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

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; 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: mouse all
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Genomic context

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A004Y38 (e-PCR)
- UniSTS:76289

SHGC-31822 (e-PCR)
- UniSTS:21762

RH121663 (e-PCR)
- UniSTS:134403

SHGC-56156 (e-PCR)
- UniSTS:64773

RH28673 (e-PCR)
- UniSTS:89111

D7S2344 (e-PCR)
- UniSTS:11296

SHGC-82807 (e-PCR)
- UniSTS:102438

STS-R44592 (e-PCR)
- UniSTS:21332

D7S2401 (e-PCR)
- UniSTS:64853

RH46992 (e-PCR)
- UniSTS:5464

D7S1905 (e-PCR)
- UniSTS:78438

D7S527 (e-PCR), detects polymorphism
- UniSTS:28778

D7S527 (e-PCR), detects polymorphism
- UniSTS:28779

G42166 (e-PCR)
- UniSTS:93295

RH78634 (e-PCR)
- UniSTS:42097

GDB:1318306 (e-PCR)
- UniSTS:46451

GDB:1317258 (e-PCR)
- UniSTS:49538

G19901 (e-PCR)
- UniSTS:42393

A002B38 (e-PCR)
- UniSTS:42394

1882 (e-PCR)
- UniSTS:74682

D7S527 (e-PCR), detects polymorphism
- UniSTS:76030

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)

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 ...
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 ...
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 ...
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 ...
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 ...