Format

Send to:

Choose Destination

DYNC1I1 dynein cytoplasmic 1 intermediate chain 1 [ Homo sapiens (human) ]

Gene ID: 1780, updated on 19-Jun-2019

Summary

Official Symbol
DYNC1I1provided by HGNC
Official Full Name
dynein cytoplasmic 1 intermediate chain 1provided by HGNC
Primary source
HGNC:HGNC:2963
See related
Ensembl:ENSG00000158560 MIM:603772
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DNCI1; DNCIC1
Expression
Biased expression in brain (RPKM 14.7), adrenal (RPKM 3.3) and 4 other tissues See more
Orthologs

Genomic context

See DYNC1I1 in Genome Data Viewer
Location:
7q21.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (95772506..96110322)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (95401818..95739634)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986746 Neighboring gene uncharacterized LOC105375409 Neighboring gene eDlx#27 enhancer in SHFM1 region Neighboring gene eDlx#26 enhancer in SHFM1 region Neighboring gene eDlx#24 enhancer in SHFM1 region Neighboring gene eExon 15 DLX5/6 limb enhancer Neighboring gene eExon 17 DLX5/6 limb enhancer Neighboring gene eDlx#23 enhancer in SHFM1 region Neighboring gene solute carrier family 25 member 13 Neighboring gene CYCS pseudogene 18

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
capsid gag HIV-1 CA uncoating is delayed in the presence of ciliobrevin D, a specific inhibitor of dynein-mediated motor function, indicating that dynein is involved in CA uncoating in cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
    Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
  • COPI-independent Golgi-to-ER retrograde traffic, organism-specific biosystem (from REACTOME)
    COPI-independent Golgi-to-ER retrograde traffic, organism-specific biosystemIn addition to the better characterized COPI-dependent retrograde Golgi-to-ER pathway, a second COPI-independent pathway has also been identified. This pathway is RAB6 dependent and transports cargo...
  • COPI-mediated anterograde transport, organism-specific biosystem (from REACTOME)
    COPI-mediated anterograde transport, organism-specific biosystemThe ERGIC (ER-to-Golgi intermediate compartment, also known as vesicular-tubular clusters, VTCs) is a stable, biochemically distinct compartment located adjacent to ER exit sites (Ben-Tekaya et al, 2...
  • ER to Golgi Anterograde Transport, organism-specific biosystem (from REACTOME)
    ER to Golgi Anterograde Transport, organism-specific biosystemSecretory cargo destined to be secreted or to arrive at the plasma membrane (PM) leaves the ER via distinct exit sites. This cargo is destined for the Golgi apparatus for further processing.
  • Golgi-to-ER retrograde transport, organism-specific biosystem (from REACTOME)
    Golgi-to-ER retrograde transport, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER occurs through either COPI-coated vesicles or through a less well characterized RAB6-dependent route that makes use of tubular carriers (r...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
  • MHC class II antigen presentation, organism-specific biosystem (from REACTOME)
    MHC class II antigen presentation, organism-specific biosystemAntigen presenting cells (APCs) such as B cells, dendritic cells (DCs) and monocytes/macrophages express major histocompatibility complex class II molecules (MHC II) at their surface and present exog...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Phagosome, organism-specific biosystem (from KEGG)
    Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Phagosome, conserved biosystem (from KEGG)
    Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Salmonella infection, organism-specific biosystem (from KEGG)
    Salmonella infection, organism-specific biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
  • Salmonella infection, conserved biosystem (from KEGG)
    Salmonella infection, conserved biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
  • Transport to the Golgi and subsequent modification, organism-specific biosystem (from REACTOME)
    Transport to the Golgi and subsequent modification, organism-specific biosystemAt least two mechanisms of transport of proteins from the ER to the Golgi have been described. One is a general flow requiring no export signals (Wieland et al, 1987; Martinez-Menarguez et al, 1999)....
  • Vasopressin-regulated water reabsorption, organism-specific biosystem (from KEGG)
    Vasopressin-regulated water reabsorption, organism-specific biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...
  • Vasopressin-regulated water reabsorption, conserved biosystem (from KEGG)
    Vasopressin-regulated water reabsorption, conserved biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to ATP-dependent microtubule motor activity, plus-end-directed IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dynein heavy chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dynein light chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
 
microtubule motor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
motor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
spectrin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
Traceable Author Statement
more info
 
microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vesicle transport along microtubule IMP
Inferred from Mutant Phenotype
more info
PubMed 
vesicle transport along microtubule ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
condensed chromosome kinetochore IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic dynein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic dynein complex ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasmic ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
recycling endosome IDA
Inferred from Direct Assay
more info
PubMed 
spindle pole IDA
Inferred from Direct Assay
more info
PubMed 
vesicle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cytoplasmic dynein 1 intermediate chain 1
Names
DH IC-1
cytoplasmic dynein intermediate chain 1
dynein intermediate chain 1, cytosolic
dynein, cytoplasmic, intermediate polypeptide 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001135556.1NP_001129028.1  cytoplasmic dynein 1 intermediate chain 1 isoform b

    See identical proteins and their annotated locations for NP_001129028.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AF123074, AK313148, BC032945, DA491512, DB343806
    Consensus CDS
    CCDS47645.1
    UniProtKB/Swiss-Prot
    O14576
    UniProtKB/TrEMBL
    A4D1I7, Q8N542
    Related
    ENSP00000392337.2, ENST00000447467.6
    Conserved Domains (3) summary
    sd00039
    Location:329368
    7WD40; WD40 repeat [structural motif]
    pfam11540
    Location:130156
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2
    cl25539
    Location:266589
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. NM_001135557.1NP_001129029.1  cytoplasmic dynein 1 intermediate chain 1 isoform c

    See identical proteins and their annotated locations for NP_001129029.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice junction and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AF123074, BC032945, DA491512, DB343806
    Consensus CDS
    CCDS47646.1
    UniProtKB/Swiss-Prot
    O14576
    UniProtKB/TrEMBL
    Q8N542
    Related
    ENSP00000352348.4, ENST00000359388.8
    Conserved Domains (3) summary
    sd00039
    Location:309348
    7WD40; WD40 repeat [structural motif]
    pfam11540
    Location:110136
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2
    cl25539
    Location:246569
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  3. NM_001278421.1NP_001265350.1  cytoplasmic dynein 1 intermediate chain 1 isoform d

    See identical proteins and their annotated locations for NP_001265350.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (d) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AK309419, BC022540, BC032945, DA491512
    Consensus CDS
    CCDS64718.1
    UniProtKB/Swiss-Prot
    O14576
    UniProtKB/TrEMBL
    Q8N542
    Related
    ENSP00000398118.1, ENST00000437599.5
    Conserved Domains (3) summary
    sd00039
    Location:326365
    7WD40; WD40 repeat [structural motif]
    pfam11540
    Location:127153
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2
    cl25539
    Location:263586
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  4. NM_001278422.1NP_001265351.1  cytoplasmic dynein 1 intermediate chain 1 isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate in-frame splice junction at the 5' end of an exon, lacks an alternate in-frame exon, and has an alternate 3'-most exon compared to variant 1. The resulting isoform (e) lacks two alternate segments in the N-terminus and has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC002452, AK297427, DA491512
    Consensus CDS
    CCDS64719.1
    UniProtKB/Swiss-Prot
    O14576
    Related
    ENSP00000486363.1, ENST00000630942.2
    Conserved Domains (4) summary
    COG2319
    Location:160570
    WD40; WD40 repeat [General function prediction only]
    pfam11540
    Location:110136
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2
    sd00039
    Location:309348
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:246569
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  5. NM_004411.4NP_004402.1  cytoplasmic dynein 1 intermediate chain 1 isoform a

    See identical proteins and their annotated locations for NP_004402.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AK313148, BC032945, BP307571, DA491512, DB343806
    Consensus CDS
    CCDS5644.1
    UniProtKB/Swiss-Prot
    O14576
    UniProtKB/TrEMBL
    A4D1I7, Q8N542
    Related
    ENSP00000320130.6, ENST00000324972.10
    Conserved Domains (3) summary
    sd00039
    Location:346385
    7WD40; WD40 repeat [structural motif]
    pfam11540
    Location:147173
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2
    cl25539
    Location:283606
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    95772506..96110322
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center