PLEKHG5

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

guanyl-nucleotide exchange factor activity Source: Reactome
Rho guanyl-nucleotide exchange factor activity Source: Reactome

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

endothelial cell chemotaxis Source: UniProtKB
G protein-coupled receptor signaling pathway Source: Reactome
positive regulation of apoptotic process Source: Reactome
positive regulation of I-kappaB kinase/NF-kappaB signaling
Source: UniProtKB
Inferred from high throughput mutant phenotypeⁱ
- 12761501
regulation of protein catabolic process at presynapse, modulating synaptic transmission Source: Ensembl
regulation of Rho protein signal transduction Source: InterPro
regulation of small GTPase mediated signal transduction Source: Reactome

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

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

Reactomeⁱ

R-HSA-193648 NRAGE signals death through JNK
R-HSA-194840 Rho GTPase cycle
R-HSA-416482 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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 1

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000171680.20
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:29105 PLEKHG5
MIMⁱ	611101 gene
neXtProtⁱ	NX_O94827

Keywords - Cellular componentⁱ

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

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.

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.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_070217	719	T → 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_070218	876	G → 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
MalaCards human disease database More...MalaCardsⁱ	PLEKHG5
MIMⁱ	611067 phenotype 615376 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000171680
Orphanetⁱ	369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C 206580 Autosomal recessive lower motor neuron disease with childhood onset
PharmGKBⁱ	PA142671164

Polymorphism and mutation databases

BioMutaⁱ	PLEKHG5

BioMutaⁱ

PLEKHG5

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000307134	1 – 1062	Pleckstrin homology domain-containing family G member 5Add BLAST		1062

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	785	PhosphothreonineBy similarity	1
Modified residueⁱ	790	PhosphoserineBy similarity	1
Modified residueⁱ	907	PhosphoserineBy similarity	1
Modified residueⁱ	932	PhosphoserineBy similarity	1
Modified residueⁱ	937	PhosphoserineBy similarity	1

Keywords - PTMⁱ

Phosphoprotein

Proteomic databases

EPDⁱ	O94827
PaxDbⁱ	O94827
PeptideAtlas More...PeptideAtlasⁱ	O94827
PRIDEⁱ	O94827
ProteomicsDBⁱ	50469 50470 [O94827-2] 50471 [O94827-3] 50472 [O94827-4] 50473 [O94827-5]

PTM databases

iPTMnetⁱ	O94827
PhosphoSitePlusⁱ	O94827

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

Bgeeⁱ	ENSG00000171680 Expressed in 123 organ(s), highest expression level in right hemisphere of cerebellum
CleanExⁱ	HS_PLEKHG5
ExpressionAtlasⁱ	O94827 baseline and differential
Genevisibleⁱ	O94827 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA049570

HPAⁱ

HPA049570

Interactionⁱ

Subunit structureⁱ

Interacts with GIPC1/synectin and RHOA.By similarity

GO - Molecular functionⁱ

guanyl-nucleotide exchange factor activity Source: Reactome
Rho guanyl-nucleotide exchange factor activity Source: Reactome

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	121522, 16 interactors
IntActⁱ	O94827, 3 interactors
STRINGⁱ	9606.ENSP00000366977

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	O94827
SMRⁱ	O94827
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	392 – 584	DHPROSITE-ProRule annotationAdd BLAST		193
Domainⁱ	640 – 740	PHPROSITE-ProRule annotationAdd BLAST		101

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	94 – 99	Poly-Glu		6
Compositional biasⁱ	761 – 781	Glu-richAdd BLAST		21

Phylogenomic databases

eggNOGⁱ	KOG3521 Eukaryota ENOG410XRPT LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00510000046843
HOGENOMⁱ	HOG000049145
HOVERGENⁱ	HBG058106
InParanoidⁱ	O94827
KEGG Orthology (KO) More...KOⁱ	K19464
OMAⁱ	GISAQHR
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G00RK
PhylomeDBⁱ	O94827
TreeFamⁱ	TF316755

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00160 RhoGEF, 1 hit
Gene3Dⁱ	1.20.900.10, 1 hit 2.30.29.30, 1 hit
InterProⁱ	View protein in InterPro IPR035899 DBL_dom_sf IPR000219 DH-domain IPR011993 PH-like_dom_sf IPR001849 PH_domain IPR029071 Ubiquitin-like_domsf
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00621 RhoGEF, 1 hit
SMARTⁱ	View protein in SMART SM00233 PH, 1 hit SM00325 RhoGEF, 1 hit
SUPFAMⁱ	SSF48065 SSF48065, 1 hit SSF54236 SSF54236, 1 hit
PROSITEⁱ	View protein in PROSITE PS50010 DH_2, 1 hit PS50003 PH_DOMAIN, 1 hit

Sequences (7+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 7 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 7 described isoforms and 2 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: O94827-1) [UniParc]FASTA Add 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.

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        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]FASTA Add to basket

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

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        10         20         30         40         50
MNSVLTKHGS PPRSWLSLCS GTDDQSPAEK KGLRCQNPAC MDKGRAAKVC 
        60         70         80         90        100
HHADCQQLHR RGPLNLCEAC DSKFHSTMHY DGHVRFDLPP QGSVLARNVS 
       110        120        130        140        150
TRSCPPRTSP AVDLEEEEEE SSVDGKGDRK STGLKLSKKK ARRRHTDDPS 
       160        170        180        190        200
KECFTLKFDL NVDIETEIVP AMKKKSLGEV LLPVFERKGI ALGKVDIYLD 
       210        220        230        240        250
QSNTPLSLTF EAYRFGGHYL RVKAPAKPGD EGKVEQGMKD SKSLSLPILR 
       260        270        280        290        300
PAGTGPPALE RVDAQSRRES LDILAPGRRR KNMSEFLGEA SIPGQEPPTP 
       310        320        330        340        350
SSCSLPSGSS GSTNTGDSWK NRAASRFSGF FSSGPSTSAF GREVDKMEQL 
       360        370        380        390        400
EGKLHTYSLF GLPRLPRGLR FDHDSWEEEY DEDEDEDNAC LRLEDSWREL 
       410        420        430        440        450
IDGHEKLTRR QCHQQEAVWE LLHTEASYIR KLRVIINLFL CCLLNLQESG 
       460        470        480        490        500
LLCEVEAERL FSNIPEIAQL HRRLWASVMA PVLEKARRTR ALLQPGDFLK 
       510        520        530        540        550
GFKMFGSLFK PYIRYCMEEE GCMEYMRGLL RDNDLFRAYI TWAEKHPQCQ 
       560        570        580        590        600
RLKLSDMLAK PHQRLTKYPL LLKSVLRKTE EPRAKEAVVA MIGSVERFIH 
       610        620        630        640        650
HVNACMRQRQ ERQRLAAVVS RIDAYEVVES SSDEVDKLLK EFLHLDLTAP 
       660        670        680        690        700
IPGASPEETR QLLLEGSLRM KEGKDSKMDV YCFLFTDLLL VTKAVKKAER 
       710        720        730        740        750
TRVIRPPLLV DKIVCRELRD PGSFLLIYLN EFHSAVGAYT FQASGQALCR 
       760        770        780        790        800
GWVDTIYNAQ NQLQQLRAQE PPGSQQPLQS LEEEEDEQEE EEEEEEEEEE 
       810        820        830        840        850
GEDSGTSAAS SPTIMRKSSG SPDSQHCASD GSTETLAMVV VEPGDTLSSP 
       860        870        880        890        900
EFDSGPFSSQ SDETSLSTTA SSATPTSELL PLGPVDGRSC SMDSAYGTLS 
       910        920        930        940        950
PTSLQDFVAP GPMAELVPRA PESPRVPSPP PSPRLRRRTP VQLLSCPPHL 
       960        970        980        990       1000
LKSKSEASLL QLLAGAGTHG TPSAPSRSLS ELCLAVPAPG IRTQGSPQEA 
      1010       1020       1030       1040       1050
GPSWDCRGAP SPGSGPGLVG CLAGEPAGSH RKRCGDLPSG ASPRVQPEPP 
      1060       1070       1080 
PGVSAQHRKL TLAQLYRIRT TLLLNSTLTA SEV

Note: No experimental confirmation available.

Show »

Length:1,083

Mass (Da):119,660

Checksum:ⁱ180C84118EB41D57

GO

Isoform 3 (identifier: O94827-3) [UniParc]FASTA Add to basket

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

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        10         20         30         40         50
MDKGRAAKVC HHADCQQLHR RGPLNLCEAC DSKFHSTMHY DGHVRFDLPP 
        60         70         80         90        100
QGSVLARNVS TRSCPPRTSP AVDLEEEEEE SSVDGKGDRK STGLKLSKKK 
       110        120        130        140        150
ARRRHTDDPS KECFTLKFDL NVDIETEIVP AMKKKSLGEV LLPVFERKGI 
       160        170        180        190        200
ALGKVDIYLD QSNTPLSLTF EAYRFGGHYL RVKAPAKPGD EGKVEQGMKD 
       210        220        230        240        250
SKSLSLPILR PAGTGPPALE RVDAQSRRES LDILAPGRRR KNMSEFLGEA 
       260        270        280        290        300
SIPGQEPPTP SSCSLPSGSS GSTNTGDSWK NRAASRFSGF FSSGPSTSAF 
       310        320        330        340        350
GREVDKMEQL EGKLHTYSLF GLPRLPRGLR FDHDSWEEEY DEDEDEDNAC 
       360        370        380        390        400
LRLEDSWREL IDGHEKLTRR QCHQQEAVWE LLHTEASYIR KLRVIINLFL 
       410        420        430        440        450
CCLLNLQESG LLCEVEAERL FSNIPEIAQL HRRLWASVMA PVLEKARRTR 
       460        470        480        490        500
ALLQPGDFLK GFKMFGSLFK PYIRYCMEEE GCMEYMRGLL RDNDLFRAYI 
       510        520        530        540        550
TWAEKHPQCQ RLKLSDMLAK PHQRLTKYPL LLKSVLRKTE EPRAKEAVVA 
       560        570        580        590        600
MIGSVERFIH HVNACMRQRQ ERQRLAAVVS RIDAYEVVES SSDEVDKLLK 
       610        620        630        640        650
EFLHLDLTAP IPGASPEETR QLLLEGSLRM KEGKDSKMDV YCFLFTDLLL 
       660        670        680        690        700
VTKAVKKAER TRVIRPPLLV DKIVCRELRD PGSFLLIYLN EFHSAVGAYT 
       710        720        730        740        750
FQASGQALCR GWVDTIYNAQ NQLQQLRAQE PPGSQQPLQS LEEEEDEQEE 
       760        770        780        790        800
EEEEEEEEEE GEDSGTSAAS SPTIMRKSSG SPDSQHCASD GSTETLAMVV 
       810        820        830        840        850
VEPGDTLSSP EFDSGPFSSQ SDETSLSTTA SSATPTSELL PLGPVDGRSC 
       860        870        880        890        900
SMDSAYGTLS PTSLQDFVAP GPMAELVPRA PESPRVPSPP PSPRLRRRTP 
       910        920        930        940        950
VQLLSCPPHL LKSKSEASLL QLLAGAGTHG TPSAPSRSLS ELCLAVPAPG 
       960        970        980        990       1000
IRTQGSPQEA GPSWDCRGAP SPGSGPGLVG CLAGEPAGSH RKRCGDLPSG 
      1010       1020       1030       1040 
ASPRVQPEPP PGVSAQHRKL TLAQLYRIRT TLLLNSTLTA SEV

Note: No experimental confirmation available.

Show »

Length:1,043

Mass (Da):115,378

Checksum:ⁱ561BF06557096D6C

GO

Isoform 4 (identifier: O94827-4) [UniParc]FASTA Add to basket

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

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        10         20         30         40         50
MHYDGHVRFD LPPQGSVLAR NVSTRSCPPR TSPAVDLEEE EEESSVDGKG 
        60         70         80         90        100
DRKSTGLKLS KKKARRRHTD DPSKECFTLK FDLNVDIETE IVPAMKKKSL 
       110        120        130        140        150
GEVLLPVFER KGIALGKVDI YLDQSNTPLS LTFEAYRFGG HYLRVKAPAK 
       160        170        180        190        200
PGDEGKVEQG MKDSKSLSLP ILRPAGTGPP ALERVDAQSR RESLDILAPG 
       210        220        230        240        250
RRRKNMSEFL GEASIPGQEP PTPSSCSLPS GSSGSTNTGD SWKNRAASRF 
       260        270        280        290        300
SGFFSSGPST SAFGREVDKM EQLEGKLHTY SLFGLPRLPR GLRFDHDSWE 
       310        320        330        340        350
EEYDEDEDED NACLRLEDSW RELIDGHEKL TRRQCHQQEA VWELLHTEAS 
       360        370        380        390        400
YIRKLRVIIN LFLCCLLNLQ ESGLLCEVEA ERLFSNIPEI AQLHRRLWAS 
       410        420        430        440        450
VMAPVLEKAR RTRALLQPGD FLKGFKMFGS LFKPYIRYCM EEEGCMEYMR 
       460        470        480        490        500
GLLRDNDLFR AYITWAEKHP QCQRLKLSDM LAKPHQRLTK YPLLLKSVLR 
       510        520        530        540        550
KTEEPRAKEA VVAMIGSVER FIHHVNACMR QRQERQRLAA VVSRIDAYEV 
       560        570        580        590        600
VESSSDEVDK LLKEFLHLDL TAPIPGASPE ETRQLLLEGS LRMKEGKDSK 
       610        620        630        640        650
MDVYCFLFTD LLLVTKAVKK AERTRVIRPP LLVDKIVCRE LRDPGSFLLI 
       660        670        680        690        700
YLNEFHSAVG AYTFQASGQA LCRGWVDTIY NAQNQLQQLR AQEPPGSQQP 
       710        720        730        740        750
LQSLEEEEDE QEEEEEEEEE EEEGEDSGTS AASSPTIMRK SSGSPDSQHC 
       760        770        780        790        800
ASDGSTETLA MVVVEPGDTL SSPEFDSGPF SSQSDETSLS TTASSATPTS 
       810        820        830        840        850
ELLPLGPVDG RSCSMDSAYG TLSPTSLQDF VAPGPMAELV PRAPESPRVP 
       860        870        880        890        900
SPPPSPRLRR RTPVQLLSCP PHLLKSKSEA SLLQLLAGAG THGTPSAPSR 
       910        920        930
SLSELCLAVP APAQEADPGP ALPNQDHPAA

Note: No experimental confirmation available.

Show »

Length:930

Mass (Da):103,364

Checksum:ⁱ8938A81803D1B6FD

GO

Isoform 5 (identifier: O94827-5) [UniParc]FASTA Add to basket

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

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        10         20         30         40         50
MHYDGHVRFD LPPQGSVLAR NVSTRSCPPR TSPAVDLEEE EEESSVDGKG 
        60         70         80         90        100
DRKSTGLKLS KKKARRRHTD DPSKECFTLK FDLNVDIETE IVPAMKKKSL 
       110        120        130        140        150
GEVLLPVFER KGIALGKVDI YLDQSNTPLS LTFEAYRFGG HYLRVKAPAK 
       160        170        180        190        200
PGDEGKVEQG MKDSKSLSLP ILRPAGTGPP ALERVDAQSR RESLDILAPG 
       210        220        230        240        250
RRRKNMSEFL GEASIPGQEP PTPSSCSLPS GSSGSTNTGD SWKNRAASRF 
       260        270        280        290        300
SGFFSSGPST SAFGREVDKM EQLEGKLHTY SLFGLPRLPR GLRFDHDSWE 
       310        320        330        340        350
EEYDEDEDED NACLRLEDSW RELIDGHEKL TRRQCHQQEA VWELLHTEAS 
       360        370        380        390        400
YIRKLRVIIN LFLCCLLNLQ ESGLLCEVEA ERLFSNIPEI AQLHRRLWAS 
       410        420        430        440        450
VMAPVLEKAR RTRALLQPGD FLKGFKMFGS LFKPYIRYCM EEEGCMEYMR 
       460        470        480        490        500
GLLRDNDLFR AYITWAEKHP QCQRLKLSDM LAKPHQRLTK YPLLLKSVLR 
       510        520        530        540        550
KTEEPRAKEA VVAMIGSVER FIHHVNACMR QRQERQRLAA VVSRIDAYEV 
       560        570        580        590        600
VESSSDEVDK LLKEFLHLDL TAPIPGASPE ETRQLLLEGS LRMKEGKDSK 
       610        620        630        640        650
MDVYCFLFTD LLLVTKAVKK AERTRVIRPP LLVDKIVCRE LRDPGSFLLI 
       660        670        680        690        700
YLNEFHSAVG AYTFQASGQA LCRGWVDTIY NAQNQLQQLR AQEPPGSQQP 
       710        720        730        740        750
LQSLEEEEDE QEEEEEEEEE EEEGEDSGTS AASSPTIMRK SSGSPDSQHC 
       760        770        780        790        800
ASDGSTETLA MVVVEPGDTL SSPEFDSGPF SSQSDETSLS TTASSATPTS 
       810        820        830        840        850
ELLPLGPVDG RSCSMDSAYG TLSPTSLQDF VAPGPMAELV PRAPESPRVP 
       860        870        880        890        900
SPPPSPRLRR RTPVQLLSCP PHLLKSKSEA SLLQLLAGAG THGTPSAPSR 
       910        920        930        940        950
SLSELCLAVP APGIRTQGSP QEAGPSWDCR GAPSPGSGPG LVGCLAGEPA 
       960        970        980        990       1000
GSHRKRCGDL PSGASPRVQP EPPPGVSAQH RKLTLAQLYR IRTTLLLNST 

LTASEV

Note: No experimental confirmation available.

Show »

Length:1,006

Mass (Da):111,231

Checksum:ⁱ2260D175D3C27D76

GO

Isoform 6 (identifier: O94827-6) [UniParc]FASTA Add to basket

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

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        10         20         30         40         50
MSLGERGSPQ TFGGSSVSKG SDAGHDQSPA EKKGLRCQNP ACMDKGRAAK 
        60         70         80         90        100
VCHHADCQQL HRRGPLNLCE ACDSKFHSTM HYDGHVRFDL PPQGSVLARN 
       110        120        130        140        150
VSTRSCPPRT SPAVDLEEEE EESSVDGKGD RKSTGLKLSK KKARRRHTDD 
       160        170        180        190        200
PSKECFTLKF DLNVDIETEI VPAMKKKSLG EVLLPVFERK GIALGKVDIY 
       210        220        230        240        250
LDQSNTPLSL TFEAYRFGGH YLRVKAPAKP GDEGKVEQGM KDSKSLSLPI 
       260        270        280        290        300
LRPAGTGPPA LERVDAQSRR ESLDILAPGR RRKNMSEFLG EASIPGQEPP 
       310        320        330        340        350
TPSSCSLPSG SSGSTNTGDS WKNRAASRFS GFFSSGPSTS AFGREVDKME 
       360        370        380        390        400
QLEGKLHTYS LFGLPRLPRG LRFDHDSWEE EYDEDEDEDN ACLRLEDSWR 
       410        420        430        440        450
ELIDGHEKLT RRQCHQQEAV WELLHTEASY IRKLRVIINL FLCCLLNLQE 
       460        470        480        490        500
SGLLCEVEAE RLFSNIPEIA QLHRRLWASV MAPVLEKARR TRALLQPGDF 
       510        520        530        540        550
LKGFKMFGSL FKPYIRYCME EEGCMEYMRG LLRDNDLFRA YITWAEKHPQ 
       560        570        580        590        600
CQRLKLSDML AKPHQRLTKY PLLLKSVLRK TEEPRAKEAV VAMIGSVERF 
       610        620        630        640        650
IHHVNACMRQ RQERQRLAAV VSRIDAYEVV ESSSDEVDKL LKEFLHLDLT 
       660        670        680        690        700
APIPGASPEE TRQLLLEGSL RMKEGKDSKM DVYCFLFTDL LLVTKAVKKA 
       710        720        730        740        750
ERTRVIRPPL LVDKIVCREL RDPGSFLLIY LNEFHSAVGA YTFQASGQAL 
       760        770        780        790        800
CRGWVDTIYN AQNQLQQLRA QEPPGSQQPL QSLEEEEDEQ EEEEEEEEEE 
       810        820        830        840        850
EEGEDSGTSA ASSPTIMRKS SGSPDSQHCA SDGSTETLAM VVVEPGDTLS 
       860        870        880        890        900
SPEFDSGPFS SQSDETSLST TASSATPTSE LLPLGPVDGR SCSMDSAYGT 
       910        920        930        940        950
LSPTSLQDFV APGPMAELVP RAPESPRVPS PPPSPRLRRR TPVQLLSCPP 
       960        970        980        990       1000
HLLKSKSEAS LLQLLAGAGT HGTPSAPSRS LSELCLAVPA PGIRTQGSPQ 
      1010       1020       1030       1040       1050
EAGPSWDCRG APSPGSGPGL VGCLAGEPAG SHRKRCGDLP SGASPRVQPE 
      1060       1070       1080 
PPPGVSAQHR KLTLAQLYRI RTTLLLNSTL TASEV

Note: No experimental confirmation available.

Show »

Length:1,085

Mass (Da):119,623

Checksum:ⁱF4199F780D2F945A

GO

Isoform 7 (identifier: O94827-7) [UniParc]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MGTGPGVSGR LAASRPGPGL PLRDSEPSWA GGRARDGDSQ VCHHADCQQL 
        60         70         80         90        100
HRRGPLNLCE ACDSKFHSTM HYDGHVRFDL PPQGSVLARN VSTRSCPPRT 
       110        120        130        140        150
SPAVDLEEEE EESSVDGKGD RKSTGLKLSK KKARRRHTDD PSKECFTLKF 
       160        170        180        190        200
DLNVDIETEI VPAMKKKSLG EVLLPVFERK GIALGKVDIY LDQSNTPLSL 
       210        220        230        240        250
TFEAYRFGGH YLRVKAPAKP GDEGKVEQGM KDSKSLSLPI LRPAGTGPPA 
       260        270        280        290        300
LERVDAQSRR ESLDILAPGR RRKNMSEFLG EASIPGQEPP TPSSCSLPSG 
       310        320        330        340        350
SSGSTNTGDS WKNRAASRFS GFFSSGPSTS AFGREVDKME QLEGKLHTYS 
       360        370        380        390        400
LFGLPRLPRG LRFDHDSWEE EYDEDEDEDN ACLRLEDSWR ELIDGHEKLT 
       410        420        430        440        450
RRQCHQQEAV WELLHTEASY IRKLRVIINL FLCCLLNLQE SGLLCEVEAE 
       460        470        480        490        500
RLFSNIPEIA QLHRRLWASV MAPVLEKARR TRALLQPGDF LKGFKMFGSL 
       510        520        530        540        550
FKPYIRYCME EEGCMEYMRG LLRDNDLFRA YITWAEKHPQ CQRLKLSDML 
       560        570        580        590        600
AKPHQRLTKY PLLLKSVLRK TEEPRAKEAV VAMIGSVERF IHHVNACMRQ 
       610        620        630        640        650
RQERQRLAAV VSRIDAYEVV ESSSDEVDKL LKEFLHLDLT APIPGASPEE 
       660        670        680        690        700
TRQLLLEGSL RMKEGKDSKM DVYCFLFTDL LLVTKAVKKA ERTRVIRPPL 
       710        720        730        740        750
LVDKIVCREL RDPGSFLLIY LNEFHSAVGA YTFQASGQAL CRGWVDTIYN 
       760        770        780        790        800
AQNQLQQLRA QEPPGSQQPL QSLEEEEDEQ EEEEEEEEEE EEGEDSGTSA 
       810        820        830        840        850
ASSPTIMRKS SGSPDSQHCA SDGSTETLAM VVVEPGDTLS SPEFDSGPFS 
       860        870        880        890        900
SQSDETSLST TASSATPTSE LLPLGPVDGR SCSMDSAYGT LSPTSLQDFV 
       910        920        930        940        950
APGPMAELVP RAPESPRVPS PPPSPRLRRR TPVQLLSCPP HLLKSKSEAS 
       960        970        980        990       1000
LLQLLAGAGT HGTPSAPSRS LSELCLAVPA PGIRTQGSPQ EAGPSWDCRG 
      1010       1020       1030       1040       1050
APSPGSGPGL VGCLAGEPAG SHRKRCGDLP SGASPRVQPE PPPGVSAQHR 
      1060       1070 
KLTLAQLYRI RTTLLLNSTL TASEV

Note: No experimental confirmation available.Curated

Show »

Length:1,075

Mass (Da):118,479

Checksum:ⁱFEC80DA35C9023F7

GO

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

Q5SY18	Q5SY18_HUMAN	Pleckstrin homology domain-containi... Pleckstrin homology domain-containing family G member 5	PLEKHG5	852	Annotation score:
A0A1W2PPJ8	A0A1W2PPJ8_HUMAN	Pleckstrin homology domain-containi... Pleckstrin homology domain-containing family G member 5	PLEKHG5	70	Annotation score:

Sequence cautionⁱ

The sequence BAA34440 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

The sequence BAC77354 differs from that shown. Aberrant splicing.Curated

The sequence BAC85124 differs from that shown. Probable cloning artifact.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	162	P → L in BAH11909 (PubMed:14702039).Curated	1
Sequence conflictⁱ	294	T → S in BAA34440 (PubMed:9872452).Curated	1
Sequence conflictⁱ	570	M → T in BAG53269 (PubMed:14702039).Curated	1
Sequence conflictⁱ	637	E → G in BAC77354 (PubMed:12761501).Curated	1
Sequence conflictⁱ	778 – 779	Missing in BAC77354 (PubMed:12761501).Curated	2
Sequence conflictⁱ	960	E → G in BAG53269 (PubMed:14702039).Curated	1
Isoform 7 (identifier: O94827-7)
Sequence conflictⁱ	38	D → E in BAH13058 (PubMed:14702039).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_035357	703	F → 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_070217	719	T → 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_070218	876	G → 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 key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_036986	1 – 56	Missing in isoform 4 and isoform 5. 1 PublicationAdd BLAST	56
Alternative sequenceⁱVSP_045964	1 – 27	MDDQS…GRAAK → MGTGPGVSGRLAASRPGPGL PLRDSEPSWAGGRARDGDSQ in isoform 7. 1 PublicationAdd BLAST	27
Alternative sequenceⁱVSP_028583	1 – 19	Missing in isoform 3. 1 PublicationAdd BLAST	19
Alternative sequenceⁱVSP_044746	1 – 2	MD → MSLGERGSPQTFGGSSVSKG SDAGH in isoform 6. 1 Publication	2
Alternative sequenceⁱVSP_028584	1	M → MNSVLTKHGSPPRSWLSLCS GT in isoform 2. 1 Publication	1
Alternative sequenceⁱVSP_036987	969 – 986	GIRTQ…SWDCR → AQEADPGPALPNQDHPAA in isoform 4. 1 PublicationAdd BLAST	18
Alternative sequenceⁱVSP_036988	987 – 1062	Missing in isoform 4. 1 PublicationAdd BLAST	76

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.
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]
UniGeneⁱ	Hs.284232 Hs.462529 Hs.619982

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
UCSC genome browser More...UCSCⁱ	uc001ank.1 human [O94827-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
O94827	Uncharacterized protein		MACMU		1155	UniRef90_O94827
Uncharacterized protein		MACFA		1154
Isoform 6 of Pleckstrin homology domain-containing family G member 5		HUMAN		1085
Pleckstrin homology and RhoGEF domain containing G5		SAIBB		1085
PLEKHG5 isoform 6		PANTR		1084
+154
O94827-4	Pleckstrin homology and RhoGEF domain containing G5		SAIBB		1083	UniRef90_O94827-4
PLEKHG5 isoform 10		PANTR		929
Uncharacterized protein		CERAT		873
Uncharacterized protein		RHIBE		870
UPI0008402ED7		CALJA		1073

Protein	Similar proteins		Species	Score	Length	Source
O94827	Pleckstrin homology domain-containing family G member 5		MOUSE		1073	UniRef50_O94827
Pleckstrin homology domain-containing family G member 5		RAT		1039
Uncharacterized protein		MACMU		1155
Uncharacterized protein		MACFA		1154
Pleckstrin homology and RhoGEF domain containing G5		SAIBB		1085
+457

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.
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
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	121522, 16 interactors
IntActⁱ	O94827, 3 interactors
STRINGⁱ	9606.ENSP00000366977

PTM databases

iPTMnetⁱ	O94827
PhosphoSitePlusⁱ	O94827

Polymorphism and mutation databases

BioMutaⁱ	PLEKHG5

BioMutaⁱ

PLEKHG5

Proteomic databases

EPDⁱ	O94827
PaxDbⁱ	O94827
PeptideAtlasⁱ	O94827
PRIDEⁱ	O94827
ProteomicsDBⁱ	50469 50470 [O94827-2] 50471 [O94827-3] 50472 [O94827-4] 50473 [O94827-5]

Protocols and materials databases

Structural Biology Knowledgebase	Search...

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	uc001ank.1 human [O94827-1]

Organism-specific databases

CTDⁱ	57449
DisGeNETⁱ	57449
EuPathDBⁱ	HostDB:ENSG00000171680.20
GeneCardsⁱ	PLEKHG5
HGNCⁱ	HGNC:29105 PLEKHG5
HPAⁱ	HPA049570
MalaCardsⁱ	PLEKHG5
MIMⁱ	611067 phenotype 611101 gene 615376 phenotype
neXtProtⁱ	NX_O94827
OpenTargetsⁱ	ENSG00000171680
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...
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3521 Eukaryota ENOG410XRPT LUCA
GeneTreeⁱ	ENSGT00510000046843
HOGENOMⁱ	HOG000049145
HOVERGENⁱ	HBG058106
InParanoidⁱ	O94827
KOⁱ	K19464
OMAⁱ	GISAQHR
OrthoDBⁱ	EOG091G00RK
PhylomeDBⁱ	O94827
TreeFamⁱ	TF316755

Enzyme and pathway databases

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

Reactomeⁱ

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

Miscellaneous databases

GeneWikiⁱ	PLEKHG5
GenomeRNAiⁱ	57449
Protein Ontology More...PROⁱ	PR:O94827
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000171680 Expressed in 123 organ(s), highest expression level in right hemisphere of cerebellum
CleanExⁱ	HS_PLEKHG5
ExpressionAtlasⁱ	O94827 baseline and differential
Genevisibleⁱ	O94827 HS

Family and domain databases

CDDⁱ	cd00160 RhoGEF, 1 hit
Gene3Dⁱ	1.20.900.10, 1 hit 2.30.29.30, 1 hit
InterProⁱ	View protein in InterPro IPR035899 DBL_dom_sf IPR000219 DH-domain IPR011993 PH-like_dom_sf IPR001849 PH_domain IPR029071 Ubiquitin-like_domsf
Pfamⁱ	View protein in Pfam PF00621 RhoGEF, 1 hit
SMARTⁱ	View protein in SMART SM00233 PH, 1 hit SM00325 RhoGEF, 1 hit
SUPFAMⁱ	SSF48065 SSF48065, 1 hit SSF54236 SSF54236, 1 hit
PROSITEⁱ	View protein in PROSITE PS50010 DH_2, 1 hit PS50003 PH_DOMAIN, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	PKHG5_HUMAN
Accessionⁱ	O94827Primary (citable) accession number: O94827 Secondary accession number(s): B3KU07 Q96BS1
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	October 23, 2007
	Last sequence update:	October 23, 2007
	Last modified:	November 7, 2018
	This is version 150 of the entry and version 3 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

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

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UniProtKB - O94827 (PKHG5_HUMAN)

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Pleckstrin homology domain-containing family G member 5

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<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

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GO - Biological processi

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<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

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Plasma Membrane

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<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

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Organism-specific databases

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<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

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Keywords - PTMi

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<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

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<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

<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

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<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

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Keywords - Coding sequence diversityi

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<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 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

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ