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Protein

Pleckstrin homology domain-containing family G member 5

Gene

PLEKHG5

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 that activates RHOA and maybe the NF-kappa-B signaling pathway. Involved in the control of neuronal cell differentiation. Plays a role in angiogenesis through regulation of endothelial cells chemotaxis.2 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

Enzyme and pathway databases

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-416482 G alpha (12/13) signalling events

<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:
Pleckstrin homology domain-containing family G member 5
Short name:
PH domain-containing family G member 5
Alternative name(s):
Guanine nucleotide exchange factor 720
Short name:
GEF720
<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:PLEKHG5
Synonyms:KIAA0720
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000171680.20

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29105 PLEKHG5

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611101 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O94827

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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<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>Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasm, Membrane

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

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

Distal spinal muscular atrophy, autosomal recessive, 4 (DSMA4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neuromuscular disorder. Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. DSMA4 is characterized by childhood onset, generalized muscle weakness and atrophy with denervation and normal sensation. Bulbar symptoms and pyramidal signs are absent.
See also OMIM:611067
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_035357703F → S in DSMA4; stability and intracellular location affected severely impairing the NF-kappa-B transduction pathway. 1 PublicationCorresponds to variant dbSNP:rs63750315Ensembl.1
Charcot-Marie-Tooth disease, recessive, intermediate type, C (CMTRIC)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.
See also OMIM:615376
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070217719T → M in CMTRIC; in vitro assay suggests a defect in activating the NF-kappa-B signaling pathway. 1 PublicationCorresponds to variant dbSNP:rs397515456Ensembl.1
Natural variantiVAR_070218876G → R in CMTRIC; in vitro assay suggests a defect in activating the NF-kappa-B signaling pathway. 1 PublicationCorresponds to variant dbSNP:rs202191898Ensembl.1

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
57449

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
PLEKHG5

MalaCards human disease database

More...
MalaCardsi
PLEKHG5
MIMi611067 phenotype
615376 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000171680

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

More...
Orphaneti
369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
206580 Autosomal recessive lower motor neuron disease with childhood onset

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671164

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PLEKHG5

<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_00003071341 – 1062Pleckstrin homology domain-containing family G member 5Add BLAST1062

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 residuei785PhosphothreonineBy similarity1
Modified residuei790PhosphoserineBy similarity1
Modified residuei907PhosphoserineBy similarity1
Modified residuei932PhosphoserineBy similarity1
Modified residuei937PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O94827

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

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PaxDbi
O94827

PeptideAtlas

More...
PeptideAtlasi
O94827

PRoteomics IDEntifications database

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PRIDEi
O94827

ProteomicsDB human proteome resource

More...
ProteomicsDBi
50469
50470 [O94827-2]
50471 [O94827-3]
50472 [O94827-4]
50473 [O94827-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O94827

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

More...
PhosphoSitePlusi
O94827

<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

Predominantly expressed in the peripheral nervous system and brain. Highest expression is observed in heart, lung, kidney, testis and moderate expression is present in spleen, pancreas, skeletal muscle, ovary and liver. Weakly expressed in glioblastoma (GBM) cell lines.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000171680 Expressed in 123 organ(s), highest expression level in right hemisphere of cerebellum

CleanEx database of gene expression profiles

More...
CleanExi
HS_PLEKHG5

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O94827 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O94827 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA049570

<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 GIPC1/synectin and RHOA.By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121522, 16 interactors

Protein interaction database and analysis system

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IntActi
O94827, 3 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000366977

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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O94827

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

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SMRi
O94827

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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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>Domaini392 – 584DHPROSITE-ProRule annotationAdd BLAST193
Domaini640 – 740PHPROSITE-ProRule annotationAdd BLAST101

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 biasi94 – 99Poly-Glu6
Compositional biasi761 – 781Glu-richAdd BLAST21

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3521 Eukaryota
ENOG410XRPT LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00510000046843

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000049145

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG058106

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O94827

KEGG Orthology (KO)

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KOi
K19464

Identification of Orthologs from Complete Genome Data

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OMAi
GISAQHR

Database of Orthologous Groups

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OrthoDBi
EOG091G00RK

Database for complete collections of gene phylogenies

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PhylomeDBi
O94827

TreeFam database of animal gene trees

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TreeFami
TF316755

Family and domain databases

Conserved Domains Database

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CDDi
cd00160 RhoGEF, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.900.10, 1 hit
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR040181 PKHG5/6/7
IPR029071 Ubiquitin-like_domsf

The PANTHER Classification System

More...
PANTHERi
PTHR13217 PTHR13217, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00621 RhoGEF, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00233 PH, 1 hit
SM00325 RhoGEF, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48065 SSF48065, 1 hit
SSF54236 SSF54236, 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

<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 (7+)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 7 <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 7 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O94827-1) [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
MDDQSPAEKK GLRCQNPACM DKGRAAKVCH HADCQQLHRR GPLNLCEACD
60 70 80 90 100
SKFHSTMHYD GHVRFDLPPQ GSVLARNVST RSCPPRTSPA VDLEEEEEES
110 120 130 140 150
SVDGKGDRKS TGLKLSKKKA RRRHTDDPSK ECFTLKFDLN VDIETEIVPA
160 170 180 190 200
MKKKSLGEVL LPVFERKGIA LGKVDIYLDQ SNTPLSLTFE AYRFGGHYLR
210 220 230 240 250
VKAPAKPGDE GKVEQGMKDS KSLSLPILRP AGTGPPALER VDAQSRRESL
260 270 280 290 300
DILAPGRRRK NMSEFLGEAS IPGQEPPTPS SCSLPSGSSG STNTGDSWKN
310 320 330 340 350
RAASRFSGFF SSGPSTSAFG REVDKMEQLE GKLHTYSLFG LPRLPRGLRF
360 370 380 390 400
DHDSWEEEYD EDEDEDNACL RLEDSWRELI DGHEKLTRRQ CHQQEAVWEL
410 420 430 440 450
LHTEASYIRK LRVIINLFLC CLLNLQESGL LCEVEAERLF SNIPEIAQLH
460 470 480 490 500
RRLWASVMAP VLEKARRTRA LLQPGDFLKG FKMFGSLFKP YIRYCMEEEG
510 520 530 540 550
CMEYMRGLLR DNDLFRAYIT WAEKHPQCQR LKLSDMLAKP HQRLTKYPLL
560 570 580 590 600
LKSVLRKTEE PRAKEAVVAM IGSVERFIHH VNACMRQRQE RQRLAAVVSR
610 620 630 640 650
IDAYEVVESS SDEVDKLLKE FLHLDLTAPI PGASPEETRQ LLLEGSLRMK
660 670 680 690 700
EGKDSKMDVY CFLFTDLLLV TKAVKKAERT RVIRPPLLVD KIVCRELRDP
710 720 730 740 750
GSFLLIYLNE FHSAVGAYTF QASGQALCRG WVDTIYNAQN QLQQLRAQEP
760 770 780 790 800
PGSQQPLQSL EEEEDEQEEE EEEEEEEEEG EDSGTSAASS PTIMRKSSGS
810 820 830 840 850
PDSQHCASDG STETLAMVVV EPGDTLSSPE FDSGPFSSQS DETSLSTTAS
860 870 880 890 900
SATPTSELLP LGPVDGRSCS MDSAYGTLSP TSLQDFVAPG PMAELVPRAP
910 920 930 940 950
ESPRVPSPPP SPRLRRRTPV QLLSCPPHLL KSKSEASLLQ LLAGAGTHGT
960 970 980 990 1000
PSAPSRSLSE LCLAVPAPGI RTQGSPQEAG PSWDCRGAPS PGSGPGLVGC
1010 1020 1030 1040 1050
LAGEPAGSHR KRCGDLPSGA SPRVQPEPPP GVSAQHRKLT LAQLYRIRTT
1060
LLLNSTLTAS EV
Length:1,062
Mass (Da):117,451
Last modified:October 23, 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:i20746D577B67B23F
GO
Isoform 2 (identifier: O94827-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MNSVLTKHGSPPRSWLSLCSGT

Note: No experimental confirmation available.
Show »
Length:1,083
Mass (Da):119,660
Checksum:i180C84118EB41D57
GO
Isoform 3 (identifier: O94827-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-19: Missing.

Note: No experimental confirmation available.
Show »
Length:1,043
Mass (Da):115,378
Checksum:i561BF06557096D6C
GO
Isoform 4 (identifier: O94827-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-56: Missing.
     969-986: GIRTQGSPQEAGPSWDCR → AQEADPGPALPNQDHPAA
     987-1062: Missing.

Note: No experimental confirmation available.
Show »
Length:930
Mass (Da):103,364
Checksum:i8938A81803D1B6FD
GO
Isoform 5 (identifier: O94827-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-56: Missing.

Note: No experimental confirmation available.
Show »
Length:1,006
Mass (Da):111,231
Checksum:i2260D175D3C27D76
GO
Isoform 6 (identifier: O94827-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2: MD → MSLGERGSPQTFGGSSVSKGSDAGH

Note: No experimental confirmation available.
Show »
Length:1,085
Mass (Da):119,623
Checksum:iF4199F780D2F945A
GO
Isoform 7 (identifier: O94827-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-27: MDDQSPAEKKGLRCQNPACMDKGRAAK → MGTGPGVSGRLAASRPGPGLPLRDSEPSWAGGRARDGDSQ

Note: No experimental confirmation available.Curated
Show »
Length:1,075
Mass (Da):118,479
Checksum:iFEC80DA35C9023F7
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5SY18Q5SY18_HUMAN
Pleckstrin homology domain-containi...
PLEKHG5
852Annotation 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>
A0A1W2PPJ8A0A1W2PPJ8_HUMAN
Pleckstrin homology domain-containi...
PLEKHG5
70Annotation 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 BAA34440 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAC77354 differs from that shown. Aberrant splicing.Curated
The sequence BAC85124 differs from that shown. Probable cloning artifact.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 conflicti162P → L in BAH11909 (PubMed:14702039).Curated1
Sequence conflicti294T → S in BAA34440 (PubMed:9872452).Curated1
Sequence conflicti570M → T in BAG53269 (PubMed:14702039).Curated1
Sequence conflicti637E → G in BAC77354 (PubMed:12761501).Curated1
Sequence conflicti778 – 779Missing in BAC77354 (PubMed:12761501).Curated2
Sequence conflicti960E → G in BAG53269 (PubMed:14702039).Curated1
Isoform 7 (identifier: O94827-7)
Sequence conflicti38D → E in BAH13058 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035357703F → S in DSMA4; stability and intracellular location affected severely impairing the NF-kappa-B transduction pathway. 1 PublicationCorresponds to variant dbSNP:rs63750315Ensembl.1
Natural variantiVAR_070217719T → M in CMTRIC; in vitro assay suggests a defect in activating the NF-kappa-B signaling pathway. 1 PublicationCorresponds to variant dbSNP:rs397515456Ensembl.1
Natural variantiVAR_070218876G → R in CMTRIC; in vitro assay suggests a defect in activating the NF-kappa-B signaling pathway. 1 PublicationCorresponds to variant dbSNP:rs202191898Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0369861 – 56Missing in isoform 4 and isoform 5. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_0459641 – 27MDDQS…GRAAK → MGTGPGVSGRLAASRPGPGL PLRDSEPSWAGGRARDGDSQ in isoform 7. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_0285831 – 19Missing in isoform 3. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_0447461 – 2MD → MSLGERGSPQTFGGSSVSKG SDAGH in isoform 6. 1 Publication2
Alternative sequenceiVSP_0285841M → MNSVLTKHGSPPRSWLSLCS GT in isoform 2. 1 Publication1
Alternative sequenceiVSP_036987969 – 986GIRTQ…SWDCR → AQEADPGPALPNQDHPAA in isoform 4. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_036988987 – 1062Missing in isoform 4. 1 PublicationAdd BLAST76

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
AB018263 mRNA Translation: BAA34440.2 Different initiation.
AK096347 mRNA Translation: BAG53269.1
AK294875 mRNA Translation: BAH11909.1
AK299523 mRNA Translation: BAH13058.1
AL591866 Genomic DNA No translation available.
AL158217 Genomic DNA No translation available.
CH471130 Genomic DNA Translation: EAW71539.1
CH471130 Genomic DNA Translation: EAW71547.1
BC015231 mRNA Translation: AAH15231.1
BC042606 mRNA No translation available.
AB097001 mRNA Translation: BAC77354.1 Sequence problems.
AK131074 mRNA Translation: BAC85124.1 Sequence problems.

The Consensus CDS (CCDS) project

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CCDSi
CCDS41240.1 [O94827-2]
CCDS41241.1 [O94827-1]
CCDS57967.1 [O94827-4]
CCDS57968.1 [O94827-7]
CCDS57969.1 [O94827-6]
CCDS79.1 [O94827-5]

NCBI Reference Sequences

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RefSeqi
NP_001036128.1, NM_001042663.1 [O94827-1]
NP_001036129.1, NM_001042664.1 [O94827-5]
NP_001036130.1, NM_001042665.1 [O94827-5]
NP_001252521.1, NM_001265592.1 [O94827-6]
NP_001252522.1, NM_001265593.1 [O94827-7]
NP_001252523.1, NM_001265594.1 [O94827-4]
NP_065682.2, NM_020631.4 [O94827-5]
NP_941374.2, NM_198681.3 [O94827-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.284232
Hs.462529
Hs.619982

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000340850; ENSP00000344570; ENSG00000171680 [O94827-5]
ENST00000377725; ENSP00000366954; ENSG00000171680 [O94827-4]
ENST00000377728; ENSP00000366957; ENSG00000171680 [O94827-5]
ENST00000377732; ENSP00000366961; ENSG00000171680 [O94827-3]
ENST00000377748; ENSP00000366977; ENSG00000171680 [O94827-2]
ENST00000400913; ENSP00000383704; ENSG00000171680 [O94827-5]
ENST00000400915; ENSP00000383706; ENSG00000171680 [O94827-1]
ENST00000535355; ENSP00000441445; ENSG00000171680 [O94827-7]
ENST00000537245; ENSP00000439625; ENSG00000171680 [O94827-6]

Database of genes from NCBI RefSeq genomes

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GeneIDi
57449

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57449

UCSC genome browser

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UCSCi
uc001ank.1 human [O94827-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AB018263 mRNA Translation: BAA34440.2 Different initiation.
AK096347 mRNA Translation: BAG53269.1
AK294875 mRNA Translation: BAH11909.1
AK299523 mRNA Translation: BAH13058.1
AL591866 Genomic DNA No translation available.
AL158217 Genomic DNA No translation available.
CH471130 Genomic DNA Translation: EAW71539.1
CH471130 Genomic DNA Translation: EAW71547.1
BC015231 mRNA Translation: AAH15231.1
BC042606 mRNA No translation available.
AB097001 mRNA Translation: BAC77354.1 Sequence problems.
AK131074 mRNA Translation: BAC85124.1 Sequence problems.
CCDSiCCDS41240.1 [O94827-2]
CCDS41241.1 [O94827-1]
CCDS57967.1 [O94827-4]
CCDS57968.1 [O94827-7]
CCDS57969.1 [O94827-6]
CCDS79.1 [O94827-5]
RefSeqiNP_001036128.1, NM_001042663.1 [O94827-1]
NP_001036129.1, NM_001042664.1 [O94827-5]
NP_001036130.1, NM_001042665.1 [O94827-5]
NP_001252521.1, NM_001265592.1 [O94827-6]
NP_001252522.1, NM_001265593.1 [O94827-7]
NP_001252523.1, NM_001265594.1 [O94827-4]
NP_065682.2, NM_020631.4 [O94827-5]
NP_941374.2, NM_198681.3 [O94827-2]
UniGeneiHs.284232
Hs.462529
Hs.619982

3D structure databases

ProteinModelPortaliO94827
SMRiO94827
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121522, 16 interactors
IntActiO94827, 3 interactors
STRINGi9606.ENSP00000366977

PTM databases

iPTMnetiO94827
PhosphoSitePlusiO94827

Polymorphism and mutation databases

BioMutaiPLEKHG5

Proteomic databases

EPDiO94827
PaxDbiO94827
PeptideAtlasiO94827
PRIDEiO94827
ProteomicsDBi50469
50470 [O94827-2]
50471 [O94827-3]
50472 [O94827-4]
50473 [O94827-5]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000340850; ENSP00000344570; ENSG00000171680 [O94827-5]
ENST00000377725; ENSP00000366954; ENSG00000171680 [O94827-4]
ENST00000377728; ENSP00000366957; ENSG00000171680 [O94827-5]
ENST00000377732; ENSP00000366961; ENSG00000171680 [O94827-3]
ENST00000377748; ENSP00000366977; ENSG00000171680 [O94827-2]
ENST00000400913; ENSP00000383704; ENSG00000171680 [O94827-5]
ENST00000400915; ENSP00000383706; ENSG00000171680 [O94827-1]
ENST00000535355; ENSP00000441445; ENSG00000171680 [O94827-7]
ENST00000537245; ENSP00000439625; ENSG00000171680 [O94827-6]
GeneIDi57449
KEGGihsa:57449
UCSCiuc001ank.1 human [O94827-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
57449
DisGeNETi57449
EuPathDBiHostDB:ENSG00000171680.20

GeneCards: human genes, protein and diseases

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GeneCardsi
PLEKHG5
GeneReviewsiPLEKHG5
HGNCiHGNC:29105 PLEKHG5
HPAiHPA049570
MalaCardsiPLEKHG5
MIMi611067 phenotype
611101 gene
615376 phenotype
neXtProtiNX_O94827
OpenTargetsiENSG00000171680
Orphaneti369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
206580 Autosomal recessive lower motor neuron disease with childhood onset
PharmGKBiPA142671164

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3521 Eukaryota
ENOG410XRPT LUCA
GeneTreeiENSGT00510000046843
HOGENOMiHOG000049145
HOVERGENiHBG058106
InParanoidiO94827
KOiK19464
OMAiGISAQHR
OrthoDBiEOG091G00RK
PhylomeDBiO94827
TreeFamiTF316755

Enzyme and pathway databases

ReactomeiR-HSA-193648 NRAGE signals death through JNK
R-HSA-194840 Rho GTPase cycle
R-HSA-416482 G alpha (12/13) signalling events

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PLEKHG5

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

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GenomeRNAii
57449

Protein Ontology

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PROi
PR:O94827

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000171680 Expressed in 123 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_PLEKHG5
ExpressionAtlasiO94827 baseline and differential
GenevisibleiO94827 HS

Family and domain databases

CDDicd00160 RhoGEF, 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
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR040181 PKHG5/6/7
IPR029071 Ubiquitin-like_domsf
PANTHERiPTHR13217 PTHR13217, 1 hit
PfamiView protein in Pfam
PF00621 RhoGEF, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00325 RhoGEF, 1 hit
SUPFAMiSSF48065 SSF48065, 1 hit
SSF54236 SSF54236, 1 hit
PROSITEiView protein in PROSITE
PS50010 DH_2, 1 hit
PS50003 PH_DOMAIN, 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 nameiPKHG5_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: O94827
Secondary accession number(s): B3KU07
, B7Z2M3, B7Z5X2, F5GZ21, F5H1I0, Q5SY17, Q5T8W5, Q5T8W9, Q6ZNM0, Q7Z436, Q86YD8, Q96BS1
<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: October 23, 2007
Last sequence update: October 23, 2007
Last modified: December 5, 2018
This is version 151 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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