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UniProtKB - O94827 (PKHG5_HUMAN)

Entry version 160 (11 Dec 2019)
Sequence version 3 (23 Oct 2007)
Previous versions | rss
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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

Functions as a guanine exchange factor (GEF) for RAB26 and thus regulates autophagy of synaptic vesicles in axon terminal of motoneurons (By similarity). Involved in the control of neuronal cell differentiation (PubMed:11704860). Plays a role in angiogenesis through regulation of endothelial cells chemotaxis. Affects also the migration, adhesion, and matrix/bone degradation in macrophages and osteoclasts (PubMed:23777631).By similarity2 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 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 & Seán O’Donoghue; 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_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.
Related information in OMIM
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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O94827 Tbio

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

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O94827

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O94827

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

More...PaxDbi		O94827

PeptideAtlas

More...PeptideAtlasi		O94827

PRoteomics IDEntifications database

More...PRIDEi		O94827

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		24913
25662
50469 [O94827-1]
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

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O94827 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...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

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		121522, 16 interactors

Protein interaction database and analysis system

More...IntActi		O94827, 16 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000439625

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O94827 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		O94827

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>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

More...eggNOGi		KOG3521 Eukaryota
ENOG410XRPT LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00510000046843

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000049145

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O94827

KEGG Orthology (KO)

More...KOi		K19464

Identification of Orthologs from Complete Genome Data

More...OMAi		LQFEAYR

Database of Orthologous Groups

More...OrthoDBi		556467at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O94827

TreeFam database of animal gene trees

More...TreeFami		TF316755

Family and domain databases

Conserved Domains Database

More...CDDi		cd00160 RhoGEF, 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
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR040181 PKHG5/7
IPR029071 Ubiquitin-like_domsf

The PANTHER Classification System

More...PANTHERi		PTHR13217 PTHR13217, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00621 RhoGEF, 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

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>. 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 (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 <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
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

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.

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.

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.

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

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

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>
A0A5F9ZHW8A0A5F9ZHW8_HUMAN
Pleckstrin homology domain-containi...
PLEKHG5
1,105Annotation 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. Extended N-terminus.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.<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

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

More...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

More...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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...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

More...GeneIDi		57449

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:57449

UCSC genome browser

More...UCSCi		uc001ank.1 human [O94827-1]

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

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]

3D structure databases

SMRiO94827
ModBaseiSearch...

Protein-protein interaction databases

BioGridi121522, 16 interactors
IntActiO94827, 16 interactors
STRINGi9606.ENSP00000439625

PTM databases

iPTMnetiO94827
PhosphoSitePlusiO94827

Polymorphism and mutation databases

BioMutaiPLEKHG5

Proteomic databases

jPOSTiO94827
MassIVEiO94827
PaxDbiO94827
PeptideAtlasiO94827
PRIDEiO94827
ProteomicsDBi24913
25662
50469 [O94827-1]
50470 [O94827-2]
50471 [O94827-3]
50472 [O94827-4]
50473 [O94827-5]

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

More...CTDi		57449
DisGeNETi57449
EuPathDBiHostDB:ENSG00000171680.20

GeneCards: human genes, protein and diseases

More...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

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3521 Eukaryota
ENOG410XRPT LUCA
GeneTreeiENSGT00510000046843
HOGENOMiHOG000049145
InParanoidiO94827
KOiK19464
OMAiLQFEAYR
OrthoDBi556467at2759
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

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

More...ChiTaRSi		PLEKHG5 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PLEKHG5

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

More...GenomeRNAii		57449
PharosiO94827 Tbio

Protein Ontology

More...PROi		PR:O94827
RNActiO94827 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000171680 Expressed in 123 organ(s), highest expression level in right hemisphere of cerebellum
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 PKHG5/7
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

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry 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 11, 2019
This is version 160 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

Reference proteome

Documents

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