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

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. Among its related pathways are Golgi-to-ER retrograde transport and MHC class II antigen presentation. GO annotations related to this gene include poly(A) RNA binding and microtubule motor activity. An important paralog of this gene is DYNC1LI2.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for DYNC1LI1 Gene

Genomics for DYNC1LI1 Gene

Regulatory Elements for DYNC1LI1 Gene

Enhancers for DYNC1LI1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H032418 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10 +148.6 148591 6 PKNOX1 FEZF1 DMAP1 ZNF2 YY1 FOS ATF7 RUNX3 JUNB ZNF585B CMTM7 CMTM6 CNOT10 RPL31P18 DYNC1LI1 GC03M031988 GC03P032466
GH03H032430 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +138.4 138418 3 PKNOX1 TBL1XR1 SIN3A FEZF1 CEBPG ZFHX2 POLR2A ATF7 RUNX3 IKZF2 CMTM6 RPL31P18 DYNC1LI1 CMTM7 GC03M031988 GC03P032466
GH03H032596 0.8 ENCODE 17.9 -26.4 -26376 1 HDAC1 ATF1 TAL1 FOSL1 TCF12 ZNF766 CTBP1 GATA2 NCOR1 TRIM24 DYNC1LI1 RPL31P18 CMTM6 CNOT10 CNOT10-AS1 SUGT1P2 ENSG00000226955 PIR37638
GH03H032835 1.5 Ensembl ENCODE dbSUPER 9.5 -269.5 -269465 10 PKNOX1 FOXA2 MLX ARID4B DMAP1 RUNX3 SP5 PPARG KAT8 NFIL3 TRIM71 SUGT1P2 CNOT10-AS1 CNOT10 DYNC1LI1 PIR32571
GH03H032501 1.3 ENCODE dbSUPER 10.6 +68.5 68534 2 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 SP3 CNOT10 CMTM6 UBP1 DYNC1LI1 SUGT1P2 CNOT10-AS1 GC03P032466
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DYNC1LI1 on UCSC Golden Path with GeneCards custom track

Promoters for DYNC1LI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000150546 374 2601 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 ZNF207 SP3

Genomic Location for DYNC1LI1 Gene

Chromosome:
3
Start:
32,525,971 bp from pter
End:
32,570,874 bp from pter
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). Interacts with human adenovirus 5 hexon protein; this interaction probably allows virus intracellular transport.

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

Suggested Antigen Peptide Sequences for DYNC1LI1 Gene

GenScript: Design optimal peptide antigens:

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:0003723 RNA binding IDA 22658674
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity IEA --
GO:0005515 protein binding IPI 25272277
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with DYNC1LI1: view

Phenotypes for DYNC1LI1 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DYNC1LI1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
plasma membrane 5
cytoskeleton 5
cytosol 5
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 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 IDA,IEA 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

Gene Ontology (GO) - Biological Process for DYNC1LI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IBA --
GO:0006810 transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007018 microtubule-based movement IEA,IBA --
GO:0007049 cell cycle 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

Unigene Clusters for DYNC1LI1 Gene

Dynein, cytoplasmic 1, light intermediate chain 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DYNC1LI1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
DYNC1LI1

Expression for DYNC1LI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for DYNC1LI1 Gene



Protein tissue co-expression partners for DYNC1LI1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DYNC1LI1 Gene:

DYNC1LI1

SOURCE GeneReport for Unigene cluster for DYNC1LI1 Gene:

Hs.529495

Evidence on tissue expression from TISSUES for DYNC1LI1 Gene

  • Nervous system(4.7)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with DYNC1LI1: view

Primer Products

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 33 34
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia DYNC1LI1 33 34
  • 94.07 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DYNC1LI1 34
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DYNC1LI1 33 34
  • 92.29 (n)
oppossum
(Monodelphis domestica)
Mammalia DYNC1LI1 34
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dync1li1 33 16 34
  • 86.08 (n)
rat
(Rattus norvegicus)
Mammalia Dync1li1 33
  • 85.89 (n)
chicken
(Gallus gallus)
Aves DYNC1LI1 33 34
  • 81.03 (n)
lizard
(Anolis carolinensis)
Reptilia DYNC1LI1 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dync1li1 33
  • 77.27 (n)
Str.20512 33
African clawed frog
(Xenopus laevis)
Amphibia dnclic1-prov 33
zebrafish
(Danio rerio)
Actinopterygii dync1li1 33 34
  • 65.89 (n)
wufc73a07 33
fruit fly
(Drosophila melanogaster)
Insecta Dlic 34
  • 44 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dli-1 34
  • 31 (a)
OneToMany
Species where no ortholog for DYNC1LI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for DYNC1LI1 Gene

Paralogs for DYNC1LI1 Gene

Pseudogenes.org Pseudogenes for DYNC1LI1 Gene

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

Variants for DYNC1LI1 Gene

Sequence variations from dbSNP and Humsavar for DYNC1LI1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs587777902 untested 32,528,467(-) GTTTA(C/G)CACCA reference, missense
rs1000017978 -- 32,548,822(+) GCATA(C/T)ATATA intron-variant
rs1000050945 -- 32,561,158(+) GCCCT(A/C)GGAGG intron-variant
rs1000084994 -- 32,549,739(+) TACCT(A/T)GATTG intron-variant
rs1000113294 -- 32,567,347(+) ACACA(C/T)GTTAC intron-variant

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)

Relevant External Links 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

Relevant External Links for DYNC1LI1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DYNC1LI1

No disorders were found for DYNC1LI1 Gene.

No data available for MalaCards , 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 60
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 60
  3. Cytoplasmic dynein nomenclature. (PMID: 16260502) Pfister KK … Vallee RB (The Journal of cell biology 2005) 2 3 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 60

Products for DYNC1LI1 Gene

Sources for DYNC1LI1 Gene

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