Human Gene DYNC1I1 (ENST00000359388.8) from GENCODE V44
  Description: Homo sapiens dynein cytoplasmic 1 intermediate chain 1 (DYNC1I1), transcript variant 3, mRNA. (from RefSeq NM_001135557)
Gencode Transcript: ENST00000359388.8
Gencode Gene: ENSG00000158560.14
Transcript (Including UTRs)
   Position: hg38 chr7:95,772,598-96,098,424 Size: 325,827 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg38 chr7:95,804,730-96,097,593 Size: 292,864 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:95,772,598-96,098,424)mRNA (may differ from genome)Protein (608 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DC1I1_HUMAN
DESCRIPTION: RecName: Full=Cytoplasmic dynein 1 intermediate chain 1; AltName: Full=Cytoplasmic dynein intermediate chain 1; AltName: Full=Dynein intermediate chain 1, cytosolic; Short=DH IC-1;
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.
SUBUNIT: 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).
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle pole.
SIMILARITY: Belongs to the dynein intermediate chain family.
SIMILARITY: Contains 7 WD repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DYNC1I1
Diseases sorted by gene-association score: paranoid personality disorder (18), split hand-foot malformation 2 (12), split foot (7), split hand-split foot malformation (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 36.06 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 331.09 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -84.00185-0.454 Picture PostScript Text
3' UTR -199.20831-0.240 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR025956 - Dynein_IC_1/2
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF11540 - Cytoplasmic dynein 1 intermediate chain 2
PF00400 - WD domain, G-beta repeat

ModBase Predicted Comparative 3D Structure on O14576
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003774 motor activity
GO:0003777 microtubule motor activity
GO:0005515 protein binding
GO:0008017 microtubule binding
GO:0030507 spectrin binding
GO:0045503 dynein light chain binding
GO:0045504 dynein heavy chain binding
GO:0008574 ATP-dependent microtubule motor activity, plus-end-directed

Biological Process:
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0007018 microtubule-based movement
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0047496 vesicle transport along microtubule
GO:2000582 positive regulation of ATP-dependent microtubule motor activity, plus-end-directed

Cellular Component:
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0000777 condensed chromosome kinetochore
GO:0000922 spindle pole
GO:0005634 nucleus
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005868 cytoplasmic dynein complex
GO:0005874 microtubule
GO:0030286 dynein complex
GO:0031982 vesicle
GO:0036464 cytoplasmic ribonucleoprotein granule
GO:0048471 perinuclear region of cytoplasm
GO:0055037 recycling endosome


-  Descriptions from all associated GenBank mRNAs
  AK091339 - Homo sapiens cDNA FLJ34020 fis, clone FCBBF2002904, highly similar to DYNEIN INTERMEDIATE CHAIN 1, CYTOSOLIC.
BC032945 - Homo sapiens dynein, cytoplasmic 1, intermediate chain 1, mRNA (cDNA clone MGC:33107 IMAGE:4801387), complete cds.
AK313148 - Homo sapiens cDNA, FLJ93640, Homo sapiens dynein, cytoplasmic, intermediate polypeptide 1(DNCI1), mRNA.
BC053542 - Homo sapiens dynein, cytoplasmic 1, intermediate chain 1, mRNA (cDNA clone MGC:61489 IMAGE:5727968), complete cds.
BC037854 - Homo sapiens dynein, cytoplasmic 1, intermediate chain 1, mRNA (cDNA clone MGC:42314 IMAGE:4817657), complete cds.
AF063228 - Homo sapiens cytoplasmic dynein intermediate chain 1 mRNA, complete cds.
AK297427 - Homo sapiens cDNA FLJ59721 complete cds, highly similar to Cytoplasmic dynein 1 intermediate chain 1.
BC022540 - Homo sapiens dynein, cytoplasmic 1, intermediate chain 1, mRNA (cDNA clone MGC:26796 IMAGE:4793415), complete cds.
AF123074 - Homo sapiens cytoplasmic dynein intermediate chain 1 mRNA, complete cds.
BC012504 - Homo sapiens dynein, cytoplasmic 1, intermediate chain 1, mRNA (cDNA clone IMAGE:4708704), with apparent retained intron.
AK309419 - Homo sapiens cDNA, FLJ99460.
CU691514 - Synthetic construct Homo sapiens gateway clone IMAGE:100017437 5' read DYNC1I1 mRNA.
CU689576 - Synthetic construct Homo sapiens gateway clone IMAGE:100020398 5' read DYNC1I1 mRNA.
CU692684 - Synthetic construct Homo sapiens gateway clone IMAGE:100017436 5' read DYNC1I1 mRNA.
AB463590 - Synthetic construct DNA, clone: pF1KB8374, Homo sapiens DYNC1I1 gene for dynein, cytoplasmic 1, intermediate chain 1, without stop codon, in Flexi system.
KJ905729 - Synthetic construct Homo sapiens clone ccsbBroadEn_15399 DYNC1I1 gene, encodes complete protein.
KJ896716 - Synthetic construct Homo sapiens clone ccsbBroadEn_06110 DYNC1I1 gene, encodes complete protein.
KJ896717 - Synthetic construct Homo sapiens clone ccsbBroadEn_06111 DYNC1I1 gene, encodes complete protein.
JD401509 - Sequence 382533 from Patent EP1572962.
JD458062 - Sequence 439086 from Patent EP1572962.
JD189571 - Sequence 170595 from Patent EP1572962.
JD289306 - Sequence 270330 from Patent EP1572962.
JD200341 - Sequence 181365 from Patent EP1572962.
JD373055 - Sequence 354079 from Patent EP1572962.
JD458555 - Sequence 439579 from Patent EP1572962.
LF207031 - JP 2014500723-A/14534: Polycomb-Associated Non-Coding RNAs.
MA442608 - JP 2018138019-A/14534: Polycomb-Associated Non-Coding RNAs.
LF360350 - JP 2014500723-A/167853: Polycomb-Associated Non-Coding RNAs.
MA595927 - JP 2018138019-A/167853: Polycomb-Associated Non-Coding RNAs.
JD124481 - Sequence 105505 from Patent EP1572962.
JD123395 - Sequence 104419 from Patent EP1572962.
JD116435 - Sequence 97459 from Patent EP1572962.
JD514353 - Sequence 495377 from Patent EP1572962.
JD503190 - Sequence 484214 from Patent EP1572962.
JD283725 - Sequence 264749 from Patent EP1572962.
JD232471 - Sequence 213495 from Patent EP1572962.
JD506125 - Sequence 487149 from Patent EP1572962.
JD266183 - Sequence 247207 from Patent EP1572962.
JD285614 - Sequence 266638 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04962 - Vasopressin-regulated water reabsorption

Reactome (by CSHL, EBI, and GO)

Protein O14576 (Reactome details) participates in the following event(s):

R-HSA-141409 Mad1 binds kinetochore
R-HSA-375302 Kinetochore capture of astral microtubules
R-HSA-5666129 CDC42:GTP recruits DIAPH2-2 to kinetochores
R-HSA-5666169 Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2
R-HSA-6809003 ERGIC-to-Golgi vesicles bind dynein:dynactin
R-HSA-6809006 Vesicle is tethered through binding GOLGA2:GORASP1, GOLGB1 and the COG complex
R-HSA-141431 MAD2 associates with the Mad1 kinetochore complex
R-HSA-141439 Release of activated MAD2 from kinetochores
R-HSA-2467811 Separation of sister chromatids
R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin
R-HSA-5666160 AURKB phosphorylates DIAPH2-2 at kinetochores
R-HSA-8849350 RAB6:GTP displaces PAFAH1B1 from dynein:dynactin complex
R-HSA-141422 MAD2 converted to an inhibitory state via interaction with Mad1
R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin
R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres
R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-68877 Mitotic Prometaphase
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-2132295 MHC class II antigen presentation
R-HSA-6807878 COPI-mediated anterograde transport
R-HSA-6811436 COPI-independent Golgi-to-ER retrograde traffic
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-141424 Amplification of signal from the kinetochores
R-HSA-68886 M Phase
R-HSA-195258 RHO GTPase Effectors
R-HSA-1280218 Adaptive Immune System
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-8856688 Golgi-to-ER retrograde transport
R-HSA-68882 Mitotic Anaphase
R-HSA-69618 Mitotic Spindle Checkpoint
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-194315 Signaling by Rho GTPases
R-HSA-168256 Immune System
R-HSA-199991 Membrane Trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-1640170 Cell Cycle
R-HSA-162582 Signal Transduction
R-HSA-5653656 Vesicle-mediated transport
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: DC1I1_HUMAN, DNCI1, DNCIC1, ENST00000359388.1, ENST00000359388.2, ENST00000359388.3, ENST00000359388.4, ENST00000359388.5, ENST00000359388.6, ENST00000359388.7, NM_001135557, O14576, Q9Y2X1, uc003uob.1, uc003uob.2, uc003uob.3, uc003uob.4
UCSC ID: ENST00000359388.8
RefSeq Accession: NM_001135557
Protein: O14576 (aka DC1I1_HUMAN)
CCDS: CCDS47645.1, CCDS47646.1, CCDS64718.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.