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O94827 (PKHG5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 111. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:PLEKHG5
Synonyms:KIAA0720
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1062 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.6 Ref.8

Subunit structure

Interacts with GIPC1/synectin and RHOA By similarity.

Subcellular location

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.

Tissue specificity

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. Ref.1 Ref.8 Ref.9

Involvement in disease

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. Ref.11

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. Ref.10 Ref.12

Sequence similarities

Contains 1 DH (DBL-homology) domain.

Contains 1 PH domain.

Sequence caution

The sequence BAA34440.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence BAC77354.1 differs from that shown. Reason: Aberrant splicing.

The sequence BAC85124.1 differs from that shown. Reason: Probable cloning artifact.

Ontologies

Keywords
   Cellular componentCell junction
Cell projection
Cytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseCharcot-Marie-Tooth disease
Disease mutation
Neurodegeneration
Neuropathy
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processapoptotic signaling pathway

Traceable author statement. Source: Reactome

endothelial cell chemotaxis

Inferred from sequence or structural similarity. Source: UniProtKB

neurotrophin TRK receptor signaling pathway

Traceable author statement. Source: Reactome

positive regulation of I-kappaB kinase/NF-kappaB signaling

Inferred from mutant phenotype Ref.6. Source: UniProtKB

positive regulation of apoptotic process

Traceable author statement. Source: Reactome

regulation of small GTPase mediated signal transduction

Traceable author statement. Source: Reactome

small GTPase mediated signal transduction

Traceable author statement. Source: Reactome

   Cellular_componentcell-cell junction

Inferred from sequence or structural similarity. Source: UniProtKB

cytoplasm

Inferred from sequence or structural similarity. Source: UniProtKB

cytosol

Traceable author statement. Source: Reactome

endocytic vesicle

Inferred from sequence or structural similarity. Source: UniProtKB

lamellipodium

Inferred from sequence or structural similarity. Source: UniProtKB

perinuclear region of cytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

plasma membrane

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionRho guanyl-nucleotide exchange factor activity

Inferred from electronic annotation. Source: Ensembl

signal transducer activity

Inferred from mutant phenotype Ref.6. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 7 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O94827-1)

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.
Isoform 2 (identifier: O94827-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MNSVLTKHGSPPRSWLSLCSGT
Note: No experimental confirmation available.
Isoform 3 (identifier: O94827-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-19: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: O94827-4)

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.
Isoform 5 (identifier: O94827-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-56: Missing.
Note: No experimental confirmation available.
Isoform 6 (identifier: O94827-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-2: MD → MSLGERGSPQTFGGSSVSKGSDAGH
Note: No experimental confirmation available.
Isoform 7 (identifier: O94827-7)

The sequence of this isoform differs from the canonical sequence as follows:
     1-27: MDDQSPAEKKGLRCQNPACMDKGRAAK → MGTGPGVSGRLAASRPGPGLPLRDSEPSWAGGRARDGDSQ
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10621062Pleckstrin homology domain-containing family G member 5
PRO_0000307134

Regions

Domain392 – 584193DH
Domain640 – 740101PH
Compositional bias94 – 996Poly-Glu
Compositional bias761 – 78121Glu-rich

Amino acid modifications

Modified residue9371Phosphoserine By similarity

Natural variations

Alternative sequence1 – 5656Missing in isoform 4 and isoform 5.
VSP_036986
Alternative sequence1 – 2727MDDQS…GRAAK → MGTGPGVSGRLAASRPGPGL PLRDSEPSWAGGRARDGDSQ in isoform 7.
VSP_045964
Alternative sequence1 – 1919Missing in isoform 3.
VSP_028583
Alternative sequence1 – 22MD → MSLGERGSPQTFGGSSVSKG SDAGH in isoform 6.
VSP_044746
Alternative sequence11M → MNSVLTKHGSPPRSWLSLCS GT in isoform 2.
VSP_028584
Alternative sequence969 – 98618GIRTQ…SWDCR → AQEADPGPALPNQDHPAA in isoform 4.
VSP_036987
Alternative sequence987 – 106276Missing in isoform 4.
VSP_036988
Natural variant7031F → S in DSMA4; stability and intracellular location affected severely impairing the NF-kappa-B transduction pathway. Ref.11
VAR_035357
Natural variant7191T → M in CMTRIC; in vitro assay suggests a defect in activating the NF-kappa-B signaling pathway. Ref.12
VAR_070217
Natural variant8761G → R in CMTRIC; in vitro assay suggests a defect in activating the NF-kappa-B signaling pathway. Ref.12
VAR_070218

Experimental info

Sequence conflict1621P → L in BAH11909. Ref.2
Sequence conflict2941T → S in BAA34440. Ref.1
Sequence conflict5701M → T in BAG53269. Ref.2
Sequence conflict6371E → G in BAC77354. Ref.6
Sequence conflict778 – 7792Missing in BAC77354. Ref.6
Sequence conflict9601E → G in BAG53269. Ref.2
Isoform 7:
Sequence conflict381D → E in BAH13058. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 23, 2007. Version 3.
Checksum: 20746D577B67B23F

FASTA1,062117,451
        10         20         30         40         50         60 
MDDQSPAEKK GLRCQNPACM DKGRAAKVCH HADCQQLHRR GPLNLCEACD SKFHSTMHYD 

        70         80         90        100        110        120 
GHVRFDLPPQ GSVLARNVST RSCPPRTSPA VDLEEEEEES SVDGKGDRKS TGLKLSKKKA 

       130        140        150        160        170        180 
RRRHTDDPSK ECFTLKFDLN VDIETEIVPA MKKKSLGEVL LPVFERKGIA LGKVDIYLDQ 

       190        200        210        220        230        240 
SNTPLSLTFE AYRFGGHYLR VKAPAKPGDE GKVEQGMKDS KSLSLPILRP AGTGPPALER 

       250        260        270        280        290        300 
VDAQSRRESL DILAPGRRRK NMSEFLGEAS IPGQEPPTPS SCSLPSGSSG STNTGDSWKN 

       310        320        330        340        350        360 
RAASRFSGFF SSGPSTSAFG REVDKMEQLE GKLHTYSLFG LPRLPRGLRF DHDSWEEEYD 

       370        380        390        400        410        420 
EDEDEDNACL RLEDSWRELI DGHEKLTRRQ CHQQEAVWEL LHTEASYIRK LRVIINLFLC 

       430        440        450        460        470        480 
CLLNLQESGL LCEVEAERLF SNIPEIAQLH RRLWASVMAP VLEKARRTRA LLQPGDFLKG 

       490        500        510        520        530        540 
FKMFGSLFKP YIRYCMEEEG CMEYMRGLLR DNDLFRAYIT WAEKHPQCQR LKLSDMLAKP 

       550        560        570        580        590        600 
HQRLTKYPLL LKSVLRKTEE PRAKEAVVAM IGSVERFIHH VNACMRQRQE RQRLAAVVSR 

       610        620        630        640        650        660 
IDAYEVVESS SDEVDKLLKE FLHLDLTAPI PGASPEETRQ LLLEGSLRMK EGKDSKMDVY 

       670        680        690        700        710        720 
CFLFTDLLLV TKAVKKAERT RVIRPPLLVD KIVCRELRDP GSFLLIYLNE FHSAVGAYTF 

       730        740        750        760        770        780 
QASGQALCRG WVDTIYNAQN QLQQLRAQEP PGSQQPLQSL EEEEDEQEEE EEEEEEEEEG 

       790        800        810        820        830        840 
EDSGTSAASS PTIMRKSSGS PDSQHCASDG STETLAMVVV EPGDTLSSPE FDSGPFSSQS 

       850        860        870        880        890        900 
DETSLSTTAS SATPTSELLP LGPVDGRSCS MDSAYGTLSP TSLQDFVAPG PMAELVPRAP 

       910        920        930        940        950        960 
ESPRVPSPPP SPRLRRRTPV QLLSCPPHLL KSKSEASLLQ LLAGAGTHGT PSAPSRSLSE 

       970        980        990       1000       1010       1020 
LCLAVPAPGI RTQGSPQEAG PSWDCRGAPS PGSGPGLVGC LAGEPAGSHR KRCGDLPSGA 

      1030       1040       1050       1060 
SPRVQPEPPP GVSAQHRKLT LAQLYRIRTT LLLNSTLTAS EV 

« Hide

Isoform 2 [UniParc].

Checksum: 180C84118EB41D57
Show »

FASTA1,083119,660
Isoform 3 [UniParc].

Checksum: 561BF06557096D6C
Show »

FASTA1,043115,378
Isoform 4 [UniParc].

Checksum: 8938A81803D1B6FD
Show »

FASTA930103,364
Isoform 5 [UniParc].

Checksum: 2260D175D3C27D76
Show »

FASTA1,006111,231
Isoform 6 [UniParc].

Checksum: F4199F780D2F945A
Show »

FASTA1,085119,623
Isoform 7 [UniParc].

Checksum: FEC80DA35C9023F7
Show »

FASTA1,075118,479

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease."
Azzedine H., Zavadakova P., Plante-Bordeneuve V., Vaz Pato M., Pinto N., Bartesaghi L., Zenker J., Poirot O., Bernard-Marissal N., Arnaud Gouttenoire E., Cartoni R., Title A., Venturini G., Medard J.J., Makowski E., Schoels L., Claeys K.G., Stendel C. expand/collapse author list , Roos A., Weis J., Dubourg O., Leal Loureiro J., Stevanin G., Said G., Amato A., Baraban J., Leguern E., Senderek J., Rivolta C., Chrast R.
Hum. Mol. Genet. 22:4224-4232(2013) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS41240.1. [O94827-2]
CCDS41241.1. [O94827-1]
CCDS57967.1. [O94827-4]
CCDS57968.1. [O94827-7]
CCDS57969.1. [O94827-6]
CCDS79.1. [O94827-5]
RefSeqNP_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]
UniGeneHs.284232.
Hs.462529.
Hs.619982.

3D structure databases

ProteinModelPortalO94827.
SMRO94827. Positions 336-738.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121522. 5 interactions.
IntActO94827. 2 interactions.

PTM databases

PhosphoSiteO94827.

Proteomic databases

PaxDbO94827.
PRIDEO94827.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000340850; 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]
GeneID57449.
KEGGhsa:57449.
UCSCuc001anj.1. human. [O94827-1]
uc001anp.2. human. [O94827-2]
uc009vmb.2. human. [O94827-4]

Organism-specific databases

CTD57449.
GeneCardsGC01M006526.
HGNCHGNC:29105. PLEKHG5.
HPAHPA049570.
MIM611067. phenotype.
611101. gene.
615376. phenotype.
neXtProtNX_O94827.
Orphanet369867. Autosomal recessive intermediate Charcot-Marie-Tooth disease type C.
206580. Autosomal recessive lower motor neuron disease with childhood onset.
PharmGKBPA142671164.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG293366.
HOVERGENHBG058106.
OMAGISAQHR.
OrthoDBEOG73BVDB.
PhylomeDBO94827.
TreeFamTF316755.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.

Gene expression databases

ArrayExpressO94827.
BgeeO94827.
CleanExHS_PLEKHG5.
GenevestigatorO94827.

Family and domain databases

Gene3D1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProIPR000219. DH-domain.
IPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
IPR029071. Ubiquitin-rel_dom.
[Graphical view]
PfamPF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTSM00233. PH. 1 hit.
SM00325. RhoGEF. 1 hit.
[Graphical view]
SUPFAMSSF48065. SSF48065. 1 hit.
SSF54236. SSF54236. 1 hit.
PROSITEPS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPLEKHG5.
GenomeRNAi57449.
NextBio63598.
PROO94827.
SOURCESearch...

Entry information

Entry namePKHG5_HUMAN
AccessionPrimary (citable) accession number: O94827
Secondary accession number(s): B3KU07 expand/collapse secondary AC list , B7Z2M3, B7Z5X2, F5GZ21, F5H1I0, Q5SY17, Q5T8W5, Q5T8W9, Q6ZNM0, Q7Z436, Q86YD8, Q96BS1
Entry history
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: October 23, 2007
Last modified: July 9, 2014
This is version 111 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM