Human Gene DOCK5 (uc003xeg.3)
  Description: Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.
RefSeq Summary (NM_024940): This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family act as guanine nucleotide exchange factors for small Rho family G proteins. The protein encoded by this gene is thought to associate with adaptors CRK and CRKL, and function in regulation of intestinal epithelial cell spreading and migration on collagen IV. Similar proteins in mouse and zebrafish also function in myoblast fusion. [provided by RefSeq, Oct 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr8:25,042,287-25,270,619 Size: 228,333 Total Exon Count: 52 Strand: +
Coding Region
   Position: hg19 chr8:25,042,424-25,268,814 Size: 226,391 Coding Exon Count: 52 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:25,042,287-25,270,619)mRNA (may differ from genome)Protein (1870 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DOCK5_HUMAN
DESCRIPTION: RecName: Full=Dedicator of cytokinesis protein 5;
FUNCTION: Guanine nucleotide exchange factor (GEF) for Rho and Rac. GEF proteins activate small GTPases by exchanging bound GDP for free GTP.
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
DOMAIN: The DHR-2 domain may mediate some GEF activity (By similarity).
SIMILARITY: Belongs to the DOCK family.
SIMILARITY: Contains 1 DHR-1 domain.
SIMILARITY: Contains 1 DHR-2 domain.
SIMILARITY: Contains 1 SH3 domain.
SEQUENCE CAUTION: Sequence=BAB14962.1; Type=Erroneous initiation; Sequence=BAC86503.1; Type=Erroneous initiation;

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DOCK5
CDC HuGE Published Literature: DOCK5
Positive Disease Associations: Myocardial Infarction
Related Studies:
  1. Myocardial Infarction
    , , . [PubMed 0]

-  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: 11.94 RPKM in Nerve - Tibial
Total median expression: 197.97 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -67.00137-0.489 Picture PostScript Text
3' UTR -517.701805-0.287 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
IPR016024 - ARM-type_fold
IPR026791 - DOCK
IPR026799 - DOCK_A
IPR010703 - DOCK_C
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF06920 - Dock homology region 2
PF07653 - Variant SH3 domain
PF14429 - C2 domain in Dock180 and Zizimin proteins
PF14604 - Variant SH3 domain
PF16172 - DOCK N-terminus

SCOP Domains:
50044 - SH3-domain

ModBase Predicted Comparative 3D Structure on Q9H7D0
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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005515 protein binding

Biological Process:
GO:0007264 small GTPase mediated signal transduction
GO:0010634 positive regulation of epithelial cell migration
GO:1900026 positive regulation of substrate adhesion-dependent cell spreading
GO:1904694 negative regulation of vascular smooth muscle contraction
GO:1904754 positive regulation of vascular associated smooth muscle cell migration

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AK123607 - Homo sapiens cDNA FLJ41613 fis, clone CTONG3002412, moderately similar to Human DOCK180 protein mRNA.
BC137175 - Homo sapiens dedicator of cytokinesis 5, mRNA (cDNA clone MGC:168795 IMAGE:9021172), complete cds.
BC137176 - Homo sapiens dedicator of cytokinesis 5, mRNA (cDNA clone MGC:168796 IMAGE:9021173), complete cds.
CR749353 - Homo sapiens mRNA; cDNA DKFZp781J211 (from clone DKFZp781J211).
AK130123 - Homo sapiens cDNA FLJ26613 fis, clone MPB05565, highly similar to Serine/threonine protein phosphatase 2A, 55 KDA regulatory subunit B, alpha isoform.
BC015352 - Homo sapiens dedicator of cytokinesis 5, mRNA (cDNA clone IMAGE:4429918), with apparent retained intron.
BC011877 - Homo sapiens dedicator of cytokinesis 5, mRNA (cDNA clone IMAGE:3347029), complete cds.
JD129072 - Sequence 110096 from Patent EP1572962.
KJ903262 - Synthetic construct Homo sapiens clone ccsbBroadEn_12656 DOCK5 gene, encodes complete protein.
AL832744 - Homo sapiens mRNA; cDNA DKFZp686P1513 (from clone DKFZp686P1513).
CR933718 - Homo sapiens mRNA; cDNA DKFZp779M164 (from clone DKFZp779M164).
BX648352 - Homo sapiens mRNA; cDNA DKFZp686D14185 (from clone DKFZp686D14185).
AK024569 - Homo sapiens cDNA: FLJ20916 fis, clone ADSE00738, highly similar to AF161512 Homo sapiens HSPC163 mRNA.
AK126249 - Homo sapiens cDNA FLJ44261 fis, clone TLIVE2001327, moderately similar to Human DOCK180 protein mRNA.
BC041761 - Homo sapiens dedicator of cytokinesis 5, mRNA (cDNA clone IMAGE:3912471), partial cds.
CR627414 - Homo sapiens mRNA; cDNA DKFZp451J181 (from clone DKFZp451J181).
AK024687 - Homo sapiens cDNA: FLJ21034 fis, clone CAE09073.
JD535716 - Sequence 516740 from Patent EP1572962.
JD530124 - Sequence 511148 from Patent EP1572962.
AK022242 - Homo sapiens cDNA FLJ12180 fis, clone MAMMA1000744.
AK026663 - Homo sapiens cDNA: FLJ23010 fis, clone LNG00543.
JD398097 - Sequence 379121 from Patent EP1572962.
JD133995 - Sequence 115019 from Patent EP1572962.
JD062058 - Sequence 43082 from Patent EP1572962.
JD148524 - Sequence 129548 from Patent EP1572962.
JD070747 - Sequence 51771 from Patent EP1572962.
JD291633 - Sequence 272657 from Patent EP1572962.
JD179589 - Sequence 160613 from Patent EP1572962.
JD365284 - Sequence 346308 from Patent EP1572962.
JD493855 - Sequence 474879 from Patent EP1572962.
JD300835 - Sequence 281859 from Patent EP1572962.
JD225292 - Sequence 206316 from Patent EP1572962.
JD037731 - Sequence 18755 from Patent EP1572962.
JD412149 - Sequence 393173 from Patent EP1572962.
JD282710 - Sequence 263734 from Patent EP1572962.
JD310872 - Sequence 291896 from Patent EP1572962.
JD564134 - Sequence 545158 from Patent EP1572962.
JD301121 - Sequence 282145 from Patent EP1572962.
JD454311 - Sequence 435335 from Patent EP1572962.
JD248583 - Sequence 229607 from Patent EP1572962.
JD454814 - Sequence 435838 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H7D0 (Reactome details) participates in the following event(s):

R-HSA-1011598 DOCKs bind to RhoGEFs
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: B2RNY0, DOCK5_HUMAN, NM_024940, NP_079216, Q5XKD5, Q6AI11, Q6PJS6, Q6ZTS6, Q9H7D0
UCSC ID: uc003xeg.3
RefSeq Accession: NM_024940
Protein: Q9H7D0 (aka DOCK5_HUMAN or DOC5_HUMAN)
CCDS: CCDS6047.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_024940.6
exon count: 52CDS single in 3' UTR: no RNA size: 7555
ORF size: 5613CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 11360.00frame 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.