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UniProtKB - Q8NF50 (DOCK8_HUMAN)

Protein

Dedicator of cytokinesis protein 8

Gene

DOCK8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • guanyl-nucleotide exchange factor activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-983231 Factors involved in megakaryocyte development and platelet production

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Dedicator of cytokinesis protein 8
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DOCK8
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000107099.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:19191 DOCK8

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		611432 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8NF50

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

Cell membrane, Cell projection, Cytoplasm, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive (AR-HIES)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disorder characterized by immunodeficiency, recurrent infections, eczema, increased serum IgE, eosinophilia and lack of connective tissue and skeletal involvement.
See also OMIM:243700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063753473K → R in AR-HIES. 1 PublicationCorresponds to variant dbSNP:rs112321280EnsemblClinVar.1
Mental retardation, autosomal dominant 2 (MRD2)1 Publication
The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration disrupting DOCK8 has been found in a patient with mental retardation 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 mental retardation.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
See also OMIM:614113

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi2077S → A: Abolishes phosphorylation. No migration in response to chemokine CXCL12/SDF-1-alpha stimulation; when associated with A-2082 and A-2087. 1 Publication1
Mutagenesisi2077S → 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 Publication1
Mutagenesisi2082S → A: Abolishes phosphorylation. No migration in response to chemokine CXCL12/SDF-1-alpha stimulation; when associated with A-2077 and A-2087. 1 Publication1
Mutagenesisi2082S → 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 Publication1
Mutagenesisi2087S → A: Abolishes phosphorylation. No migration in response to chemokine CXCL12/SDF-1-alpha stimulation; when associated with A-2077 and A-2082. 1 Publication1
Mutagenesisi2087S → 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 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		81704

MalaCards human disease database

More...MalaCardsi		DOCK8
MIMi243700 phenotype
614113 phenotype

Open Targets

More...OpenTargetsi		ENSG00000107099

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		178469 Autosomal dominant non-syndromic intellectual disability
217390 Combined immunodeficiency due to DOCK8 deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134918866

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DOCK8

Domain mapping of disease mutations (DMDM)

More...DMDMi		158937439

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001899971 – 2099Dedicator of cytokinesis protein 8Add BLAST2099

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei20PhosphoserineCombined sources1
Modified residuei139PhosphoserineCombined sources1
Modified residuei451PhosphoserineCombined sources1
Modified residuei904PhosphoserineBy similarity1
Modified residuei936PhosphoserineCombined sources1
Modified residuei1145PhosphoserineCombined sources1
Modified residuei1243PhosphoserineBy similarity1
Modified residuei2087PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

In response to chemokine CXCL12/SDF-1-alpha stimulation, phosphorylated by PRKCA/PKC-alpha which promotes DOCK8 dissociation from LRCH1.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8NF50

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8NF50

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8NF50

PeptideAtlas

More...PeptideAtlasi		Q8NF50

PRoteomics IDEntifications database

More...PRIDEi		Q8NF50

ProteomicsDB human proteome resource

More...ProteomicsDBi		73260
73261 [Q8NF50-2]
73262 [Q8NF50-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8NF50

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8NF50

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in peripheral blood mononuclear cells (PBMCs).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000107099 Expressed in 187 organ(s), highest expression level in leukocyte

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8NF50 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8NF50 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA003218

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts (via DHR-2 domain) with GTPase CDC42; the interaction activates CDC42 by exchanging GDP for GTP (PubMed:22461490, PubMed:28028151). The unphosphorylated form interacts (via DHR-2 domain) with LRCH1 (via LRR repeats); the interaction prevents the association between DOCK8 and CDC42 (PubMed:28028151). Interacts with CCDC88B (PubMed:25762780).3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		123577, 42 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q8NF50

Protein interaction database and analysis system

More...IntActi		Q8NF50, 47 interactors

Molecular INTeraction database

More...MINTi		Q8NF50

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000408464

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q8NF50

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8NF50

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini560 – 729DHR-1PROSITE-ProRule annotationAdd BLAST170
Domaini1632 – 2066DHR-2PROSITE-ProRule annotationAdd BLAST435

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The DHR-2 domain is necessary and sufficient for the GEF activity.2 Publications

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the DOCK family.PROSITE-ProRule annotation

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1997 Eukaryota
ENOG410ZJ2S LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155876

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000230910

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG051390

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NF50

KEGG Orthology (KO)

More...KOi		K21852

Identification of Orthologs from Complete Genome Data

More...OMAi		QYVHNMD

Database of Orthologous Groups

More...OrthoDBi		EOG091G0067

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8NF50

TreeFam database of animal gene trees

More...TreeFami		TF313629

Family and domain databases

Conserved Domains Database

More...CDDi		cd08696 C2_Dock-C, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.150, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR016024 ARM-type_fold
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

The PANTHER Classification System

More...PANTHERi		PTHR23317 PTHR23317, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF06920 DHR-2, 1 hit
PF14429 DOCK-C2, 1 hit
PF11878 DUF3398, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48371 SSF48371, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51650 DHR_1, 1 hit
PS51651 DHR_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NF50-1) [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
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
Length:2,099
Mass (Da):238,529
Last modified:August 21, 2007 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iAF651C26E2D8E73E
GO
Isoform 2 (identifier: Q8NF50-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     927-958: Missing.

Note: No experimental confirmation available.
Show »
Length:2,067
Mass (Da):235,185
Checksum:i63FB02FCA204E1C8
GO
Isoform 3 (identifier: Q8NF50-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-68: Missing.

Show »
Length:2,031
Mass (Da):230,820
Checksum:i4BDDA98A79349281
GO
Isoform 4 (identifier: Q8NF50-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-68: Missing.
     927-958: Missing.

Note: No experimental confirmation available.
Show »
Length:1,999
Mass (Da):227,477
Checksum:i9D0A9F61AD502256
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A2A369A2A369_HUMAN
Dedicator of cytokinesis protein 8
DOCK8
1,566Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PDJ4E9PDJ4_HUMAN
Dedicator of cytokinesis protein 8
DOCK8
502Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A2A370A2A370_HUMAN
Dedicator of cytokinesis protein 8
DOCK8
439Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J7A3C9J7A3_HUMAN
Dedicator of cytokinesis protein 8
DOCK8
107Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J613C9J613_HUMAN
Dedicator of cytokinesis protein 8
DOCK8
66Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WC95F8WC95_HUMAN
Dedicator of cytokinesis protein 8
DOCK8
66Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PHZ4E9PHZ4_HUMAN
Dedicator of cytokinesis protein 8
DOCK8
50Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAG42221 differs from that shown. Reason: Frameshift at positions 2067 and 2083.Curated
The sequence BAB84907 differs from that shown. Reason: Frameshift at position 1956.Curated
The sequence CAI46160 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti22A → V in BAE45254 (Ref. 1) Curated1
Sequence conflicti470S → I in AAI30519 (PubMed:15489334).Curated1
Sequence conflicti470S → I in AAI43930 (PubMed:15489334).Curated1
Sequence conflicti600V → VV in CAI46160 (PubMed:17974005).Curated1
Sequence conflicti1751V → F in BAB84907 (Ref. 6) Curated1
Sequence conflicti1755V → F in BAB84907 (Ref. 6) Curated1
Sequence conflicti1927Y → F in AAI30519 (PubMed:15489334).Curated1
Sequence conflicti1927Y → F in AAI43930 (PubMed:15489334).Curated1
Sequence conflicti2029E → K in AAG42221 (PubMed:10729223).Curated1
Sequence conflicti2046L → F in AAG42221 (PubMed:10729223).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03388897P → T1 PublicationCorresponds to variant dbSNP:rs529208EnsemblClinVar.1
Natural variantiVAR_059972169E → K. Corresponds to variant dbSNP:rs11789099EnsemblClinVar.1
Natural variantiVAR_033889237E → K. Corresponds to variant dbSNP:rs11789099EnsemblClinVar.1
Natural variantiVAR_033890413N → S1 PublicationCorresponds to variant dbSNP:rs10970979EnsemblClinVar.1
Natural variantiVAR_063753473K → R in AR-HIES. 1 PublicationCorresponds to variant dbSNP:rs112321280EnsemblClinVar.1
Natural variantiVAR_033891597A → V. Corresponds to variant dbSNP:rs17673268EnsemblClinVar.1
Natural variantiVAR_071964652I → V1 Publication1
Natural variantiVAR_0338921008R → W. Corresponds to variant dbSNP:rs16937932EnsemblClinVar.1
Natural variantiVAR_0338931970A → P1 PublicationCorresponds to variant dbSNP:rs34908836EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0398381 – 68Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST68
Alternative sequenceiVSP_027373927 – 958Missing in isoform 2 and isoform 4. 1 PublicationAdd BLAST32

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS55283.1 [Q8NF50-3]
CCDS55284.1 [Q8NF50-4]
CCDS6440.2 [Q8NF50-1]

NCBI Reference Sequences

More...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]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.132599

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000432829; ENSP00000394888; ENSG00000107099 [Q8NF50-1]
ENST00000453981; ENSP00000408464; ENSG00000107099 [Q8NF50-3]
ENST00000469391; ENSP00000419438; ENSG00000107099 [Q8NF50-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		81704

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:81704

UCSC genome browser

More...UCSCi		uc003zgf.2 human [Q8NF50-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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.
CCDSiCCDS55283.1 [Q8NF50-3]
CCDS55284.1 [Q8NF50-4]
CCDS6440.2 [Q8NF50-1]
RefSeqiNP_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]
UniGeneiHs.132599

3D structure databases

ProteinModelPortaliQ8NF50
SMRiQ8NF50
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123577, 42 interactors
CORUMiQ8NF50
IntActiQ8NF50, 47 interactors
MINTiQ8NF50
STRINGi9606.ENSP00000408464

PTM databases

iPTMnetiQ8NF50
PhosphoSitePlusiQ8NF50

Polymorphism and mutation databases

BioMutaiDOCK8
DMDMi158937439

Proteomic databases

EPDiQ8NF50
MaxQBiQ8NF50
PaxDbiQ8NF50
PeptideAtlasiQ8NF50
PRIDEiQ8NF50
ProteomicsDBi73260
73261 [Q8NF50-2]
73262 [Q8NF50-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000432829; ENSP00000394888; ENSG00000107099 [Q8NF50-1]
ENST00000453981; ENSP00000408464; ENSG00000107099 [Q8NF50-3]
ENST00000469391; ENSP00000419438; ENSG00000107099 [Q8NF50-4]
GeneIDi81704
KEGGihsa:81704
UCSCiuc003zgf.2 human [Q8NF50-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		81704
DisGeNETi81704
EuPathDBiHostDB:ENSG00000107099.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		DOCK8
HGNCiHGNC:19191 DOCK8
HPAiHPA003218
MalaCardsiDOCK8
MIMi243700 phenotype
611432 gene
614113 phenotype
neXtProtiNX_Q8NF50
OpenTargetsiENSG00000107099
Orphaneti178469 Autosomal dominant non-syndromic intellectual disability
217390 Combined immunodeficiency due to DOCK8 deficiency
PharmGKBiPA134918866

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1997 Eukaryota
ENOG410ZJ2S LUCA
GeneTreeiENSGT00940000155876
HOGENOMiHOG000230910
HOVERGENiHBG051390
InParanoidiQ8NF50
KOiK21852
OMAiQYVHNMD
OrthoDBiEOG091G0067
PhylomeDBiQ8NF50
TreeFamiTF313629

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		DOCK8 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Dock8

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		81704

Protein Ontology

More...PROi		PR:Q8NF50

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000107099 Expressed in 187 organ(s), highest expression level in leukocyte
ExpressionAtlasiQ8NF50 baseline and differential
GenevisibleiQ8NF50 HS

Family and domain databases

CDDicd08696 C2_Dock-C, 1 hit
Gene3Di2.60.40.150, 1 hit
InterProiView protein in InterPro
IPR016024 ARM-type_fold
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
SUPFAMiSSF48371 SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS51650 DHR_1, 1 hit
PS51651 DHR_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDOCK8_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8NF50
Secondary accession number(s): A2A350
, A2BDF2, A4FU78, B7ZLP0, E9PH09, Q3MV16, Q5JPJ1, Q8TEP1, Q8WUY2, Q9BYJ5, Q9H1Q2, Q9H1Q3, Q9H308, Q9H7P2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 3, 2003
Last sequence update: August 21, 2007
Last modified: December 5, 2018
This is version 153 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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