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Protein

Dedicator of cytokinesis protein 6

Gene

DOCK6

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

Functioni

Acts as guanine nucleotide exchange factor (GEF) for CDC42 and RAC1 small GTPases. Through its activation of CDC42 and RAC1, may regulate neurite outgrowth (By similarity).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Enzyme and pathway databases

ReactomeiR-HSA-983231 Factors involved in megakaryocyte development and platelet production

Names & Taxonomyi

Protein namesi
Recommended name:
Dedicator of cytokinesis protein 6
Gene namesi
Name:DOCK6
Synonyms:KIAA1395
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000130158.13
HGNCiHGNC:19189 DOCK6
MIMi614194 gene
neXtProtiNX_Q96HP0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Adams-Oliver syndrome 2 (AOS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins.
See also OMIM:614219

Organism-specific databases

DisGeNETi57572
MalaCardsiDOCK6
MIMi614219 phenotype
OpenTargetsiENSG00000130158
Orphaneti974 Adams-Oliver syndrome
PharmGKBiPA134913824

Polymorphism and mutation databases

BioMutaiDOCK6
DMDMi296439370

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001899931 – 2047Dedicator of cytokinesis protein 6Add BLAST2047

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei178PhosphoserineBy similarity1
Modified residuei865Omega-N-methylarginineBy similarity1
Modified residuei872PhosphoserineCombined sources1
Modified residuei880PhosphoserineCombined sources1
Modified residuei884PhosphoserineBy similarity1
Modified residuei1308PhosphoserineCombined sources1
Modified residuei2036PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ96HP0
MaxQBiQ96HP0
PaxDbiQ96HP0
PeptideAtlasiQ96HP0
PRIDEiQ96HP0
ProteomicsDBi76771

PTM databases

iPTMnetiQ96HP0
PhosphoSitePlusiQ96HP0

Expressioni

Tissue specificityi

Widely expressed. Expressed at low level in spleen, cerebellum, hippocampus and in substantia nigra.1 Publication

Gene expression databases

BgeeiENSG00000130158 Expressed in 199 organ(s), highest expression level in right lung
CleanExiHS_DOCK6
ExpressionAtlasiQ96HP0 baseline and differential
GenevisibleiQ96HP0 HS

Organism-specific databases

HPAiHPA049423
HPA049424

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121625, 28 interactors
IntActiQ96HP0, 21 interactors
STRINGi9606.ENSP00000294618

Structurei

3D structure databases

ProteinModelPortaliQ96HP0
SMRiQ96HP0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini548 – 714DHR-1PROSITE-ProRule annotationAdd BLAST167
Domaini1587 – 2023DHR-2PROSITE-ProRule annotationAdd BLAST437

Domaini

The DHR-2 domain may mediate some GEF activity.By similarity

Sequence similaritiesi

Belongs to the DOCK family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1997 Eukaryota
ENOG410XNVY LUCA
GeneTreeiENSGT00760000119234
HOGENOMiHOG000230910
HOVERGENiHBG051390
InParanoidiQ96HP0
KOiK21852
OMAiQYMAGED
OrthoDBiEOG091G0067
PhylomeDBiQ96HP0
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
IPR026798 DOCK6
IPR010703 DOCK_C
IPR021816 DOCK_C/D_N
PANTHERiPTHR23317 PTHR23317, 1 hit
PTHR23317:SF65 PTHR23317:SF65, 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

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

Q96HP0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAASERRAFA HKINRTVAAE VRKQVSRERS GSPHSSRRCS SSLGVPLTEV
60 70 80 90 100
VEPLDFEDVL LSRPPDAEPG PLRDLVEFPA DDLELLLQPR ECRTTEPGIP
110 120 130 140 150
KDEKLDAQVR AAVEMYIEDW VIVHRRYQYL SAAYSPVTTD TQRERQKGLP
160 170 180 190 200
RQVFEQDASG DERSGPEDSN DSRRGSGSPE DTPRSSGASS IFDLRNLAAD
210 220 230 240 250
SLLPSLLERA APEDVDRRNE TLRRQHRPPA LLTLYPAPDE DEAVERCSRP
260 270 280 290 300
EPPREHFGQR ILVKCLSLKF EIEIEPIFGI LALYDVREKK KISENFYFDL
310 320 330 340 350
NSDSMKGLLR AHGTHPAIST LARSAIFSVT YPSPDIFLVI KLEKVLQQGD
360 370 380 390 400
ISECCEPYMV LKEVDTAKNK EKLEKLRLAA EQFCTRLGRY RMPFAWTAVH
410 420 430 440 450
LANIVSSAGQ LDRDSDSEGE RRPAWTDRRR RGPQDRASSG DDACSFSGFR
460 470 480 490 500
PATLTVTNFF KQEAERLSDE DLFKFLADMR RPSSLLRRLR PVTAQLKIDI
510 520 530 540 550
SPAPENPHFC LSPELLHIKP YPDPRGRPTK EILEFPAREV YAPHTSYRNL
560 570 580 590 600
LYVYPHSLNF SSRQGSVRNL AVRVQYMTGE DPSQALPVIF GKSSCSEFTR
610 620 630 640 650
EAFTPVVYHN KSPEFYEEFK LHLPACVTEN HHLLFTFYHV SCQPRPGTAL
660 670 680 690 700
ETPVGFTWIP LLQHGRLRTG PFCLPVSVDQ PPPSYSVLTP DVALPGMRWV
710 720 730 740 750
DGHKGVFSVE LTAVSSVHPQ DPYLDKFFTL VHVLEEGAFP FRLKDTVLSE
760 770 780 790 800
GNVEQELRAS LAALRLASPE PLVAFSHHVL DKLVRLVIRP PIISGQIVNL
810 820 830 840 850
GRGAFEAMAH VVSLVHRSLE AAQDARGHCP QLAAYVHYAF RLPGTEPSLP
860 870 880 890 900
DGAPPVTVQA ATLARGSGRP ASLYLARSKS ISSSNPDLAV APGSVDDEVS
910 920 930 940 950
RILASKLLHE ELALQWVVSS SAVREAILQH AWFFFQLMVK SMALHLLLGQ
960 970 980 990 1000
RLDTPRKLRF PGRFLDDITA LVGSVGLEVI TRVHKDVELA EHLNASLAFF
1010 1020 1030 1040 1050
LSDLLSLVDR GFVFSLVRAH YKQVATRLQS SPNPAALLTL RMEFTRILCS
1060 1070 1080 1090 1100
HEHYVTLNLP CCPLSPPASP SPSVSSTTSQ SSTFSSQAPD PKVTSMFELS
1110 1120 1130 1140 1150
GPFRQQHFLA GLLLTELALA LEPEAEGAFL LHKKAISAVH SLLCGHDTDP
1160 1170 1180 1190 1200
RYAEATVKAR VAELYLPLLS IARDTLPRLH DFAEGPGQRS RLASMLDSDT
1210 1220 1230 1240 1250
EGEGDIAGTI NPSVAMAIAG GPLAPGSRAS ISQGPPTASR AGCALSAESS
1260 1270 1280 1290 1300
RTLLACVLWV LKNTEPALLQ RWATDLTLPQ LGRLLDLLYL CLAAFEYKGK
1310 1320 1330 1340 1350
KAFERINSLT FKKSLDMKAR LEEAILGTIG ARQEMVRRSR ERSPFGNPEN
1360 1370 1380 1390 1400
VRWRKSVTHW KQTSDRVDKT KDEMEHEALV EGNLATEASL VVLDTLEIIV
1410 1420 1430 1440 1450
QTVMLSEARE SVLGAVLKVV LYSLGSAQSA LFLQHGLATQ RALVSKFPEL
1460 1470 1480 1490 1500
LFEEDTELCA DLCLRLLRHC GSRISTIRTH ASASLYLLMR QNFEIGHNFA
1510 1520 1530 1540 1550
RVKMQVTMSL SSLVGTTQNF SEEHLRRSLK TILTYAEEDM GLRDSTFAEQ
1560 1570 1580 1590 1600
VQDLMFNLHM ILTDTVKMKE HQEDPEMLID LMYRIARGYQ GSPDLRLTWL
1610 1620 1630 1640 1650
QNMAGKHAEL GNHAEAAQCM VHAAALVAEY LALLEDHRHL PVGCVSFQNI
1660 1670 1680 1690 1700
SSNVLEESAI SDDILSPDEE GFCSGKHFTE LGLVGLLEQA AGYFTMGGLY
1710 1720 1730 1740 1750
EAVNEVYKNL IPILEAHRDY KKLAAVHGKL QEAFTKIMHQ SSGWERVFGT
1760 1770 1780 1790 1800
YFRVGFYGAH FGDLDEQEFV YKEPSITKLA EISHRLEEFY TERFGDDVVE
1810 1820 1830 1840 1850
IIKDSNPVDK SKLDSQKAYI QITYVEPYFD TYELKDRVTY FDRNYGLRTF
1860 1870 1880 1890 1900
LFCTPFTPDG RAHGELPEQH KRKTLLSTDH AFPYIKTRIR VCHREETVLT
1910 1920 1930 1940 1950
PVEVAIEDMQ KKTRELAFAT EQDPPDAKML QMVLQGSVGP TVNQGPLEVA
1960 1970 1980 1990 2000
QVFLAEIPED PKLFRHHNKL RLCFKDFCKK CEDALRKNKA LIGPDQKEYH
2010 2020 2030 2040
RELERNYCRL REALQPLLTQ RLPQLMAPTP PGLRNSLNRA SFRKADL
Length:2,047
Mass (Da):229,558
Last modified:May 18, 2010 - v3
Checksum:i6370F02FFF80D070
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ESB7K7ESB7_HUMAN
Dedicator of cytokinesis protein 6
DOCK6
1,336Annotation score:
K7EP20K7EP20_HUMAN
Dedicator of cytokinesis protein 6
DOCK6
464Annotation score:
K7EP51K7EP51_HUMAN
Dedicator of cytokinesis protein 6
DOCK6
148Annotation score:
K7EKT0K7EKT0_HUMAN
Dedicator of cytokinesis protein 6
DOCK6
184Annotation score:
K7ERK2K7ERK2_HUMAN
Dedicator of cytokinesis protein 6
DOCK6
98Annotation score:

Sequence cautioni

The sequence AAH08335 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA92633 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029830250P → L. Corresponds to variant dbSNP:rs12978266EnsemblClinVar.1
Natural variantiVAR_029831555P → L. Corresponds to variant dbSNP:rs12609039Ensembl.1
Natural variantiVAR_029832665G → R2 PublicationsCorresponds to variant dbSNP:rs17001264Ensembl.1
Natural variantiVAR_057522826R → C. Corresponds to variant dbSNP:rs35881692Ensembl.1
Natural variantiVAR_0298331420V → L. Corresponds to variant dbSNP:rs8108071Ensembl.1
Natural variantiVAR_0575231442A → T. Corresponds to variant dbSNP:rs34243815Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB037816 mRNA Translation: BAA92633.2 Different initiation.
AC009000 Genomic DNA No translation available.
AC011472 Genomic DNA No translation available.
BC008335 mRNA Translation: AAH08335.2 Different initiation.
BC051330 mRNA Translation: AAH51330.1
BC146786 mRNA Translation: AAI46787.1
CCDSiCCDS45975.1
RefSeqiNP_065863.2, NM_020812.3
UniGeneiHs.591002

Genome annotation databases

EnsembliENST00000294618; ENSP00000294618; ENSG00000130158
GeneIDi57572
KEGGihsa:57572
UCSCiuc002mqs.6 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB037816 mRNA Translation: BAA92633.2 Different initiation.
AC009000 Genomic DNA No translation available.
AC011472 Genomic DNA No translation available.
BC008335 mRNA Translation: AAH08335.2 Different initiation.
BC051330 mRNA Translation: AAH51330.1
BC146786 mRNA Translation: AAI46787.1
CCDSiCCDS45975.1
RefSeqiNP_065863.2, NM_020812.3
UniGeneiHs.591002

3D structure databases

ProteinModelPortaliQ96HP0
SMRiQ96HP0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121625, 28 interactors
IntActiQ96HP0, 21 interactors
STRINGi9606.ENSP00000294618

PTM databases

iPTMnetiQ96HP0
PhosphoSitePlusiQ96HP0

Polymorphism and mutation databases

BioMutaiDOCK6
DMDMi296439370

Proteomic databases

EPDiQ96HP0
MaxQBiQ96HP0
PaxDbiQ96HP0
PeptideAtlasiQ96HP0
PRIDEiQ96HP0
ProteomicsDBi76771

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000294618; ENSP00000294618; ENSG00000130158
GeneIDi57572
KEGGihsa:57572
UCSCiuc002mqs.6 human

Organism-specific databases

CTDi57572
DisGeNETi57572
EuPathDBiHostDB:ENSG00000130158.13
GeneCardsiDOCK6
H-InvDBiHIX0202696
HGNCiHGNC:19189 DOCK6
HPAiHPA049423
HPA049424
MalaCardsiDOCK6
MIMi614194 gene
614219 phenotype
neXtProtiNX_Q96HP0
OpenTargetsiENSG00000130158
Orphaneti974 Adams-Oliver syndrome
PharmGKBiPA134913824
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1997 Eukaryota
ENOG410XNVY LUCA
GeneTreeiENSGT00760000119234
HOGENOMiHOG000230910
HOVERGENiHBG051390
InParanoidiQ96HP0
KOiK21852
OMAiQYMAGED
OrthoDBiEOG091G0067
PhylomeDBiQ96HP0
TreeFamiTF313629

Enzyme and pathway databases

ReactomeiR-HSA-983231 Factors involved in megakaryocyte development and platelet production

Miscellaneous databases

ChiTaRSiDOCK6 human
GeneWikiiDock6
GenomeRNAii57572
PROiPR:Q96HP0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130158 Expressed in 199 organ(s), highest expression level in right lung
CleanExiHS_DOCK6
ExpressionAtlasiQ96HP0 baseline and differential
GenevisibleiQ96HP0 HS

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
IPR026798 DOCK6
IPR010703 DOCK_C
IPR021816 DOCK_C/D_N
PANTHERiPTHR23317 PTHR23317, 1 hit
PTHR23317:SF65 PTHR23317:SF65, 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
ProtoNetiSearch...

Entry informationi

Entry nameiDOCK6_HUMAN
AccessioniPrimary (citable) accession number: Q96HP0
Secondary accession number(s): A6H8X5, Q7Z7P4, Q9P2F2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 3, 2003
Last sequence update: May 18, 2010
Last modified: September 12, 2018
This is version 138 of the entry and version 3 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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