O94827 (PKHG5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	PLEKHG5
Synonyms:	KIAA0720

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1062 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Activates the NF-kappa-B signaling pathway and RHOA. Appears to be involved in the control of neuronal cell differentiation. Ref.6 Ref.8
Subunit structure	Interacts with GIPC1/synectin and RHOA By similarity.
Subcellular location	Cytoplasm. Cytoplasm › perinuclear region. Note: Predominantly cytoplasmic, however when cells are stimulated found in perinuclear regions 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.10
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. 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 component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Neurodegeneration
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	apoptotic process Traceable author statement. Source: Reactome endothelial cell migration Inferred from electronic annotation. Source: Compara nerve growth factor receptor signaling pathway Traceable author statement. Source: Reactome positive regulation of I-kappaB kinase/NF-kappaB cascade Inferred from mutant phenotype Ref.6. Source: UniProtKB regulation of Rho protein signal transduction Inferred from electronic annotation. Source: InterPro regulation of small GTPase mediated signal transduction Traceable author statement. Source: Reactome small GTPase mediated signal transduction Traceable author statement. Source: Reactome
Cellular_component	cytosol Traceable author statement. Source: Reactome perinuclear region of cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell plasma membrane Inferred from electronic annotation. Source: Compara
Molecular_function	Rho guanyl-nucleotide exchange factor activity Inferred from electronic annotation. Source: Compara phospholipid binding Inferred from electronic annotation. Source: InterPro 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1062	1062	Pleckstrin homology domain-containing family G member 5		PRO_0000307134
Regions
	Domain	392 – 584	193	DH
	Domain	640 – 740	101	PH
	Compositional bias	94 – 99	6	Poly-Glu
	Compositional bias	761 – 781	21	Glu-rich
Amino acid modifications
	Modified residue	932	1	Phosphoserine By similarity
	Modified residue	934	1	Phosphoserine By similarity
	Modified residue	959	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1 – 56	56	Missing in isoform 4 and isoform 5.		VSP_036986
	Alternative sequence	1 – 27	27	MDDQS…GRAAK → MGTGPGVSGRLAASRPGPGL PLRDSEPSWAGGRARDGDSQ in isoform 7.		VSP_045964
	Alternative sequence	1 – 19	19	Missing in isoform 3.		VSP_028583
	Alternative sequence	1 – 2	2	MD → MSLGERGSPQTFGGSSVSKG SDAGH in isoform 6.		VSP_044746
	Alternative sequence	1	1	M → MNSVLTKHGSPPRSWLSLCS GT in isoform 2.		VSP_028584
	Alternative sequence	969 – 986	18	GIRTQ…SWDCR → AQEADPGPALPNQDHPAA in isoform 4.		VSP_036987
	Alternative sequence	987 – 1062	76	Missing in isoform 4.		VSP_036988
	Natural variant	703	1	F → S in DSMA4; stability and intracellular location affected severely impairing the NF-kappa-B transduction pathway. Ref.10		VAR_035357
Experimental info
	Sequence conflict	162	1	P → L in BAH11909. Ref.2
	Sequence conflict	294	1	T → S in BAA34440. Ref.1
	Sequence conflict	570	1	M → T in BAG53269. Ref.2
	Sequence conflict	637	1	E → G in BAC77354. Ref.6
	Sequence conflict	778 – 779	2	Missing in BAC77354. Ref.6
	Sequence conflict	960	1	E → G in BAG53269. Ref.2
Isoform 7:
	Sequence conflict	38	1	D → E in BAH13058. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 23, 2007. Version 3. Checksum: 20746D577B67B23F	FASTA	1,062	117,451
	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
	Isoform 2 [UniParc]. Checksum: 180C84118EB41D57	FASTA	1,083	119,660
	10 20 30 40 50 60 MNSVLTKHGS PPRSWLSLCS GTDDQSPAEK KGLRCQNPAC MDKGRAAKVC HHADCQQLHR 70 80 90 100 110 120 RGPLNLCEAC DSKFHSTMHY DGHVRFDLPP QGSVLARNVS TRSCPPRTSP AVDLEEEEEE 130 140 150 160 170 180 SSVDGKGDRK STGLKLSKKK ARRRHTDDPS KECFTLKFDL NVDIETEIVP AMKKKSLGEV 190 200 210 220 230 240 LLPVFERKGI ALGKVDIYLD QSNTPLSLTF EAYRFGGHYL RVKAPAKPGD EGKVEQGMKD 250 260 270 280 290 300 SKSLSLPILR PAGTGPPALE RVDAQSRRES LDILAPGRRR KNMSEFLGEA SIPGQEPPTP 310 320 330 340 350 360 SSCSLPSGSS GSTNTGDSWK NRAASRFSGF FSSGPSTSAF GREVDKMEQL EGKLHTYSLF 370 380 390 400 410 420 GLPRLPRGLR FDHDSWEEEY DEDEDEDNAC LRLEDSWREL IDGHEKLTRR QCHQQEAVWE 430 440 450 460 470 480 LLHTEASYIR KLRVIINLFL CCLLNLQESG LLCEVEAERL FSNIPEIAQL HRRLWASVMA 490 500 510 520 530 540 PVLEKARRTR ALLQPGDFLK GFKMFGSLFK PYIRYCMEEE GCMEYMRGLL RDNDLFRAYI 550 560 570 580 590 600 TWAEKHPQCQ RLKLSDMLAK PHQRLTKYPL LLKSVLRKTE EPRAKEAVVA MIGSVERFIH 610 620 630 640 650 660 HVNACMRQRQ ERQRLAAVVS RIDAYEVVES SSDEVDKLLK EFLHLDLTAP IPGASPEETR 670 680 690 700 710 720 QLLLEGSLRM KEGKDSKMDV YCFLFTDLLL VTKAVKKAER TRVIRPPLLV DKIVCRELRD 730 740 750 760 770 780 PGSFLLIYLN EFHSAVGAYT FQASGQALCR GWVDTIYNAQ NQLQQLRAQE PPGSQQPLQS 790 800 810 820 830 840 LEEEEDEQEE EEEEEEEEEE GEDSGTSAAS SPTIMRKSSG SPDSQHCASD GSTETLAMVV 850 860 870 880 890 900 VEPGDTLSSP EFDSGPFSSQ SDETSLSTTA SSATPTSELL PLGPVDGRSC SMDSAYGTLS 910 920 930 940 950 960 PTSLQDFVAP GPMAELVPRA PESPRVPSPP PSPRLRRRTP VQLLSCPPHL LKSKSEASLL 970 980 990 1000 1010 1020 QLLAGAGTHG TPSAPSRSLS ELCLAVPAPG IRTQGSPQEA GPSWDCRGAP SPGSGPGLVG 1030 1040 1050 1060 1070 1080 CLAGEPAGSH RKRCGDLPSG ASPRVQPEPP PGVSAQHRKL TLAQLYRIRT TLLLNSTLTA SEV
	Isoform 3 [UniParc]. Checksum: 561BF06557096D6C	FASTA	1,043	115,378
	10 20 30 40 50 60 MDKGRAAKVC HHADCQQLHR RGPLNLCEAC DSKFHSTMHY DGHVRFDLPP QGSVLARNVS 70 80 90 100 110 120 TRSCPPRTSP AVDLEEEEEE SSVDGKGDRK STGLKLSKKK ARRRHTDDPS KECFTLKFDL 130 140 150 160 170 180 NVDIETEIVP AMKKKSLGEV LLPVFERKGI ALGKVDIYLD QSNTPLSLTF EAYRFGGHYL 190 200 210 220 230 240 RVKAPAKPGD EGKVEQGMKD SKSLSLPILR PAGTGPPALE RVDAQSRRES LDILAPGRRR 250 260 270 280 290 300 KNMSEFLGEA SIPGQEPPTP SSCSLPSGSS GSTNTGDSWK NRAASRFSGF FSSGPSTSAF 310 320 330 340 350 360 GREVDKMEQL EGKLHTYSLF GLPRLPRGLR FDHDSWEEEY DEDEDEDNAC LRLEDSWREL 370 380 390 400 410 420 IDGHEKLTRR QCHQQEAVWE LLHTEASYIR KLRVIINLFL CCLLNLQESG LLCEVEAERL 430 440 450 460 470 480 FSNIPEIAQL HRRLWASVMA PVLEKARRTR ALLQPGDFLK GFKMFGSLFK PYIRYCMEEE 490 500 510 520 530 540 GCMEYMRGLL RDNDLFRAYI TWAEKHPQCQ RLKLSDMLAK PHQRLTKYPL LLKSVLRKTE 550 560 570 580 590 600 EPRAKEAVVA MIGSVERFIH HVNACMRQRQ ERQRLAAVVS RIDAYEVVES SSDEVDKLLK 610 620 630 640 650 660 EFLHLDLTAP IPGASPEETR QLLLEGSLRM KEGKDSKMDV YCFLFTDLLL VTKAVKKAER 670 680 690 700 710 720 TRVIRPPLLV DKIVCRELRD PGSFLLIYLN EFHSAVGAYT FQASGQALCR GWVDTIYNAQ 730 740 750 760 770 780 NQLQQLRAQE PPGSQQPLQS LEEEEDEQEE EEEEEEEEEE GEDSGTSAAS SPTIMRKSSG 790 800 810 820 830 840 SPDSQHCASD GSTETLAMVV VEPGDTLSSP EFDSGPFSSQ SDETSLSTTA SSATPTSELL 850 860 870 880 890 900 PLGPVDGRSC SMDSAYGTLS PTSLQDFVAP GPMAELVPRA PESPRVPSPP PSPRLRRRTP 910 920 930 940 950 960 VQLLSCPPHL LKSKSEASLL QLLAGAGTHG TPSAPSRSLS ELCLAVPAPG IRTQGSPQEA 970 980 990 1000 1010 1020 GPSWDCRGAP SPGSGPGLVG CLAGEPAGSH RKRCGDLPSG ASPRVQPEPP PGVSAQHRKL 1030 1040 TLAQLYRIRT TLLLNSTLTA SEV
	Isoform 4 [UniParc]. Checksum: 8938A81803D1B6FD	FASTA	930	103,364
	10 20 30 40 50 60 MHYDGHVRFD LPPQGSVLAR NVSTRSCPPR TSPAVDLEEE EEESSVDGKG DRKSTGLKLS 70 80 90 100 110 120 KKKARRRHTD DPSKECFTLK FDLNVDIETE IVPAMKKKSL GEVLLPVFER KGIALGKVDI 130 140 150 160 170 180 YLDQSNTPLS LTFEAYRFGG HYLRVKAPAK PGDEGKVEQG MKDSKSLSLP ILRPAGTGPP 190 200 210 220 230 240 ALERVDAQSR RESLDILAPG RRRKNMSEFL GEASIPGQEP PTPSSCSLPS GSSGSTNTGD 250 260 270 280 290 300 SWKNRAASRF SGFFSSGPST SAFGREVDKM EQLEGKLHTY SLFGLPRLPR GLRFDHDSWE 310 320 330 340 350 360 EEYDEDEDED NACLRLEDSW RELIDGHEKL TRRQCHQQEA VWELLHTEAS YIRKLRVIIN 370 380 390 400 410 420 LFLCCLLNLQ ESGLLCEVEA ERLFSNIPEI AQLHRRLWAS VMAPVLEKAR RTRALLQPGD 430 440 450 460 470 480 FLKGFKMFGS LFKPYIRYCM EEEGCMEYMR GLLRDNDLFR AYITWAEKHP QCQRLKLSDM 490 500 510 520 530 540 LAKPHQRLTK YPLLLKSVLR KTEEPRAKEA VVAMIGSVER FIHHVNACMR QRQERQRLAA 550 560 570 580 590 600 VVSRIDAYEV VESSSDEVDK LLKEFLHLDL TAPIPGASPE ETRQLLLEGS LRMKEGKDSK 610 620 630 640 650 660 MDVYCFLFTD LLLVTKAVKK AERTRVIRPP LLVDKIVCRE LRDPGSFLLI YLNEFHSAVG 670 680 690 700 710 720 AYTFQASGQA LCRGWVDTIY NAQNQLQQLR AQEPPGSQQP LQSLEEEEDE QEEEEEEEEE 730 740 750 760 770 780 EEEGEDSGTS AASSPTIMRK SSGSPDSQHC ASDGSTETLA MVVVEPGDTL SSPEFDSGPF 790 800 810 820 830 840 SSQSDETSLS TTASSATPTS ELLPLGPVDG RSCSMDSAYG TLSPTSLQDF VAPGPMAELV 850 860 870 880 890 900 PRAPESPRVP SPPPSPRLRR RTPVQLLSCP PHLLKSKSEA SLLQLLAGAG THGTPSAPSR 910 920 930 SLSELCLAVP APAQEADPGP ALPNQDHPAA
	Isoform 5 [UniParc]. Checksum: 2260D175D3C27D76	FASTA	1,006	111,231
	10 20 30 40 50 60 MHYDGHVRFD LPPQGSVLAR NVSTRSCPPR TSPAVDLEEE EEESSVDGKG DRKSTGLKLS 70 80 90 100 110 120 KKKARRRHTD DPSKECFTLK FDLNVDIETE IVPAMKKKSL GEVLLPVFER KGIALGKVDI 130 140 150 160 170 180 YLDQSNTPLS LTFEAYRFGG HYLRVKAPAK PGDEGKVEQG MKDSKSLSLP ILRPAGTGPP 190 200 210 220 230 240 ALERVDAQSR RESLDILAPG RRRKNMSEFL GEASIPGQEP PTPSSCSLPS GSSGSTNTGD 250 260 270 280 290 300 SWKNRAASRF SGFFSSGPST SAFGREVDKM EQLEGKLHTY SLFGLPRLPR GLRFDHDSWE 310 320 330 340 350 360 EEYDEDEDED NACLRLEDSW RELIDGHEKL TRRQCHQQEA VWELLHTEAS YIRKLRVIIN 370 380 390 400 410 420 LFLCCLLNLQ ESGLLCEVEA ERLFSNIPEI AQLHRRLWAS VMAPVLEKAR RTRALLQPGD 430 440 450 460 470 480 FLKGFKMFGS LFKPYIRYCM EEEGCMEYMR GLLRDNDLFR AYITWAEKHP QCQRLKLSDM 490 500 510 520 530 540 LAKPHQRLTK YPLLLKSVLR KTEEPRAKEA VVAMIGSVER FIHHVNACMR QRQERQRLAA 550 560 570 580 590 600 VVSRIDAYEV VESSSDEVDK LLKEFLHLDL TAPIPGASPE ETRQLLLEGS LRMKEGKDSK 610 620 630 640 650 660 MDVYCFLFTD LLLVTKAVKK AERTRVIRPP LLVDKIVCRE LRDPGSFLLI YLNEFHSAVG 670 680 690 700 710 720 AYTFQASGQA LCRGWVDTIY NAQNQLQQLR AQEPPGSQQP LQSLEEEEDE QEEEEEEEEE 730 740 750 760 770 780 EEEGEDSGTS AASSPTIMRK SSGSPDSQHC ASDGSTETLA MVVVEPGDTL SSPEFDSGPF 790 800 810 820 830 840 SSQSDETSLS TTASSATPTS ELLPLGPVDG RSCSMDSAYG TLSPTSLQDF VAPGPMAELV 850 860 870 880 890 900 PRAPESPRVP SPPPSPRLRR RTPVQLLSCP PHLLKSKSEA SLLQLLAGAG THGTPSAPSR 910 920 930 940 950 960 SLSELCLAVP APGIRTQGSP QEAGPSWDCR GAPSPGSGPG LVGCLAGEPA GSHRKRCGDL 970 980 990 1000 PSGASPRVQP EPPPGVSAQH RKLTLAQLYR IRTTLLLNST LTASEV
	Isoform 6 [UniParc]. Checksum: F4199F780D2F945A	FASTA	1,085	119,623
	10 20 30 40 50 60 MSLGERGSPQ TFGGSSVSKG SDAGHDQSPA EKKGLRCQNP ACMDKGRAAK VCHHADCQQL 70 80 90 100 110 120 HRRGPLNLCE ACDSKFHSTM HYDGHVRFDL PPQGSVLARN VSTRSCPPRT SPAVDLEEEE 130 140 150 160 170 180 EESSVDGKGD RKSTGLKLSK KKARRRHTDD PSKECFTLKF DLNVDIETEI VPAMKKKSLG 190 200 210 220 230 240 EVLLPVFERK GIALGKVDIY LDQSNTPLSL TFEAYRFGGH YLRVKAPAKP GDEGKVEQGM 250 260 270 280 290 300 KDSKSLSLPI LRPAGTGPPA LERVDAQSRR ESLDILAPGR RRKNMSEFLG EASIPGQEPP 310 320 330 340 350 360 TPSSCSLPSG SSGSTNTGDS WKNRAASRFS GFFSSGPSTS AFGREVDKME QLEGKLHTYS 370 380 390 400 410 420 LFGLPRLPRG LRFDHDSWEE EYDEDEDEDN ACLRLEDSWR ELIDGHEKLT RRQCHQQEAV 430 440 450 460 470 480 WELLHTEASY IRKLRVIINL FLCCLLNLQE SGLLCEVEAE RLFSNIPEIA QLHRRLWASV 490 500 510 520 530 540 MAPVLEKARR TRALLQPGDF LKGFKMFGSL FKPYIRYCME EEGCMEYMRG LLRDNDLFRA 550 560 570 580 590 600 YITWAEKHPQ CQRLKLSDML AKPHQRLTKY PLLLKSVLRK TEEPRAKEAV VAMIGSVERF 610 620 630 640 650 660 IHHVNACMRQ RQERQRLAAV VSRIDAYEVV ESSSDEVDKL LKEFLHLDLT APIPGASPEE 670 680 690 700 710 720 TRQLLLEGSL RMKEGKDSKM DVYCFLFTDL LLVTKAVKKA ERTRVIRPPL LVDKIVCREL 730 740 750 760 770 780 RDPGSFLLIY LNEFHSAVGA YTFQASGQAL CRGWVDTIYN AQNQLQQLRA QEPPGSQQPL 790 800 810 820 830 840 QSLEEEEDEQ EEEEEEEEEE EEGEDSGTSA ASSPTIMRKS SGSPDSQHCA SDGSTETLAM 850 860 870 880 890 900 VVVEPGDTLS SPEFDSGPFS SQSDETSLST TASSATPTSE LLPLGPVDGR SCSMDSAYGT 910 920 930 940 950 960 LSPTSLQDFV APGPMAELVP RAPESPRVPS PPPSPRLRRR TPVQLLSCPP HLLKSKSEAS 970 980 990 1000 1010 1020 LLQLLAGAGT HGTPSAPSRS LSELCLAVPA PGIRTQGSPQ EAGPSWDCRG APSPGSGPGL 1030 1040 1050 1060 1070 1080 VGCLAGEPAG SHRKRCGDLP SGASPRVQPE PPPGVSAQHR KLTLAQLYRI RTTLLLNSTL TASEV
	Isoform 7 [UniParc]. Checksum: FEC80DA35C9023F7	FASTA	1,075	118,479
	10 20 30 40 50 60 MGTGPGVSGR LAASRPGPGL PLRDSEPSWA GGRARDGDSQ VCHHADCQQL HRRGPLNLCE 70 80 90 100 110 120 ACDSKFHSTM HYDGHVRFDL PPQGSVLARN VSTRSCPPRT SPAVDLEEEE EESSVDGKGD 130 140 150 160 170 180 RKSTGLKLSK KKARRRHTDD PSKECFTLKF DLNVDIETEI VPAMKKKSLG EVLLPVFERK 190 200 210 220 230 240 GIALGKVDIY LDQSNTPLSL TFEAYRFGGH YLRVKAPAKP GDEGKVEQGM KDSKSLSLPI 250 260 270 280 290 300 LRPAGTGPPA LERVDAQSRR ESLDILAPGR RRKNMSEFLG EASIPGQEPP TPSSCSLPSG 310 320 330 340 350 360 SSGSTNTGDS WKNRAASRFS GFFSSGPSTS AFGREVDKME QLEGKLHTYS LFGLPRLPRG 370 380 390 400 410 420 LRFDHDSWEE EYDEDEDEDN ACLRLEDSWR ELIDGHEKLT RRQCHQQEAV WELLHTEASY 430 440 450 460 470 480 IRKLRVIINL FLCCLLNLQE SGLLCEVEAE RLFSNIPEIA QLHRRLWASV MAPVLEKARR 490 500 510 520 530 540 TRALLQPGDF LKGFKMFGSL FKPYIRYCME EEGCMEYMRG LLRDNDLFRA YITWAEKHPQ 550 560 570 580 590 600 CQRLKLSDML AKPHQRLTKY PLLLKSVLRK TEEPRAKEAV VAMIGSVERF IHHVNACMRQ 610 620 630 640 650 660 RQERQRLAAV VSRIDAYEVV ESSSDEVDKL LKEFLHLDLT APIPGASPEE TRQLLLEGSL 670 680 690 700 710 720 RMKEGKDSKM DVYCFLFTDL LLVTKAVKKA ERTRVIRPPL LVDKIVCREL RDPGSFLLIY 730 740 750 760 770 780 LNEFHSAVGA YTFQASGQAL CRGWVDTIYN AQNQLQQLRA QEPPGSQQPL QSLEEEEDEQ 790 800 810 820 830 840 EEEEEEEEEE EEGEDSGTSA ASSPTIMRKS SGSPDSQHCA SDGSTETLAM VVVEPGDTLS 850 860 870 880 890 900 SPEFDSGPFS SQSDETSLST TASSATPTSE LLPLGPVDGR SCSMDSAYGT LSPTSLQDFV 910 920 930 940 950 960 APGPMAELVP RAPESPRVPS PPPSPRLRRR TPVQLLSCPP HLLKSKSEAS LLQLLAGAGT 970 980 990 1000 1010 1020 HGTPSAPSRS LSELCLAVPA PGIRTQGSPQ EAGPSWDCRG APSPGSGPGL VGCLAGEPAG 1030 1040 1050 1060 1070 SHRKRCGDLP SGASPRVQPE PPPGVSAQHR KLTLAQLYRI RTTLLLNSTL TASEV

References

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[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]	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. , 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. 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]	"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.
+	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.
IPI	IPI00394793. IPI00640076. IPI00642291. IPI00868983. IPI00872583. IPI01010210. IPI01012377.
RefSeq	NP_001036128.1. NM_001042663.1. NP_001036129.1. NM_001042664.1. NP_001036130.1. NM_001042665.1. NP_001252521.1. NM_001265592.1. NP_001252522.1. NM_001265593.1. NP_001252523.1. NM_001265594.1. NP_065682.2. NM_020631.4. NP_941374.2. NM_198681.3.
UniGene	Hs.284232. Hs.462529. Hs.619982.
3D structure databases
HSSP	HSSP built from PDB template 1XCG based on UniProtKB O15085.
ProteinModelPortal	O94827.
ModBase	Search...
Protein-protein interaction databases
IntAct	O94827. 2 interactions.
PTM databases
PhosphoSite	O94827.
Proteomic databases
PaxDb	O94827.
PRIDE	O94827.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000340850; ENSP00000344570; ENSG00000171680. ENST00000377725; ENSP00000366954; ENSG00000171680. ENST00000377728; ENSP00000366957; ENSG00000171680. ENST00000377732; ENSP00000366961; ENSG00000171680. ENST00000377737; ENSP00000366966; ENSG00000171680. ENST00000377748; ENSP00000366977; ENSG00000171680. ENST00000400913; ENSP00000383704; ENSG00000171680. ENST00000400915; ENSP00000383706; ENSG00000171680. ENST00000535355; ENSP00000441445; ENSG00000171680. ENST00000537245; ENSP00000439625; ENSG00000171680. ENST00000544978; ENSP00000437710; ENSG00000171680.
GeneID	57449.
KEGG	hsa:57449.
UCSC	uc001anj.1. human. uc001anp.1. human. uc009vmb.1. human.
Organism-specific databases
CTD	57449.
GeneCards	GC01M006526.
HGNC	HGNC:29105. PLEKHG5.
HPA	HPA049570.
MIM	611067. phenotype. 611101. gene.
neXtProt	NX_O94827.
Orphanet	206580. Autosomal recessive lower motor neuron disease with childhood onset.
PharmGKB	PA142671164.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG293366.
HOVERGEN	HBG058106.
OMA	CMEYMRG.
Enzyme and pathway databases
Reactome	REACT_111102. Signal Transduction.
Gene expression databases
ArrayExpress	O94827.
Bgee	O94827.
CleanEx	HS_PLEKHG5.
Genevestigator	O94827.
Family and domain databases
Gene3D	1.20.900.10. 1 hit. 2.30.29.30. 1 hit.
InterPro	IPR000219. DH-domain. IPR011993. PH_like_dom. IPR001849. Pleckstrin_homology. [Graphical view]
Pfam	PF00621. RhoGEF. 1 hit. [Graphical view]
SMART	SM00233. PH. 1 hit. SM00325. RhoGEF. 1 hit. [Graphical view]
SUPFAM	SSF48065. DH-domain. 1 hit.
PROSITE	PS00741. DH_1. False negative. PS50010. DH_2. 1 hit. PS50003. PH_DOMAIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	57449.
NextBio	63598.
SOURCE	Search...

Entry information

Entry name

PKHG5_HUMAN

Accession

Primary (citable) accession number: O94827
Secondary accession number(s): B3KU07 , 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:	May 1, 2013
This is version 99 of the entry and version 3 of the sequence. [Complete history]

Entry status

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.