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

Gene ID: 1780, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:2963
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
Summary
Enables spectrin binding activity. Involved in vesicle transport along microtubule. Located in several cellular components, including kinetochore; recycling endosome; and spindle pole. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 14.7), adrenal (RPKM 3.3) and 4 other tissues See more
Orthologs
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Genomic context

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See DYNC1I1 in Genome Data Viewer
Location:
7q21.3
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (95772554..96110322)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (97008421..97346216)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (95401866..95739634)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986746 Neighboring gene uncharacterized LOC105375409 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:95405912-95407111 Neighboring gene Sharpr-MPRA regulatory region 1852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:95466378-95466994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26296 Neighboring gene eDlx#27 enhancer in SHFM1 region Neighboring gene MPRA-validated peak6645 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:95570271-95570871 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:95570872-95571471 Neighboring gene eDlx#26 enhancer in SHFM1 region Neighboring gene uncharacterized LOC124901700 Neighboring gene uncharacterized LOC124901701 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 OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:95772367-95773202 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:95773203-95774037 Neighboring gene solute carrier family 25 member 13 Neighboring gene CYCS pseudogene 18 Neighboring gene microRNA 591

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Bioinformatics analysis identifies DYNC1I1 as prognosis marker in male patients with liver hepatocellular carcinoma. Zhou J, et al. PLoS One, 2021. PMID 34679093, Free PMC Article
  2. Upregulation of the gene encoding a cytoplasmic dynein intermediate chain in senescent human cells. Horikawa I, et al. J Cell Biochem, 2001. PMID 11500918
  3. TNPO2 operates downstream of DYNC1I1 and promotes gastric cancer cell proliferation and inhibits apoptosis. Gong L, et al. Cancer Med, 2019 Dec. PMID 31605449, Free PMC Article
  4. Dynein interacts with the neural cell adhesion molecule (NCAM180) to tether dynamic microtubules and maintain synaptic density in cortical neurons. Perlson E, et al. J Biol Chem, 2013 Sep 27. PMID 23960070, Free PMC Article
  5. T-cell receptor signaling enhances transcriptional elongation from latent HIV proviruses by activating P-TEFb through an ERK-dependent pathway. Kim YK, et al. J Mol Biol, 2011 Jul 29. PMID 21763495, Free PMC Article

See all (68) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Bioinformatics analysis identifies DYNC1I1 as prognosis marker in male patients with liver hepatocellular carcinoma.
    Title: Bioinformatics analysis identifies DYNC1I1 as prognosis marker in male patients with liver hepatocellular carcinoma.
  2. TNPO2 operates downstream of DYNC1I1 and promotes gastric cancer cell proliferation and inhibits apoptosis.
    Title: TNPO2 operates downstream of DYNC1I1 and promotes gastric cancer cell proliferation and inhibits apoptosis.
  3. Thus, these findings demonstrate a tumor-suppressive function of DYNC1I1, and uncover new mechanistic insights into SK2 regulation which may have implications in targeting this enzyme as a therapeutic strategy in glioblastoma
    Title: Cytoplasmic dynein regulates the subcellular localization of sphingosine kinase 2 to elicit tumor-suppressive functions in glioblastoma.
  4. SQSTM1 is required for proper dynein motility and trafficking along microtubules.
    Title: Interaction of SQSTM1 with the motor protein dynein--SQSTM1 is required for normal dynein function and trafficking.
  5. Deletions of the exons with regulatory potential of DYNC1I1 are an example of the emerging role of exonic enhancer elements and their implications in congenital malformation syndromes
    Title: Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.
  6. Genome sequencing of the deletion breakpoints showed that the DLX5 and DLX6 genes are disomic but the putative DYNC1I1 exon 15 and 17 enhancers are deleted.
    Title: 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.
  7. NCAM and dynein have roles in tethering dynamic microtubules and maintaining synaptic density in cortical neurons
    Title: Dynein interacts with the neural cell adhesion molecule (NCAM180) to tether dynamic microtubules and maintain synaptic density in cortical neurons.
  8. Both P-TEFb recruitment to the HIV long terminal repeat and enhanced HIV processivity were blocked by ERK inhibitor, but not by AKT and PI3K inhibitors.
    Title: T-cell receptor signaling enhances transcriptional elongation from latent HIV proviruses by activating P-TEFb through an ERK-dependent pathway.
  9. the mRNA expression level of DYNC1I1 were significantly up-regulated in tumorous liver tissues compared with corresponding nontumorous counterparts.
    Title: Digital karyotyping reveals probable target genes at 7q21.3 locus in hepatocellular carcinoma.
  10. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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 PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cytoskeletal motor activity TAS
Traceable Author Statement
more info
 PubMed 
enables dynein heavy chain binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables dynein light chain binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables microtubule binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables microtubule motor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables spectrin binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in transport along microtubule IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in vesicle transport along microtubule IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in vesicle transport along microtubule ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
part_of cytoplasmic dynein complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of cytoplasmic dynein complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoplasmic ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in kinetochore IDA
Inferred from Direct Assay
more info
 PubMed 
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in recycling endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in spindle pole IDA
Inferred from Direct Assay
more info
 PubMed 
located_in vesicle IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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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)

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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_001135556.2 → NP_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/TrEMBL
    Q7Z6M0, Q8IY52
    Related
    ENSP00000392337.2, ENST00000447467.6
    Conserved Domains (3) summary
    sd00039
    Location:329 → 368
    7WD40; WD40 repeat [structural motif]
    pfam11540
    Location:130 → 156
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2
    cl29593
    Location:266 → 589
    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_001135557.2 → NP_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/TrEMBL
    Q7Z6M0, Q8IY52
    Related
    ENSP00000352348.4, ENST00000359388.8
    Conserved Domains (3) summary
    sd00039
    Location:309 → 348
    7WD40; WD40 repeat [structural motif]
    pfam11540
    Location:110 → 136
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2
    cl29593
    Location:246 → 569
    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_001278421.2 → NP_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/TrEMBL
    Q7Z6M0, Q8IY52
    Related
    ENSP00000398118.1, ENST00000437599.5
    Conserved Domains (3) summary
    sd00039
    Location:326 → 365
    7WD40; WD40 repeat [structural motif]
    pfam11540
    Location:127 → 153
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2
    cl29593
    Location:263 → 586
    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_001278422.2 → NP_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/TrEMBL
    Q7Z6M0, Q8IY52
    Related
    ENSP00000486363.1, ENST00000630942.2
    Conserved Domains (4) summary
    COG2319
    Location:160 → 570
    WD40; WD40 repeat [General function prediction only]
    pfam11540
    Location:110 → 136
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2
    sd00039
    Location:309 → 348
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:246 → 569
    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_004411.5 → NP_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
    B4DME3, F5H050, G5E9K1, O14576, Q8TBF7, Q9Y2X1
    UniProtKB/TrEMBL
    A4D1I7, Q7Z6M0, Q8IY52
    Related
    ENSP00000320130.6, ENST00000324972.10
    Conserved Domains (3) summary
    sd00039
    Location:346 → 385
    7WD40; WD40 repeat [structural motif]
    pfam11540
    Location:147 → 173
    Dynein_IC2; Cytoplasmic dynein 1 intermediate chain 2
    cl29593
    Location:283 → 606
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    95772554..96110322
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    97008421..97346216
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O14576.2 GenPept UniProtKB/Swiss-Prot:O14576

Gene LinkOut

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