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Entry version 181 (10 Apr 2019)
Sequence version 3 (03 Apr 2007)
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Protein

Rap guanine nucleotide exchange factor 1

Gene

RAPGEF1

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-releasing protein that binds to SH3 domain of CRK and GRB2/ASH. Transduces signals from CRK to activate RAS. Plays a role in the establishment of basal endothelial barrier function. Plays a role in nerve growth factor (NGF)-induced sustained activation of Rap1 and neurite outgrowth.3 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

GO - Biological processi

<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
Biological processNeurogenesis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-170968 Frs2-mediated activation
R-HSA-186763 Downstream signal transduction
R-HSA-8875555 MET activates RAP1 and RAC1
R-HSA-9027284 Erythropoietin activates RAS
R-HSA-912631 Regulation of signaling by CBL

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q13905

<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:
Rap guanine nucleotide exchange factor 1
Alternative name(s):
CRK SH3-binding GNRP
Guanine nucleotide-releasing factor 2
Protein C3G
<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:RAPGEF1
Synonyms:GRF2
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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

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EuPathDBi
HostDB:ENSG00000107263.18

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4568 RAPGEF1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600303 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q13905

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Endosome

<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

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>Mutagenesisi504Y → F: Abolishes phosphorylation by HCK. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
2889

Open Targets

More...
OpenTargetsi
ENSG00000107263

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28964

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RAPGEF1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
143811452

<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_00000688641 – 1077Rap guanine nucleotide exchange factor 1Add BLAST1077

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 residuei281PhosphoserineCombined sources1
Modified residuei293PhosphoserineCombined sources1
Modified residuei314PhosphoserineCombined sources1
Modified residuei335PhosphoserineCombined sources1
Modified residuei360PhosphoserineCombined sources1
Modified residuei504Phosphotyrosine; by HCK1 Publication1
Isoform Short (identifier: Q13905-2)
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki57Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

<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

Phosphorylation at Tyr-504 enhances activity as Rap guanine nucleotide exchange factor.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q13905

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q13905

MaxQB - The MaxQuant DataBase

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MaxQBi
Q13905

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

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PaxDbi
Q13905

PeptideAtlas

More...
PeptideAtlasi
Q13905

PRoteomics IDEntifications database

More...
PRIDEi
Q13905

ProteomicsDB human proteome resource

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ProteomicsDBi
59720
59721 [Q13905-2]
59722 [Q13905-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q13905

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

More...
PhosphoSitePlusi
Q13905

<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

Ubiquitously expressed in adult and fetus. Expression is high in adult skeletal muscle and placenta and in fetal brain and heart. Low levels of expression in adult and fetal liver.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000107263 Expressed in 196 organ(s), highest expression level in gastrocnemius

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q13905 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q13905 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA006426

<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 CRK via its SH3-binding sites.2 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
109146, 20 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q13905

Database of interacting proteins

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DIPi
DIP-29392N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q13905

Protein interaction database and analysis system

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IntActi
Q13905, 17 interactors

Molecular INTeraction database

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MINTi
Q13905

STRING: functional protein association networks

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STRINGi
9606.ENSP00000361263

<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

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5L23X-ray1.77B279-293[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q13905

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

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SMRi
Q13905

Database of comparative protein structure models

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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>Domaini688 – 810N-terminal Ras-GEFPROSITE-ProRule annotationAdd BLAST123
Domaini840 – 1064Ras-GEFPROSITE-ProRule annotationAdd BLAST225

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>Motifi281 – 292SH3-bindingAdd BLAST12
Motifi451 – 462SH3-bindingAdd BLAST12
Motifi538 – 549SH3-bindingAdd BLAST12
Motifi606 – 617SH3-bindingAdd BLAST12

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 biasi963 – 966Poly-Ser4

Keywords - Domaini

SH3-binding

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IQ6P Eukaryota
ENOG410XP7D LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156235

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000048190

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG058477

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q13905

KEGG Orthology (KO)

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KOi
K06277

Identification of Orthologs from Complete Genome Data

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OMAi
PVHQSQS

Database of Orthologous Groups

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OrthoDBi
231215at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q13905

TreeFam database of animal gene trees

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TreeFami
TF317296

Family and domain databases

Conserved Domains Database

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

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.840.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR008937 Ras-like_GEF
IPR000651 Ras-like_Gua-exchang_fac_N
IPR019804 Ras_G-nucl-exch_fac_CS
IPR023578 Ras_GEF_dom_sf
IPR001895 RASGEF_cat_dom
IPR036964 RASGEF_cat_dom_sf

The PANTHER Classification System

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PANTHERi
PTHR23113 PTHR23113, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00617 RasGEF, 1 hit
PF00618 RasGEF_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00147 RasGEF, 1 hit
SM00229 RasGEFN, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48366 SSF48366, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00720 RASGEF, 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_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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform Long (identifier: Q13905-1) [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
MDTDSQRSHL SSFTMKLMDK FHSPKIKRTP SKKGKPAEVS VKIPEKPVNK
60 70 80 90 100
EATDRFLPEG YPLPLDLEQQ AVEFMSTSAV ASRSQRQKNL SWLEEKEKEV
110 120 130 140 150
VSALRYFKTI VDKMAIDKKV LEMLPGSASK VLEAILPLVQ NDPRIQHSSA
160 170 180 190 200
LSSCYSRVYQ SLANLIRWSD QVMLEGVNSE DKEMVTTVKG VIKAVLDGVK
210 220 230 240 250
ELVRLTIEKQ GRPSPTSPVK PSSPASKPDG PAELPLTDRE VEILNKTTGM
260 270 280 290 300
SQSTELLPDA TDEEVAPPKP PLPGIRVVDN SPPPALPPKK RQSAPSPTRV
310 320 330 340 350
AVVAPMSRAT SGSSLPVGIN RQDFDVDCYA QRRLSGGSHS YGGESPRLSP
360 370 380 390 400
CSSIGKLSKS DEQLSSLDRD SGQCSRNTSC ETLDHYDPDY EFLQQDLSNA
410 420 430 440 450
DQIPQQTAWN LSPLPESLGE SGSPFLGPPF QLPLGGHPQP DGPLAPGQQT
460 470 480 490 500
DTPPALPEKK RRSAASQTAD GSGCRVSYER HPSQYDNISG EDLQSTAPIP
510 520 530 540 550
SVPYAPFAAI LPFQHGGSSA PVEFVGDFTA PESTGDPEKP PPLPEKKNKH
560 570 580 590 600
MLAYMQLLED YSEPQPSMFY QTPQNEHIYQ QKNKLLMEVY GFSDSFSGVD
610 620 630 640 650
SVQELAPPPA LPPKQRQLEP PAGKDGHPRD PSAVSGVPGK DSRDGSERAP
660 670 680 690 700
KSPDALESAQ SEEEVDELSL IDHNEIMSRL TLKQEGDDGP DVRGGSGDIL
710 720 730 740 750
LVHATETDRK DLVLYCEAFL TTYRTFISPE ELIKKLQYRY EKFSPFADTF
760 770 780 790 800
KKRVSKNTFF VLVRVVDELC LVELTEEILK LLMELVFRLV CNGELSLARV
810 820 830 840 850
LRKNILDKVD QKKLLRCATS SQPLAARGVA ARPGTLHDFH SHEIAEQLTL
860 870 880 890 900
LDAELFYKIE IPEVLLWAKE QNEEKSPNLT QFTEHFNNMS YWVRSIIMLQ
910 920 930 940 950
EKAQDRERLL LKFIKIMKHL RKLNNFNSYL AILSALDSAP IRRLEWQKQT
960 970 980 990 1000
SEGLAEYCTL IDSSSSFRAY RAALSEVEPP CIPYLGLILQ DLTFVHLGNP
1010 1020 1030 1040 1050
DYIDGKVNFS KRWQQFNILD SMRCFQQAHY DMRRNDDIIN FFNDFSDHLA
1060 1070
EEALWELSLK IKPRNITRRK TDREEKT
Length:1,077
Mass (Da):120,548
Last modified:April 3, 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:iE700631A0EE76CA1
GO
Isoform Short (identifier: Q13905-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     50-88: Missing.

Show »
Length:1,038
Mass (Da):116,141
Checksum:i34F0A1BD9C8B0732
GO
Isoform 3 (identifier: Q13905-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-3: MDT → MGNAIEKQKPLKRSHLYPWKQ

Note: No experimental confirmation available.
Show »
Length:1,095
Mass (Da):122,735
Checksum:i04C19860FF7F11E8
GO
Isoform 4 (identifier: Q13905-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-3: MDT → MSGGLGLRRSPEMSGKIEKA

Note: No experimental confirmation available.
Show »
Length:1,094
Mass (Da):122,287
Checksum:i00A95564C0B9974A
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y6R4H0Y6R4_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEF1
319Annotation 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>
Q5JUE9Q5JUE9_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEF1
158Annotation 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>
H0Y4V2H0Y4V2_HUMAN
Rap guanine nucleotide exchange fac...
RAPGEF1
228Annotation 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 conflicti137P → R (PubMed:7806500).Curated1
Sequence conflicti183E → G (PubMed:7806500).Curated1
Sequence conflicti217S → C (PubMed:7806500).Curated1
Sequence conflicti254T → S (PubMed:7806500).Curated1
Sequence conflicti287P → T in BAA04770 (PubMed:7512734).Curated1
Sequence conflicti355G → D in BAA04770 (PubMed:7512734).Curated1
Sequence conflicti636G → V (PubMed:7806500).Curated1
Sequence conflicti698D → N (PubMed:7806500).Curated1
Sequence conflicti846 – 847EQ → DE (PubMed:7806500).Curated2

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_0693751012R → Q Found in a patient with mental retardation, frontal epilepsy and mild facial dysmorphism. 1 Publication1

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_0420521 – 3MDT → MGNAIEKQKPLKRSHLYPWK Q in isoform 3. 1 Publication3
Alternative sequenceiVSP_0574161 – 3MDT → MSGGLGLRRSPEMSGKIEKA in isoform 4. 1 Publication3
Alternative sequenceiVSP_00182250 – 88Missing in isoform Short. CuratedAdd BLAST39

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
D21239 mRNA Translation: BAA04770.1
CR749354 mRNA Translation: CAH18207.1
AL160271 Genomic DNA No translation available.
AL160276 Genomic DNA No translation available.
BC041710 mRNA Translation: AAH41710.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS48047.1 [Q13905-1]
CCDS48048.1 [Q13905-3]
CCDS78450.1 [Q13905-4]

NCBI Reference Sequences

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RefSeqi
NP_001291204.1, NM_001304275.1 [Q13905-4]
NP_005303.2, NM_005312.3 [Q13905-1]
NP_941372.1, NM_198679.1 [Q13905-3]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.127897

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000372189; ENSP00000361263; ENSG00000107263 [Q13905-1]
ENST00000372190; ENSP00000361264; ENSG00000107263 [Q13905-3]
ENST00000372195; ENSP00000361269; ENSG00000107263 [Q13905-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2889

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2889

UCSC genome browser

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UCSCi
uc064wrk.1 human [Q13905-1]
uc064wrl.1 human

Keywords - Coding sequence diversityi

Alternative splicing, 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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D21239 mRNA Translation: BAA04770.1
CR749354 mRNA Translation: CAH18207.1
AL160271 Genomic DNA No translation available.
AL160276 Genomic DNA No translation available.
BC041710 mRNA Translation: AAH41710.1
CCDSiCCDS48047.1 [Q13905-1]
CCDS48048.1 [Q13905-3]
CCDS78450.1 [Q13905-4]
RefSeqiNP_001291204.1, NM_001304275.1 [Q13905-4]
NP_005303.2, NM_005312.3 [Q13905-1]
NP_941372.1, NM_198679.1 [Q13905-3]
UniGeneiHs.127897

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5L23X-ray1.77B279-293[»]
ProteinModelPortaliQ13905
SMRiQ13905
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109146, 20 interactors
CORUMiQ13905
DIPiDIP-29392N
ELMiQ13905
IntActiQ13905, 17 interactors
MINTiQ13905
STRINGi9606.ENSP00000361263

PTM databases

iPTMnetiQ13905
PhosphoSitePlusiQ13905

Polymorphism and mutation databases

BioMutaiRAPGEF1
DMDMi143811452

Proteomic databases

EPDiQ13905
jPOSTiQ13905
MaxQBiQ13905
PaxDbiQ13905
PeptideAtlasiQ13905
PRIDEiQ13905
ProteomicsDBi59720
59721 [Q13905-2]
59722 [Q13905-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
2889
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372189; ENSP00000361263; ENSG00000107263 [Q13905-1]
ENST00000372190; ENSP00000361264; ENSG00000107263 [Q13905-3]
ENST00000372195; ENSP00000361269; ENSG00000107263 [Q13905-4]
GeneIDi2889
KEGGihsa:2889
UCSCiuc064wrk.1 human [Q13905-1]
uc064wrl.1 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
2889
DisGeNETi2889
EuPathDBiHostDB:ENSG00000107263.18

GeneCards: human genes, protein and diseases

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GeneCardsi
RAPGEF1
HGNCiHGNC:4568 RAPGEF1
HPAiHPA006426
MIMi600303 gene
neXtProtiNX_Q13905
OpenTargetsiENSG00000107263
PharmGKBiPA28964

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IQ6P Eukaryota
ENOG410XP7D LUCA
GeneTreeiENSGT00940000156235
HOGENOMiHOG000048190
HOVERGENiHBG058477
InParanoidiQ13905
KOiK06277
OMAiPVHQSQS
OrthoDBi231215at2759
PhylomeDBiQ13905
TreeFamiTF317296

Enzyme and pathway databases

ReactomeiR-HSA-170968 Frs2-mediated activation
R-HSA-186763 Downstream signal transduction
R-HSA-8875555 MET activates RAP1 and RAC1
R-HSA-9027284 Erythropoietin activates RAS
R-HSA-912631 Regulation of signaling by CBL
SIGNORiQ13905

Miscellaneous databases

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

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ChiTaRSi
RAPGEF1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
RAPGEF1

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

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GenomeRNAii
2889

Protein Ontology

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PROi
PR:Q13905

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000107263 Expressed in 196 organ(s), highest expression level in gastrocnemius
ExpressionAtlasiQ13905 baseline and differential
GenevisibleiQ13905 HS

Family and domain databases

CDDicd00155 RasGEF, 1 hit
cd06224 REM, 1 hit
Gene3Di1.10.840.10, 1 hit
InterProiView protein in InterPro
IPR008937 Ras-like_GEF
IPR000651 Ras-like_Gua-exchang_fac_N
IPR019804 Ras_G-nucl-exch_fac_CS
IPR023578 Ras_GEF_dom_sf
IPR001895 RASGEF_cat_dom
IPR036964 RASGEF_cat_dom_sf
PANTHERiPTHR23113 PTHR23113, 1 hit
PfamiView protein in Pfam
PF00617 RasGEF, 1 hit
PF00618 RasGEF_N, 1 hit
SMARTiView protein in SMART
SM00147 RasGEF, 1 hit
SM00229 RasGEFN, 1 hit
SUPFAMiSSF48366 SSF48366, 1 hit
PROSITEiView protein in PROSITE
PS00720 RASGEF, 1 hit
PS50009 RASGEF_CAT, 1 hit
PS50212 RASGEF_NTER, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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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 nameiRPGF1_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: Q13905
Secondary accession number(s): Q5JUE4, Q68DL3, Q8IV73
<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: November 15, 2002
Last sequence update: April 3, 2007
Last modified: April 10, 2019
This is version 181 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

3D-structure, Complete proteome, Reference proteome

Documents

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