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Aliases for DYNC1I1 Gene

Aliases for DYNC1I1 Gene

  • Dynein Cytoplasmic 1 Intermediate Chain 1 2 3 5
  • Dynein, Cytoplasmic, Intermediate Polypeptide 1 2 3
  • Cytoplasmic Dynein Intermediate Chain 1 3 4
  • Dynein Intermediate Chain 1, Cytosolic 3 4
  • DH IC-1 3 4
  • DNCIC1 3 4
  • DNCI1 3 4
  • Cytoplasmic Dynein 1 Intermediate Chain 1 3

External Ids for DYNC1I1 Gene

Previous HGNC Symbols for DYNC1I1 Gene

  • DNCI1

Previous GeneCards Identifiers for DYNC1I1 Gene

  • GC07P095047
  • GC07P095239
  • GC07P095401
  • GC07P090008

Summaries for DYNC1I1 Gene

GeneCards Summary for DYNC1I1 Gene

DYNC1I1 (Dynein Cytoplasmic 1 Intermediate Chain 1) is a Protein Coding gene. Diseases associated with DYNC1I1 include Paranoid Personality Disorder and Split Foot. Among its related pathways are Salmonella infection (KEGG) and Vasopressin-regulated water reabsorption. GO annotations related to this gene include microtubule binding and motor activity. An important paralog of this gene is DYNC1I2.

UniProtKB/Swiss-Prot for DYNC1I1 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. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150-glued) DCNT1. May play a role in mediating the interaction of cytoplasmic dynein with membranous organelles and kinetochores.

Gene Wiki entry for DYNC1I1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DYNC1I1 Gene

Genomics for DYNC1I1 Gene

Regulatory Elements for DYNC1I1 Gene

Enhancers for DYNC1I1 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
GH07G095840 0.9 ENCODE 5.7 +69.1 69066 1.4 ELF3 FOXA2 BMI1 RAD21 YY1 RARA GATA4 EGR1 ZSCAN5C ETV6 DYNC1I1 ENSG00000231170 GC07P095897
GH07G095548 1.6 FANTOM5 Ensembl ENCODE 1.9 -222.1 -222106 2.8 PKNOX1 ATF1 ZNF2 YY1 TCF12 ZNF766 ELK1 GATA2 FOS DEK ENSG00000231170 DYNC1I1 ENSG00000279525 PDK4
GH07G095859 0.6 ENCODE 4.8 +87.1 87149 0.8 FOXA2 KLF6 HMG20A ZNF48 PPARG CBX8 ZGPAT CEBPA TCF7 HNF4A DYNC1I1 GC07P095897
GH07G095860 0.5 ENCODE 4.8 +88.7 88713 1.1 FOXA2 RNF2 PPARG DYNC1I1 GC07P095897
GH07G096044 0.6 FANTOM5 ENCODE 3.7 +272.9 272874 1.1 ZNF507 DYNC1I1 GC07P096040 GC07M096068
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DYNC1I1 on UCSC Golden Path with GeneCards custom track

Promoters for DYNC1I1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000215393 295 1199 PKNOX1 ZSCAN4 KLF17 SIN3A ZBTB40 GLIS2 EGR1 SCRT2 FOS KLF7

Genomic Location for DYNC1I1 Gene

Chromosome:
7
Start:
95,772,506 bp from pter
End:
96,110,322 bp from pter
Size:
337,817 bases
Orientation:
Plus strand

Genomic View for DYNC1I1 Gene

Genes around DYNC1I1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DYNC1I1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DYNC1I1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DYNC1I1 Gene

Proteins for DYNC1I1 Gene

  • Protein details for DYNC1I1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14576-DC1I1_HUMAN
    Recommended name:
    Cytoplasmic dynein 1 intermediate chain 1
    Protein Accession:
    O14576
    Secondary Accessions:
    • B4DME3
    • F5H050
    • G5E9K1
    • Q8TBF7
    • Q9Y2X1

    Protein attributes for DYNC1I1 Gene

    Size:
    645 amino acids
    Molecular mass:
    72955 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. Interacts with DYNC1H1. Interacts with DYNLT1 and DYNLT3. Interacts with DCNT1 (By similarity).

    Alternative splice isoforms for DYNC1I1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DYNC1I1 Gene

Post-translational modifications for DYNC1I1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DYNC1I1 Gene

Domains & Families for DYNC1I1 Gene

Gene Families for DYNC1I1 Gene

Protein Domains for DYNC1I1 Gene

Graphical View of Domain Structure for InterPro Entry

O14576

UniProtKB/Swiss-Prot:

DC1I1_HUMAN :
  • Belongs to the dynein intermediate chain family.
Family:
  • Belongs to the dynein intermediate chain family.
genes like me logo Genes that share domains with DYNC1I1: view

Function for DYNC1I1 Gene

Molecular function for DYNC1I1 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. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150-glued) DCNT1. May play a role in mediating the interaction of cytoplasmic dynein with membranous organelles and kinetochores.

Gene Ontology (GO) - Molecular Function for DYNC1I1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity TAS,IEA 10049579
GO:0003777 microtubule motor activity ISS --
GO:0005515 protein binding IPI 14985359
GO:0008017 microtubule binding ISS --
GO:0030507 spectrin binding IDA 23704327
genes like me logo Genes that share ontologies with DYNC1I1: view
genes like me logo Genes that share phenotypes with DYNC1I1: view

Animal Models for DYNC1I1 Gene

MGI Knock Outs for DYNC1I1:

Animal Model Products

miRNA for DYNC1I1 Gene

miRTarBase miRNAs that target DYNC1I1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DYNC1I1 Gene

Localization for DYNC1I1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DYNC1I1 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 DYNC1I1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
endosome 5

Gene Ontology (GO) - Cellular Components for DYNC1I1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore IEA,IDA 19229290
GO:0000777 condensed chromosome kinetochore IEA --
GO:0000922 spindle pole IDA,IEA 19229290
GO:0005634 nucleus IDA 25540360
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with DYNC1I1: view

Pathways & Interactions for DYNC1I1 Gene

genes like me logo Genes that share pathways with DYNC1I1: view

Gene Ontology (GO) - Biological Process for DYNC1I1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007018 microtubule-based movement IEA --
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
GO:0047496 vesicle transport along microtubule ISS --
genes like me logo Genes that share ontologies with DYNC1I1: view

No data available for SIGNOR curated interactions for DYNC1I1 Gene

Drugs & Compounds for DYNC1I1 Gene

No Compound Related Data Available

Transcripts for DYNC1I1 Gene

Unigene Clusters for DYNC1I1 Gene

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

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DYNC1I1 Gene

No ASD Table

Relevant External Links for DYNC1I1 Gene

GeneLoc Exon Structure for
DYNC1I1
ECgene alternative splicing isoforms for
DYNC1I1

Expression for DYNC1I1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DYNC1I1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DYNC1I1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.7), Brain - Anterior cingulate cortex (BA24) (x4.2), and Brain - Cortex (x4.1).

Protein differential expression in normal tissues from HIPED for DYNC1I1 Gene

This gene is overexpressed in Frontal cortex (28.8), Brain (14.7), and Spinal cord (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DYNC1I1 Gene



Protein tissue co-expression partners for DYNC1I1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DYNC1I1 Gene:

DYNC1I1

SOURCE GeneReport for Unigene cluster for DYNC1I1 Gene:

Hs.440364

Evidence on tissue expression from TISSUES for DYNC1I1 Gene

  • Nervous system(5)
genes like me logo Genes that share expression patterns with DYNC1I1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DYNC1I1 Gene

Orthologs for DYNC1I1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DYNC1I1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNCI1 34 35
  • 99.79 (n)
dog
(Canis familiaris)
Mammalia DYNC1I1 34 35
  • 92.62 (n)
cow
(Bos Taurus)
Mammalia DYNC1I1 34 35
  • 92.05 (n)
rat
(Rattus norvegicus)
Mammalia Dync1i1 34
  • 91.6 (n)
mouse
(Mus musculus)
Mammalia Dync1i1 34 16 35
  • 91.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DYNC1I1 35
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DYNC1I1 35
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves DYNC1I1 34 35
  • 83.89 (n)
lizard
(Anolis carolinensis)
Reptilia DYNC1I1 35
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dync1i1 34
  • 78.22 (n)
zebrafish
(Danio rerio)
Actinopterygii DYNC1I1 (1 of 2) 35
  • 83 (a)
OneToMany
dync1i1 34 35
  • 73.79 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.193 34
fruit fly
(Drosophila melanogaster)
Insecta Sdic2 35
  • 53 (a)
ManyToMany
Sdic4 35
  • 53 (a)
ManyToMany
Sdic3 35
  • 51 (a)
ManyToMany
Sdic1 35
  • 49 (a)
ManyToMany
sw 35
  • 47 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea dyci-1 35
  • 36 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.507 35
  • 49 (a)
OneToMany
Species where no ortholog for DYNC1I1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 DYNC1I1 Gene

ENSEMBL:
Gene Tree for DYNC1I1 (if available)
TreeFam:
Gene Tree for DYNC1I1 (if available)

Paralogs for DYNC1I1 Gene

Paralogs for DYNC1I1 Gene

genes like me logo Genes that share paralogs with DYNC1I1: view

Variants for DYNC1I1 Gene

Sequence variations from dbSNP and Humsavar for DYNC1I1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000008779 -- 95,887,770(+) CCCTA(A/G)TAGTG intron-variant
rs1000013038 -- 96,071,249(+) TAATG(A/G)TAATA intron-variant
rs1000017572 -- 95,973,219(+) CCAAC(C/T)GCACC intron-variant
rs1000035782 -- 95,858,892(+) CATTG(-/T)TTTTA intron-variant
rs1000039950 -- 95,887,898(+) CATCT(A/G)TGATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DYNC1I1 Gene

Variant ID Type Subtype PubMed ID
esv2734849 CNV deletion 23290073
esv274966 CNV gain+loss 21479260
esv3306096 CNV mobile element insertion 20981092
esv3342839 CNV insertion 20981092
esv3424069 CNV insertion 20981092
esv3572001 CNV loss 25503493
esv3614203 CNV loss 21293372
esv3614204 CNV loss 21293372
nsv1023193 CNV gain 25217958
nsv1026003 CNV gain 25217958
nsv527504 CNV gain 19592680
nsv5852 CNV insertion 18451855
nsv5856 CNV insertion 18451855

Variation tolerance for DYNC1I1 Gene

Residual Variation Intolerance Score: 12% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.67; 45.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DYNC1I1 Gene

Human Gene Mutation Database (HGMD)
DYNC1I1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DYNC1I1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DYNC1I1 Gene

Disorders for DYNC1I1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DYNC1I1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
paranoid personality disorder
split foot
split hand-split foot malformation
  • lobster-claw deformity
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DYNC1I1

Genetic Association Database (GAD)
DYNC1I1
Human Genome Epidemiology (HuGE) Navigator
DYNC1I1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DYNC1I1
genes like me logo Genes that share disorders with DYNC1I1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DYNC1I1 Gene

Publications for DYNC1I1 Gene

  1. Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human. (PMID: 10049579) Crackower M.A. … Tsui L.-C. (Genomics 1999) 2 3 4 64
  2. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G. … White R.L. (Alcohol. Clin. Exp. Res. 2010) 3 46 64
  3. Dynein light intermediate chain 1 is required for progress through the spindle assembly checkpoint. (PMID: 19229290) Sivaram M.V. … Doxsey S.J. (EMBO J. 2009) 3 4 64
  4. Cytoplasmic dynein nomenclature. (PMID: 16260502) Pfister K.K. … Vallee R.B. (J. Cell Biol. 2005) 2 3 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for DYNC1I1 Gene

Sources for DYNC1I1 Gene

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