Human Gene DCTN6 (uc003xhy.3) Description and Page Index
  Description: Homo sapiens dynactin 6 (DCTN6), mRNA.
RefSeq Summary (NM_006571): The protein encoded by this gene contains an RGD (Arg-Gly-Asp) motif in the N-terminal region, which confers adhesive properties to macromolecular proteins like fibronectin. It shares a high degree of sequence similarity with the mouse homolog, which has been suggested to play a role in mitochondrial biogenesis. The exact biological function of this gene is not known. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.517648.1, SRR3476690.1104743.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221114.8/ ENSP00000221114.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr8:30,013,813-30,041,155 Size: 27,343 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr8:30,013,900-30,040,689 Size: 26,790 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:30,013,813-30,041,155)mRNA (may differ from genome)Protein (190 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKB

-  Comments and Description Text from UniProtKB
  ID: DCTN6_HUMAN
DESCRIPTION: RecName: Full=Dynactin subunit 6; AltName: Full=Dynactin subunit p27; AltName: Full=Protein WS-3;
SUBUNIT: Member of the pointed-end complex of the dynactin shoulder complex which contains DCTN4, DCTN5 and DCTN6 subunits and ACTR10 (By similarity).
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity).
TISSUE SPECIFICITY: Ubiquitous.
SIMILARITY: Belongs to the dynactin subunits 5/6 family. Dynactin subunit 6 subfamily.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DCTN6
CDC HuGE Published Literature: DCTN6
Positive Disease Associations: Pulse
Related Studies:
  1. Pulse
    Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics. [PubMed 17903302]
    These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.54 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 786.59 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 -25.7087-0.295 Picture PostScript Text
3' UTR -84.10466-0.180 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
IPR001451 - Hexapep_transf
IPR011004 - Trimer_LpxA-like

Pfam Domains:
PF00132 - Bacterial transferase hexapeptide (six repeats)

SCOP Domains:
51161 - Trimeric LpxA-like enzymes

Protein Data Bank (PDB) 3-D Structure
MuPIT help

3TV0
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O00399
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
   FlyBaseWormBase 
   Protein SequenceProtein Sequence 
   AlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II

Cellular Component:
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0000777 condensed chromosome kinetochore
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005869 dynactin complex


-  Descriptions from all associated GenBank mRNAs
  D84145 - Homo sapiens WS-3 mRNA, complete cds.
AK314128 - Homo sapiens cDNA, FLJ94825, Homo sapiens dynactin 6 (DCTN6), mRNA.
BC013175 - Homo sapiens dynactin 6, mRNA (cDNA clone MGC:8931 IMAGE:3925231), complete cds.
HQ448326 - Synthetic construct Homo sapiens clone IMAGE:100071744; CCSB000858_04 dynactin 6 (DCTN6) gene, encodes complete protein.
KJ893107 - Synthetic construct Homo sapiens clone ccsbBroadEn_02501 DCTN6 gene, encodes complete protein.
CR456851 - Homo sapiens full open reading frame cDNA clone RZPDo834G086D for gene DCTN6, dynactin 6; complete cds, incl. stopcodon.
JD351791 - Sequence 332815 from Patent EP1572962.
JD523580 - Sequence 504604 from Patent EP1572962.
JD040670 - Sequence 21694 from Patent EP1572962.
JD307719 - Sequence 288743 from Patent EP1572962.
JD082304 - Sequence 63328 from Patent EP1572962.

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

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

Reactome (by CSHL, EBI, and GO)

Protein O00399 (Reactome details) participates in the following event(s):

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-8849350 RAB6:GTP displaces PAFAH1B1 from dynein:dynactin complex
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-1280218 Adaptive Immune System
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-8856688 Golgi-to-ER retrograde transport
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-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: B2RAC1, DCTN6_HUMAN, NM_006571, NP_006562, O00399, WS3
UCSC ID: uc003xhy.3
RefSeq Accession: NM_006571
Protein: O00399 (aka DCTN6_HUMAN or DCT6_HUMAN)
CCDS: CCDS6076.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_006571.3
exon count: 7CDS single in 3' UTR: no RNA size: 1126
ORF size: 573CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1315.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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