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Protein

Dedicator of cytokinesis protein 7

Gene

DOCK7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 (PubMed:16982419). Has a role in pigmentation (By similarity). Involved in the regulation of cortical neurogenesis through the control of radial glial cells (RGCs) proliferation versus differentiation; negatively regulates the basal-to-apical interkinetic nuclear migration of RGCs by antagonizing the microtubule growth-promoting function of TACC3 (By similarity).By similarity1 Publication

GO - Molecular functioni

  • guanyl-nucleotide exchange factor activity Source: UniProtKB-KW
  • Rac GTPase binding Source: BHF-UCL

GO - Biological processi

  • activation of GTPase activity Source: BHF-UCL
  • axonogenesis Source: BHF-UCL
  • establishment of neuroblast polarity Source: BHF-UCL
  • interkinetic nuclear migration Source: UniProtKB
  • microtubule cytoskeleton organization Source: BHF-UCL
  • neuron projection development Source: BHF-UCL
  • positive regulation of peptidyl-serine phosphorylation Source: BHF-UCL
  • positive regulation of vascular associated smooth muscle cell migration Source: BHF-UCL
  • regulation of neurogenesis Source: UniProtKB
  • small GTPase mediated signal transduction Source: InterPro

Keywordsi

Molecular functionDevelopmental protein, Guanine-nucleotide releasing factor
Biological processDifferentiation, Neurogenesis

Enzyme and pathway databases

ReactomeiR-HSA-8875555 MET activates RAP1 and RAC1
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
SIGNORiQ96N67

Names & Taxonomyi

Protein namesi
Recommended name:
Dedicator of cytokinesis protein 7
Gene namesi
Name:DOCK7
Synonyms:KIAA1771
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000116641.16
HGNCiHGNC:19190 DOCK7
MIMi615730 gene
neXtProtiNX_Q96N67

Subcellular locationi

Keywords - Cellular componenti

Cell projection

Pathology & Biotechi

Involvement in diseasei

Epileptic encephalopathy, early infantile, 23 (EIEE23)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe disease characterized by early-onset intractable epilepsy, dysmorphic features, intellectual disability, and cortical blindness. Brain imaging shows an abnormally marked pontobulbar sulcus with mild pontine hypoplasia, white matter abnormalities, and atrophy in the occipital lobe.
See also OMIM:615859

Keywords - Diseasei

Epilepsy

Organism-specific databases

DisGeNETi85440
MalaCardsiDOCK7
MIMi615859 phenotype
OpenTargetsiENSG00000116641
Orphaneti411986 Early onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
PharmGKBiPA134872825

Polymorphism and mutation databases

DMDMi122065170

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001899951 – 2140Dedicator of cytokinesis protein 7Add BLAST2140

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei30PhosphoserineCombined sources1
Modified residuei180PhosphoserineCombined sources1
Modified residuei182PhosphoserineCombined sources1
Modified residuei381N6-methyllysineCombined sources1
Modified residuei450PhosphothreonineBy similarity1
Modified residuei452PhosphoserineCombined sources1
Modified residuei862PhosphoserineBy similarity1
Modified residuei864PhosphoserineBy similarity1
Modified residuei882PhosphoserineCombined sources1
Modified residuei888PhosphoserineCombined sources1
Modified residuei896PhosphoserineCombined sources1
Modified residuei900PhosphoserineCombined sources1
Modified residuei905PhosphoserineCombined sources1
Modified residuei907PhosphothreonineCombined sources1
Modified residuei909PhosphothreonineCombined sources1
Modified residuei910PhosphoserineCombined sources1
Modified residuei929PhosphoserineCombined sources1
Modified residuei964PhosphoserineCombined sources1
Modified residuei1383PhosphoserineCombined sources1
Modified residuei1430PhosphoserineCombined sources1
Modified residuei1432PhosphoserineCombined sources1
Modified residuei1434PhosphoserineBy similarity1
Modified residuei1438PhosphoserineCombined sources1
Modified residuei1962N6-acetyllysineCombined sources1
Modified residuei2129PhosphoserineCombined sources1
Isoform 3 (identifier: Q96N67-3)
Modified residuei1390PhosphoserineCombined sources1
Modified residuei1394PhosphoserineCombined sources1
Modified residuei1398PhosphoserineCombined sources1
Isoform 4 (identifier: Q96N67-4)
Modified residuei1390PhosphoserineCombined sources1
Modified residuei1394PhosphoserineCombined sources1
Modified residuei1398PhosphoserineCombined sources1
Isoform 2 (identifier: Q96N67-2)
Modified residuei1421PhosphoserineCombined sources1
Modified residuei1425PhosphoserineCombined sources1
Modified residuei1429PhosphoserineCombined sources1
Isoform 6 (identifier: Q96N67-6)
Modified residuei1421PhosphoserineCombined sources1
Modified residuei1425PhosphoserineCombined sources1
Modified residuei1429PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

EPDiQ96N67
MaxQBiQ96N67
PaxDbiQ96N67
PeptideAtlasiQ96N67
PRIDEiQ96N67

PTM databases

iPTMnetiQ96N67
PhosphoSitePlusiQ96N67

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000116641
CleanExiHS_DOCK7
ExpressionAtlasiQ96N67 baseline and differential
GenevisibleiQ96N67 HS

Interactioni

Subunit structurei

Interacts with TSC1. Interacts with nucleotide-free RAC1 and RAC3. Interacts with TACC3 and CRY1 (By similarity).By similarity2 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • guanyl-nucleotide exchange factor activity Source: UniProtKB-KW
  • Rac GTPase binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi124527, 81 interactors
CORUMiQ96N67
ELMiQ96N67
IntActiQ96N67, 48 interactors
MINTiQ96N67
STRINGi9606.ENSP00000340742

Structurei

3D structure databases

ProteinModelPortaliQ96N67
SMRiQ96N67
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini561 – 727DHR-1PROSITE-ProRule annotationAdd BLAST167
Domaini1678 – 2114DHR-2PROSITE-ProRule annotationAdd BLAST437

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili365 – 395Sequence analysisAdd BLAST31
Coiled coili2086 – 2112Sequence analysisAdd BLAST27

Domaini

The DHR-2 domain mediates GEF activity.1 Publication

Sequence similaritiesi

Belongs to the DOCK family.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG1997 Eukaryota
ENOG410XNVY LUCA
GeneTreeiENSGT00760000119234
HOGENOMiHOG000122264
HOVERGENiHBG051390
InParanoidiQ96N67
KOiK21852
OMAiVKMKEYQ
OrthoDBiEOG091G0067
PhylomeDBiQ96N67
TreeFamiTF313629

Family and domain databases

CDDicd08696 C2_Dock-C, 1 hit
Gene3Di2.60.40.150, 1 hit
InterProiView protein in InterPro
IPR037808 C2_Dock-C
IPR035892 C2_domain_sf
IPR027007 DHR-1_domain
IPR027357 DHR-2
IPR026791 DOCK
IPR010703 DOCK_C
IPR021816 DOCK_C/D_N
PANTHERiPTHR23317 PTHR23317, 1 hit
PfamiView protein in Pfam
PF06920 DHR-2, 1 hit
PF14429 DOCK-C2, 1 hit
PF11878 DUF3398, 1 hit
PROSITEiView protein in PROSITE
PS51650 DHR_1, 1 hit
PS51651 DHR_2, 1 hit

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96N67-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAERRAFAQK ISRTVAAEVR KQISGQYSGS PQLLKNLNIV GNISHHTTVP
60 70 80 90 100
LTEAVDPVDL EDYLITHPLA VDSGPLRDLI EFPPDDIEVV YSPRDCRTLV
110 120 130 140 150
SAVPEESEMD PHVRDCIRSY TEDWAIVIRK YHKLGTGFNP NTLDKQKERQ
160 170 180 190 200
KGLPKQVFES DEAPDGNSYQ DDQDDLKRRS MSIDDTPRGS WACSIFDLKN
210 220 230 240 250
SLPDALLPNL LDRTPNEEID RQNDDQRKSN RHKELFALHP SPDEEEPIER
260 270 280 290 300
LSVPDIPKEH FGQRLLVKCL SLKFEIEIEP IFASLALYDV KEKKKISENF
310 320 330 340 350
YFDLNSEQMK GLLRPHVPPA AITTLARSAI FSITYPSQDV FLVIKLEKVL
360 370 380 390 400
QQGDIGECAE PYMIFKEADA TKNKEKLEKL KSQADQFCQR LGKYRMPFAW
410 420 430 440 450
TAIHLMNIVS SAGSLERDST EVEISTGERK GSWSERRNSS IVGRRSLERT
460 470 480 490 500
TSGDDACNLT SFRPATLTVT NFFKQEGDRL SDEDLYKFLA DMRRPSSVLR
510 520 530 540 550
RLRPITAQLK IDISPAPENP HYCLTPELLQ VKLYPDSRVR PTREILEFPA
560 570 580 590 600
RDVYVPNTTY RNLLYIYPQS LNFANRQGSA RNITVKVQFM YGEDPSNAMP
610 620 630 640 650
VIFGKSSCSE FSKEAYTAVV YHNRSPDFHE EIKVKLPATL TDHHHLLFTF
660 670 680 690 700
YHVSCQQKQN TPLETPVGYT WIPMLQNGRL KTGQFCLPVS LEKPPQAYSV
710 720 730 740 750
LSPEVPLPGM KWVDNHKGVF NVEVVAVSSI HTQDPYLDKF FALVNALDEH
760 770 780 790 800
LFPVRIGDMR IMENNLENEL KSSISALNSS QLEPVVRFLH LLLDKLILLV
810 820 830 840 850
IRPPVIAGQI VNLGQASFEA MASIINRLHK NLEGNHDQHG RNSLLASYIH
860 870 880 890 900
YVFRLPNTYP NSSSPGPGGL GGSVHYATMA RSAVRPASLN LNRSRSLSNS
910 920 930 940 950
NPDISGTPTS PDDEVRSIIG SKGLDRSNSW VNTGGPKAAP WGSNPSPSAE
960 970 980 990 1000
STQAMDRSCN RMSSHTETSS FLQTLTGRLP TKKLFHEELA LQWVVCSGSV
1010 1020 1030 1040 1050
RESALQQAWF FFELMVKSMV HHLYFNDKLE APRKSRFPER FMDDIAALVS
1060 1070 1080 1090 1100
TIASDIVSRF QKDTEMVERL NTSLAFFLND LLSVMDRGFV FSLIKSCYKQ
1110 1120 1130 1140 1150
VSSKLYSLPN PSVLVSLRLD FLRIICSHEH YVTLNLPCSL LTPPASPSPS
1160 1170 1180 1190 1200
VSSATSQSSG FSTNVQDQKI ANMFELSVPF RQQHYLAGLV LTELAVILDP
1210 1220 1230 1240 1250
DAEGLFGLHK KVINMVHNLL SSHDSDPRYS DPQIKARVAM LYLPLIGIIM
1260 1270 1280 1290 1300
ETVPQLYDFT ETHNQRGRPI CIATDDYESE SGSMISQTVA MAIAGTSVPQ
1310 1320 1330 1340 1350
LTRPGSFLLT STSGRQHTTF SAESSRSLLI CLLWVLKNAD ETVLQKWFTD
1360 1370 1380 1390 1400
LSVLQLNRLL DLLYLCVSCF EYKGKKVFER MNSLTFKKSK DMRAKLEEAI
1410 1420 1430 1440 1450
LGSIGARQEM VRRSRGQLGT YTIASPPERS PSGSAFGSQE NLRWRKDMTH
1460 1470 1480 1490 1500
WRQNTEKLDK SRAEIEHEAL IDGNLATEAN LIILDTLEIV VQTVSVTESK
1510 1520 1530 1540 1550
ESILGGVLKV LLHSMACNQS AVYLQHCFAT QRALVSKFPE LLFEEETEQC
1560 1570 1580 1590 1600
ADLCLRLLRH CSSSIGTIRS HASASLYLLM RQNFEIGNNF ARVKMQVTMS
1610 1620 1630 1640 1650
LSSLVGTSQN FNEEFLRRSL KTILTYAEED LELRETTFPD QVQDLVFNLH
1660 1670 1680 1690 1700
MILSDTVKMK EHQEDPEMLI DLMYRIAKGY QTSPDLRLTW LQNMAGKHSE
1710 1720 1730 1740 1750
RSNHAEAAQC LVHSAALVAE YLSMLEDRKY LPVGCVTFQN ISSNVLEESA
1760 1770 1780 1790 1800
VSDDVVSPDE EGICSGKYFT ESGLVGLLEQ AAASFSMAGM YEAVNEVYKV
1810 1820 1830 1840 1850
LIPIHEANRD AKKLSTIHGK LQEAFSKIVH QSTGWERMFG TYFRVGFYGT
1860 1870 1880 1890 1900
KFGDLDEQEF VYKEPAITKL AEISHRLEGF YGERFGEDVV EVIKDSNPVD
1910 1920 1930 1940 1950
KCKLDPNKAY IQITYVEPYF DTYEMKDRIT YFDKNYNLRR FMYCTPFTLD
1960 1970 1980 1990 2000
GRAHGELHEQ FKRKTILTTS HAFPYIKTRV NVTHKEEIIL TPIEVAIEDM
2010 2020 2030 2040 2050
QKKTQELAFA THQDPADPKM LQMVLQGSVG TTVNQGPLEV AQVFLSEIPS
2060 2070 2080 2090 2100
DPKLFRHHNK LRLCFKDFTK RCEDALRKNK SLIGPDQKEY QRELERNYHR
2110 2120 2130 2140
LKEALQPLIN RKIPQLYKAV LPVTCHRDSF SRMSLRKMDL
Length:2,140
Mass (Da):242,561
Last modified:January 9, 2007 - v4
Checksum:iA14857DCB9C3AE6E
GO
Isoform 2 (identifier: Q96N67-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1419-1427: Missing.
     1832-1836: STGWE → DGK

Show »
Length:2,129
Mass (Da):241,412
Checksum:i56C741287C8296C4
GO
Isoform 3 (identifier: Q96N67-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     923-953: Missing.
     1419-1427: Missing.

Show »
Length:2,100
Mass (Da):238,534
Checksum:i4A44093C2074BD4B
GO
Isoform 4 (identifier: Q96N67-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     923-953: Missing.
     1419-1427: Missing.
     1832-1836: STGWE → DGK

Show »
Length:2,098
Mass (Da):238,274
Checksum:iA768EB92CB1CDB3D
GO
Isoform 5 (identifier: Q96N67-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     923-953: Missing.

Show »
Length:2,109
Mass (Da):239,422
Checksum:i0171AA19EEB3B57F
GO
Isoform 6 (identifier: Q96N67-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1419-1427: Missing.

Show »
Length:2,131
Mass (Da):241,673
Checksum:i2C21C8938ACE0AD5
GO
Isoform 7 (identifier: Q96N67-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     601-632: VIFGKSSCSEFSKEAYTAVVYHNRSPDFHEEI → SPSCTHPIPTVRPLPLWCYHSIFSLLSWDFIT
     633-2140: Missing.

Note: No experimental confirmation available.
Show »
Length:632
Mass (Da):72,236
Checksum:i5CD59D3E484D8F1F
GO

Sequence cautioni

The sequence AAH16392 differs from that shown. Reason: Frameshift at position 1337.Curated
The sequence ABC33725 differs from that shown. Reason: Frameshift at position 911.Curated
The sequence BAB70933 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB71042 differs from that shown. Reason: Frameshift at position 1792.Curated
The sequence BAC86032 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti750H → R in BAC86032 (PubMed:14702039).Curated1
Sequence conflicti1440E → G in BAC86032 (PubMed:14702039).Curated1
Sequence conflicti1520S → N in BAB70933 (PubMed:14702039).Curated1
Sequence conflicti1521A → V in BAC86032 (PubMed:14702039).Curated1
Sequence conflicti1639P → L in BAC86032 (PubMed:14702039).Curated1
Sequence conflicti1859E → K in BAB70933 (PubMed:14702039).Curated1
Sequence conflicti1908K → T in BAB71042 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_057524824I → T. Corresponds to variant dbSNP:rs35400360EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_054534601 – 632VIFGK…FHEEI → SPSCTHPIPTVRPLPLWCYH SIFSLLSWDFIT in isoform 7. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_054535633 – 2140Missing in isoform 7. 1 PublicationAdd BLAST1508
Alternative sequenceiVSP_012440923 – 953Missing in isoform 3, isoform 4 and isoform 5. 2 PublicationsAdd BLAST31
Alternative sequenceiVSP_0222401419 – 1427Missing in isoform 2, isoform 3, isoform 4 and isoform 6. 4 Publications9
Alternative sequenceiVSP_0077071832 – 1836STGWE → DGK in isoform 2 and isoform 4. 4 Publications5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ341187 mRNA Translation: ABC68221.1
AK055401 mRNA Translation: BAB70917.1
AK055493 mRNA Translation: BAB70933.1 Different initiation.
AK055905 mRNA Translation: BAB71042.1 Frameshift.
AK125049 mRNA Translation: BAC86032.1 Different initiation.
AK292640 mRNA Translation: BAF85329.1
AC096946 Genomic DNA No translation available.
AC103923 Genomic DNA No translation available.
AL138847 Genomic DNA No translation available.
AL451044 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX06582.1
DQ309763 mRNA Translation: ABC33725.1 Frameshift.
DQ118679 mRNA Translation: AAZ38451.1
DQ118680 mRNA Translation: AAZ38452.1
AB051558 mRNA Translation: BAB21862.1
BC016392 mRNA Translation: AAH16392.2 Frameshift.
CCDSiCCDS30734.1 [Q96N67-5]
CCDS60156.1 [Q96N67-2]
CCDS60157.1 [Q96N67-7]
CCDS81335.1 [Q96N67-4]
CCDS81336.1 [Q96N67-3]
CCDS81338.1 [Q96N67-6]
RefSeqiNP_001258928.1, NM_001271999.1 [Q96N67-2]
NP_001258929.1, NM_001272000.1 [Q96N67-3]
NP_001258930.1, NM_001272001.1 [Q96N67-4]
NP_001258931.1, NM_001272002.1 [Q96N67-7]
NP_001317543.1, NM_001330614.1 [Q96N67-6]
NP_212132.2, NM_033407.3 [Q96N67-5]
XP_011540628.1, XM_011542326.2 [Q96N67-1]
UniGeneiHs.744927

Genome annotation databases

EnsembliENST00000251157; ENSP00000251157; ENSG00000116641 [Q96N67-6]
ENST00000340370; ENSP00000340742; ENSG00000116641 [Q96N67-5]
ENST00000404627; ENSP00000384446; ENSG00000116641 [Q96N67-7]
ENST00000454575; ENSP00000413583; ENSG00000116641 [Q96N67-2]
ENST00000634264; ENSP00000489284; ENSG00000116641 [Q96N67-3]
ENST00000635123; ENSP00000489499; ENSG00000116641 [Q96N67-4]
ENST00000635253; ENSP00000489124; ENSG00000116641 [Q96N67-1]
GeneIDi85440
KEGGihsa:85440
UCSCiuc001dap.5 human [Q96N67-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDOCK7_HUMAN
AccessioniPrimary (citable) accession number: Q96N67
Secondary accession number(s): Q00M63
, Q2PPY7, Q45RE8, Q45RE9, Q5T1B9, Q5T1C0, Q6ZV32, Q8TB82, Q96NG6, Q96NI0, Q9C092
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 3, 2003
Last sequence update: January 9, 2007
Last modified: May 23, 2018
This is version 147 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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