Aliases for DYNC1I1 Gene

Aliases for DYNC1I1 Gene

  • Dynein Cytoplasmic 1 Intermediate Chain 1 2 3 5
  • DNCIC1 2 3 4
  • Dynein, Cytoplasmic, Intermediate Polypeptide 1 2 3
  • Cytoplasmic Dynein 1 Intermediate Chain 1 3 4
  • Cytoplasmic Dynein Intermediate Chain 1 3 4
  • Dynein Intermediate Chain 1, Cytosolic 3 4
  • DH IC-1 3 4
  • DNCI1 3 4
  • DYNC1I1 5

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 Joubert Syndrome 31 and Paranoid Personality Disorder. Among its related pathways are Phagosome and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include microtubule binding and motor activity. An important paralog of this gene is DYNC1I2.

UniProtKB/Swiss-Prot Summary 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) DCTN1. 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 , Rfam classification and piRNA Summary for DYNC1I1 Gene

Genomics for DYNC1I1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DYNC1I1 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 DYNC1I1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DYNC1I1

Top Transcription factor binding sites by QIAGEN in the DYNC1I1 gene promoter:
  • Brachyury
  • Egr-4
  • FOXO3
  • FOXO3a
  • FOXO3b
  • IRF-1
  • NF-kappaB1
  • Pax-2
  • Pax-2a

Genomic Locations for DYNC1I1 Gene

Latest Assembly
chr7:95,772,506-96,110,322
(GRCh38/hg38)
Size:
337,817 bases
Orientation:
Plus strand

Previous Assembly
chr7:95,401,866-95,739,634
(GRCh37/hg19 by Entrez Gene)
Size:
337,769 bases
Orientation:
Plus strand

chr7:95,401,866-95,739,634
(GRCh37/hg19 by Ensembl)
Size:
337,769 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 DCTN1 (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

Suggested Antigen Peptide Sequences for DYNC1I1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ93640, Homo sapiens dynein, cytoplasmic, intermediate polypeptide 1(DNCI1), mRNA (A4D1I7_HUMAN)
  • Dynein intermediate chain 1, cytosolic (DC1I1_HUMAN)
  • DYNC1I1 protein (Q7Z6M0_HUMAN)
  • DYNC1I1 protein (Q8IY52_HUMAN)
  • DYNC1I1 protein (Q8N542_HUMAN)

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) DCTN1. May play a role in mediating the interaction of cytoplasmic dynein with membranous organelles and kinetochores.

Phenotypes From GWAS Catalog for DYNC1I1 Gene

Gene Ontology (GO) - Molecular Function for DYNC1I1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA,TAS 10049579
GO:0003777 microtubule motor activity ISS --
GO:0005515 protein binding IEA,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:

miRNA for DYNC1I1 Gene

miRTarBase miRNAs that target DYNC1I1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DYNC1I1

Clone products for research

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
endosome 5
cytosol 4
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DYNC1I1 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:0005634 nucleus IDA 25540360
genes like me logo Genes that share ontologies with DYNC1I1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DYNC1I1 Gene

Pathways & Interactions for DYNC1I1 Gene

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

Pathways by source for DYNC1I1 Gene

2 GeneGo (Thomson Reuters) pathways for DYNC1I1 Gene
  • Cell cycle_Spindle assembly and chromosome separation
  • Regulation of degradation of deltaF508 CFTR in CF

Gene Ontology (GO) - Biological Process for DYNC1I1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007018 microtubule-based movement IEA,IBA 21873635
GO:0010970 transport along microtubule IBA 21873635
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
GO:0047496 vesicle transport along microtubule IMP,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

mRNA/cDNA for DYNC1I1 Gene

5 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DYNC1I1

Clone products for research

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

No ASD Table

Relevant External Links for DYNC1I1 Gene

GeneLoc Exon Structure for
DYNC1I1

Expression for DYNC1I1 Gene

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



Protein tissue co-expression partners for DYNC1I1 Gene

- Elite partner

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

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 29 30
  • 99.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DYNC1I1 29 30
  • 92.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DYNC1I1 29 30
  • 92.05 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dync1i1 29
  • 91.6 (n)
Mouse
(Mus musculus)
Mammalia Dync1i1 29 16 30
  • 91.3 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DYNC1I1 30
  • 74 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DYNC1I1 30
  • 39 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DYNC1I1 29 30
  • 83.89 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DYNC1I1 30
  • 96 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dync1i1 29
  • 78.22 (n)
Zebrafish
(Danio rerio)
Actinopterygii DYNC1I1 (1 of 2) 30
  • 83 (a)
OneToMany
dync1i1 29 30
  • 73.79 (n)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.193 29
Fruit Fly
(Drosophila melanogaster)
Insecta Sdic4 30
  • 53 (a)
ManyToMany
Sdic2 30
  • 53 (a)
ManyToMany
Sdic3 30
  • 51 (a)
ManyToMany
Sdic1 30
  • 49 (a)
ManyToMany
sw 30
  • 47 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea dyci-1 30
  • 36 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.507 30
  • 49 (a)
OneToMany
Species where no ortholog for DYNC1I1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DYNC1I1: view image
Alliance of Genome Resources:
Additional Orthologs for DYNC1I1

Paralogs for DYNC1I1 Gene

Paralogs for DYNC1I1 Gene

(3) SIMAP similar genes for DYNC1I1 Gene using alignment to 10 proteins:

  • DC1I1_HUMAN
  • C9J3E7_HUMAN
  • E5RFE1_HUMAN
  • E5RJ75_HUMAN
  • F5H050_HUMAN
  • G5E9K1_HUMAN
  • Q7Z6M0_HUMAN
  • Q8IY52_HUMAN
  • Q8N542_HUMAN
  • Q8TBF7_HUMAN
genes like me logo Genes that share paralogs with DYNC1I1: view

Variants for DYNC1I1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DYNC1I1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs1048666 Benign: not specified 96,039,352(+) C/A
NM_004411.4(DYNC1I1):c.1491C>A (p.Gly497=)
SYNONYMOUS
rs1060499856 Likely Benign: not specified 95,810,385(+) C/T
NM_004411.4(DYNC1I1):c.109-7C>T
INTRON
rs117676704 Benign: not provided 95,813,198(+) C/G
NM_004411.4(DYNC1I1):c.226C>G (p.Gln76Glu)
MISSENSE_VARIANT,INTRON
rs139485962 Benign: not provided 95,984,960(+) G/A
NM_004411.4(DYNC1I1):c.777G>A (p.Glu259=)
SYNONYMOUS
rs35314029 Benign: not provided 95,977,565(+) C/A
NM_004411.4(DYNC1I1):c.595C>A (p.Leu199Met)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DYNC1I1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for DYNC1I1 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for DYNC1I1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for DYNC1I1 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DYNC1I1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 MA … Tsui LC (Genomics 1999) 2 3 4
  2. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 40
  3. 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
  4. Cytoplasmic dynein nomenclature. (PMID: 16260502) Pfister KK … Vallee RB (The Journal of cell biology 2005) 2 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for DYNC1I1 Gene

Sources for DYNC1I1 Gene