• Gene id: 85440

Gene Summary

• Gene Symbol: DOCK7   Gene   UCSC   Ensembl
• Aliases: EIEE23, ZIR2
• Gene name: dedicator of cytokinesis 7
• Alternate names: dedicator of cytokinesis protein 7,
• Gene location: 1p31.3 (62688385: 62454725)     Exons: 5     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several tr
• OMIM: 615730

Protein Summary

• Protein general information: Q96N67  
  • Name: Dedicator of cytokinesis protein 7
  • Length: 2140  
  • Mass: 242561
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MAERRAFAQKISRTVAAEVRKQISGQYSGSPQLLKNLNIVGNISHHTTVPLTEAVDPVDLEDYLITHPLAVDSGP
  LRDLIEFPPDDIEVVYSPRDCRTLVSAVPEESEMDPHVRDCIRSYTEDWAIVIRKYHKLGTGFNPNTLDKQKERQ
  KGLPKQVFESDEAPDGNSYQDDQDDLKRRSMSIDDTPRGSWACSIFDLKNSLPDALLPNLLDRTPNEEIDRQNDD
  QRKSNRHKELFALHPSPDEEEPIERLSVPDIPKEHFGQRLLVKCLSLKFEIEIEPIFASLALYDVKEKKKISENF
  YFDLNSEQMKGLLRPHVPPAAITTLARSAIFSITYPSQDVFLVIKLEKVLQQGDIGECAEPYMIFKEADATKNKE
  KLEKLKSQADQFCQRLGKYRMPFAWTAIHLMNIVSSAGSLERDSTEVEISTGERKGSWSERRNSSIVGRRSLERT
  TSGDDACNLTSFRPATLTVTNFFKQEGDRLSDEDLYKFLADMRRPSSVLRRLRPITAQLKIDISPAPENPHYCLT
  PELLQVKLYPDSRVRPTREILEFPARDVYVPNTTYRNLLYIYPQSLNFANRQGSARNITVKVQFMYGEDPSNAMP
  VIFGKSSCSEFSKEAYTAVVYHNRSPDFHEEIKVKLPATLTDHHHLLFTFYHVSCQQKQNTPLETPVGYTWIPML
  QNGRLKTGQFCLPVSLEKPPQAYSVLSPEVPLPGMKWVDNHKGVFNVEVVAVSSIHTQDPYLDKFFALVNALDEH
  LFPVRIGDMRIMENNLENELKSSISALNSSQLEPVVRFLHLLLDKLILLVIRPPVIAGQIVNLGQASFEAMASII
  NRLHKNLEGNHDQHGRNSLLASYIHYVFRLPNTYPNSSSPGPGGLGGSVHYATMARSAVRPASLNLNRSRSLSNS
  NPDISGTPTSPDDEVRSIIGSKGLDRSNSWVNTGGPKAAPWGSNPSPSAESTQAMDRSCNRMSSHTETSSFLQTL
  TGRLPTKKLFHEELALQWVVCSGSVRESALQQAWFFFELMVKSMVHHLYFNDKLEAPRKSRFPERFMDDIAALVS
  TIASDIVSRFQKDTEMVERLNTSLAFFLNDLLSVMDRGFVFSLIKSCYKQVSSKLYSLPNPSVLVSLRLDFLRII
  CSHEHYVTLNLPCSLLTPPASPSPSVSSATSQSSGFSTNVQDQKIANMFELSVPFRQQHYLAGLVLTELAVILDP
  DAEGLFGLHKKVINMVHNLLSSHDSDPRYSDPQIKARVAMLYLPLIGIIMETVPQLYDFTETHNQRGRPICIATD
  DYESESGSMISQTVAMAIAGTSVPQLTRPGSFLLTSTSGRQHTTFSAESSRSLLICLLWVLKNADETVLQKWFTD
  LSVLQLNRLLDLLYLCVSCFEYKGKKVFERMNSLTFKKSKDMRAKLEEAILGSIGARQEMVRRSRGQLGTYTIAS
  PPERSPSGSAFGSQENLRWRKDMTHWRQNTEKLDKSRAEIEHEALIDGNLATEANLIILDTLEIVVQTVSVTESK
  ESILGGVLKVLLHSMACNQSAVYLQHCFATQRALVSKFPELLFEEETEQCADLCLRLLRHCSSSIGTIRSHASAS
  LYLLMRQNFEIGNNFARVKMQVTMSLSSLVGTSQNFNEEFLRRSLKTILTYAEEDLELRETTFPDQVQDLVFNLH
  MILSDTVKMKEHQEDPEMLIDLMYRIAKGYQTSPDLRLTWLQNMAGKHSERSNHAEAAQCLVHSAALVAEYLSML
  EDRKYLPVGCVTFQNISSNVLEESAVSDDVVSPDEEGICSGKYFTESGLVGLLEQAAASFSMAGMYEAVNEVYKV
  LIPIHEANRDAKKLSTIHGKLQEAFSKIVHQSTGWERMFGTYFRVGFYGTKFGDLDEQEFVYKEPAITKLAEISH
  RLEGFYGERFGEDVVEVIKDSNPVDKCKLDPNKAYIQITYVEPYFDTYEMKDRITYFDKNYNLRRFMYCTPFTLD
  GRAHGELHEQFKRKTILTTSHAFPYIKTRVNVTHKEEIILTPIEVAIEDMQKKTQELAFATHQDPADPKMLQMVL
  QGSVGTTVNQGPLEVAQVFLSEIPSDPKLFRHHNKLRLCFKDFTKRCEDALRKNKSLIGPDQKEYQRELERNYHR
  LKEALQPLINRKIPQLYKAVLPVTCHRDSFSRMSLRKMDL

• Structural information:
  • Protein Domains: (561..72-)
    (/note="C2-DOCK-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00983-)
    (1678..211-)
    (/note="DOCKER-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00984"-)
  • Interpro: IPR037808  IPR035892  IPR027007  IPR027357  IPR026791   IPR010703  IPR021816  
  • Prosite: PS51650 PS51651
  • CDD: cd08696
  • PDB: 6AJ4 6AJL
  • PDBsum: 6AJ4 6AJL
  • STRING: ENSP00000251157
• Other Databases: GeneCards:  DOCK7  Malacards:  DOCK7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008180	COP9 signalosome	IDA	colocalizes with
GO:0050767	regulation of neurogenesis	ISS	biological process
GO:0022027	interkinetic nuclear migration	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1904754	positive regulation of vascular associated smooth muscle cell migration	IMP	biological process
GO:0048365	Rac GTPase binding	IDA	molecular function
GO:0090630	activation of GTPase activity	IDA	biological process
GO:0030424	axon	TAS	cellular component
GO:0031175	neuron projection development	IMP	biological process
GO:0043005	neuron projection	TAS	cellular component
GO:0045178	basal part of cell	TAS	cellular component
GO:0000226	microtubule cytoskeleton organization	IMP	biological process
GO:0007409	axonogenesis	IMP	biological process
GO:0030426	growth cone	TAS	cellular component
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IMP	biological process
GO:0045200	establishment of neuroblast polarity	IMP	biological process
GO:0030424	axon	IEA	cellular component
GO:0120163	negative regulation of cold-induced thermogenesis	ISS	biological process
GO:0005925	focal adhesion	HDA	cellular component

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Early infantile epileptic encephalopathy	KEGG:H00606
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)