RefSeq)

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    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_051046.1 RefSeqGene

      Range
      5067..49951
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001329135.2 → NP_001316064.1  cytoplasmic dynein 1 light intermediate chain 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two consecutive alternate exons in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AK074348
      Consensus CDS
      CCDS87058.1
      UniProtKB/TrEMBL
      B4DDM4, E9PHI6
      Related
      ENSP00000407279.2, ENST00000432458.6
      Conserved Domains (1) summary
      pfam05783
      Location:43 → 403
      DLIC; Dynein light intermediate chain (DLIC)

    2. NM_016141.4 → NP_057225.2  cytoplasmic dynein 1 light intermediate chain 1 isoform 1

      See identical proteins and their annotated locations for NP_057225.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK074348
      Consensus CDS
      CCDS2654.1
      UniProtKB/Swiss-Prot
      A2RRG7, Q53HC8, Q53HK7, Q9Y6G9
      Related
      ENSP00000273130.4, ENST00000273130.9
      Conserved Domains (1) summary
      pfam05783
      Location:43 → 517
      DLIC; Dynein light intermediate chain (DLIC)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      32525974..32570858 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448246.1 → XP_047304202.1  cytoplasmic dynein 1 light intermediate chain 1 isoform X1

      UniProtKB/TrEMBL
      B3KM42

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      32522924..32567802 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346721.1 → XP_054202696.1  cytoplasmic dynein 1 light intermediate chain 1 isoform X1

      UniProtKB/TrEMBL
      B3KM42
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y6G9.3 GenPept UniProtKB/Swiss-Prot:Q9Y6G9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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