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O94827

- PKHG5_HUMAN

UniProt

O94827 - PKHG5_HUMAN

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Protein

Pleckstrin homology domain-containing family G member 5

Gene
PLEKHG5, KIAA0720
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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.

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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 – 9371Phosphoserine By 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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini392 – 584193DHAdd
BLAST
Domaini640 – 740101PHAdd
BLAST

Compositional bias

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

Sequence similaritiesi

Contains 1 PH domain.

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.

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.

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. VSP_036986Add
BLAST
Alternative sequencei1 – 2727MDDQS…GRAAK → MGTGPGVSGRLAASRPGPGL PLRDSEPSWAGGRARDGDSQ in isoform 7. VSP_045964Add
BLAST
Alternative sequencei1 – 1919Missing in isoform 3. VSP_028583Add
BLAST
Alternative sequencei1 – 22MD → MSLGERGSPQTFGGSSVSKG SDAGH in isoform 6. VSP_044746
Alternative sequencei1 – 11M → MNSVLTKHGSPPRSWLSLCS GT in isoform 2. VSP_028584
Alternative sequencei969 – 98618GIRTQ…SWDCR → AQEADPGPALPNQDHPAA in isoform 4. VSP_036987Add
BLAST
Alternative sequencei987 – 106276Missing in isoform 4. VSP_036988Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti162 – 1621P → L in BAH11909. 1 Publication
Sequence conflicti294 – 2941T → S in BAA34440. 1 Publication
Sequence conflicti570 – 5701M → T in BAG53269. 1 Publication
Sequence conflicti637 – 6371E → G in BAC77354. 1 Publication
Sequence conflicti778 – 7792Missing in BAC77354. 1 Publication
Sequence conflicti960 – 9601E → G in BAG53269. 1 Publication
Isoform 7 (identifier: O94827-7)
Sequence conflicti38 – 381D → E in BAH13058. 1 Publication

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]
ENST00000377737; ENSP00000366966; ENSG00000171680. [O94827-5]
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]
ENST00000544978; ENSP00000437710; ENSG00000171680. [O94827-4]
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 ]
ENST00000377737 ; ENSP00000366966 ; ENSG00000171680 . [O94827-5 ]
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 ]
ENST00000544978 ; ENSP00000437710 ; ENSG00000171680 . [O94827-4 ]
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 112 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

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