Human Gene DCTN1 (ENST00000361874.8) from GENCODE V44
  Description: dynactin subunit 1 (from HGNC DCTN1)
RefSeq Summary (NM_004082): This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008].
Gencode Transcript: ENST00000361874.8
Gencode Gene: ENSG00000204843.13
Transcript (Including UTRs)
   Position: hg38 chr2:74,361,154-74,380,355 Size: 19,202 Total Exon Count: 31 Strand: -
Coding Region
   Position: hg38 chr2:74,361,499-74,380,037 Size: 18,539 Coding Exon Count: 31 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
GeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:74,361,154-74,380,355)mRNA (may differ from genome)Protein (1273 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGencodeGeneCards
HGNCMalacardsMGIPubMedUniProtKBWikipedia

-  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: DCTN1
Diseases sorted by gene-association score: perry syndrome* (1724), neuropathy, distal hereditary motor, type viib* (1300), amyotrophic lateral sclerosis 1* (637), distal hereditary motor neuropathy type 7* (247), bradyopsia* (231), respiratory failure (12), motor neuron disease (11), miyoshi muscular dystrophy 1 (11), oculogyric crisis (11), lateral sclerosis (10), neuromuscular disease (9), mental depression (8), bardet-biedl syndrome 4 (7), mental retardation and microcephaly with pontine and cerebellar hypoplasia (6), muscular atrophy (5), bardet-biedl syndrome (2), dementia, frontotemporal (1), retinitis pigmentosa (0)
* = Manually curated disease association

-  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: 58.06 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 1418.93 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 -129.60318-0.408 Picture PostScript Text
3' UTR -104.50345-0.303 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.

-  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 orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD Ensembl  
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  Descriptions from all associated GenBank mRNAs
  KJ896692 - Synthetic construct Homo sapiens clone ccsbBroadEn_06086 DCTN1 gene, encodes complete protein.
KJ901377 - Synthetic construct Homo sapiens clone ccsbBroadEn_10771 DCTN1 gene, encodes complete protein.
KR711415 - Synthetic construct Homo sapiens clone CCSBHm_00023465 DCTN1 (DCTN1) mRNA, encodes complete protein.
KR711416 - Synthetic construct Homo sapiens clone CCSBHm_00023466 DCTN1 (DCTN1) mRNA, encodes complete protein.
KR711417 - Synthetic construct Homo sapiens clone CCSBHm_00023467 DCTN1 (DCTN1) mRNA, encodes complete protein.
KR711418 - Synthetic construct Homo sapiens clone CCSBHm_00023469 DCTN1 (DCTN1) mRNA, encodes complete protein.
AF207661 - Homo sapiens sodium bicarbonate cotransporter-like protein mRNA, partial cds.
LF207232 - JP 2014500723-A/14735: Polycomb-Associated Non-Coding RNAs.
MA442809 - JP 2018138019-A/14735: Polycomb-Associated Non-Coding RNAs.
BC006163 - Homo sapiens dynactin 1 (p150, glued homolog, Drosophila), mRNA (cDNA clone IMAGE:3937065).
AK055298 - Homo sapiens cDNA FLJ30736 fis, clone FEBRA2000282, highly similar to DYNACTIN, 150 KDA ISOFORM.
X98801 - H.sapiens mRNA for dynactin.
BX647972 - Homo sapiens mRNA; cDNA DKFZp686E0752 (from clone DKFZp686E0752).
BC071583 - Homo sapiens dynactin 1 (p150, glued homolog, Drosophila), mRNA (cDNA clone MGC:87265 IMAGE:4817849), complete cds.
BC013978 - Homo sapiens cDNA clone IMAGE:4298741, containing frame-shift errors.
BX640799 - Homo sapiens mRNA; cDNA DKFZp686I0746 (from clone DKFZp686I0746).
BX647925 - Homo sapiens mRNA; cDNA DKFZp686E191 (from clone DKFZp686E191).
AB209625 - Homo sapiens mRNA for dynactin 1 isoform 1 variant protein.
AK297286 - Homo sapiens cDNA FLJ56465 complete cds, highly similar to Dynactin-1.
JD431386 - Sequence 412410 from Patent EP1572962.
LF363308 - JP 2014500723-A/170811: Polycomb-Associated Non-Coding RNAs.
MA598885 - JP 2018138019-A/170811: Polycomb-Associated Non-Coding RNAs.
AK311081 - Homo sapiens cDNA, FLJ18123.
JD113452 - Sequence 94476 from Patent EP1572962.
JD554755 - Sequence 535779 from Patent EP1572962.
JD264389 - Sequence 245413 from Patent EP1572962.
JD198699 - Sequence 179723 from Patent EP1572962.
LF363307 - JP 2014500723-A/170810: Polycomb-Associated Non-Coding RNAs.
MA598884 - JP 2018138019-A/170810: Polycomb-Associated Non-Coding RNAs.
JD137737 - Sequence 118761 from Patent EP1572962.
JD391305 - Sequence 372329 from Patent EP1572962.
JD067859 - Sequence 48883 from Patent EP1572962.
AK315014 - Homo sapiens cDNA, FLJ95946.
AK314352 - Homo sapiens cDNA, FLJ95116.
BT006758 - Homo sapiens dynactin 1 (p150, glued homolog, Drosophila) mRNA, complete cds.
CU675279 - Synthetic construct Homo sapiens gateway clone IMAGE:100020253 5' read DCTN1 mRNA.
EU831597 - Synthetic construct Homo sapiens clone HAIB:100066626; DKFZo007B0619 dynactin 1 (p150, glued homolog, Drosophila) protein (DCTN1) gene, encodes complete protein.
EU831684 - Synthetic construct Homo sapiens clone HAIB:100066713; DKFZo003B0620 dynactin 1 (p150, glued homolog, Drosophila) protein (DCTN1) gene, encodes complete protein.
LF363305 - JP 2014500723-A/170808: Polycomb-Associated Non-Coding RNAs.
MA598882 - JP 2018138019-A/170808: Polycomb-Associated Non-Coding RNAs.
LF363304 - JP 2014500723-A/170807: Polycomb-Associated Non-Coding RNAs.
MA598881 - JP 2018138019-A/170807: Polycomb-Associated Non-Coding RNAs.
LF363303 - JP 2014500723-A/170806: Polycomb-Associated Non-Coding RNAs.
MA598880 - JP 2018138019-A/170806: Polycomb-Associated Non-Coding RNAs.
U90445 - Human p150Glued homolog mRNA, partial cds.
LF363302 - JP 2014500723-A/170805: Polycomb-Associated Non-Coding RNAs.
MA598879 - JP 2018138019-A/170805: Polycomb-Associated Non-Coding RNAs.
LF363301 - JP 2014500723-A/170804: Polycomb-Associated Non-Coding RNAs.
MA598878 - JP 2018138019-A/170804: Polycomb-Associated Non-Coding RNAs.
LF363300 - JP 2014500723-A/170803: Polycomb-Associated Non-Coding RNAs.
MA598877 - JP 2018138019-A/170803: Polycomb-Associated Non-Coding RNAs.
LF363299 - JP 2014500723-A/170802: Polycomb-Associated Non-Coding RNAs.
MA598876 - JP 2018138019-A/170802: Polycomb-Associated Non-Coding RNAs.
LF363298 - JP 2014500723-A/170801: Polycomb-Associated Non-Coding RNAs.
MA598875 - JP 2018138019-A/170801: Polycomb-Associated Non-Coding RNAs.
LF363297 - JP 2014500723-A/170800: Polycomb-Associated Non-Coding RNAs.
MA598874 - JP 2018138019-A/170800: Polycomb-Associated Non-Coding RNAs.
LF363296 - JP 2014500723-A/170799: Polycomb-Associated Non-Coding RNAs.
MA598873 - JP 2018138019-A/170799: Polycomb-Associated Non-Coding RNAs.
LF363295 - JP 2014500723-A/170798: Polycomb-Associated Non-Coding RNAs.
MA598872 - JP 2018138019-A/170798: Polycomb-Associated Non-Coding RNAs.
LF363294 - JP 2014500723-A/170797: Polycomb-Associated Non-Coding RNAs.
MA598871 - JP 2018138019-A/170797: Polycomb-Associated Non-Coding RNAs.
LF363293 - JP 2014500723-A/170796: Polycomb-Associated Non-Coding RNAs.
MA598870 - JP 2018138019-A/170796: Polycomb-Associated Non-Coding RNAs.
LF363292 - JP 2014500723-A/170795: Polycomb-Associated Non-Coding RNAs.
MA598869 - JP 2018138019-A/170795: Polycomb-Associated Non-Coding RNAs.
LF363291 - JP 2014500723-A/170794: Polycomb-Associated Non-Coding RNAs.
MA598868 - JP 2018138019-A/170794: Polycomb-Associated Non-Coding RNAs.
U73799 - Human dynactin mRNA, partial cds.
LF363283 - JP 2014500723-A/170786: Polycomb-Associated Non-Coding RNAs.
MA598860 - JP 2018138019-A/170786: Polycomb-Associated Non-Coding RNAs.
JD498878 - Sequence 479902 from Patent EP1572962.
JD190453 - Sequence 171477 from Patent EP1572962.
JD255175 - Sequence 236199 from Patent EP1572962.
JD174228 - Sequence 155252 from Patent EP1572962.
JD335752 - Sequence 316776 from Patent EP1572962.
JD124102 - Sequence 105126 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_Lis1Pathway - Lissencephaly gene (LIS1) in neuronal migration and development

-  Other Names for This Gene
  Alternate Gene Symbols: A0A804CDA6, BX640799, ENST00000361874.1, ENST00000361874.2, ENST00000361874.3, ENST00000361874.4, ENST00000361874.5, ENST00000361874.6, ENST00000361874.7, uc002skx.1, uc002skx.2, uc002skx.3, uc002skx.4
UCSC ID: ENST00000361874.8
RefSeq Accession: NM_004082

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DCTN1:
als-overview (Amyotrophic Lateral Sclerosis Overview)
perry (DCTN1-Related Neurodegeneration)

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