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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-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

  • Rho guanyl-nucleotide exchange factor activity Source: Ensembl
  • signal transducer activity Source: UniProtKB

GO - Biological processi

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 Componenti: 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

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell projection, Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Distal spinal muscular atrophy, autosomal recessive, 4 (DSMA4)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA neuromuscular disorder. Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. DSMA4 is characterized by childhood onset, generalized muscle weakness and atrophy with denervation and normal sensation. Bulbar symptoms and pyramidal signs are absent.

See also OMIM:611067
Feature keyPosition(s)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)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.

See also OMIM:615376
Feature keyPosition(s)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.

Polymorphism and mutation databases

BioMutaiPLEKHG5.

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

BgeeiO94827.
CleanExiHS_PLEKHG5.
ExpressionAtlasiO94827. baseline and differential.
GenevisibleiO94827. HS.

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.
STRINGi9606.ENSP00000366977.

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.
GeneTreeiENSGT00510000046843.
HOGENOMiHOG000049145.
HOVERGENiHBG058106.
InParanoidiO94827.
OMAiGISAQHR.
OrthoDBiEOG73BVDB.
PhylomeDBiO94827.
TreeFamiTF316755.

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR000219. DH-domain.
IPR011993. PH-like_dom.
IPR001849. PH_domain.
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. AlignAdd to basket

Isoform 1 (identifier: O94827-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDDQSPAEKK GLRCQNPACM DKGRAAKVCH HADCQQLHRR GPLNLCEACD
60 70 80 90 100
SKFHSTMHYD GHVRFDLPPQ GSVLARNVST RSCPPRTSPA VDLEEEEEES
110 120 130 140 150
SVDGKGDRKS TGLKLSKKKA RRRHTDDPSK ECFTLKFDLN VDIETEIVPA
160 170 180 190 200
MKKKSLGEVL LPVFERKGIA LGKVDIYLDQ SNTPLSLTFE AYRFGGHYLR
210 220 230 240 250
VKAPAKPGDE GKVEQGMKDS KSLSLPILRP AGTGPPALER VDAQSRRESL
260 270 280 290 300
DILAPGRRRK NMSEFLGEAS IPGQEPPTPS SCSLPSGSSG STNTGDSWKN
310 320 330 340 350
RAASRFSGFF SSGPSTSAFG REVDKMEQLE GKLHTYSLFG LPRLPRGLRF
360 370 380 390 400
DHDSWEEEYD EDEDEDNACL RLEDSWRELI DGHEKLTRRQ CHQQEAVWEL
410 420 430 440 450
LHTEASYIRK LRVIINLFLC CLLNLQESGL LCEVEAERLF SNIPEIAQLH
460 470 480 490 500
RRLWASVMAP VLEKARRTRA LLQPGDFLKG FKMFGSLFKP YIRYCMEEEG
510 520 530 540 550
CMEYMRGLLR DNDLFRAYIT WAEKHPQCQR LKLSDMLAKP HQRLTKYPLL
560 570 580 590 600
LKSVLRKTEE PRAKEAVVAM IGSVERFIHH VNACMRQRQE RQRLAAVVSR
610 620 630 640 650
IDAYEVVESS SDEVDKLLKE FLHLDLTAPI PGASPEETRQ LLLEGSLRMK
660 670 680 690 700
EGKDSKMDVY CFLFTDLLLV TKAVKKAERT RVIRPPLLVD KIVCRELRDP
710 720 730 740 750
GSFLLIYLNE FHSAVGAYTF QASGQALCRG WVDTIYNAQN QLQQLRAQEP
760 770 780 790 800
PGSQQPLQSL EEEEDEQEEE EEEEEEEEEG EDSGTSAASS PTIMRKSSGS
810 820 830 840 850
PDSQHCASDG STETLAMVVV EPGDTLSSPE FDSGPFSSQS DETSLSTTAS
860 870 880 890 900
SATPTSELLP LGPVDGRSCS MDSAYGTLSP TSLQDFVAPG PMAELVPRAP
910 920 930 940 950
ESPRVPSPPP SPRLRRRTPV QLLSCPPHLL KSKSEASLLQ LLAGAGTHGT
960 970 980 990 1000
PSAPSRSLSE LCLAVPAPGI RTQGSPQEAG PSWDCRGAPS PGSGPGLVGC
1010 1020 1030 1040 1050
LAGEPAGSHR KRCGDLPSGA SPRVQPEPPP GVSAQHRKLT LAQLYRIRTT
1060
LLLNSTLTAS EV
Length:1,062
Mass (Da):117,451
Last modified:October 23, 2007 - v3
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 BAA34440.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAC77354.1 differs from that shown.Aberrant splicing.Curated
The sequence BAC85124.1 differs from that shown.Probable cloning artifact.Curated

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:
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, 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.
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:
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, 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.

3D structure databases

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

Protein-protein interaction databases

BioGridi121522. 5 interactions.
IntActiO94827. 2 interactions.
STRINGi9606.ENSP00000366977.

PTM databases

PhosphoSiteiO94827.

Polymorphism and mutation databases

BioMutaiPLEKHG5.

Proteomic databases

PaxDbiO94827.
PRIDEiO94827.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000340850; ENSP00000344570; ENSG00000171680. [O94827-5]
ENST00000377725; ENSP00000366954; ENSG00000171680. [O94827-4]
ENST00000377728; ENSP00000366957; ENSG00000171680. [O94827-5]
ENST00000377732; ENSP00000366961; ENSG00000171680. [O94827-3]
ENST00000377748; ENSP00000366977; ENSG00000171680. [O94827-2]
ENST00000400913; ENSP00000383704; ENSG00000171680. [O94827-5]
ENST00000400915; ENSP00000383706; ENSG00000171680.
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]

Organism-specific databases

CTDi57449.
GeneCardsiGC01M006526.
HGNCiHGNC:29105. PLEKHG5.
HPAiHPA049570.
MIMi611067. phenotype.
611101. gene.
615376. phenotype.
neXtProtiNX_O94827.
Orphaneti369867. Autosomal recessive intermediate Charcot-Marie-Tooth disease type C.
206580. Autosomal recessive lower motor neuron disease with childhood onset.
PharmGKBiPA142671164.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG293366.
GeneTreeiENSGT00510000046843.
HOGENOMiHOG000049145.
HOVERGENiHBG058106.
InParanoidiO94827.
OMAiGISAQHR.
OrthoDBiEOG73BVDB.
PhylomeDBiO94827.
TreeFamiTF316755.

Enzyme and pathway databases

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

Miscellaneous databases

GeneWikiiPLEKHG5.
GenomeRNAii57449.
NextBioi63598.
PROiO94827.
SOURCEiSearch...

Gene expression databases

BgeeiO94827.
CleanExiHS_PLEKHG5.
ExpressionAtlasiO94827. baseline and differential.
GenevisibleiO94827. HS.

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR000219. DH-domain.
IPR011993. PH-like_dom.
IPR001849. PH_domain.
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]
ProtoNetiSearch...

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: July 22, 2015
This is version 120 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.