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Aliases for DYNC1I1 Gene

Aliases for DYNC1I1 Gene

  • Dynein Cytoplasmic 1 Intermediate Chain 1 2 3
  • Dynein, Cytoplasmic, Intermediate Polypeptide 1 2 3
  • Dynein, Cytoplasmic 1, Intermediate Chain 1 3 5
  • 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

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 split foot and split hand-split foot malformation. Among its related pathways are Transport to the Golgi and subsequent modification and Immune System. GO annotations related to this gene include microtubule binding and motor activity. An important paralog of this gene is WDR78.

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 , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DYNC1I1 Gene

Genomics for DYNC1I1 Gene

Regulatory Elements for DYNC1I1 Gene

Promoters for DYNC1I1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DYNC1I1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for DYNC1I1 Gene at MOPED

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.
  • Contains 7 WD repeats.
Family:
  • Belongs to the dynein intermediate chain family.
Similarity:
  • Contains 7 WD repeats.
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: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

  • Taconic Biosciences Mouse Models for DYNC1I1

miRNA for DYNC1I1 Gene

miRTarBase miRNAs that target DYNC1I1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry 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
Jensen Localization Image for DYNC1I1 Gene COMPARTMENTS Subcellular localization image for DYNC1I1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
endosome 5
nucleus 5

Gene Ontology (GO) - Cellular Components for DYNC1I1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore IDA 19229290
GO:0005868 cytoplasmic dynein complex IEA,ISS --
GO:0031982 vesicle IDA 20682791
GO:0036464 cytoplasmic ribonucleoprotein granule IDA 15121898
GO:0048471 perinuclear region of cytoplasm ISS --
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: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:

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 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



SOURCE GeneReport for Unigene cluster for DYNC1I1 Gene Hs.440364

genes like me logo Genes that share expression patterns with DYNC1I1: view

Protein tissue co-expression partners for DYNC1I1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia DYNC1I1 35
  • 92.05 (n)
  • 98.19 (a)
DYNC1I1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DYNC1I1 35
  • 92.62 (n)
  • 99.2 (a)
DYNC1I1 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DYNC1I1 36
  • 39 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dync1i1 36
  • 98 (a)
OneToOne
Dync1i1 16
Dync1i1 35
  • 91.3 (n)
  • 98.09 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia DYNC1I1 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DNCI1 36
  • 100 (a)
OneToOne
DNCI1 35
  • 99.79 (n)
  • 100 (a)
rat
(Rattus norvegicus)
Mammalia Dync1i1 35
  • 91.6 (n)
  • 98.13 (a)
chicken
(Gallus gallus)
Aves DYNC1I1 35
  • 83.89 (n)
  • 95.68 (a)
DYNC1I1 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DYNC1I1 36
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dync1i1 35
  • 78.22 (n)
  • 89.46 (a)
zebrafish
(Danio rerio)
Actinopterygii dync1i1 35
  • 73.79 (n)
  • 79.11 (a)
dync1i1 36
  • 79 (a)
OneToMany
DYNC1I1 (1 of 2) 36
  • 83 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.193 35
fruit fly
(Drosophila melanogaster)
Insecta Sdic1 36
  • 49 (a)
ManyToMany
Sdic2 36
  • 53 (a)
ManyToMany
Sdic3 36
  • 51 (a)
ManyToMany
Sdic4 36
  • 53 (a)
ManyToMany
sw 36
  • 47 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea dyci-1 36
  • 36 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.507 36
  • 49 (a)
OneToMany
Species with no ortholog for DYNC1I1:
  • 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
rs35077523 - 96,080,406(-) CACGG(G/T)TTAGG reference, missense
VAR_064709 -
rs448 -- 96,092,968(-) ATAAC(C/T)TTCAC intron-variant
rs449 -- 96,092,950(-) TGTGG(A/G)GCAAT intron-variant
rs450 -- 96,092,922(-) AGAAA(G/T)GCCAG 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
nsv5852 CNV Insertion 18451855
nsv527504 CNV Gain 19592680
nsv5856 CNV Insertion 18451855
esv270373 CNV Insertion 20981092

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

HapMap Linkage Disequilibrium report
DYNC1I1
Human Gene Mutation Database (HGMD)
DYNC1I1

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

Disorders for DYNC1I1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DYNC1I1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
split foot
split hand-split foot malformation
  • split hand foot malformation
- 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 67
  2. Cytoplasmic dynein nomenclature. (PMID: 16260502) Pfister K.K. … Vallee R.B. (J. Cell Biol. 2005) 2 3
  3. Circovirus transport proceeds via direct interaction of the cytoplasmic dynein IC1 subunit with the viral capsid protein. (PMID: 25540360) Cao J. … Zhou J. (J. Virol. 2015) 3
  4. HIV-1 capsids bind and exploit the kinesin-1 adaptor FEZ1 for inward movement to the nucleus. (PMID: 25818806) Malikov V. … Naghavi M.H. (Nat Commun 2015) 3
  5. Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans. (PMID: 24459211) Lango Allen H. … Ellard S. (J. Med. Genet. 2014) 3

Products for DYNC1I1 Gene

Sources for DYNC1I1 Gene

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