DOCK8
entrez
81704
canonical
uniprot
Q8NF50
canonical
ensembl
ENSG00000107099
resolver
ensp
ENSP00000371766
resolver
ensp
ENSP00000394888
resolver
ensp
ENSP00000408464
resolver
ensp
ENSP00000419438
resolver
genesymbol
DOCK8
resolver
hgnc
HGNC:19191
resolver
uniprot
A2A350
resolver
uniprot
A2BDF2
resolver
uniprot
A4FU78
resolver
uniprot
B7ZLP0
resolver
uniprot
E2J6M5
resolver
uniprot
E2J6M6
resolver
uniprot
E9PH09
resolver
uniprot
Q3MV16
resolver
uniprot
Q5JPJ1
resolver
uniprot
Q8TEP1
resolver
uniprot
Q8WUY2
resolver
uniprot
Q9BYJ5
resolver
uniprot
Q9H1Q2
resolver
uniprot
Q9H1Q3
resolver
uniprot
Q9H308
resolver
uniprot
Q9H7P2
resolver
uniprot_entry
DOCK8_HUMAN
resolver
uniprot_entry
E2J6M5_HUMAN
resolver
uniprot_entry
E2J6M6_HUMAN
resolver
uniprot_sec
A2A350
resolver
uniprot_sec
A2BDF2
resolver
uniprot_sec
A4FU78
resolver
uniprot_sec
B7ZLP0
resolver
uniprot_sec
E9PH09
resolver
uniprot_sec
Q3MV16
resolver
uniprot_sec
Q5JPJ1
resolver
uniprot_sec
Q8TEP1
resolver
uniprot_sec
Q8WUY2
resolver
uniprot_sec
Q9BYJ5
resolver
uniprot_sec
Q9H1Q2
resolver
uniprot_sec
Q9H1Q3
resolver
uniprot_sec
Q9H308
resolver
uniprot_sec
Q9H7P2
resolver
amino_acid_sequence
MATLPSAERRAFALKINRYSSAEIRKQFTLPPNLGQYHRQSISTSGFPSLQLPQFYDPVEPVDFEGLLMTHLNSLDVQLAQELGDFTDDDLDVVFTPKECRTLQPSLPEEGVELDPHVRDCVQTYIREWLIVNRKNQGSPEICGFKKTGSRKDFHKTLPKQTFESETLECSEPAAQAGPRHLNVLCDVSGKGPVTACDFDLRSLQPDKRLENLLQQVSAEDFEKQNEEARRTNRQAELFALYPSVDEEDAVEIRPVPECPKEHLGNRILVKLLTLKFEIEIEPLFASIALYDVKERKKISENFHCDLNSDQFKGFLRAHTPSVAASSQARSAVFSVTYPSSDIYLVVKIEKVLQQGEIGDCAEPYTVIKESDGGKSKEKIEKLKLQAESFCQRLGKYRMPFAWAPISLSSFFNVSTLEREVTDVDSVVGRSSVGERRTLAQSRRLSERALSLEENGVGSNFKTSTLSVSSFFKQEGDRLSDEDLFKFLADYKRSSSLQRRVKSIPGLLRLEISTAPEIINCCLTPEMLPVKPFPENRTRPHKEILEFPTREVYVPHTVYRNLLYVYPQRLNFVNKLASARNITIKIQFMCGEDASNAMPVIFGKSSGPEFLQEVYTAVTYHNKSPDFYEEVKIKLPAKLTVNHHLLFTFYHISCQQKQGASVETLLGYSWLPILLNERLQTGSYCLPVALEKLPPNYSMHSAEKVPLQNPPIKWAEGHKGVFNIEVQAVSSVHTQDNHLEKFFTLCHSLESQVTFPIRVLDQKISEMALEHELKLSIICLNSSRLEPLVLFLHLVLDKLFQLSVQPMVIAGQTANFSQFAFESVVAIANSLHNSKDLSKDQHGRNCLLASYVHYVFRLPEVQRDVPKSGAPTALLDPRSYHTYGRTSAAAVSSKLLQARVMSSSNPDLAGTHSAADEEVKNIMSSKIADRNCSRMSYYCSGSSDAPSSPAAPRPASKKHFHEELALQMVVSTGMVRETVFKYAWFFFELLVKSMAQHVHNMDKRDSFRRTRFSDRFMDDITTIVNVVTSEIAALLVKPQKENEQAEKMNISLAFFLYDLLSLMDRGFVFNLIRHYCSQLSAKLSNLPTLISMRLEFLRILCSHEHYLNLNLFFMNADTAPTSPCPSISSQNSSSCSSFQDQKIASMFDLTSEYRQQHFLTGLLFTELAAALDAEGEGISKVQRKAVSAIHSLLSSHDLDPRCVKPEVKVKIAALYLPLVGIILDALPQLCDFTVADTRRYRTSGSDEEQEGAGAINQNVALAIAGNNFNLKTSGIVLSSLPYKQYNMLNADTTRNLMICFLWIMKNADQSLIRKWIADLPSTQLNRILDLLFICVLCFEYKGKQSSDKVSTQVLQKSRDVKARLEEALLRGEGARGEMMRRRAPGNDRFPGLNENLRWKKEQTHWRQANEKLDKTKAELDQEALISGNLATEAHLIILDMQENIIQASSALDCKDSLLGGVLRVLVNSLNCDQSTTYLTHCFATLRALIAKFGDLLFEEEVEQCFDLCHQVLHHCSSSMDVTRSQACATLYLLMRFSFGATSNFARVKMQVTMSLASLVGRAPDFNEEHLRRSLRTILAYSEEDTAMQMTPFPTQVEELLCNLNSILYDTVKMREFQEDPEMLMDLMYRIAKSYQASPDLRLTWLQNMAEKHTKKKCYTEAAMCLVHAAALVAEYLSMLEDHSYLPVGSVSFQNISSNVLEESVVSEDTLSPDEDGVCAGQYFTESGLVGLLEQAAELFSTGGLYETVNEVYKLVIPILEAHREFRKLTLTHSKLQRAFDSIVNKDHKRMFGTYFRVGFFGSKFGDLDEQEFVYKEPAITKLPEISHRLEAFYGQCFGAEFVEVIKDSTPVDKTKLDPNKAYIQITFVEPYFDEYEMKDRVTYFEKNFNLRRFMYTTPFTLEGRPRGELHEQYRRNTVLTTMHAFPYIKTRISVIQKEEFVLTPIEVAIEDMKKKTLQLAVAINQEPPDAKMLQMVLQGSVGATVNQGPLEVAQVFLAEIPADPKLYRHHNKLRLCFKEFIMRCGEAVEKNKRLITADQREYQQELKKNYNKLKENLRPMIERKIPELYKPIFRVESQKRDSFHRSSFRKCETQLSQGS
uniprot
proteins
disease_involvement
DISEASE: Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections (HIES2) [MIM:243700]: A rare disorder characterized by immunodeficiency, recurrent infections, eczema, increased serum IgE, eosinophilia and lack of connective tissue and skeletal involvement. {ECO:0000269|PubMed:19776401}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Intellectual developmental disorder, autosomal dominant 2 (MRD2) [MIM:614113]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:18060736}. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration disrupting DOCK8 has been found in a patient with intellectual disability and ectodermal dysplasia. A balanced translocation, t(X;9) (q13.1;p24). A genomic deletion of approximately 230 kb in subtelomeric 9p has been detected in a patient with intellectual disability.
uniprot
proteins
function
FUNCTION: Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP (PubMed:22461490, PubMed:28028151). 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). {ECO:0000250|UniProtKB:Q8C147, ECO:0000269|PubMed:22461490, ECO:0000269|PubMed:25762780, ECO:0000269|PubMed:28028151}.
uniprot
proteins
mass_dalton
238529
uniprot
proteins
mutagenesis
MUTAGEN 2077; /note="S->A: Abolishes phosphorylation. No migration in response to chemokine CXCL12/SDF-1-alpha stimulation; when associated with A-2082 and A-2087."; /evidence="ECO:0000269|PubMed:28028151"; MUTAGEN 2077; /note="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."; /evidence="ECO:0000269|PubMed:28028151"; MUTAGEN 2082; /note="S->A: Abolishes phosphorylation. No migration in response to chemokine CXCL12/SDF-1-alpha stimulation; when associated with A-2077 and A-2087."; /evidence="ECO:0000269|PubMed:28028151"; MUTAGEN 2082; /note="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."; /evidence="ECO:0000269|PubMed:28028151"; MUTAGEN 2087; /note="S->A: Abolishes phosphorylation. No migration in response to chemokine CXCL12/SDF-1-alpha stimulation; when associated with A-2077 and A-2082."; /evidence="ECO:0000269|PubMed:28028151"; MUTAGEN 2087; /note="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."; /evidence="ECO:0000269|PubMed:28028151
uniprot
proteins
post_translational_modification
PTM: In response to chemokine CXCL12/SDF-1-alpha stimulation, phosphorylated by PRKCA/PKC-alpha which promotes DOCK8 dissociation from LRCH1. {ECO:0000269|PubMed:28028151}.
uniprot
proteins
protein_family
DOCK family
uniprot
proteins
pubmed
10729223
uniprot
proteins
pubmed
12432077
uniprot
proteins
pubmed
12693554
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18060736
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19776401
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22461490
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24169519
uniprot
proteins
pubmed
25762780
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28028151
uniprot
proteins
sequence_length
2099
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:28028151}. Cell membrane {ECO:0000269|PubMed:28028151}; Peripheral membrane protein {ECO:0000305|PubMed:28028151}; Cytoplasmic side {ECO:0000305}. Cell projection, lamellipodium membrane {ECO:0000269|PubMed:28028151}; Peripheral membrane protein {ECO:0000305|PubMed:28028151}; Cytoplasmic side {ECO:0000305}. 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. {ECO:0000269|PubMed:28028151}.
uniprot
proteins