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Entry version 158 (02 Jun 2021)
Sequence version 2 (05 Sep 2006)
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Protein

Ephexin-1

Gene

NGEF

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

Acts as a guanine nucleotide exchange factor (GEF) which differentially activates the GTPases RHOA, RAC1 and CDC42. Plays a role in axon guidance regulating ephrin-induced growth cone collapse and dendritic spine morphogenesis. Upon activation by ephrin through EPHA4, the GEF activity switches toward RHOA resulting in its activation. Activated RHOA promotes cone retraction at the expense of RAC1- and CDC42-stimulated growth cone extension (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

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 functionDevelopmental protein, Guanine-nucleotide releasing factor
Biological processDifferentiation, Neurogenesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q8N5V2

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-193648, NRAGE signals death through JNK
R-HSA-194840, Rho GTPase cycle
R-HSA-3928663, EPHA-mediated growth cone collapse
R-HSA-416482, G alpha (12/13) signalling events

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q8N5V2

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q8N5V2

<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:
Ephexin-1
Alternative name(s):
Eph-interacting exchange protein
Neuronal guanine nucleotide exchange factor
<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:NGEF
<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)
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7807, NGEF

Online Mendelian Inheritance in Man (OMIM)

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MIMi
605991, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N5V2

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000066248.14

<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 projection, Cytoplasm, Membrane

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
25791

Open Targets

More...
OpenTargetsi
ENSG00000066248

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31613

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8N5V2, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NGEF

Domain mapping of disease mutations (DMDM)

More...
DMDMi
114152090

<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_00002483881 – 710Ephexin-1Add BLAST710

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 residuei179PhosphotyrosineBy similarity1

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

Src-dependent phosphorylation at Tyr-179 upon EPHA4 activation increases the guanine exchange factor activity toward RHOA. Phosphorylation by CDK5 upon EPHA4 activation by EFNA1 may regulate dendritic spine morphogenesis (By similarity).By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8N5V2

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8N5V2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8N5V2

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8N5V2

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

More...
PaxDbi
Q8N5V2

PeptideAtlas

More...
PeptideAtlasi
Q8N5V2

PRoteomics IDEntifications database

More...
PRIDEi
Q8N5V2

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
19359
72101 [Q8N5V2-1]
72102 [Q8N5V2-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N5V2

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

More...
PhosphoSitePlusi
Q8N5V2

<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

Highly expressed in brain specifically in caudate nucleus and to a lower extent in amygdala and hippocampus. Also detected in lung.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000066248, Expressed in putamen and 185 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8N5V2, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8N5V2, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000066248, Tissue enhanced (adrenal gland, brain, intestine)

<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 CDK5R1 and EPHA4; activated by EPHA4 through the CDK5 kinase.

By similarity

<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

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
117324, 66 interactors

Protein interaction database and analysis system

More...
IntActi
Q8N5V2, 38 interactors

Molecular INTeraction database

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MINTi
Q8N5V2

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000264051

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8N5V2, 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
Q8N5V2

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%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>Domaini273 – 457DHPROSITE-ProRule annotationAdd BLAST185
Domaini489 – 601PHPROSITE-ProRule annotationAdd BLAST113
Domaini612 – 673SH3PROSITE-ProRule annotationAdd BLAST62

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>Regioni1 – 273Regulatory region; modulates activity toward RHOA, RAC1 and CDC42By similarityAdd BLAST273
Regioni1 – 143DisorderedSequence analysisAdd BLAST143
Regioni194 – 236DisorderedSequence analysisAdd BLAST43
Regioni687 – 710DisorderedSequence analysisAdd BLAST24

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 biasi1 – 20Basic and acidic residuesSequence analysisAdd BLAST20
Compositional biasi30 – 58Basic and acidic residuesSequence analysisAdd BLAST29
Compositional biasi85 – 104Polar residuesSequence analysisAdd BLAST20
Compositional biasi121 – 138Polar residuesSequence analysisAdd BLAST18
Compositional biasi212 – 227Acidic residuesSequence analysisAdd BLAST16
Compositional biasi687 – 703Basic and acidic residuesSequence analysisAdd BLAST17

<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 DH domain and the PH domain are both required to mediate interaction with EPHA4.By similarity

Keywords - Domaini

SH3 domain

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3523, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT01030000234571

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_012820_5_1_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N5V2

Identification of Orthologs from Complete Genome Data

More...
OMAi
YQPVYLF

Database of Orthologous Groups

More...
OrthoDBi
1176939at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N5V2

TreeFam database of animal gene trees

More...
TreeFami
TF316357

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00160, RhoGEF, 1 hit
cd11939, SH3_ephexin1, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.900.10, 1 hit
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR035899, DBL_dom_sf
IPR000219, DH-domain
IPR035635, Ephexin-1_SH3
IPR011993, PH-like_dom_sf
IPR001849, PH_domain
IPR036028, SH3-like_dom_sf
IPR001452, SH3_domain

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00169, PH, 1 hit
PF00621, RhoGEF, 1 hit
PF00018, SH3_1, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00233, PH, 1 hit
SM00325, RhoGEF, 1 hit
SM00326, SH3, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48065, SSF48065, 1 hit
SSF50044, SSF50044, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50010, DH_2, 1 hit
PS50003, PH_DOMAIN, 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%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 (3+)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 3 <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 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8N5V2-1) [UniParc]FASTAAdd to basket

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
METRESEDLE KTRRKSASDQ WNTDNEPAKV KPELLPEKEE TSQADQDIQD
60 70 80 90 100
KEPHCHIPIK RNSIFNRSIR RKSKAKARDN PERNASCLAD SQDNGKSVNE
110 120 130 140 150
PLTLNIPWSR MPPCRTAMQT DPGAQEMSES SSTPGNGATP EEWPALADSP
160 170 180 190 200
TTLTEALRMI HPIPADSWRN LIEQIGLLYQ EYRDKSTLQE IETRRQQDAE
210 220 230 240 250
IEDNTNGSPA SEDTPEEEEE EEEEEEPASP PERKTLPQIC LLSNPHSRFN
260 270 280 290 300
LWQDLPEIRS SGVLEILQPE EIKLQEAMFE LVTSEASYYK SLNLLVSHFM
310 320 330 340 350
ENERIRKILH PSEAHILFSN VLDVLAVSER FLLELEHRME ENIVISDVCD
360 370 380 390 400
IVYRYAADHF SVYITYVSNQ TYQERTYKQL LQEKAAFREL IAQLELDPKC
410 420 430 440 450
RGLPFSSFLI LPFQRITRLK LLVQNILKRV EERSERECTA LDAHKELEMV
460 470 480 490 500
VKACNEGVRK MSRTEQMISI QKKMEFKIKS VPIISHSRWL LKQGELQQMS
510 520 530 540 550
GPKTSRTLRT KKLFHEIYLF LFNDLLVICR QIPGDKYQVF DSAPRGLLRV
560 570 580 590 600
EELEDQGQTL ANVFILRLLE NADDREATYM LKASSQSEMK RWMTSLAPNR
610 620 630 640 650
RTKFVSFTSR LLDCPQVQCV HPYVAQQPDE LTLELADILN ILDKTDDGWI
660 670 680 690 700
FGERLHDQER GWFPSSMTEE ILNPKIRSQN LKECFRVHKM DDPQRSQNKD
710
RRKLGSRNRQ
Length:710
Mass (Da):82,496
Last modified:September 5, 2006 - 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:i82A4CA71D4E7AE6E
GO
Isoform 2 (identifier: Q8N5V2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-92: Missing.
     93-127: DNGKSVNEPLTLNIPWSRMPPCRTAMQTDPGAQEM → MELLAAAFSAACAVDHDSSTSESDARDSAAGHLPG
     331-710: Missing.

Show »
Length:238
Mass (Da):26,595
Checksum:i7BE95285400E6900
GO
Isoform 3 (identifier: Q8N5V2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-92: Missing.
     93-127: DNGKSVNEPLTLNIPWSRMPPCRTAMQTDPGAQEM → MELLAAAFSAACAVDHDSSTSESDARDSAAGHLPG

Show »
Length:618
Mass (Da):71,387
Checksum:i715379B007A5E8BF
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
C9JTV7C9JTV7_HUMAN
Ephexin-1
NGEF
187Annotation 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>
H7C2C2H7C2C2_HUMAN
Ephexin-1
NGEF
97Annotation 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>
H7BZ39H7BZ39_HUMAN
Ephexin-1
NGEF
150Annotation score:

Annotation score:1 out of 5

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

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

The sequence AAH73962 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAX93288 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAC00686 differs from that shown. Reason: Frameshift.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti147A → T in CAC00686 (PubMed:10777665).Curated1
Sequence conflicti543A → R in CAC00686 (PubMed:10777665).Curated1
Sequence conflicti578T → I in CAC00686 (PubMed:10777665).Curated1
Sequence conflicti604F → S in BAG59830 (PubMed:14702039).Curated1
Sequence conflicti702R → M in BAG59830 (PubMed:14702039).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_02728978R → G. Corresponds to variant dbSNP:rs2271703Ensembl.1
Natural variantiVAR_027290111M → T1 PublicationCorresponds to variant dbSNP:rs4973588Ensembl.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_0202591 – 92Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST92
Alternative sequenceiVSP_02026093 – 127DNGKS…GAQEM → MELLAAAFSAACAVDHDSST SESDARDSAAGHLPG in isoform 2 and isoform 3. 2 PublicationsAdd BLAST35
Alternative sequenceiVSP_020261331 – 710Missing in isoform 2. 1 PublicationAdd BLAST380

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
AK297390 mRNA Translation: BAG59830.1
AC016692 Genomic DNA Translation: AAX93288.1 Different initiation.
AC106876 Genomic DNA Translation: AAY24359.1
BC031573 mRNA Translation: AAH31573.1
BC073962 mRNA Translation: AAH73962.1 Different initiation.
AJ238899 mRNA Translation: CAC00686.1 Frameshift.

The Consensus CDS (CCDS) project

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CCDSi
CCDS2500.1 [Q8N5V2-1]
CCDS46544.1 [Q8N5V2-3]

NCBI Reference Sequences

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RefSeqi
NP_001107562.1, NM_001114090.1 [Q8N5V2-3]
NP_062824.2, NM_019850.2 [Q8N5V2-1]
XP_011509225.1, XM_011510923.2 [Q8N5V2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000264051; ENSP00000264051; ENSG00000066248 [Q8N5V2-1]
ENST00000373552; ENSP00000362653; ENSG00000066248 [Q8N5V2-3]
ENST00000409079; ENSP00000387033; ENSG00000066248 [Q8N5V2-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
25791

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:25791

UCSC genome browser

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UCSCi
uc002vts.3, human [Q8N5V2-1]

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
AK297390 mRNA Translation: BAG59830.1
AC016692 Genomic DNA Translation: AAX93288.1 Different initiation.
AC106876 Genomic DNA Translation: AAY24359.1
BC031573 mRNA Translation: AAH31573.1
BC073962 mRNA Translation: AAH73962.1 Different initiation.
AJ238899 mRNA Translation: CAC00686.1 Frameshift.
CCDSiCCDS2500.1 [Q8N5V2-1]
CCDS46544.1 [Q8N5V2-3]
RefSeqiNP_001107562.1, NM_001114090.1 [Q8N5V2-3]
NP_062824.2, NM_019850.2 [Q8N5V2-1]
XP_011509225.1, XM_011510923.2 [Q8N5V2-1]

3D structure databases

SMRiQ8N5V2
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi117324, 66 interactors
IntActiQ8N5V2, 38 interactors
MINTiQ8N5V2
STRINGi9606.ENSP00000264051

PTM databases

iPTMnetiQ8N5V2
PhosphoSitePlusiQ8N5V2

Genetic variation databases

BioMutaiNGEF
DMDMi114152090

Proteomic databases

EPDiQ8N5V2
jPOSTiQ8N5V2
MassIVEiQ8N5V2
MaxQBiQ8N5V2
PaxDbiQ8N5V2
PeptideAtlasiQ8N5V2
PRIDEiQ8N5V2
ProteomicsDBi19359
72101 [Q8N5V2-1]
72102 [Q8N5V2-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
2119, 134 antibodies

The DNASU plasmid repository

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DNASUi
25791

Genome annotation databases

EnsembliENST00000264051; ENSP00000264051; ENSG00000066248 [Q8N5V2-1]
ENST00000373552; ENSP00000362653; ENSG00000066248 [Q8N5V2-3]
ENST00000409079; ENSP00000387033; ENSG00000066248 [Q8N5V2-2]
GeneIDi25791
KEGGihsa:25791
UCSCiuc002vts.3, human [Q8N5V2-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
25791
DisGeNETi25791

GeneCards: human genes, protein and diseases

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GeneCardsi
NGEF
HGNCiHGNC:7807, NGEF
HPAiENSG00000066248, Tissue enhanced (adrenal gland, brain, intestine)
MIMi605991, gene
neXtProtiNX_Q8N5V2
OpenTargetsiENSG00000066248
PharmGKBiPA31613
VEuPathDBiHostDB:ENSG00000066248.14

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3523, Eukaryota
GeneTreeiENSGT01030000234571
HOGENOMiCLU_012820_5_1_1
InParanoidiQ8N5V2
OMAiYQPVYLF
OrthoDBi1176939at2759
PhylomeDBiQ8N5V2
TreeFamiTF316357

Enzyme and pathway databases

PathwayCommonsiQ8N5V2
ReactomeiR-HSA-193648, NRAGE signals death through JNK
R-HSA-194840, Rho GTPase cycle
R-HSA-3928663, EPHA-mediated growth cone collapse
R-HSA-416482, G alpha (12/13) signalling events
SignaLinkiQ8N5V2
SIGNORiQ8N5V2

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
25791, 5 hits in 984 CRISPR screens

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

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ChiTaRSi
NGEF, human

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

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GenomeRNAii
25791
PharosiQ8N5V2, Tbio

Protein Ontology

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PROi
PR:Q8N5V2
RNActiQ8N5V2, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000066248, Expressed in putamen and 185 other tissues
ExpressionAtlasiQ8N5V2, baseline and differential
GenevisibleiQ8N5V2, HS

Family and domain databases

CDDicd00160, RhoGEF, 1 hit
cd11939, SH3_ephexin1, 1 hit
Gene3Di1.20.900.10, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR035899, DBL_dom_sf
IPR000219, DH-domain
IPR035635, Ephexin-1_SH3
IPR011993, PH-like_dom_sf
IPR001849, PH_domain
IPR036028, SH3-like_dom_sf
IPR001452, SH3_domain
PfamiView protein in Pfam
PF00169, PH, 1 hit
PF00621, RhoGEF, 1 hit
PF00018, SH3_1, 1 hit
SMARTiView protein in SMART
SM00233, PH, 1 hit
SM00325, RhoGEF, 1 hit
SM00326, SH3, 1 hit
SUPFAMiSSF48065, SSF48065, 1 hit
SSF50044, SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS50010, DH_2, 1 hit
PS50003, PH_DOMAIN, 1 hit
PS50002, SH3, 1 hit

MobiDB: a database of protein disorder and mobility annotations

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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 nameiNGEF_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: Q8N5V2
Secondary accession number(s): B4DMB8
, B9A045, E9PC42, Q53QQ4, Q53ST7, Q6GMQ5, Q9NQD6
<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: September 5, 2006
Last sequence update: September 5, 2006
Last modified: June 2, 2021
This is version 158 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

Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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
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