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 medi... See more...

Aliases for DYNC1LI1 Gene

Aliases for DYNC1LI1 Gene

  • Dynein Cytoplasmic 1 Light Intermediate Chain 1 2 3 5
  • Dynein, Cytoplasmic, Light Intermediate Polypeptide 1 2 3
  • Cytoplasmic Dynein 1 Light Intermediate Chain 1 3 4
  • Dynein Light Intermediate Chain 1, Cytosolic 3 4
  • Dynein Light Chain A 3 4
  • DNCLI1 3 4
  • DLC-A 3 4
  • LIC1 3 4
  • DYNC1LI1 5

External Ids for DYNC1LI1 Gene

Previous HGNC Symbols for DYNC1LI1 Gene

  • DNCLI1

Summaries for DYNC1LI1 Gene

Entrez Gene Summary for DYNC1LI1 Gene

  • 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]

GeneCards Summary for DYNC1LI1 Gene

DYNC1LI1 (Dynein Cytoplasmic 1 Light Intermediate Chain 1) is a Protein Coding gene. Diseases associated with DYNC1LI1 include Retinitis Pigmentosa 3 and Bjornstad Syndrome. Among its related pathways are Cell cycle_Spindle assembly and chromosome separation and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include microtubule motor activity. An important paralog of this gene is DYNC1LI2.

UniProtKB/Swiss-Prot Summary for DYNC1LI1 Gene

  • Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in binding dynein to membranous organelles or chromosomes. Probably involved in the microtubule-dependent transport of pericentrin. Is required for progress through the spindle assembly checkpoint. The phosphorylated form appears to be involved in the selective removal of MAD1L1 and MAD1L2 but not BUB1B from kinetochores.

Gene Wiki entry for DYNC1LI1 Gene

Additional gene information for DYNC1LI1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DYNC1LI1 Gene

Genomics for DYNC1LI1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DYNC1LI1 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 DYNC1LI1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DYNC1LI1

Top Transcription factor binding sites by QIAGEN in the DYNC1LI1 gene promoter:
  • c-Myb
  • HOXA5
  • Pax-5
  • POU2F1
  • POU2F1a
  • RORalpha1
  • RORalpha2
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for DYNC1LI1 Gene

Genomic Locations for DYNC1LI1 Gene
chr3:32,525,971-32,570,924
(GRCh38/hg38)
Size:
44,954 bases
Orientation:
Minus strand
chr3:32,567,463-32,612,366
(GRCh37/hg19)
Size:
44,904 bases
Orientation:
Minus strand

Genomic View for DYNC1LI1 Gene

Genes around DYNC1LI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DYNC1LI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DYNC1LI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DYNC1LI1 Gene

Proteins for DYNC1LI1 Gene

  • Protein details for DYNC1LI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6G9-DC1L1_HUMAN
    Recommended name:
    Cytoplasmic dynein 1 light intermediate chain 1
    Protein Accession:
    Q9Y6G9
    Secondary Accessions:
    • A2RRG7
    • Q53HC8
    • Q53HK7

    Protein attributes for DYNC1LI1 Gene

    Size:
    523 amino acids
    Molecular mass:
    56579 Da
    Quaternary structure:
    • Homodimer (By similarity). The cytoplasmic dynein 1 complex consists of two catalytic heavy chains (HCs) and a number of non-catalytic subunits presented by intermediate chains (ICs), light intermediate chains (LICs) and light chains (LCs); the composition seems to vary in respect to the IC, LIC and LC composition. The heavy chain homodimer serves as a scaffold for the probable homodimeric assembly of the respective non-catalytic subunits. The ICs and LICs bind directly to the HC dimer and the LCs assemble on the IC dimer. Self-associates. Interacts with DYNC1H1; DYNC1LI1 and DYNC1LI2 bind mutually exclusive to DYNC1H1. Interacts with PCNT (By similarity).
    • (Microbial infection) Interacts with human adenovirus 5 hexon protein; this interaction probably allows virus intracellular transport.

    Three dimensional structures from OCA and Proteopedia for DYNC1LI1 Gene

neXtProt entry for DYNC1LI1 Gene

Post-translational modifications for DYNC1LI1 Gene

Other Protein References for DYNC1LI1 Gene

No data available for DME Specific Peptides for DYNC1LI1 Gene

Domains & Families for DYNC1LI1 Gene

Gene Families for DYNC1LI1 Gene

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

Protein Domains for DYNC1LI1 Gene

InterPro:
Blocks:
  • Dynein light intermediate chain
ProtoNet:

Suggested Antigen Peptide Sequences for DYNC1LI1 Gene

GenScript: Design optimal peptide antigens:
  • Dynein light intermediate chain 1, cytosolic (DC1L1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y6G9

UniProtKB/Swiss-Prot:

DC1L1_HUMAN :
  • Belongs to the dynein light intermediate chain family.
Family:
  • Belongs to the dynein light intermediate chain family.
genes like me logo Genes that share domains with DYNC1LI1: view

Function for DYNC1LI1 Gene

Molecular function for DYNC1LI1 Gene

UniProtKB/Swiss-Prot Function:
Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in binding dynein to membranous organelles or chromosomes. Probably involved in the microtubule-dependent transport of pericentrin. Is required for progress through the spindle assembly checkpoint. The phosphorylated form appears to be involved in the selective removal of MAD1L1 and MAD1L2 but not BUB1B from kinetochores.

Phenotypes From GWAS Catalog for DYNC1LI1 Gene

Gene Ontology (GO) - Molecular Function for DYNC1LI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding HDA 22658674
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity IEA --
GO:0005515 protein binding IPI 25272277
genes like me logo Genes that share ontologies with DYNC1LI1: view
genes like me logo Genes that share phenotypes with DYNC1LI1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DYNC1LI1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DYNC1LI1 Gene

Localization for DYNC1LI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DYNC1LI1 Gene

Cytoplasm. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle pole.

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 DYNC1LI1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 4
nucleus 2
endosome 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (3)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DYNC1LI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IEA,IDA 19229290
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000922 spindle pole IEA,IDA 19229290
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with DYNC1LI1: view

Pathways & Interactions for DYNC1LI1 Gene

genes like me logo Genes that share pathways with DYNC1LI1: view

Pathways by source for DYNC1LI1 Gene

2 GeneGo (Thomson Reuters) pathways for DYNC1LI1 Gene
  • Cell cycle_Spindle assembly and chromosome separation
  • Regulation of degradation of deltaF508 CFTR in CF

Gene Ontology (GO) - Biological Process for DYNC1LI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IBA 21873635
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007018 microtubule-based movement IEA,IBA 21873635
GO:0007049 cell cycle IEA --
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with DYNC1LI1: view

No data available for SIGNOR curated interactions for DYNC1LI1 Gene

Drugs & Compounds for DYNC1LI1 Gene

No Compound Related Data Available

Transcripts for DYNC1LI1 Gene

mRNA/cDNA for DYNC1LI1 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DYNC1LI1

Alternative Splicing Database (ASD) splice patterns (SP) for DYNC1LI1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: - - -
SP2: - - - - -
SP3: -
SP4: - -
SP5: - -
SP6: - -

Relevant External Links for DYNC1LI1 Gene

GeneLoc Exon Structure for
DYNC1LI1

Expression for DYNC1LI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DYNC1LI1 Gene

Protein differential expression in normal tissues from HIPED for DYNC1LI1 Gene

This gene is overexpressed in Fetal Brain (7.3), Peripheral blood mononuclear cells (6.6), and Lavage (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DYNC1LI1 Gene



Protein tissue co-expression partners for DYNC1LI1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DYNC1LI1

SOURCE GeneReport for Unigene cluster for DYNC1LI1 Gene:

Hs.529495

Evidence on tissue expression from TISSUES for DYNC1LI1 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Blood(4.4)
  • Skin(2.4)
  • Heart(2.3)
  • Kidney(2.2)
  • Eye(2.2)
  • Lung(2)
genes like me logo Genes that share expression patterns with DYNC1LI1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DYNC1LI1 Gene

Orthologs for DYNC1LI1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DYNC1LI1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DYNC1LI1 30 31
  • 99.68 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DYNC1LI1 30 31
  • 94.07 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DYNC1LI1 31
  • 93 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia DYNC1LI1 30 31
  • 92.29 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DYNC1LI1 31
  • 87 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Dync1li1 30 17 31
  • 86.08 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dync1li1 30
  • 85.89 (n)
Chicken
(Gallus gallus)
Aves DYNC1LI1 30 31
  • 81.03 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DYNC1LI1 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dync1li1 30
  • 77.27 (n)
Str.20512 30
African clawed frog
(Xenopus laevis)
Amphibia dnclic1-prov 30
Zebrafish
(Danio rerio)
Actinopterygii dync1li1 30 31
  • 65.89 (n)
OneToOne
wufc73a07 30
Fruit Fly
(Drosophila melanogaster)
Insecta Dlic 31
  • 44 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea dli-1 31
  • 31 (a)
OneToMany
Species where no ortholog for DYNC1LI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 DYNC1LI1 Gene

ENSEMBL:
Gene Tree for DYNC1LI1 (if available)
TreeFam:
Gene Tree for DYNC1LI1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DYNC1LI1: view image

Paralogs for DYNC1LI1 Gene

Paralogs for DYNC1LI1 Gene

(19) SIMAP similar genes for DYNC1LI1 Gene using alignment to 4 proteins:

  • DC1L1_HUMAN
  • C9JGM7_HUMAN
  • C9JLW1_HUMAN
  • E9PHI6_HUMAN

Pseudogenes.org Pseudogenes for DYNC1LI1 Gene

genes like me logo Genes that share paralogs with DYNC1LI1: view

Variants for DYNC1LI1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DYNC1LI1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs587777902 Not Provided: not provided 32,528,467(-) G/C MISSENSE_VARIANT
rs2303857 - p.Gln277Arg
rs34181332 - p.Met147Thr

Additional dbSNP identifiers (rs#s) for DYNC1LI1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DYNC1LI1 Gene

Variant ID Type Subtype PubMed ID
esv3595777 CNV loss 21293372
nsv1003285 CNV gain 25217958
nsv3752 CNV deletion 18451855
nsv474540 CNV novel sequence insertion 20440878
nsv834652 CNV loss 17160897

Variation tolerance for DYNC1LI1 Gene

Residual Variation Intolerance Score: 82.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.99; 68.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DYNC1LI1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DYNC1LI1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DYNC1LI1 Gene

Disorders for DYNC1LI1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DYNC1LI1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 3
  • rp3
bjornstad syndrome
  • bjs
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with DYNC1LI1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DYNC1LI1 Gene

Publications for DYNC1LI1 Gene

  1. Dynein light intermediate chain 1 is required for progress through the spindle assembly checkpoint. (PMID: 19229290) Sivaram MV … Doxsey SJ (The EMBO journal 2009) 3 4
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  3. Cytoplasmic dynein nomenclature. (PMID: 16260502) Pfister KK … Vallee RB (The Journal of cell biology 2005) 2 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling. (PMID: 31073040) Choi JH … Beutler B (Science (New York, N.Y.) 2019) 3

Products for DYNC1LI1 Gene

  • Signalway Proteins for DYNC1LI1

Sources for DYNC1LI1 Gene