Human Gene DOCK7 (ENST00000635253.2_9) from GENCODE V47lift37
  Description: dedicator of cytokinesis 7, transcript variant 7 (from RefSeq NM_001367561.1)
Gencode Transcript: ENST00000635253.2_9
Gencode Gene: ENSG00000116641.18_21
Transcript (Including UTRs)
   Position: hg19 chr1:62,920,397-63,154,057 Size: 233,661 Total Exon Count: 50 Strand: -
Coding Region
   Position: hg19 chr1:62,921,085-63,153,935 Size: 232,851 Coding Exon Count: 50 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:62,920,397-63,154,057)mRNA (may differ from genome)Protein (2140 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DOCK7_HUMAN
DESCRIPTION: RecName: Full=Dedicator of cytokinesis protein 7;
FUNCTION: Functions as a guanine nucleotide exchange factor (GEF), which activates Rac1 and Rac3 Rho small GTPases by exchanging bound GDP for free GTP. Does not have a GEF activity for CDC42. Required for STMN1 'Ser-15' phosphorylation during axon formation and consequently for neuronal polarization.
SUBUNIT: Interacts with TSC1. Interacts with nucleotide-free RAC1 and RAC3.
SUBCELLULAR LOCATION: Cell projection, axon. Note=Enriched in the developing axons of hippocampal neurons.
TISSUE SPECIFICITY: Widely expressed.
DOMAIN: The DHR-2 domain mediates GEF activity.
SIMILARITY: Belongs to the DOCK family.
SIMILARITY: Contains 1 DHR-1 domain.
SIMILARITY: Contains 1 DHR-2 domain.
SEQUENCE CAUTION: Sequence=AAH16392.2; Type=Frameshift; Positions=1337; Sequence=ABC33725.1; Type=Frameshift; Positions=911; Sequence=BAB70933.1; Type=Erroneous initiation; Sequence=BAB71042.1; Type=Frameshift; Positions=1792; Sequence=BAC86032.1; 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


-  MalaCards Disease Associations
  MalaCards Gene Search: DOCK7
Diseases sorted by gene-association score: epileptic encephalopathy, early infantile, 23* (1369), cortical blindness (33), visual cortex disease (6), visual pathway disease (6)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -60.40122-0.495 Picture PostScript Text
3' UTR -116.00688-0.169 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
IPR026791 - DOCK
IPR010703 - DOCK_C
IPR021816 - DOCK_C/D_N
IPR026798 - DOCK_C_fam

Pfam Domains:
PF06920 - Dock homology region 2
PF11878 - Domain of unknown function (DUF3398)
PF14429 - C2 domain in Dock180 and Zizimin proteins

SCOP Domains:
48371 - ARM repeat

ModBase Predicted Comparative 3D Structure on Q96N67
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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 orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0048365 Rac GTPase binding

Biological Process:
GO:0000226 microtubule cytoskeleton organization
GO:0007264 small GTPase mediated signal transduction
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0007409 axonogenesis
GO:0022027 interkinetic nuclear migration
GO:0030154 cell differentiation
GO:0031175 neuron projection development
GO:0033138 positive regulation of peptidyl-serine phosphorylation
GO:0045200 establishment of neuroblast polarity
GO:0050767 regulation of neurogenesis
GO:0090630 activation of GTPase activity
GO:1904754 positive regulation of vascular associated smooth muscle cell migration

Cellular Component:
GO:0005622 intracellular
GO:0005925 focal adhesion
GO:0030424 axon
GO:0030426 growth cone
GO:0042995 cell projection
GO:0043005 neuron projection
GO:0045178 basal part of cell
GO:0008180 COP9 signalosome


-  Descriptions from all associated GenBank mRNAs
  AK125049 - Homo sapiens cDNA FLJ43059 fis, clone BRTHA3007769.
DQ341187 - Homo sapiens dedicator of cytokinesis 7 (DOCK7) mRNA, complete cds.
DQ118679 - Homo sapiens dedicator of cytokinesis 7 (DOCK7) mRNA, partial cds, alternatively spliced.
DQ118680 - Homo sapiens dedicator of cytokinesis 7 (DOCK7) mRNA, partial cds.
BC172250 - Synthetic construct Homo sapiens clone IMAGE:100068944, MGC:198955 dedicator of cytokinesis 7 (DOCK7) mRNA, encodes complete protein.
DQ309763 - Homo sapiens dedicator of cytokinesis 7 splice variant 3 (DOCK7) mRNA, complete cds, alternatively spliced.
AK055296 - Homo sapiens cDNA FLJ30734 fis, clone FEBRA2000220.
BC112387 - Homo sapiens dedicator of cytokinesis 7, mRNA (cDNA clone IMAGE:5492385), partial cds.
BC016392 - Homo sapiens dedicator of cytokinesis 7, mRNA (cDNA clone IMAGE:3863661), partial cds.
AK055493 - Homo sapiens cDNA FLJ30931 fis, clone FEBRA2006873, weakly similar to Trg protein.
AK055905 - Homo sapiens cDNA FLJ31343 fis, clone MESAN1000101, weakly similar to Rat trg gene product.
AK091479 - Homo sapiens cDNA FLJ34160 fis, clone FCBBF3013800, highly similar to Dedicator of cytokinesis protein 7.
AX747012 - Sequence 537 from Patent EP1308459.
AB051558 - Homo sapiens mRNA for KIAA1771 protein, partial cds.
AK299737 - Homo sapiens cDNA FLJ56240 complete cds, highly similar to Dedicator of cytokinesis protein 7.
BC018075 - Homo sapiens dedicator of cytokinesis 7, mRNA (cDNA clone IMAGE:4792506), with apparent retained intron.
BC018076 - Homo sapiens dedicator of cytokinesis 7, mRNA (cDNA clone IMAGE:4792507), with apparent retained intron.
BC041813 - Homo sapiens dedicator of cytokinesis 7, mRNA (cDNA clone IMAGE:5312863), with apparent retained intron.
AK022097 - Homo sapiens cDNA FLJ12035 fis, clone HEMBB1001910.
JD558017 - Sequence 539041 from Patent EP1572962.
JD329552 - Sequence 310576 from Patent EP1572962.
AK055401 - Homo sapiens cDNA FLJ30839 fis, clone FEBRA2002429.
AK292640 - Homo sapiens cDNA FLJ78567 complete cds.
BC040835 - Homo sapiens cDNA clone IMAGE:5301683.

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

Protein Q96N67 (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-8875555 MET activates RAP1 and RAC1
R-HSA-109582 Hemostasis
R-HSA-8875878 MET promotes cell motility
R-HSA-6806834 Signaling by MET
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: DOCK7_HUMAN, ENST00000635253.1, KIAA1771, NM_001367561, Q00M63, Q2PPY7, Q45RE8, Q45RE9, Q5T1B9, Q5T1C0, Q6ZV32, Q8TB82, Q96N67, Q96NG6, Q96NI0, Q9C092, uc328bke.1, uc328bke.2
UCSC ID: ENST00000635253.2_9
RefSeq Accession: NM_001367561.1
Protein: Q96N67 (aka DOCK7_HUMAN or DOC7_HUMAN)

-  Gene Model Information
  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.