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UniProtKB - Q8IZD9 (DOCK3_HUMAN)

Entry version 153 (29 Sep 2021)
Sequence version 1 (01 Mar 2003)
Previous versions | rss
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Protein

Dedicator of cytokinesis protein 3

Gene

DOCK3

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

Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP. Its interaction with presenilin proteins as well as its ability to stimulate Tau/MAPT phosphorylation suggest that it may be involved in Alzheimer disease. Ectopic expression in nerve cells decreases the secretion of amyloid-beta APBA1 protein and lowers the rate of cell-substratum adhesion, suggesting that it may affect the function of some small GTPase involved in the regulation of actin cytoskeleton or cell adhesion receptors (By similarity).

By similarity

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8IZD9

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-9013149, RAC1 GTPase cycle
R-HSA-9013404, RAC2 GTPase cycle
R-HSA-9013408, RHOG GTPase cycle
R-HSA-9032759, NTRK2 activates RAC1
R-HSA-983231, Factors involved in megakaryocyte development and platelet production

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q8IZD9

<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 3
Alternative name(s):
Modifier of cell adhesion
Presenilin-binding protein
Short name:
PBP
<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:DOCK3
Synonyms:KIAA0299, MOCA
<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 3

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:2989, DOCK3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603123, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8IZD9

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000088538

<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

Keywords - Cellular componenti

Cytoplasm

<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

A chromosomal aberration involving DOCK3 has been found in a family with early-onset behavioral/developmental disorder with features of attention deficit-hyperactivity disorder and intellectual disability. Inversion inv(3)(p14:q21). The inversion disrupts DOCK3 and SLC9A9.1 Publication
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia (NEDIDHA)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by global developmental delay, hypotonia, ataxic gait, hyporeflexia, poor or absent speech, and variable and mild dysmorphic features.
Related information in OMIM
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_081831128 – 2030Missing in NEDIDHA. 1 PublicationAdd BLAST1903
Natural variantiVAR_081832392R → Q in NEDIDHA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199600118Ensembl.1
Natural variantiVAR_0818331296K → R in NEDIDHA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201184598Ensembl.1
Natural variantiVAR_0818341674M → L in NEDIDHA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs142515812EnsemblClinVar.1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		1795

MalaCards human disease database

More...MalaCardsi		DOCK3
MIMi618292, phenotype

Open Targets

More...OpenTargetsi		ENSG00000088538

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

More...Orphaneti		528084, Non-specific syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27455

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8IZD9, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DOCK3

Domain mapping of disease mutations (DMDM)

More...DMDMi		32469734

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001899881 – 2030Dedicator of cytokinesis protein 3Add BLAST2030

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 residuei1658PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8IZD9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8IZD9

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

More...PaxDbi		Q8IZD9

PeptideAtlas

More...PeptideAtlasi		Q8IZD9

PRoteomics IDEntifications database

More...PRIDEi		Q8IZD9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		71332

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q8IZD9, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8IZD9

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

More...PhosphoSitePlusi		Q8IZD9

<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

In normal brains, it is localized in the neuropil, and occasionally in the pyramidal cells, while in Alzheimer disease brains, it is associated with neurofibrillary tangles.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000088538, Expressed in frontal pole and 157 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8IZD9, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000088538, Tissue enhanced (brain)

<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 with presenilin proteins PSEN1 and PSEN2.

Interacts with CRK (By similarity).

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108130, 44 interactors

Protein interaction database and analysis system

More...IntActi		Q8IZD9, 36 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000266037

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8IZD9, protein

<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

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

More...SMRi		Q8IZD9

Database of comparative protein structure models

More...ModBasei		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>Domaini6 – 67SH3PROSITE-ProRule annotationAdd BLAST62
Domaini421 – 599C2 DOCK-typePROSITE-ProRule annotationAdd BLAST179
Domaini1228 – 1635DOCKERPROSITE-ProRule annotationAdd BLAST408

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1641 – 1662DisorderedSequence analysisAdd BLAST22
Regioni1734 – 1771DisorderedSequence analysisAdd BLAST38
Regioni1849 – 1927DisorderedSequence analysisAdd BLAST79
Regioni1951 – 2030DisorderedSequence analysisAdd BLAST80

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi1970 – 1976SH3-bindingSequence analysis7

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1734 – 1765Polar residuesSequence analysisAdd BLAST32
Compositional biasi1871 – 1920Polar residuesSequence analysisAdd BLAST50
Compositional biasi1964 – 1980Pro residuesSequence analysisAdd BLAST17
Compositional biasi1981 – 2005Basic and acidic residuesSequence analysisAdd BLAST25

<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 DOCKER domain may mediate some GEF activity.By similarity

<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

Keywords - Domaini

SH3 domain, SH3-binding

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1998, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155514

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000595_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8IZD9

Identification of Orthologs from Complete Genome Data

More...OMAi		XQYETVV

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8IZD9

TreeFam database of animal gene trees

More...TreeFami		TF300423

Family and domain databases

Conserved Domains Database

More...CDDi		cd08695, C2_Dock-B, 1 hit
cd12048, SH3_DOCK3_B, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.1270.350, 1 hit
1.20.58.740, 1 hit
1.25.40.410, 1 hit
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
IPR037811, C2_Dock-B
IPR027007, C2_DOCK-type_domain
IPR027357, C2_DOCKER_dom
IPR035892, C2_domain_sf
IPR026791, DOCK
IPR026800, DOCK3
IPR035767, DOCK3_SH3
IPR010703, DOCK_C
IPR043161, DOCK_C_lobe_A
IPR043162, DOCK_C_lobe_C
IPR032376, DOCK_N
IPR042455, DOCK_N_sub1
IPR036028, SH3-like_dom_sf
IPR001452, SH3_domain

The PANTHER Classification System

More...PANTHERi		PTHR45653, PTHR45653, 1 hit
PTHR45653:SF4, PTHR45653:SF4, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF06920, DHR-2, 1 hit
PF14429, DOCK-C2, 1 hit
PF16172, DOCK_N, 1 hit
PF07653, SH3_2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00326, SH3, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48371, SSF48371, 1 hit
SSF50044, SSF50044, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51650, C2_DOCK, 1 hit
PS51651, DOCKER, 1 hit
PS50002, SH3, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<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.

Q8IZD9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MWTPTEEEKY GVVICSFRGS VPQGLVLEIG ETVQILEKCE GWYRGVSTKK 
        60         70         80         90        100
PNVKGIFPAN YIHLKKAIVS NRGQYETVVP LEDSIVTEVT ATLQEWASLW 
       110        120        130        140        150
KQLYVKHKVD LFYKLRHVMN ELIDLRRQLL SGHLTQDQVR EVKRHITVRL 
       160        170        180        190        200
DWGNEHLGLD LVPRKDFEVV DSDQISVSDL YKMHLSSRQS VQQSTSQVDT 
       210        220        230        240        250
MRPRHGETCR MPVPHHFFLS LKSFTYNTIG EDTDVFFSLY DMREGKQISE 
       260        270        280        290        300
RFLVRLNKNG GPRNPEKIER MCALFTDLSS KDMKRDLYIV AHVIRIGRML 
       310        320        330        340        350
LNDSKKGPPH LHYRRPYGCA VLSILDVLQS LTEVKEEKDF VLKVYTCNNE 
       360        370        380        390        400
SEWSQIHENI IRKSSAKYSA PSASHGLIIS LQLLRGDMEQ IRRENPMIFN 
       410        420        430        440        450
RGLAITRKLG FPDVIMPGDI RNDLYLTLEK GDFERGGKSV QKNIEVTMYV 
       460        470        480        490        500
LYADGEILKD CISLGSGEPN RSSYHSFVLY HSNSPRWGEI IKLPIPIDRF 
       510        520        530        540        550
RGSHLRFEFR HCSTKDKGEK KLFGFAFSTL MRDDGTTLSD DIHELYVYKC 
       560        570        580        590        600
DENSTFNNHA LYLGLPCCKE DYNGCPNIPS SLIFQRSTKE SFFISTQLSS 
       610        620        630        640        650
TKLTQNVDLL ALLKWKAFPD RIMDVLGRLR HVSGEEIVKF LQDILDTLFV 
       660        670        680        690        700
ILDDNTEKYG LLVFQSLVFI INLLRDIKYF HFRPVMDTYI QKHFAGALAY 
       710        720        730        740        750
KELIRCLKWY MDCSAELIRQ DHIQEAMRAL EYLFKFIVQS RILYSRATCG 
       760        770        780        790        800
MEEEQFRSSI QELFQSIRFV LSLDSRNSET LLFTQAALLN SFPTIFDELL 
       810        820        830        840        850
QMFTVQEVAE FVRGTLGSMP STVHIGQSMD VVKLQSIART VDSRLFSFSE 
       860        870        880        890        900
SRRILLPVVL HHIHLHLRQQ KELLICSGIL GSIFSIVKTS SLEADVMEEV 
       910        920        930        940        950
EMMVESLLDV LLQTLLTIMS KSHAQEAVRG QRCPQCTAEI TGEYVSCLLS 
       960        970        980        990       1000
LLRQMCDTHF QHLLDNFQSK DELKEFLLKI FCVFRNLMKM SVFPRDWMVM 
      1010       1020       1030       1040       1050
RLLTSNIIVT TVQYLSSALH KNFTETDFDF KVWNSYFSLA VLFINQPSLQ 
      1060       1070       1080       1090       1100
LEIITSAKRK KILDKYGDMR VMMAYELFSM WQNLGEHKIH FIPGMIGPFL 
      1110       1120       1130       1140       1150
GVTLVPQPEV RNIMIPIFHD MMDWEQRKNG NFKQVEAELI DKLDSMVSEG 
      1160       1170       1180       1190       1200
KGDESYRELF SLLTQLFGPY PSLLEKVEQE TWRETGISFV TSVTRLMERL 
      1210       1220       1230       1240       1250
LDYRDCMKGE ETENKKIGCT VNLMNFYKSE INKEEMYIRY IHKLCDMHLQ 
      1260       1270       1280       1290       1300
AENYTEAAFT LLLYCELLQW EDRPLREFLH YPSQTEWQRK EGLCRKIIHY 
      1310       1320       1330       1340       1350
FNKGKSWEFG IPLCRELACQ YESLYDYQSL SWIRKMEASY YDNIMEQQRL 
      1360       1370       1380       1390       1400
EPEFFRVGFY GRKFPFFLRN KEYVCRGHDY ERLEAFQQRM LSEFPQAVAM 
      1410       1420       1430       1440       1450
QHPNHPDDAI LQCDAQYLQI YAVTPIPDYV DVLQMDRVPD RVKSFYRVNN 
      1460       1470       1480       1490       1500
VRKFRYDRPF HKGPKDKENE FKSLWIERTT LTLTHSLPGI SRWFEVERRE 
      1510       1520       1530       1540       1550
LVEVSPLENA IQVVENKNQE LRSLISQYQH KQVHGNINLL SMCLNGVIDA 
      1560       1570       1580       1590       1600
AVNGGIARYQ EAFFDKDYIN KHPGDAEKIT QLKELMQEQV HVLGVGLAVH 
      1610       1620       1630       1640       1650
EKFVHPEMRP LHKKLIDQFQ MMRASLYHEF PGLDKLSPAC SGTSTPRGNV 
      1660       1670       1680       1690       1700
LASHSPMSPE SIKMTHRHSP MNLMGTGRHS SSSLSSHASS EAGNMVMLGD 
      1710       1720       1730       1740       1750
GSMGDAPEDL YHHMQLAYPN PRYQGSVTNV SVLSSSQASP SSSSLSSTHS 
      1760       1770       1780       1790       1800
APSQMITSAP SSARGSPSLP DKYRHAREMM LLLPTYRDRP SSAMYPAAIL 
      1810       1820       1830       1840       1850
ENGQPPNFQR ALFQQVVGAC KPCSDPNLSV AEKGHYSLHF DAFHHPLGDT 
      1860       1870       1880       1890       1900
PPALPARTLR KSPLHPIPAS PTSPQSGLDG SNSTLSGSAS SGVSSLSESN 
      1910       1920       1930       1940       1950
FGHSSEAPPR TDTMDSMPSQ AWNADEDLEP PYLPVHYSLS ESAVLDSIKA 
      1960       1970       1980       1990       2000
QPCRSHSAPG CVIPQDPMDP PALPPKPYHP RLPALEHDEG VLLREETERP 
      2010       2020       2030
RGLHRKAPLP PGSAKEEQAR MAWEHGRGEQ
Length:2,030
Mass (Da):233,103
Last modified:March 1, 2003 - v1
<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:iFF87E874B926C1C7
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081831128 – 2030Missing in NEDIDHA. 1 PublicationAdd BLAST1903
Natural variantiVAR_081832392R → Q in NEDIDHA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199600118Ensembl.1
Natural variantiVAR_0818331296K → R in NEDIDHA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201184598Ensembl.1
Natural variantiVAR_0818341674M → L in NEDIDHA; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs142515812EnsemblClinVar.1

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
AY145303 mRNA Translation: AAN12301.1
AY254099 mRNA Translation: AAP80572.1
AB002297 mRNA Translation: BAA20759.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS46835.1

NCBI Reference Sequences

More...RefSeqi		NP_004938.1, NM_004947.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000266037; ENSP00000266037; ENSG00000088538

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1795

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1795

UCSC genome browser

More...UCSCi		uc011bds.2, human

Keywords - Coding sequence diversityi

Chromosomal rearrangement

<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
AY145303 mRNA Translation: AAN12301.1
AY254099 mRNA Translation: AAP80572.1
AB002297 mRNA Translation: BAA20759.1
CCDSiCCDS46835.1
RefSeqiNP_004938.1, NM_004947.4

3D structure databases

SMRiQ8IZD9
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi108130, 44 interactors
IntActiQ8IZD9, 36 interactors
STRINGi9606.ENSP00000266037

PTM databases

GlyGeniQ8IZD9, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ8IZD9
PhosphoSitePlusiQ8IZD9

Genetic variation databases

BioMutaiDOCK3
DMDMi32469734

Proteomic databases

MassIVEiQ8IZD9
MaxQBiQ8IZD9
PaxDbiQ8IZD9
PeptideAtlasiQ8IZD9
PRIDEiQ8IZD9
ProteomicsDBi71332

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		46085, 85 antibodies

The DNASU plasmid repository

More...DNASUi		1795

Genome annotation databases

EnsembliENST00000266037; ENSP00000266037; ENSG00000088538
GeneIDi1795
KEGGihsa:1795
UCSCiuc011bds.2, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1795
DisGeNETi1795

GeneCards: human genes, protein and diseases

More...GeneCardsi		DOCK3
HGNCiHGNC:2989, DOCK3
HPAiENSG00000088538, Tissue enhanced (brain)
MalaCardsiDOCK3
MIMi603123, gene
618292, phenotype
neXtProtiNX_Q8IZD9
OpenTargetsiENSG00000088538
Orphaneti528084, Non-specific syndromic intellectual disability
PharmGKBiPA27455
VEuPathDBiHostDB:ENSG00000088538

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1998, Eukaryota
GeneTreeiENSGT00940000155514
HOGENOMiCLU_000595_2_0_1
InParanoidiQ8IZD9
OMAiXQYETVV
PhylomeDBiQ8IZD9
TreeFamiTF300423

Enzyme and pathway databases

PathwayCommonsiQ8IZD9
ReactomeiR-HSA-9013149, RAC1 GTPase cycle
R-HSA-9013404, RAC2 GTPase cycle
R-HSA-9013408, RHOG GTPase cycle
R-HSA-9032759, NTRK2 activates RAC1
R-HSA-983231, Factors involved in megakaryocyte development and platelet production
SIGNORiQ8IZD9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1795, 3 hits in 1008 CRISPR screens

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

More...ChiTaRSi		DOCK3, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Dock3

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

More...GenomeRNAii		1795
PharosiQ8IZD9, Tbio

Protein Ontology

More...PROi		PR:Q8IZD9
RNActiQ8IZD9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000088538, Expressed in frontal pole and 157 other tissues
GenevisibleiQ8IZD9, HS

Family and domain databases

CDDicd08695, C2_Dock-B, 1 hit
cd12048, SH3_DOCK3_B, 1 hit
Gene3Di1.20.1270.350, 1 hit
1.20.58.740, 1 hit
1.25.40.410, 1 hit
2.60.40.150, 1 hit
InterProiView protein in InterPro
IPR016024, ARM-type_fold
IPR037811, C2_Dock-B
IPR027007, C2_DOCK-type_domain
IPR027357, C2_DOCKER_dom
IPR035892, C2_domain_sf
IPR026791, DOCK
IPR026800, DOCK3
IPR035767, DOCK3_SH3
IPR010703, DOCK_C
IPR043161, DOCK_C_lobe_A
IPR043162, DOCK_C_lobe_C
IPR032376, DOCK_N
IPR042455, DOCK_N_sub1
IPR036028, SH3-like_dom_sf
IPR001452, SH3_domain
PANTHERiPTHR45653, PTHR45653, 1 hit
PTHR45653:SF4, PTHR45653:SF4, 1 hit
PfamiView protein in Pfam
PF06920, DHR-2, 1 hit
PF14429, DOCK-C2, 1 hit
PF16172, DOCK_N, 1 hit
PF07653, SH3_2, 1 hit
SMARTiView protein in SMART
SM00326, SH3, 1 hit
SUPFAMiSSF48371, SSF48371, 1 hit
SSF50044, SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS51650, C2_DOCK, 1 hit
PS51651, DOCKER, 1 hit
PS50002, SH3, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiDOCK3_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: Q8IZD9
Secondary accession number(s): O15017
<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: March 1, 2003
Last modified: September 29, 2021
This is version 153 of the entry and version 1 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

Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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