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UniProtKB - Q8TEU7 (RPGF6_HUMAN)

Entry version 178 (07 Apr 2021)
Sequence version 2 (30 Nov 2010)
Previous versions | rss
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Protein

Rap guanine nucleotide exchange factor 6

Gene

RAPGEF6

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) for Rap1A, Rap2A and M-Ras GTPases. Does not interact with cAMP.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi280 – 399cNMPAdd BLAST120

<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		Q8TEU7

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q8TEU7

<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%5Fand%5Ftaxonomy%5Fsection">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:
Rap guanine nucleotide exchange factor 6
Alternative name(s):
PDZ domain-containing guanine nucleotide exchange factor 2
Short name:
PDZ-GEF2
RA-GEF-2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:RAPGEF6
Synonyms:PDZGEF2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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)Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 5

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:20655, RAPGEF6

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610499, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8TEU7

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000158987.20

<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

Cell membrane, 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

Organism-specific databases

DisGeNET

More...DisGeNETi		51735

Open Targets

More...OpenTargetsi		ENSG00000158987

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134885793

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8TEU7, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		RAPGEF6

Domain mapping of disease mutations (DMDM)

More...DMDMi		313104174

<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_00000688761 – 1601Rap guanine nucleotide exchange factor 6Add BLAST1601

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 residuei1N-acetylmethionineCombined sources1
Modified residuei3PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8TEU7

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8TEU7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8TEU7

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8TEU7

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

More...PaxDbi		Q8TEU7

PeptideAtlas

More...PeptideAtlasi		Q8TEU7

PRoteomics IDEntifications database

More...PRIDEi		Q8TEU7

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		19757
74497 [Q8TEU7-1]
74498 [Q8TEU7-2]
74499 [Q8TEU7-3]
74500 [Q8TEU7-4]
74501 [Q8TEU7-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8TEU7

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

More...PhosphoSitePlusi		Q8TEU7

<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

Isoform 3 has highest expression levels in the brain, heart, liver, lung and placenta and is barely detectable in skeletal muscle, kidney and pancreas.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000158987, Expressed in corpus callosum and 218 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8TEU7, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8TEU7, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000158987, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with the second PDZ domain of human PTP1e.

Curated1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		119705, 34 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q8TEU7

Protein interaction database and analysis system

More...IntActi		Q8TEU7, 19 interactors

Molecular INTeraction database

More...MINTi		Q8TEU7

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000296859

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8TEU7, 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

Secondary structure

11601
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q8TEU7

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q8TEU7

<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%5Fand%5Fdomains%5Fsection">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>Domaini412 – 526N-terminal Ras-GEFPROSITE-ProRule annotationAdd BLAST115
Domaini530 – 615PDZPROSITE-ProRule annotationCuratedAdd BLAST86
Domaini749 – 835Ras-associatingPROSITE-ProRule annotationAdd BLAST87
Domaini860 – 1088Ras-GEFPROSITE-ProRule annotationAdd BLAST229

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 amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1229 – 1440Ser-richAdd BLAST212

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3542, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158124

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8TEU7

Identification of Orthologs from Complete Genome Data

More...OMAi		EVCSEHN

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8TEU7

TreeFam database of animal gene trees

More...TreeFami		TF313184

Family and domain databases

Conserved Domains Database

More...CDDi		cd00038, CAP_ED, 1 hit
cd00155, RasGEF, 1 hit
cd06224, REM, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.30.42.10, 1 hit
2.60.120.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR018490, cNMP-bd-like
IPR000595, cNMP-bd_dom
IPR001478, PDZ
IPR036034, PDZ_sf
IPR000159, RA_dom
IPR008937, Ras-like_GEF
IPR000651, Ras-like_Gua-exchang_fac_N
IPR023578, Ras_GEF_dom_sf
IPR001895, RASGEF_cat_dom
IPR014710, RmlC-like_jellyroll

The PANTHER Classification System

More...PANTHERi		PTHR23113, PTHR23113, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00027, cNMP_binding, 1 hit
PF00595, PDZ, 1 hit
PF00788, RA, 1 hit
PF00617, RasGEF, 1 hit
PF00618, RasGEF_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00100, cNMP, 1 hit
SM00228, PDZ, 1 hit
SM00314, RA, 1 hit
SM00147, RasGEF, 1 hit
SM00229, RasGEFN, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48366, SSF48366, 1 hit
SSF50156, SSF50156, 1 hit
SSF51206, SSF51206, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50042, CNMP_BINDING_3, 1 hit
PS50106, PDZ, 1 hit
PS50200, RA, 1 hit
PS50009, RASGEF_CAT, 1 hit
PS50212, RASGEF_NTER, 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%5Flength">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>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 6 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8TEU7-1) [UniParc]FASTAAdd to basket
Also known as: PDZ-GEF2A1 Publication

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MNSPVDPGAR QALRKKPPER TPEDLNTIYS YLHGMEILSN LREHQLRLMS 
        60         70         80         90        100
ARARYERYSG NQVLFCSETI ARCWYILLSG SVLVKGSMVL PPCSFGKQFG 
       110        120        130        140        150
GKRGCDCLVL EPSEMIVVEN AKDNEDSILQ REIPARQSRR RFRKINYKGE 
       160        170        180        190        200
RQTITDDVEV NSYLSLPADL TKMHLTENPH PQVTHVSSSQ SGCSIASDSG 
       210        220        230        240        250
SSSLSDIYQA TESEVGDVDL TRLPEGPVDS EDDEEEDEEI DRTDPLQGRD 
       260        270        280        290        300
LVRECLEKEP ADKTDDDIEQ LLEFMHQLPA FANMTMSVRR ELCSVMIFEV 
       310        320        330        340        350
VEQAGAIILE DGQELDSWYV ILNGTVEISH PDGKVENLFM GNSFGITPTL 
       360        370        380        390        400
DKQYMHGIVR TKVDDCQFVC IAQQDYWRIL NHVEKNTHKV EEEGEIVMVH 
       410        420        430        440        450
EHRELDRSGT RKGHIVIKAT PERLIMHLIE EHSIVDPTYI EDFLLTYRTF 
       460        470        480        490        500
LESPLDVGIK LLEWFKIDSL RDKVTRIVLL WVNNHFNDFE GDPAMTRFLE 
       510        520        530        540        550
EFEKNLEDTK MNGHLRLLNI ACAAKAKWRQ VVLQKASRES PLQFSLNGGS 
       560        570        580        590        600
EKGFGIFVEG VEPGSKAADS GLKRGDQIME VNGQNFENIT FMKAVEILRN 
       610        620        630        640        650
NTHLALTVKT NIFVFKELLF RTEQEKSGVP HIPKIAEKKS NRHSIQHVPG 
       660        670        680        690        700
DIEQTSQEKG SKKVKANTVS GGRNKIRKIL DKTRFSILPP KLFSDGGLSQ 
       710        720        730        740        750
SQDDSIVGTR HCRHSLAIMP IPGTLSSSSP DLLQPTTSML DFSNPSDIPD 
       760        770        780        790        800
QVIRVFKVDQ QSCYIIISKD TTAKEVVFHA VHEFGLTGAS DTYSLCEVSV 
       810        820        830        840        850
TPEGVIKQRR LPDQFSKLAD RIQLNGRYYL KNNMETETLC SDEDAQELVK 
       860        870        880        890        900
ESQLSMLQLS TIEVATQLSM RDFDLFRNIE PTEYIDDLFK LNSKTGNTHL 
       910        920        930        940        950
KRFEDIVNQE TFWVASEILT EANQLKRMKI IKHFIKIALH CRECKNFNSM 
       960        970        980        990       1000
FAIISGLNLA SVARLRGTWE KLPSKYEKHL QDLQDIFDPS RNMAKYRNIL 
      1010       1020       1030       1040       1050
SSQSMQPPII PLFPVVKKDM TFLHEGNDSK VDGLVNFEKL RMISKEIRQV 
      1060       1070       1080       1090       1100
VRMTSANMDP AMMFRQRSLS QGSTNSNMLD VQGGAHKKRA RRSSLLNAKK 
      1110       1120       1130       1140       1150
LYEDAQMARK VKQYLSSLDV ETDEEKFQMM SLQWEPAYGT LTKNLSEKRS 
      1160       1170       1180       1190       1200
AKSSEMSPVP MRSAGQTTKA HLHQPHRVSQ VLQVPAVNLH PIRKKGQTKD 
      1210       1220       1230       1240       1250
PALNTSLPQK VLGTTEEISG KKHTEDTISV ASSLHSSPPA SPQGSPHKGY 
      1260       1270       1280       1290       1300
TLIPSAKSDN LSDSSHSEIS SRSSIVSNCS VDSMSAALQD ERCSSQALAV 
      1310       1320       1330       1340       1350
PESTGALEKT EHASGIGDHS QHGPGWTLLK PSLIKCLAVS SSVSNEEISQ 
      1360       1370       1380       1390       1400
EHIIIEAADS GRGSWTSCSS SSHDNFQSLP NPKSWDFLNS YRHTHLDDPI 
      1410       1420       1430       1440       1450
AEVEPTDSEP YSCSKSCSRT CGQCKGSLER KSWTSSSSLS DTYEPNYGTV 
      1460       1470       1480       1490       1500
KQRVLESTPA ESSEGLDPKD ATDPVYKTVT SSTEKGLIVY CVTSPKKDDR 
      1510       1520       1530       1540       1550
YREPPPTPPG YLGISLADLK EGPHTHLKPP DYSVAVQRSK MMHNSLSRLP 
      1560       1570       1580       1590       1600
PASLSSNLVA CVPSKIVTQP QRHNLQPFHP KLGDVTDADS EADENEQVSA 

V
Length:1,601
Mass (Da):179,423
Last modified:November 30, 2010 - v2
<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:iCF4C5407EB61EEE2
GO
Isoform 2 (identifier: Q8TEU7-2) [UniParc]FASTAAdd to basket
Also known as: PDZ-GEF2B1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1249-1391: GYTLIPSAKS...PKSWDFLNSY → VGSIISDHSS...RFKSKRRKTL
     1392-1601: Missing.

Show »
Length:1,391
Mass (Da):157,540
Checksum:i479E95ACE48D3938
GO
Isoform 3 (identifier: Q8TEU7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     747-747: D → AVGFYY
     1067-1067: R → RKKRWRSLG
     1489-1593: Missing.

Show »
Length:1,509
Mass (Da):169,500
Checksum:i726CDBA718C65649
GO
Isoform 4 (identifier: Q8TEU7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1067-1067: R → RKKRWRSLG

Show »
Length:1,609
Mass (Da):180,435
Checksum:i2674B9180DEB7FCC
GO
Isoform 5 (identifier: Q8TEU7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1067-1067: R → RKKRWRSLG
     1489-1593: Missing.

Show »
Length:1,504
Mass (Da):168,914
Checksum:i52E76A090032E29F
GO
Isoform 6 (identifier: Q8TEU7-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     828-1601: Missing.

Show »
Length:827
Mass (Da):93,442
Checksum:i2EF5931EDE350449
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RE77D6RE77_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEF6
1,114Annotation 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>
B7Z7Y1B7Z7Y1_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEF6
1,204Annotation 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>
D6RB02D6RB02_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEF6
155Annotation 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>
D6RD23D6RD23_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEF6
149Annotation 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>
D6RIH0D6RIH0_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEF6
155Annotation 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>
A0A5F9ZHG7A0A5F9ZHG7_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEF6
1,267Annotation 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>

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 conflicti566K → E in AAL79915 (PubMed:12581858).Curated1
Sequence conflicti566K → E in AAL79916 (PubMed:12581858).Curated1
Sequence conflicti619L → P in AAL79915 (PubMed:12581858).Curated1
Sequence conflicti619L → P in AAL79916 (PubMed:12581858).Curated1
Sequence conflicti637E → K in AAL79915 (PubMed:12581858).Curated1
Sequence conflicti637E → K in AAL79916 (PubMed:12581858).Curated1
Sequence conflicti669V → A in AAL79915 (PubMed:12581858).Curated1
Sequence conflicti669V → A in AAL79916 (PubMed:12581858).Curated1
Sequence conflicti749P → A in AAI42965 (PubMed:15489334).Curated1

Natural variant

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_057168570S → A. Corresponds to variant dbSNP:rs3756293Ensembl.1
Natural variantiVAR_057169594A → P. Corresponds to variant dbSNP:rs34112735Ensembl.1
Natural variantiVAR_0571701353I → V. Corresponds to variant dbSNP:rs7717835Ensembl.1
Natural variantiVAR_0597931452Q → R3 PublicationsCorresponds to variant dbSNP:rs1291602Ensembl.1
Natural variantiVAR_0571711559V → E. Corresponds to variant dbSNP:rs1064539EnsemblClinVar.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_050607747D → AVGFYY in isoform 3. 1 Publication1
Alternative sequenceiVSP_045027828 – 1601Missing in isoform 6. 1 PublicationAdd BLAST774
Alternative sequenceiVSP_0506081067R → RKKRWRSLG in isoform 3, isoform 4 and isoform 5. 2 Publications1
Alternative sequenceiVSP_0506101249 – 1391GYTLI…FLNSY → VGSIISDHSSKISGQSCPGI GGAYLQKKILQITRSTAKRT DSTEKATEENRDRTSCENTT RKRMTSPFRRLRERMLSRER LVNSQKEDTDHNQATESCEK VKDVGSNIKDEKGSAIFNSN SQGNSNTLNCFYTRFKSKRR KTL in isoform 2. 1 PublicationAdd BLAST143
Alternative sequenceiVSP_0506111392 – 1601Missing in isoform 2. 1 PublicationAdd BLAST210
Alternative sequenceiVSP_0506091489 – 1593Missing in isoform 3 and isoform 5. 2 PublicationsAdd BLAST105

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
AF478468 mRNA Translation: AAL79915.1
AF478469 mRNA Translation: AAL79916.1
AF478567 mRNA Translation: AAM21637.1
AF394782 mRNA Translation: AAK83368.1
AC004227 Genomic DNA No translation available.
AC004622 Genomic DNA No translation available.
AC008497 Genomic DNA No translation available.
AC008695 Genomic DNA No translation available.
AC026754 Genomic DNA No translation available.
BC133703 mRNA Translation: AAI33704.1
BC142964 mRNA Translation: AAI42965.1
BC144627 mRNA Translation: AAI44628.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34225.1 [Q8TEU7-1]
CCDS54897.1 [Q8TEU7-6]
CCDS54898.1 [Q8TEU7-2]
CCDS54899.1 [Q8TEU7-5]
CCDS54900.1 [Q8TEU7-4]
CCDS54901.1 [Q8TEU7-3]

NCBI Reference Sequences

More...RefSeqi		NP_001157858.1, NM_001164386.1 [Q8TEU7-4]
NP_001157859.1, NM_001164387.1 [Q8TEU7-3]
NP_001157860.1, NM_001164388.1 [Q8TEU7-5]
NP_001157861.1, NM_001164389.1 [Q8TEU7-2]
NP_001157862.1, NM_001164390.1 [Q8TEU7-6]
NP_057424.3, NM_016340.5 [Q8TEU7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000296859; ENSP00000296859; ENSG00000158987 [Q8TEU7-4]
ENST00000308008; ENSP00000311419; ENSG00000158987 [Q8TEU7-2]
ENST00000507093; ENSP00000426081; ENSG00000158987 [Q8TEU7-3]
ENST00000509018; ENSP00000421684; ENSG00000158987 [Q8TEU7-1]
ENST00000510071; ENSP00000425389; ENSG00000158987 [Q8TEU7-6]
ENST00000627212; ENSP00000487439; ENSG00000158987 [Q8TEU7-5]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		51735

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:51735

UCSC genome browser

More...UCSCi		uc003kvn.2, human [Q8TEU7-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF478468 mRNA Translation: AAL79915.1
AF478469 mRNA Translation: AAL79916.1
AF478567 mRNA Translation: AAM21637.1
AF394782 mRNA Translation: AAK83368.1
AC004227 Genomic DNA No translation available.
AC004622 Genomic DNA No translation available.
AC008497 Genomic DNA No translation available.
AC008695 Genomic DNA No translation available.
AC026754 Genomic DNA No translation available.
BC133703 mRNA Translation: AAI33704.1
BC142964 mRNA Translation: AAI42965.1
BC144627 mRNA Translation: AAI44628.1
CCDSiCCDS34225.1 [Q8TEU7-1]
CCDS54897.1 [Q8TEU7-6]
CCDS54898.1 [Q8TEU7-2]
CCDS54899.1 [Q8TEU7-5]
CCDS54900.1 [Q8TEU7-4]
CCDS54901.1 [Q8TEU7-3]
RefSeqiNP_001157858.1, NM_001164386.1 [Q8TEU7-4]
NP_001157859.1, NM_001164387.1 [Q8TEU7-3]
NP_001157860.1, NM_001164388.1 [Q8TEU7-5]
NP_001157861.1, NM_001164389.1 [Q8TEU7-2]
NP_001157862.1, NM_001164390.1 [Q8TEU7-6]
NP_057424.3, NM_016340.5 [Q8TEU7-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2D93NMR-A265-385[»]
3LNYX-ray1.30B1596-1601[»]
SMRiQ8TEU7
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi119705, 34 interactors
ELMiQ8TEU7
IntActiQ8TEU7, 19 interactors
MINTiQ8TEU7
STRINGi9606.ENSP00000296859

PTM databases

iPTMnetiQ8TEU7
PhosphoSitePlusiQ8TEU7

Genetic variation databases

BioMutaiRAPGEF6
DMDMi313104174

Proteomic databases

EPDiQ8TEU7
jPOSTiQ8TEU7
MassIVEiQ8TEU7
MaxQBiQ8TEU7
PaxDbiQ8TEU7
PeptideAtlasiQ8TEU7
PRIDEiQ8TEU7
ProteomicsDBi19757
74497 [Q8TEU7-1]
74498 [Q8TEU7-2]
74499 [Q8TEU7-3]
74500 [Q8TEU7-4]
74501 [Q8TEU7-5]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		25867, 121 antibodies

Genome annotation databases

EnsembliENST00000296859; ENSP00000296859; ENSG00000158987 [Q8TEU7-4]
ENST00000308008; ENSP00000311419; ENSG00000158987 [Q8TEU7-2]
ENST00000507093; ENSP00000426081; ENSG00000158987 [Q8TEU7-3]
ENST00000509018; ENSP00000421684; ENSG00000158987 [Q8TEU7-1]
ENST00000510071; ENSP00000425389; ENSG00000158987 [Q8TEU7-6]
ENST00000627212; ENSP00000487439; ENSG00000158987 [Q8TEU7-5]
GeneIDi51735
KEGGihsa:51735
UCSCiuc003kvn.2, human [Q8TEU7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		51735
DisGeNETi51735

GeneCards: human genes, protein and diseases

More...GeneCardsi		RAPGEF6
HGNCiHGNC:20655, RAPGEF6
HPAiENSG00000158987, Low tissue specificity
MIMi610499, gene
neXtProtiNX_Q8TEU7
OpenTargetsiENSG00000158987
PharmGKBiPA134885793
VEuPathDBiHostDB:ENSG00000158987.20

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3542, Eukaryota
GeneTreeiENSGT00940000158124
InParanoidiQ8TEU7
OMAiEVCSEHN
PhylomeDBiQ8TEU7
TreeFamiTF313184

Enzyme and pathway databases

PathwayCommonsiQ8TEU7
SIGNORiQ8TEU7

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		51735, 13 hits in 996 CRISPR screens

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

More...ChiTaRSi		RAPGEF6, human
EvolutionaryTraceiQ8TEU7

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		RAPGEF6

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

More...GenomeRNAii		51735
PharosiQ8TEU7, Tbio

Protein Ontology

More...PROi		PR:Q8TEU7
RNActiQ8TEU7, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000158987, Expressed in corpus callosum and 218 other tissues
ExpressionAtlasiQ8TEU7, baseline and differential
GenevisibleiQ8TEU7, HS

Family and domain databases

CDDicd00038, CAP_ED, 1 hit
cd00155, RasGEF, 1 hit
cd06224, REM, 1 hit
Gene3Di2.30.42.10, 1 hit
2.60.120.10, 2 hits
InterProiView protein in InterPro
IPR018490, cNMP-bd-like
IPR000595, cNMP-bd_dom
IPR001478, PDZ
IPR036034, PDZ_sf
IPR000159, RA_dom
IPR008937, Ras-like_GEF
IPR000651, Ras-like_Gua-exchang_fac_N
IPR023578, Ras_GEF_dom_sf
IPR001895, RASGEF_cat_dom
IPR014710, RmlC-like_jellyroll
PANTHERiPTHR23113, PTHR23113, 1 hit
PfamiView protein in Pfam
PF00027, cNMP_binding, 1 hit
PF00595, PDZ, 1 hit
PF00788, RA, 1 hit
PF00617, RasGEF, 1 hit
PF00618, RasGEF_N, 1 hit
SMARTiView protein in SMART
SM00100, cNMP, 1 hit
SM00228, PDZ, 1 hit
SM00314, RA, 1 hit
SM00147, RasGEF, 1 hit
SM00229, RasGEFN, 1 hit
SUPFAMiSSF48366, SSF48366, 1 hit
SSF50156, SSF50156, 1 hit
SSF51206, SSF51206, 2 hits
PROSITEiView protein in PROSITE
PS50042, CNMP_BINDING_3, 1 hit
PS50106, PDZ, 1 hit
PS50200, RA, 1 hit
PS50009, RASGEF_CAT, 1 hit
PS50212, RASGEF_NTER, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

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 nameiRPGF6_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: Q8TEU7
Secondary accession number(s): A3KN82
, A5PLL6, B7ZML2, E9PDV7, Q8NI21, Q8TEU6, Q96PC1
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 29, 2003
Last sequence update: November 30, 2010
Last modified: April 7, 2021
This is version 178 of the entry and version 2 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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