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O94827

- PKHG5_HUMAN

UniProt

O94827 - PKHG5_HUMAN

Protein

Pleckstrin homology domain-containing family G member 5

Gene

PLEKHG5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 3 (23 Oct 2007)
      Previous versions | rss
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    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

    GO - Molecular functioni

    1. Rho guanyl-nucleotide exchange factor activity Source: Ensembl
    2. signal transducer activity Source: UniProtKB

    GO - Biological processi

    1. apoptotic signaling pathway Source: Reactome
    2. endothelial cell chemotaxis Source: UniProtKB
    3. neurotrophin TRK receptor signaling pathway Source: Reactome
    4. positive regulation of apoptotic process Source: Reactome
    5. positive regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB
    6. regulation of small GTPase mediated signal transduction Source: Reactome
    7. small GTPase mediated signal transduction Source: Reactome

    Enzyme and pathway databases

    ReactomeiREACT_11051. Rho GTPase cycle.
    REACT_13638. NRAGE signals death through JNK.
    REACT_18407. G alpha (12/13) signalling events.

    Names & Taxonomyi

    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
    Gene namesi
    Name:PLEKHG5
    Synonyms:KIAA0720
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:29105. PLEKHG5.

    Subcellular locationi

    Cytoplasm By similarity. Cytoplasmperinuclear region By similarity. Cell junction By similarity. Cell projectionlamellipodium By similarity
    Note: Predominantly cytoplasmic, however when cells are stimulated found in perinuclear regions. Localized at cell-cell junctions in quiescent endothelial cells, it relocalizes to cytoplasmic vesicle and the leading edge of lamellipodia in migrating endothelial cells By similarity.By similarity

    GO - Cellular componenti

    1. cell-cell junction Source: UniProtKB
    2. cytoplasm Source: UniProtKB
    3. cytosol Source: Reactome
    4. endocytic vesicle Source: UniProtKB
    5. lamellipodium Source: UniProtKB
    6. perinuclear region of cytoplasm Source: UniProtKB-SubCell
    7. plasma membrane Source: Ensembl

    Keywords - Cellular componenti

    Cell junction, Cell projection, Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Distal spinal muscular atrophy, autosomal recessive, 4 (DSMA4) [MIM:611067]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti703 – 7031F → S in DSMA4; stability and intracellular location affected severely impairing the NF-kappa-B transduction pathway. 1 Publication
    VAR_035357
    Charcot-Marie-Tooth disease, recessive, intermediate type, C (CMTRIC) [MIM:615376]: A 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti719 – 7191T → M in CMTRIC; in vitro assay suggests a defect in activating the NF-kappa-B signaling pathway. 1 Publication
    VAR_070217
    Natural varianti876 – 8761G → R in CMTRIC; in vitro assay suggests a defect in activating the NF-kappa-B signaling pathway. 1 Publication
    VAR_070218

    Keywords - Diseasei

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

    Organism-specific databases

    MIMi611067. phenotype.
    615376. phenotype.
    Orphaneti369867. Autosomal recessive intermediate Charcot-Marie-Tooth disease type C.
    206580. Autosomal recessive lower motor neuron disease with childhood onset.
    PharmGKBiPA142671164.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10621062Pleckstrin homology domain-containing family G member 5PRO_0000307134Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei937 – 9371PhosphoserineBy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiO94827.
    PRIDEiO94827.

    PTM databases

    PhosphoSiteiO94827.

    Expressioni

    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

    ArrayExpressiO94827.
    BgeeiO94827.
    CleanExiHS_PLEKHG5.
    GenevestigatoriO94827.

    Organism-specific databases

    HPAiHPA049570.

    Interactioni

    Subunit structurei

    Interacts with GIPC1/synectin and RHOA.By similarity

    Protein-protein interaction databases

    BioGridi121522. 5 interactions.
    IntActiO94827. 2 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliO94827.
    SMRiO94827. Positions 336-738.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini392 – 584193DHPROSITE-ProRule annotationAdd
    BLAST
    Domaini640 – 740101PHPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi94 – 996Poly-Glu
    Compositional biasi761 – 78121Glu-richAdd
    BLAST

    Sequence similaritiesi

    Contains 1 DH (DBL-homology) domain.PROSITE-ProRule annotation
    Contains 1 PH domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG293366.
    HOVERGENiHBG058106.
    OMAiGISAQHR.
    OrthoDBiEOG73BVDB.
    PhylomeDBiO94827.
    TreeFamiTF316755.

    Family and domain databases

    Gene3Di1.20.900.10. 1 hit.
    2.30.29.30. 1 hit.
    InterProiIPR000219. DH-domain.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR029071. Ubiquitin-rel_dom.
    [Graphical view]
    PfamiPF00621. RhoGEF. 1 hit.
    [Graphical view]
    SMARTiSM00233. PH. 1 hit.
    SM00325. RhoGEF. 1 hit.
    [Graphical view]
    SUPFAMiSSF48065. SSF48065. 1 hit.
    SSF54236. SSF54236. 1 hit.
    PROSITEiPS50010. DH_2. 1 hit.
    PS50003. PH_DOMAIN. 1 hit.
    [Graphical view]

    Sequences (7)i

    Sequence statusi: Complete.

    This entry describes 7 isoformsi produced by alternative splicing. Align

    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

    MDDQSPAEKK GLRCQNPACM DKGRAAKVCH HADCQQLHRR GPLNLCEACD     50
    SKFHSTMHYD GHVRFDLPPQ GSVLARNVST RSCPPRTSPA VDLEEEEEES 100
    SVDGKGDRKS TGLKLSKKKA RRRHTDDPSK ECFTLKFDLN VDIETEIVPA 150
    MKKKSLGEVL LPVFERKGIA LGKVDIYLDQ SNTPLSLTFE AYRFGGHYLR 200
    VKAPAKPGDE GKVEQGMKDS KSLSLPILRP AGTGPPALER VDAQSRRESL 250
    DILAPGRRRK NMSEFLGEAS IPGQEPPTPS SCSLPSGSSG STNTGDSWKN 300
    RAASRFSGFF SSGPSTSAFG REVDKMEQLE GKLHTYSLFG LPRLPRGLRF 350
    DHDSWEEEYD EDEDEDNACL RLEDSWRELI DGHEKLTRRQ CHQQEAVWEL 400
    LHTEASYIRK LRVIINLFLC CLLNLQESGL LCEVEAERLF SNIPEIAQLH 450
    RRLWASVMAP VLEKARRTRA LLQPGDFLKG FKMFGSLFKP YIRYCMEEEG 500
    CMEYMRGLLR DNDLFRAYIT WAEKHPQCQR LKLSDMLAKP HQRLTKYPLL 550
    LKSVLRKTEE PRAKEAVVAM IGSVERFIHH VNACMRQRQE RQRLAAVVSR 600
    IDAYEVVESS SDEVDKLLKE FLHLDLTAPI PGASPEETRQ LLLEGSLRMK 650
    EGKDSKMDVY CFLFTDLLLV TKAVKKAERT RVIRPPLLVD KIVCRELRDP 700
    GSFLLIYLNE FHSAVGAYTF QASGQALCRG WVDTIYNAQN QLQQLRAQEP 750
    PGSQQPLQSL EEEEDEQEEE EEEEEEEEEG EDSGTSAASS PTIMRKSSGS 800
    PDSQHCASDG STETLAMVVV EPGDTLSSPE FDSGPFSSQS DETSLSTTAS 850
    SATPTSELLP LGPVDGRSCS MDSAYGTLSP TSLQDFVAPG PMAELVPRAP 900
    ESPRVPSPPP SPRLRRRTPV QLLSCPPHLL KSKSEASLLQ LLAGAGTHGT 950
    PSAPSRSLSE LCLAVPAPGI RTQGSPQEAG PSWDCRGAPS PGSGPGLVGC 1000
    LAGEPAGSHR KRCGDLPSGA SPRVQPEPPP GVSAQHRKLT LAQLYRIRTT 1050
    LLLNSTLTAS EV 1062
    Length:1,062
    Mass (Da):117,451
    Last modified:October 23, 2007 - v3
    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

    Sequence cautioni

    The sequence BAC77354.1 differs from that shown. Reason: Aberrant splicing.
    The sequence BAC85124.1 differs from that shown. Reason: Probable cloning artifact.
    The sequence BAA34440.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti162 – 1621P → L in BAH11909. (PubMed:14702039)Curated
    Sequence conflicti294 – 2941T → S in BAA34440. (PubMed:9872452)Curated
    Sequence conflicti570 – 5701M → T in BAG53269. (PubMed:14702039)Curated
    Sequence conflicti637 – 6371E → G in BAC77354. (PubMed:12761501)Curated
    Sequence conflicti778 – 7792Missing in BAC77354. (PubMed:12761501)Curated
    Sequence conflicti960 – 9601E → G in BAG53269. (PubMed:14702039)Curated
    Isoform 7 (identifier: O94827-7)
    Sequence conflicti38 – 381D → E in BAH13058. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti703 – 7031F → S in DSMA4; stability and intracellular location affected severely impairing the NF-kappa-B transduction pathway. 1 Publication
    VAR_035357
    Natural varianti719 – 7191T → M in CMTRIC; in vitro assay suggests a defect in activating the NF-kappa-B signaling pathway. 1 Publication
    VAR_070217
    Natural varianti876 – 8761G → R in CMTRIC; in vitro assay suggests a defect in activating the NF-kappa-B signaling pathway. 1 Publication
    VAR_070218

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 5656Missing in isoform 4 and isoform 5. 1 PublicationVSP_036986Add
    BLAST
    Alternative sequencei1 – 2727MDDQS…GRAAK → MGTGPGVSGRLAASRPGPGL PLRDSEPSWAGGRARDGDSQ in isoform 7. 1 PublicationVSP_045964Add
    BLAST
    Alternative sequencei1 – 1919Missing in isoform 3. 1 PublicationVSP_028583Add
    BLAST
    Alternative sequencei1 – 22MD → MSLGERGSPQTFGGSSVSKG SDAGH in isoform 6. 1 PublicationVSP_044746
    Alternative sequencei1 – 11M → MNSVLTKHGSPPRSWLSLCS GT in isoform 2. 1 PublicationVSP_028584
    Alternative sequencei969 – 98618GIRTQ…SWDCR → AQEADPGPALPNQDHPAA in isoform 4. 1 PublicationVSP_036987Add
    BLAST
    Alternative sequencei987 – 106276Missing in isoform 4. 1 PublicationVSP_036988Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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, AL158217 Genomic DNA. Translation: CAI16069.1.
    AL158217, AL591866 Genomic DNA. Translation: CAI22159.1.
    AL158217 Genomic DNA. Translation: CAI22161.1.
    AL158217 Genomic DNA. Translation: CAI22162.1.
    AL158217 Genomic DNA. Translation: CAI22164.1.
    AL158217 Genomic DNA. Translation: CAI22165.1.
    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.

    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.
    UCSCiuc001anj.1. human. [O94827-1]
    uc001anp.2. human. [O94827-2]
    uc009vmb.2. human. [O94827-4]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 , AL158217 Genomic DNA. Translation: CAI16069.1 .
    AL158217 , AL591866 Genomic DNA. Translation: CAI22159.1 .
    AL158217 Genomic DNA. Translation: CAI22161.1 .
    AL158217 Genomic DNA. Translation: CAI22162.1 .
    AL158217 Genomic DNA. Translation: CAI22164.1 .
    AL158217 Genomic DNA. Translation: CAI22165.1 .
    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.
    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 ]
    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 ]
    UniGenei Hs.284232.
    Hs.462529.
    Hs.619982.

    3D structure databases

    ProteinModelPortali O94827.
    SMRi O94827. Positions 336-738.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121522. 5 interactions.
    IntActi O94827. 2 interactions.

    PTM databases

    PhosphoSitei O94827.

    Proteomic databases

    PaxDbi O94827.
    PRIDEi O94827.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    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 ]
    GeneIDi 57449.
    KEGGi hsa:57449.
    UCSCi uc001anj.1. human. [O94827-1 ]
    uc001anp.2. human. [O94827-2 ]
    uc009vmb.2. human. [O94827-4 ]

    Organism-specific databases

    CTDi 57449.
    GeneCardsi GC01M006526.
    HGNCi HGNC:29105. PLEKHG5.
    HPAi HPA049570.
    MIMi 611067. phenotype.
    611101. gene.
    615376. phenotype.
    neXtProti NX_O94827.
    Orphaneti 369867. Autosomal recessive intermediate Charcot-Marie-Tooth disease type C.
    206580. Autosomal recessive lower motor neuron disease with childhood onset.
    PharmGKBi PA142671164.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG293366.
    HOVERGENi HBG058106.
    OMAi GISAQHR.
    OrthoDBi EOG73BVDB.
    PhylomeDBi O94827.
    TreeFami TF316755.

    Enzyme and pathway databases

    Reactomei REACT_11051. Rho GTPase cycle.
    REACT_13638. NRAGE signals death through JNK.
    REACT_18407. G alpha (12/13) signalling events.

    Miscellaneous databases

    GeneWikii PLEKHG5.
    GenomeRNAii 57449.
    NextBioi 63598.
    PROi O94827.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O94827.
    Bgeei O94827.
    CleanExi HS_PLEKHG5.
    Genevestigatori O94827.

    Family and domain databases

    Gene3Di 1.20.900.10. 1 hit.
    2.30.29.30. 1 hit.
    InterProi IPR000219. DH-domain.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR029071. Ubiquitin-rel_dom.
    [Graphical view ]
    Pfami PF00621. RhoGEF. 1 hit.
    [Graphical view ]
    SMARTi SM00233. PH. 1 hit.
    SM00325. RhoGEF. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48065. SSF48065. 1 hit.
    SSF54236. SSF54236. 1 hit.
    PROSITEi PS50010. DH_2. 1 hit.
    PS50003. PH_DOMAIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:277-286(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
      Tissue: Brain.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 6 AND 7).
      Tissue: Brain and Teratocarcinoma.
    3. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4).
      Tissue: Pancreas and Skin.
    6. "Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways."
      Matsuda A., Suzuki Y., Honda G., Muramatsu S., Matsuzaki O., Nagano Y., Doi T., Shimotohno K., Harada T., Nishida E., Hayashi H., Sugano S.
      Oncogene 22:3307-3318(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 75-1062 (ISOFORM 1), FUNCTION IN NF-KAPPA-B SIGNALING.
      Tissue: Lung fibroblast.
    7. "The nucleotide sequence of a long cDNA clone isolated from human spleen."
      Jikuya H., Takano J., Kikuno R., Nagase T., Ohara O.
      Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 158-1062 (ISOFORM 1).
      Tissue: Spleen.
    8. "The gene for a new brain specific RhoA exchange factor maps to the highly unstable chromosomal region 1p36.2-1p36.3."
      De Toledo M., Coulon V., Schmidt S., Fort P., Blangy A.
      Oncogene 20:7307-7317(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY.
    9. "A PDZ-binding motif as a critical determinant of Rho guanine exchange factor function and cell phenotype."
      Liu M., Horowitz A.
      Mol. Biol. Cell 17:1880-1887(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    10. Cited for: INVOLVEMENT IN CMTRIC.
    11. "The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset."
      Maystadt I., Rezsoehazy R., Barkats M., Duque S., Vannuffel P., Remacle S., Lambert B., Najimi M., Sokal E., Munnich A., Viollet L., Verellen-Dumoulin C.
      Am. J. Hum. Genet. 81:67-76(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DSMA4 SER-703.
    12. "Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease."
      Kim H.J., Hong Y.B., Park J.M., Choi Y.R., Kim Y.J., Yoon B.R., Koo H., Yoo J.H., Kim S.B., Park M., Chung K.W., Choi B.O.
      Orphanet J. Rare Dis. 8:104-104(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CMTRIC MET-719 AND ARG-876, CHARACTERIZATION OF VARIANTS CMTRIC MET-719 AND ARG-876.

    Entry informationi

    Entry nameiPKHG5_HUMAN
    AccessioniPrimary (citable) accession number: O94827
    Secondary accession number(s): B3KU07
    , B7Z2M3, B7Z5X2, F5GZ21, F5H1I0, Q5SY17, Q5T8W5, Q5T8W9, Q6ZNM0, Q7Z436, Q86YD8, Q96BS1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 23, 2007
    Last sequence update: October 23, 2007
    Last modified: October 1, 2014
    This is version 113 of the entry and version 3 of the sequence. [Complete history]
    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.

    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 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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3