| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP (By similarity). ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8NF50-1; Sequence=Displayed; Name=2; IsoId=Q8NF50-2; Sequence=VSP_027373; Note=No experimental confirmation available; Name=3; IsoId=Q8NF50-3; Sequence=VSP_039838; DOMAIN: The DHR-2 domain may mediate some GEF activity (By similarity). DISEASE: Defects in DOCK8 are the cause of hyperimmunoglobulin E recurrent infection syndrome autosomal recessive (AR-HIES) [MIM:243700]. It is a rare disorder of immunity characterized by immunodeficiency, recurrent infections, eczema, increased serum IgE, eosinophilia and lack of connective tissue and skeletal involvement. DISEASE: Defects in DOCK8 are the cause of mental retardation autosomal dominant type 2 (MRD2) [MIM:614113]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Note=A chromosomal aberration disrupting DOCK8 has been found in a patient with mental retardation and ectodermal dysplasia. DOCK8 is disrupted in patients with mental retardation. A balanced translocation, t(X;9) (q13.1;p24). SIMILARITY: Belongs to the DOCK family. SIMILARITY: Contains 1 DHR-1 (CZH-1) domain. SIMILARITY: Contains 1 DHR-2 (CZH-2) domain. SEQUENCE CAUTION: Sequence=AAG42221.1; Type=Frameshift; Positions=2067, 2083; Sequence=BAB84907.1; Type=Frameshift; Positions=1956; Sequence=CAI46160.1; Type=Erroneous initiation; GENE SYNONYMS:DOCK8. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 2099 AA; 238529 MW; AF651C26E2D8E73E CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:19191,
urn:biopax:RelationshipXref:NCBI GENE_81704,
urn:biopax:RelationshipXref:REFSEQ_NP_001177387,
urn:biopax:RelationshipXref:REFSEQ_NP_001180465,
urn:biopax:RelationshipXref:REFSEQ_NP_982272,
urn:biopax:UnificationXref:UNIPROT_A2A350,
urn:biopax:UnificationXref:UNIPROT_A2BDF2,
urn:biopax:UnificationXref:UNIPROT_A4FU78,
urn:biopax:UnificationXref:UNIPROT_Q3MV16,
urn:biopax:UnificationXref:UNIPROT_Q5JPJ1,
urn:biopax:UnificationXref:UNIPROT_Q8NF50,
urn:biopax:UnificationXref:UNIPROT_Q8TEP1,
urn:biopax:UnificationXref:UNIPROT_Q8WUY2,
urn:biopax:UnificationXref:UNIPROT_Q9BYJ5,
urn:biopax:UnificationXref:UNIPROT_Q9H1Q2,
urn:biopax:UnificationXref:UNIPROT_Q9H1Q3,
urn:biopax:UnificationXref:UNIPROT_Q9H308,
urn:biopax:UnificationXref:UNIPROT_Q9H7P2
|
| biopax3:displayName |
DOCK8_HUMAN
|
| biopax3:name |
DOCK8
|
| biopax3:entityFeature | |
| biopax3:organism | |
| biopax3:sequence |
MATLPSAERRAFALKINRYSSAEIRKQFTLPPNLGQYHRQSISTSGFPSLQLPQFYDPVEPVDFEGLLMTHLNSLDVQLAQELGDFTDDDLDVVFTPKECRTLQPSLPEEGVELDPHVRDCVQTYIREWLIVNRKNQGSPEICGFKKTGSRKDFHKTLPKQTFESETLECSEPAAQAGPRHLNVLCDVSGKGPVTACDFDLRSLQPDKRLENLLQQVSAEDFEKQNEEARRTNRQAELFALYPSVDEEDAVEIRPVPECPKEHLGNRILVKLLTLKFEIEIEPLFASIALYDVKERKKISENFHCDLNSDQFKGFLRAHTPSVAASSQARSAVFSVTYPSSDIYLVVKIEKVLQQGEIGDCAEPYTVIKESDGGKSKEKIEKLKLQAESFCQRLGKYRMPFAWAPISLSSFFNVSTLEREVTDVDSVVGRSSVGERRTLAQSRRLSERALSLEENGVGSNFKTSTLSVSSFFKQEGDRLSDEDLFKFLADYKRSSSLQRRVKSIPGLLRLEISTAPEIINCCLTPEMLPVKPFPENRTRPHKEILEFPTREVYVPHTVYRNLLYVYPQRLNFVNKLASARNITIKIQFMCGEDASNAMPVIFGKSSGPEFLQEVYTAVTYHNKSPDFYEEVKIKLPAKLTVNHHLLFTFYHISCQQKQGASVETLLGYSWLPILLNERLQTGSYCLPVALEKLPPNYSMHSAEKVPLQNPPIKWAEGHKGVFNIEVQAVSSVHTQDNHLEKFFTLCHSLESQVTFPIRVLDQKISEMALEHELKLSIICLNSSRLEPLVLFLHLVLDKLFQLSVQPMVIAGQTANFSQFAFESVVAIANSLHNSKDLSKDQHGRNCLLASYVHYVFRLPEVQRDVPKSGAPTALLDPRSYHTYGRTSAAAVSSKLLQARVMSSSNPDLAGTHSAADEEVKNIMSSKIADRNCSRMSYYCSGSSDAPSSPAAPRPASKKHFHEELALQMVVSTGMVRETVFKYAWFFFELLVKSMAQHVHNMDKRDSFRRTRFSDRFMDDITTIVNVVTSEIAALLVKPQKENEQAEKMNISLAFFLYDLLSLMDRGFVFNLIRHYCSQLSAKLSNLPTLISMRLEFLRILCSHEHYLNLNLFFMNADTAPTSPCPSISSQNSSSCSSFQDQKIASMFDLTSEYRQQHFLTGLLFTELAAALDAEGEGISKVQRKAVSAIHSLLSSHDLDPRCVKPEVKVKIAALYLPLVGIILDALPQLCDFTVADTRRYRTSGSDEEQEGAGAINQNVALAIAGNNFNLKTSGIVLSSLPYKQYNMLNADTTRNLMICFLWIMKNADQSLIRKWIADLPSTQLNRILDLLFICVLCFEYKGKQSSDKVSTQVLQKSRDVKARLEEALLRGEGARGEMMRRRAPGNDRFPGLNENLRWKKEQTHWRQANEKLDKTKAELDQEALISGNLATEAHLIILDMQENIIQASSALDCKDSLLGGVLRVLVNSLNCDQSTTYLTHCFATLRALIAKFGDLLFEEEVEQCFDLCHQVLHHCSSSMDVTRSQACATLYLLMRFSFGATSNFARVKMQVTMSLASLVGRAPDFNEEHLRRSLRTILAYSEEDTAMQMTPFPTQVEELLCNLNSILYDTVKMREFQEDPEMLMDLMYRIAKSYQASPDLRLTWLQNMAEKHTKKKCYTEAAMCLVHAAALVAEYLSMLEDHSYLPVGSVSFQNISSNVLEESVVSEDTLSPDEDGVCAGQYFTESGLVGLLEQAAELFSTGGLYETVNEVYKLVIPILEAHREFRKLTLTHSKLQRAFDSIVNKDHKRMFGTYFRVGFFGSKFGDLDEQEFVYKEPAITKLPEISHRLEAFYGQCFGAEFVEVIKDSTPVDKTKLDPNKAYIQITFVEPYFDEYEMKDRVTYFEKNFNLRRFMYTTPFTLEGRPRGELHEQYRRNTVLTTMHAFPYIKTRISVIQKEEFVLTPIEVAIEDMKKKTLQLAVAINQEPPDAKMLQMVLQGSVGATVNQGPLEVAQVFLAEIPADPKLYRHHNKLRLCFKEFIMRCGEAVEKNKRLITADQREYQQELKKNYNKLKENLRPMIERKIPELYKPIFRVESQKRDSFHRSSFRKCETQLSQGS
|
| biopax3:standardName |
Dedicator of cytokinesis protein 8
|