UniProtKB - Q8NF50 (DOCK8_HUMAN)
Dedicator of cytokinesis protein 8
DOCK8
Functioni
Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP (PubMed:28028151, PubMed:22461490).
During immune responses, required for interstitial dendritic cell (DC) migration by locally activating CDC42 at the leading edge membrane of DC (By similarity).
Required for CD4+ T-cell migration in response to chemokine stimulation by promoting CDC42 activation at T cell leading edge membrane (PubMed:28028151).
Is involved in NK cell cytotoxicity by controlling polarization of microtubule-organizing center (MTOC), and possibly regulating CCDC88B-mediated lytic granule transport to MTOC during cell killing (PubMed:25762780).
By similarity3 PublicationsGO - Molecular functioni
- guanyl-nucleotide exchange factor activity Source: UniProtKB
GO - Biological processi
- cellular response to chemokine Source: UniProtKB
- dendritic cell migration Source: Ensembl
- immunological synapse formation Source: Ensembl
- memory T cell proliferation Source: MGI
- negative regulation of T cell apoptotic process Source: Ensembl
- positive regulation of establishment of T cell polarity Source: UniProtKB
- positive regulation of GTPase activity Source: UniProtKB
- positive regulation of T cell migration Source: UniProtKB
- regulation of small GTPase mediated signal transduction Source: Reactome
- small GTPase mediated signal transduction Source: InterPro
Keywordsi
Molecular function | Guanine-nucleotide releasing factor |
Enzyme and pathway databases
PathwayCommonsi | Q8NF50 |
Reactomei | R-HSA-9013148, CDC42 GTPase cycle R-HSA-9013149, RAC1 GTPase cycle R-HSA-9013409, RHOJ GTPase cycle R-HSA-983231, Factors involved in megakaryocyte development and platelet production |
SignaLinki | Q8NF50 |
Names & Taxonomyi
Protein namesi | Recommended name: Dedicator of cytokinesis protein 8 |
Gene namesi | Name:DOCK8 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:19191, DOCK8 |
MIMi | 611432, gene |
neXtProti | NX_Q8NF50 |
VEuPathDBi | HostDB:ENSG00000107099 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Peripheral membrane protein 1 Publication; Cytoplasmic side Curated
- lamellipodium membrane 1 Publication; Peripheral membrane protein 1 Publication; Cytoplasmic side Curated
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Note: Enriched and co-localizes with GTPase CDC42 at the immunological synapse formed during T cell/antigen presenting cell cognate interaction. Translocates from the cytoplasm to the plasma membrane in response to chemokine CXCL12/SDF-1-alpha stimulation.1 Publication
Cytosol
- cytosol Source: Reactome
Plasma Membrane
- lamellipodium membrane Source: UniProtKB-SubCell
- leading edge membrane Source: UniProtKB
Other locations
- cell leading edge Source: GO_Central
- cytoplasm Source: UniProtKB
- membrane Source: UniProtKB
Keywords - Cellular componenti
Cell membrane, Cell projection, Cytoplasm, MembranePathology & Biotechi
Involvement in diseasei
Hyper-IgE recurrent infection syndrome 2, autosomal recessive (HIES2)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063753 | 473 | K → R in HIES2. 1 PublicationCorresponds to variant dbSNP:rs112321280EnsemblClinVar. | 1 |
Mental retardation, autosomal dominant 2 (MRD2)1 Publication
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 2077 | S → A: Abolishes phosphorylation. No migration in response to chemokine CXCL12/SDF-1-alpha stimulation; when associated with A-2082 and A-2087. 1 Publication | 1 | |
Mutagenesisi | 2077 | S → E: Phosphomimetic mutant. Enhances migration in response to chemokine CXCL12/SDF-1-alpha stimulation and reduces interaction with LRCH1; when associated with E-2082 and E-2087. 1 Publication | 1 | |
Mutagenesisi | 2082 | S → A: Abolishes phosphorylation. No migration in response to chemokine CXCL12/SDF-1-alpha stimulation; when associated with A-2077 and A-2087. 1 Publication | 1 | |
Mutagenesisi | 2082 | S → E: Phosphomimetic mutant. Enhances migration in response to chemokine CXCL12/SDF-1-alpha stimulation and reduces interaction with LRCH1; when associated with E-2077 and E-2087. 1 Publication | 1 | |
Mutagenesisi | 2087 | S → A: Abolishes phosphorylation. No migration in response to chemokine CXCL12/SDF-1-alpha stimulation; when associated with A-2077 and A-2082. 1 Publication | 1 | |
Mutagenesisi | 2087 | S → E: Phosphomimetic mutant. Enhances migration in response to chemokine CXCL12/SDF-1-alpha stimulation and reduces interaction with LRCH1; when associated with E-2077 and E-2082. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 81704 |
MalaCardsi | DOCK8 |
MIMi | 243700, phenotype 614113, phenotype |
OpenTargetsi | ENSG00000107099 |
Orphaneti | 178469, Autosomal dominant non-syndromic intellectual disability 217390, Combined immunodeficiency due to DOCK8 deficiency |
PharmGKBi | PA134918866 |
Miscellaneous databases
Pharosi | Q8NF50, Tbio |
Genetic variation databases
BioMutai | DOCK8 |
DMDMi | 158937439 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000189997 | 1 – 2099 | Dedicator of cytokinesis protein 8Add BLAST | 2099 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 20 | PhosphoserineCombined sources | 1 | |
Modified residuei | 139 | PhosphoserineCombined sources | 1 | |
Modified residuei | 451 | PhosphoserineCombined sources | 1 | |
Modified residuei | 904 | PhosphoserineBy similarity | 1 | |
Modified residuei | 936 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1145 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1243 | PhosphoserineBy similarity | 1 | |
Modified residuei | 2087 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q8NF50 |
jPOSTi | Q8NF50 |
MassIVEi | Q8NF50 |
MaxQBi | Q8NF50 |
PaxDbi | Q8NF50 |
PeptideAtlasi | Q8NF50 |
PRIDEi | Q8NF50 |
ProteomicsDBi | 20435 73260 [Q8NF50-1] 73261 [Q8NF50-2] 73262 [Q8NF50-3] |
PTM databases
GlyGeni | Q8NF50, 2 sites, 1 O-linked glycan (2 sites) |
iPTMneti | Q8NF50 |
PhosphoSitePlusi | Q8NF50 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000107099, Expressed in leukocyte and 205 other tissues |
ExpressionAtlasi | Q8NF50, baseline and differential |
Genevisiblei | Q8NF50, HS |
Organism-specific databases
HPAi | ENSG00000107099, Tissue enhanced (lymphoid) |
Interactioni
Subunit structurei
Interacts (via DOCKER domain) with GTPase CDC42; the interaction activates CDC42 by exchanging GDP for GTP (PubMed:22461490, PubMed:28028151). The unphosphorylated form interacts (via DOCKER domain) with LRCH1 (via LRR repeats); the interaction prevents the association between DOCK8 and CDC42 (PubMed:28028151).
Interacts with CCDC88B (PubMed:25762780).
3 PublicationsBinary interactionsi
Q8NF50
Isoform 2 [Q8NF50-2]
Isoform 3 [Q8NF50-3]
With | #Exp. | IntAct |
---|---|---|
LRCH4 [O75427] | 2 | EBI-25409271,EBI-718707 |
Isoform 4 [Q8NF50-4]
With | #Exp. | IntAct |
---|---|---|
COG6 [Q9Y2V7] | 3 | EBI-12021848,EBI-3866319 |
HSF2BP [O75031] | 3 | EBI-12021848,EBI-7116203 |
MEOX2 [Q6FHY5] | 3 | EBI-12021848,EBI-16439278 |
Protein-protein interaction databases
BioGRIDi | 123577, 119 interactors |
CORUMi | Q8NF50 |
IntActi | Q8NF50, 107 interactors |
MINTi | Q8NF50 |
STRINGi | 9606.ENSP00000394888 |
Miscellaneous databases
RNActi | Q8NF50, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 560 – 729 | C2 DOCK-typePROSITE-ProRule annotationAdd BLAST | 170 | |
Domaini | 1632 – 2066 | DOCKERPROSITE-ProRule annotationAdd BLAST | 435 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1997, Eukaryota |
GeneTreei | ENSGT00940000155876 |
HOGENOMi | CLU_000624_0_0_1 |
InParanoidi | Q8NF50 |
OMAi | VIAGQTX |
OrthoDBi | 20156at2759 |
PhylomeDBi | Q8NF50 |
TreeFami | TF313629 |
Family and domain databases
CDDi | cd08696, C2_Dock-C, 1 hit |
Gene3Di | 1.20.58.740, 1 hit 1.25.40.410, 1 hit 2.60.40.150, 1 hit |
InterProi | View protein in InterPro IPR016024, ARM-type_fold IPR037808, C2_Dock-C IPR027007, C2_DOCK-type_domain IPR035892, C2_domain_sf IPR026791, DOCK IPR021816, DOCK_C/D_N IPR043161, DOCK_C_lobe_A IPR043162, DOCK_C_lobe_C IPR027357, DOCKER_dom |
PANTHERi | PTHR23317, PTHR23317, 1 hit |
Pfami | View protein in Pfam PF06920, DHR-2, 1 hit PF14429, DOCK-C2, 1 hit PF11878, DUF3398, 1 hit |
SUPFAMi | SSF48371, SSF48371, 1 hit |
PROSITEi | View protein in PROSITE PS51650, C2_DOCK, 1 hit PS51651, DOCKER, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MATLPSAERR AFALKINRYS SAEIRKQFTL PPNLGQYHRQ SISTSGFPSL
60 70 80 90 100
QLPQFYDPVE PVDFEGLLMT HLNSLDVQLA QELGDFTDDD LDVVFTPKEC
110 120 130 140 150
RTLQPSLPEE GVELDPHVRD CVQTYIREWL IVNRKNQGSP EICGFKKTGS
160 170 180 190 200
RKDFHKTLPK QTFESETLEC SEPAAQAGPR HLNVLCDVSG KGPVTACDFD
210 220 230 240 250
LRSLQPDKRL ENLLQQVSAE DFEKQNEEAR RTNRQAELFA LYPSVDEEDA
260 270 280 290 300
VEIRPVPECP KEHLGNRILV KLLTLKFEIE IEPLFASIAL YDVKERKKIS
310 320 330 340 350
ENFHCDLNSD QFKGFLRAHT PSVAASSQAR SAVFSVTYPS SDIYLVVKIE
360 370 380 390 400
KVLQQGEIGD CAEPYTVIKE SDGGKSKEKI EKLKLQAESF CQRLGKYRMP
410 420 430 440 450
FAWAPISLSS FFNVSTLERE VTDVDSVVGR SSVGERRTLA QSRRLSERAL
460 470 480 490 500
SLEENGVGSN FKTSTLSVSS FFKQEGDRLS DEDLFKFLAD YKRSSSLQRR
510 520 530 540 550
VKSIPGLLRL EISTAPEIIN CCLTPEMLPV KPFPENRTRP HKEILEFPTR
560 570 580 590 600
EVYVPHTVYR NLLYVYPQRL NFVNKLASAR NITIKIQFMC GEDASNAMPV
610 620 630 640 650
IFGKSSGPEF LQEVYTAVTY HNKSPDFYEE VKIKLPAKLT VNHHLLFTFY
660 670 680 690 700
HISCQQKQGA SVETLLGYSW LPILLNERLQ TGSYCLPVAL EKLPPNYSMH
710 720 730 740 750
SAEKVPLQNP PIKWAEGHKG VFNIEVQAVS SVHTQDNHLE KFFTLCHSLE
760 770 780 790 800
SQVTFPIRVL DQKISEMALE HELKLSIICL NSSRLEPLVL FLHLVLDKLF
810 820 830 840 850
QLSVQPMVIA GQTANFSQFA FESVVAIANS LHNSKDLSKD QHGRNCLLAS
860 870 880 890 900
YVHYVFRLPE VQRDVPKSGA PTALLDPRSY HTYGRTSAAA VSSKLLQARV
910 920 930 940 950
MSSSNPDLAG THSAADEEVK NIMSSKIADR NCSRMSYYCS GSSDAPSSPA
960 970 980 990 1000
APRPASKKHF HEELALQMVV STGMVRETVF KYAWFFFELL VKSMAQHVHN
1010 1020 1030 1040 1050
MDKRDSFRRT RFSDRFMDDI TTIVNVVTSE IAALLVKPQK ENEQAEKMNI
1060 1070 1080 1090 1100
SLAFFLYDLL SLMDRGFVFN LIRHYCSQLS AKLSNLPTLI SMRLEFLRIL
1110 1120 1130 1140 1150
CSHEHYLNLN LFFMNADTAP TSPCPSISSQ NSSSCSSFQD QKIASMFDLT
1160 1170 1180 1190 1200
SEYRQQHFLT GLLFTELAAA LDAEGEGISK VQRKAVSAIH SLLSSHDLDP
1210 1220 1230 1240 1250
RCVKPEVKVK IAALYLPLVG IILDALPQLC DFTVADTRRY RTSGSDEEQE
1260 1270 1280 1290 1300
GAGAINQNVA LAIAGNNFNL KTSGIVLSSL PYKQYNMLNA DTTRNLMICF
1310 1320 1330 1340 1350
LWIMKNADQS LIRKWIADLP STQLNRILDL LFICVLCFEY KGKQSSDKVS
1360 1370 1380 1390 1400
TQVLQKSRDV KARLEEALLR GEGARGEMMR RRAPGNDRFP GLNENLRWKK
1410 1420 1430 1440 1450
EQTHWRQANE KLDKTKAELD QEALISGNLA TEAHLIILDM QENIIQASSA
1460 1470 1480 1490 1500
LDCKDSLLGG VLRVLVNSLN CDQSTTYLTH CFATLRALIA KFGDLLFEEE
1510 1520 1530 1540 1550
VEQCFDLCHQ VLHHCSSSMD VTRSQACATL YLLMRFSFGA TSNFARVKMQ
1560 1570 1580 1590 1600
VTMSLASLVG RAPDFNEEHL RRSLRTILAY SEEDTAMQMT PFPTQVEELL
1610 1620 1630 1640 1650
CNLNSILYDT VKMREFQEDP EMLMDLMYRI AKSYQASPDL RLTWLQNMAE
1660 1670 1680 1690 1700
KHTKKKCYTE AAMCLVHAAA LVAEYLSMLE DHSYLPVGSV SFQNISSNVL
1710 1720 1730 1740 1750
EESVVSEDTL SPDEDGVCAG QYFTESGLVG LLEQAAELFS TGGLYETVNE
1760 1770 1780 1790 1800
VYKLVIPILE AHREFRKLTL THSKLQRAFD SIVNKDHKRM FGTYFRVGFF
1810 1820 1830 1840 1850
GSKFGDLDEQ EFVYKEPAIT KLPEISHRLE AFYGQCFGAE FVEVIKDSTP
1860 1870 1880 1890 1900
VDKTKLDPNK AYIQITFVEP YFDEYEMKDR VTYFEKNFNL RRFMYTTPFT
1910 1920 1930 1940 1950
LEGRPRGELH EQYRRNTVLT TMHAFPYIKT RISVIQKEEF VLTPIEVAIE
1960 1970 1980 1990 2000
DMKKKTLQLA VAINQEPPDA KMLQMVLQGS VGATVNQGPL EVAQVFLAEI
2010 2020 2030 2040 2050
PADPKLYRHH NKLRLCFKEF IMRCGEAVEK NKRLITADQR EYQQELKKNY
2060 2070 2080 2090
NKLKENLRPM IERKIPELYK PIFRVESQKR DSFHRSSFRK CETQLSQGS
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA2A369 | A2A369_HUMAN | Dedicator of cytokinesis protein 8 | DOCK8 | 1,936 | Annotation score: | ||
A0A804HK14 | A0A804HK14_HUMAN | Dedicator of cytokinesis protein 8 | DOCK8 | 187 | Annotation score: | ||
C9J7A3 | C9J7A3_HUMAN | Dedicator of cytokinesis protein 8 | DOCK8 | 107 | Annotation score: | ||
E9PDJ4 | E9PDJ4_HUMAN | Dedicator of cytokinesis protein 8 | DOCK8 | 503 | Annotation score: | ||
F8WC95 | F8WC95_HUMAN | Dedicator of cytokinesis protein 8 | DOCK8 | 66 | Annotation score: | ||
E9PHZ4 | E9PHZ4_HUMAN | Dedicator of cytokinesis protein 8 | DOCK8 | 50 | Annotation score: | ||
A0A8I5KQK5 | A0A8I5KQK5_HUMAN | Dedicator of cytokinesis protein 8 | DOCK8 | 64 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 22 | A → V in BAE45254 (Ref. 1) Curated | 1 | |
Sequence conflicti | 470 | S → I in AAI30519 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 470 | S → I in AAI43930 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 600 | V → VV in CAI46160 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 1751 | V → F in BAB84907 (Ref. 6) Curated | 1 | |
Sequence conflicti | 1755 | V → F in BAB84907 (Ref. 6) Curated | 1 | |
Sequence conflicti | 1927 | Y → F in AAI30519 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 1927 | Y → F in AAI43930 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 2029 | E → K in AAG42221 (PubMed:10729223).Curated | 1 | |
Sequence conflicti | 2046 | L → F in AAG42221 (PubMed:10729223).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_033888 | 97 | P → T1 PublicationCorresponds to variant dbSNP:rs529208EnsemblClinVar. | 1 | |
Natural variantiVAR_059972 | 169 | E → K. Corresponds to variant dbSNP:rs11789099EnsemblClinVar. | 1 | |
Natural variantiVAR_033889 | 237 | E → K. Corresponds to variant dbSNP:rs11789099EnsemblClinVar. | 1 | |
Natural variantiVAR_033890 | 413 | N → S1 PublicationCorresponds to variant dbSNP:rs10970979EnsemblClinVar. | 1 | |
Natural variantiVAR_063753 | 473 | K → R in HIES2. 1 PublicationCorresponds to variant dbSNP:rs112321280EnsemblClinVar. | 1 | |
Natural variantiVAR_033891 | 597 | A → V. Corresponds to variant dbSNP:rs17673268EnsemblClinVar. | 1 | |
Natural variantiVAR_071964 | 652 | I → V1 PublicationCorresponds to variant dbSNP:rs1381340726Ensembl. | 1 | |
Natural variantiVAR_033892 | 1008 | R → W. Corresponds to variant dbSNP:rs16937932EnsemblClinVar. | 1 | |
Natural variantiVAR_033893 | 1970 | A → P1 PublicationCorresponds to variant dbSNP:rs34908836EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_039838 | 1 – 68 | Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST | 68 | |
Alternative sequenceiVSP_027373 | 927 – 958 | Missing in isoform 2 and isoform 4. 1 PublicationAdd BLAST | 32 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB191037 mRNA Translation: BAE45254.1 AL158832 Genomic DNA No translation available. AL161725 Genomic DNA No translation available. BC019102 mRNA Translation: AAH19102.2 BC112894 mRNA Translation: AAI12895.1 BC130518 mRNA Translation: AAI30519.1 BC143929 mRNA Translation: AAI43930.1 AL583913 mRNA Translation: CAC29497.1 AL832270 mRNA Translation: CAI46160.1 Different initiation. AK090429 mRNA Translation: BAC03410.1 AK074081 mRNA Translation: BAB84907.1 Frameshift. AK024436 mRNA Translation: BAB15726.1 AF194407 mRNA Translation: AAG42221.1 Frameshift. |
CCDSi | CCDS55283.1 [Q8NF50-3] CCDS55284.1 [Q8NF50-4] CCDS6440.2 [Q8NF50-1] |
RefSeqi | NP_001177387.1, NM_001190458.1 [Q8NF50-4] NP_001180465.1, NM_001193536.1 [Q8NF50-3] NP_982272.2, NM_203447.3 [Q8NF50-1] XP_011516347.1, XM_011518045.2 [Q8NF50-4] XP_011516349.1, XM_011518047.2 [Q8NF50-3] XP_011516350.1, XM_011518048.2 [Q8NF50-3] XP_016870662.1, XM_017015173.1 [Q8NF50-3] |
Genome annotation databases
Ensembli | ENST00000432829.7; ENSP00000394888.3; ENSG00000107099.18 ENST00000453981.5; ENSP00000408464.2; ENSG00000107099.18 [Q8NF50-3] ENST00000469391.5; ENSP00000419438.1; ENSG00000107099.18 [Q8NF50-4] |
GeneIDi | 81704 |
KEGGi | hsa:81704 |
MANE-Selecti | ENST00000432829.7; ENSP00000394888.3; NM_203447.4; NP_982272.2 |
UCSCi | uc003zgf.2, human [Q8NF50-1] |
Keywords - Coding sequence diversityi
Alternative splicing, Chromosomal rearrangementSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB191037 mRNA Translation: BAE45254.1 AL158832 Genomic DNA No translation available. AL161725 Genomic DNA No translation available. BC019102 mRNA Translation: AAH19102.2 BC112894 mRNA Translation: AAI12895.1 BC130518 mRNA Translation: AAI30519.1 BC143929 mRNA Translation: AAI43930.1 AL583913 mRNA Translation: CAC29497.1 AL832270 mRNA Translation: CAI46160.1 Different initiation. AK090429 mRNA Translation: BAC03410.1 AK074081 mRNA Translation: BAB84907.1 Frameshift. AK024436 mRNA Translation: BAB15726.1 AF194407 mRNA Translation: AAG42221.1 Frameshift. |
CCDSi | CCDS55283.1 [Q8NF50-3] CCDS55284.1 [Q8NF50-4] CCDS6440.2 [Q8NF50-1] |
RefSeqi | NP_001177387.1, NM_001190458.1 [Q8NF50-4] NP_001180465.1, NM_001193536.1 [Q8NF50-3] NP_982272.2, NM_203447.3 [Q8NF50-1] XP_011516347.1, XM_011518045.2 [Q8NF50-4] XP_011516349.1, XM_011518047.2 [Q8NF50-3] XP_011516350.1, XM_011518048.2 [Q8NF50-3] XP_016870662.1, XM_017015173.1 [Q8NF50-3] |
3D structure databases
AlphaFoldDBi | Q8NF50 |
SMRi | Q8NF50 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 123577, 119 interactors |
CORUMi | Q8NF50 |
IntActi | Q8NF50, 107 interactors |
MINTi | Q8NF50 |
STRINGi | 9606.ENSP00000394888 |
PTM databases
GlyGeni | Q8NF50, 2 sites, 1 O-linked glycan (2 sites) |
iPTMneti | Q8NF50 |
PhosphoSitePlusi | Q8NF50 |
Genetic variation databases
BioMutai | DOCK8 |
DMDMi | 158937439 |
Proteomic databases
EPDi | Q8NF50 |
jPOSTi | Q8NF50 |
MassIVEi | Q8NF50 |
MaxQBi | Q8NF50 |
PaxDbi | Q8NF50 |
PeptideAtlasi | Q8NF50 |
PRIDEi | Q8NF50 |
ProteomicsDBi | 20435 73260 [Q8NF50-1] 73261 [Q8NF50-2] 73262 [Q8NF50-3] |
Protocols and materials databases
Antibodypediai | 758, 292 antibodies from 27 providers |
DNASUi | 81704 |
Genome annotation databases
Ensembli | ENST00000432829.7; ENSP00000394888.3; ENSG00000107099.18 ENST00000453981.5; ENSP00000408464.2; ENSG00000107099.18 [Q8NF50-3] ENST00000469391.5; ENSP00000419438.1; ENSG00000107099.18 [Q8NF50-4] |
GeneIDi | 81704 |
KEGGi | hsa:81704 |
MANE-Selecti | ENST00000432829.7; ENSP00000394888.3; NM_203447.4; NP_982272.2 |
UCSCi | uc003zgf.2, human [Q8NF50-1] |
Organism-specific databases
CTDi | 81704 |
DisGeNETi | 81704 |
GeneCardsi | DOCK8 |
HGNCi | HGNC:19191, DOCK8 |
HPAi | ENSG00000107099, Tissue enhanced (lymphoid) |
MalaCardsi | DOCK8 |
MIMi | 243700, phenotype 611432, gene 614113, phenotype |
neXtProti | NX_Q8NF50 |
OpenTargetsi | ENSG00000107099 |
Orphaneti | 178469, Autosomal dominant non-syndromic intellectual disability 217390, Combined immunodeficiency due to DOCK8 deficiency |
PharmGKBi | PA134918866 |
VEuPathDBi | HostDB:ENSG00000107099 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1997, Eukaryota |
GeneTreei | ENSGT00940000155876 |
HOGENOMi | CLU_000624_0_0_1 |
InParanoidi | Q8NF50 |
OMAi | VIAGQTX |
OrthoDBi | 20156at2759 |
PhylomeDBi | Q8NF50 |
TreeFami | TF313629 |
Enzyme and pathway databases
PathwayCommonsi | Q8NF50 |
Reactomei | R-HSA-9013148, CDC42 GTPase cycle R-HSA-9013149, RAC1 GTPase cycle R-HSA-9013409, RHOJ GTPase cycle R-HSA-983231, Factors involved in megakaryocyte development and platelet production |
SignaLinki | Q8NF50 |
Miscellaneous databases
BioGRID-ORCSi | 81704, 9 hits in 1077 CRISPR screens |
ChiTaRSi | DOCK8, human |
GeneWikii | Dock8 |
GenomeRNAii | 81704 |
Pharosi | Q8NF50, Tbio |
PROi | PR:Q8NF50 |
RNActi | Q8NF50, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000107099, Expressed in leukocyte and 205 other tissues |
ExpressionAtlasi | Q8NF50, baseline and differential |
Genevisiblei | Q8NF50, HS |
Family and domain databases
CDDi | cd08696, C2_Dock-C, 1 hit |
Gene3Di | 1.20.58.740, 1 hit 1.25.40.410, 1 hit 2.60.40.150, 1 hit |
InterProi | View protein in InterPro IPR016024, ARM-type_fold IPR037808, C2_Dock-C IPR027007, C2_DOCK-type_domain IPR035892, C2_domain_sf IPR026791, DOCK IPR021816, DOCK_C/D_N IPR043161, DOCK_C_lobe_A IPR043162, DOCK_C_lobe_C IPR027357, DOCKER_dom |
PANTHERi | PTHR23317, PTHR23317, 1 hit |
Pfami | View protein in Pfam PF06920, DHR-2, 1 hit PF14429, DOCK-C2, 1 hit PF11878, DUF3398, 1 hit |
SUPFAMi | SSF48371, SSF48371, 1 hit |
PROSITEi | View protein in PROSITE PS51650, C2_DOCK, 1 hit PS51651, DOCKER, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | DOCK8_HUMAN | |
Accessioni | Q8NF50Primary (citable) accession number: Q8NF50 Secondary accession number(s): A2A350 Q9H7P2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 3, 2003 |
Last sequence update: | August 21, 2007 | |
Last modified: | May 25, 2022 | |
This is version 174 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families