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Protein

Puratrophin-1

Gene

PLEKHG4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi.

Caution

Defects in PLEKHG4 were initially thought (PubMed:16001362) to be the cause of spinocerebellar ataxia 16q22-linked. However, it was later shown (PubMed:17611710) that it is not the case. Spinocerebellar ataxia 16q22-linked, also known as spinocerebellar ataxia type 31 (SCA31), is caused by defects in BEAN gene.2 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Names & Taxonomyi

Protein namesi
Recommended name:
Puratrophin-1
Alternative name(s):
Pleckstrin homology domain-containing family G member 4
Short name:
PH domain-containing family G member 4
Purkinje cell atrophy-associated protein 1
Gene namesi
Name:PLEKHG4
Synonyms:PRTPHN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000196155.12
HGNCiHGNC:24501 PLEKHG4
MIMi609526 gene
neXtProtiNX_Q58EX7

Pathology & Biotechi

Organism-specific databases

DisGeNETi25894
MalaCardsiPLEKHG4
OpenTargetsiENSG00000196155
Orphaneti98765 Spinocerebellar ataxia type 4
PharmGKBiPA142671163

Polymorphism and mutation databases

BioMutaiPLEKHG4
DMDMi74755121

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002249961 – 1191Puratrophin-1Add BLAST1191

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei64PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ58EX7
MaxQBiQ58EX7
PaxDbiQ58EX7
PeptideAtlasiQ58EX7
PRIDEiQ58EX7

PTM databases

iPTMnetiQ58EX7
PhosphoSitePlusiQ58EX7

Expressioni

Tissue specificityi

Expressed in kidney, Leydig cells in the testis, epithelial cells in the prostate gland and Langerhans islet in the pancreas. Isoform 1 and isoform 3 are strongly expressed in Purkinje cells and to a lower extent in other neurons (at protein level). Widely expressed at low levels. More strongly expressed in testis and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000196155
CleanExiHS_PLEKHG4
ExpressionAtlasiQ58EX7 baseline and differential
GenevisibleiQ58EX7 HS

Organism-specific databases

HPAiHPA055696

Interactioni

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi117402, 18 interactors
IntActiQ58EX7, 66 interactors
MINTiQ58EX7
STRINGi9606.ENSP00000353646

Structurei

3D structure databases

ProteinModelPortaliQ58EX7
SMRiQ58EX7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini732 – 908DHPROSITE-ProRule annotationAdd BLAST177
Domaini920 – 1027PHPROSITE-ProRule annotationAdd BLAST108

Phylogenomic databases

eggNOGiKOG0689 Eukaryota
ENOG410XSWY LUCA
GeneTreeiENSGT00760000119030
HOGENOMiHOG000115559
HOVERGENiHBG082147
InParanoidiQ58EX7
OMAiQQVGWPA
OrthoDBiEOG091G018B
PhylomeDBiQ58EX7
TreeFamiTF334329

Family and domain databases

CDDicd00160 RhoGEF, 1 hit
Gene3Di1.20.900.10, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR036865 CRAL-TRIO_dom_sf
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
PfamiView protein in Pfam
PF00621 RhoGEF, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00325 RhoGEF, 1 hit
SUPFAMiSSF48065 SSF48065, 1 hit
SSF52087 SSF52087, 1 hit
PROSITEiView protein in PROSITE
PS50010 DH_2, 1 hit
PS50003 PH_DOMAIN, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q58EX7-1) [UniParc]FASTAAdd to basket

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

« Hide

        10         20         30         40         50
MERPLENGDE SPDSQGHATD WRFAVCSFRD AWEEEEPASQ MHVKDPGPPR
60 70 80 90 100
PPAGATQDEE LQGSPLSRKF QLPPAADESG DAQRGTVESS SVLSEGPGPS
110 120 130 140 150
GVESLLCPMS SHLSLAQGES DTPGVGLVGD PGPSRAMPSG LSPGALDSDP
160 170 180 190 200
VGLGDPLSEI SKLLEAAPSG SGLPKPADCL LAQDLCWELL ASGMATLPGT
210 220 230 240 250
RDVQGRAVLL LCAHSPAWLQ SECSSQELIR LLLYLRSIPR PEVQALGLTV
260 270 280 290 300
LVDARICAPS SSLFSGLSQL QEAAPGAVYQ VLLVGSTLLK EVPSGLQLEQ
310 320 330 340 350
LPSQSLLTHI PTAGLPTSLG GGLPYCHQAW LDFRRRLEAL LQNCQAACAL
360 370 380 390 400
LQGAIESVKA VPQPMEPGEV GQLLQQTEVL MQQVLDSPWL AWLQCQGGRE
410 420 430 440 450
LTWLKQEVPE VTLSPDYRTA MDKADELYDR VDGLLHQLTL QSNQRIQALE
460 470 480 490 500
LVQTLEARES GLHQIEVWLQ QVGWPALEEA GEPSLDMLLQ AQGSFQELYQ
510 520 530 540 550
VAQEQVRQGE KFLQPLTGWE AAELDPPGAR FLALRAQLTE FSRALAQRCQ
560 570 580 590 600
RLADAERLFQ LFREALTWAE EGQRVLAELE QERPGVVLQQ LQLHWTRHPD
610 620 630 640 650
LPPAHFRKMW ALATGLGSEA IRQECRWAWA RCQDTWLALD QKLEASLKLP
660 670 680 690 700
PVGSTASLCV SQVPAAPAHP PLRKAYSFDR NLGQSLSEPA CHCHHAATIA
710 720 730 740 750
ACRRPEAGGG ALPQASPTVP PPGSSDPRSL NRLQLVLAEM VATEREYVRA
760 770 780 790 800
LEYTMENYFP ELDRPDVPQG LRGQRAHLFG NLEKLRDFHC HFFLRELEAC
810 820 830 840 850
TRHPPRVAYA FLRHRVQFGM YALYSKNKPR SDALMSSYGH TFFKDKQQAL
860 870 880 890 900
GDHLDLASYL LKPIQRMGKY ALLLQELARA CGGPTQELSA LREAQSLVHF
910 920 930 940 950
QLRHGNDLLA MDAIQGCDVN LKEQGQLVRQ DEFVVRTGRH KSVRRIFLFE
960 970 980 990 1000
ELLLFSKPRH GPTGVDTFAY KRSFKMADLG LTECCGNSNL RFEIWFRRRK
1010 1020 1030 1040 1050
ARDTFVLQAS SLAIKQAWTA DISHLLWRQA VHNKEVRMAE MVSMGVGNKA
1060 1070 1080 1090 1100
FRDIAPSEEA INDRTVNYVL KCREVRSRAS IAVAPFDHDS LYLGASNSLP
1110 1120 1130 1140 1150
GDPASCSVLG SLNLHLYRDP ALLGLRCPLY PSFPEEAALE AEAELGGQPS
1160 1170 1180 1190
LTAEDSEISS QCPSASGSSG SDSSCVSGQA LGRGLEDLPC V
Length:1,191
Mass (Da):130,803
Last modified:April 26, 2005 - v1
Checksum:iACFF5EE342CE56FD
GO
Isoform 2 (identifier: Q58EX7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     118-198: Missing.

Note: No experimental confirmation available.
Show »
Length:1,110
Mass (Da):122,896
Checksum:iB71E612E653CC8C9
GO
Isoform 3 (identifier: Q58EX7-3) [UniParc]FASTAAdd to basket
Also known as: short

The sequence of this isoform differs from the canonical sequence as follows:
     167-193: APSGSGLPKPADCLLAQDLCWELLASG → GKEGWAREVWEGNGDAWRDECQDFGGL
     194-1191: Missing.

Show »
Length:193
Mass (Da):20,247
Checksum:iBB42E7F515F7141C
GO

Sequence cautioni

The sequence AAH82974 differs from that shown. Reason: Frameshift at position 3.Curated
The sequence BAB15765 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti474W → L in AAH54486 (PubMed:15489334).Curated1
Sequence conflicti998R → G in AAH54486 (PubMed:15489334).Curated1
Sequence conflicti1134P → L in CAB55923 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050509412T → I. Corresponds to variant dbSNP:rs11860295EnsemblClinVar.1
Natural variantiVAR_050510525D → G. Corresponds to variant dbSNP:rs8044843EnsemblClinVar.1
Natural variantiVAR_050511830R → H. Corresponds to variant dbSNP:rs3868142EnsemblClinVar.1
Natural variantiVAR_0615191064R → H. Corresponds to variant dbSNP:rs56077142Ensembl.1
Natural variantiVAR_0505121090S → T. Corresponds to variant dbSNP:rs17680862Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_017329118 – 198Missing in isoform 2. 1 PublicationAdd BLAST81
Alternative sequenceiVSP_017330167 – 193APSGS…LLASG → GKEGWAREVWEGNGDAWRDE CQDFGGL in isoform 3. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_017331194 – 1191Missing in isoform 3. 1 PublicationAdd BLAST998

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB197663 mRNA Translation: BAE07054.1
AB197664 mRNA Translation: BAE07055.1
AK024475 mRNA Translation: BAB15765.1 Different initiation.
BC054486 mRNA Translation: AAH54486.1
BC063501 mRNA Translation: AAH63501.1
BC082974 mRNA Translation: AAH82974.1 Frameshift.
AL117435 mRNA Translation: CAB55923.1
CCDSiCCDS32466.1 [Q58EX7-1]
CCDS45512.1 [Q58EX7-2]
PIRiT17233
RefSeqiNP_001123199.1, NM_001129727.2 [Q58EX7-1]
NP_001123200.1, NM_001129728.1 [Q58EX7-1]
NP_001123201.1, NM_001129729.2 [Q58EX7-1]
NP_001123203.1, NM_001129731.2 [Q58EX7-2]
XP_011521287.1, XM_011522985.2 [Q58EX7-1]
XP_011521288.1, XM_011522986.2 [Q58EX7-1]
XP_011521289.1, XM_011522987.2 [Q58EX7-1]
XP_011521290.1, XM_011522988.2 [Q58EX7-1]
UniGeneiHs.188781

Genome annotation databases

EnsembliENST00000360461; ENSP00000353646; ENSG00000196155 [Q58EX7-1]
ENST00000379344; ENSP00000368649; ENSG00000196155 [Q58EX7-1]
ENST00000393966; ENSP00000462601; ENSG00000196155 [Q58EX7-3]
ENST00000427155; ENSP00000401118; ENSG00000196155 [Q58EX7-1]
ENST00000450733; ENSP00000398030; ENSG00000196155 [Q58EX7-2]
ENST00000563969; ENSP00000457086; ENSG00000196155 [Q58EX7-3]
GeneIDi25894
KEGGihsa:25894
UCSCiuc002eso.5 human [Q58EX7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPKHG4_HUMAN
AccessioniPrimary (citable) accession number: Q58EX7
Secondary accession number(s): Q4G0J8
, Q4H485, Q56A69, Q9H7K4, Q9UFW0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: April 26, 2005
Last modified: March 28, 2018
This is version 118 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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