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Protein

Pleckstrin homology domain-containing family G member 3

Gene

PLEKHG3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Pleckstrin homology domain-containing family G member 3
Short name:
PH domain-containing family G member 3
Gene namesi
Name:PLEKHG3
Synonyms:KIAA0599
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000126822.16.
HGNCiHGNC:20364. PLEKHG3.

Pathology & Biotechi

Organism-specific databases

DisGeNETi26030.
OpenTargetsiENSG00000126822.
PharmGKBiPA134925358.

Polymorphism and mutation databases

BioMutaiPLEKHG3.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003068631 – 1219Pleckstrin homology domain-containing family G member 3Add BLAST1219

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei76PhosphoserineCombined sources1
Modified residuei433PhosphoserineBy similarity1
Modified residuei576PhosphoserineCombined sources1
Modified residuei577PhosphoserineCombined sources1
Modified residuei618PhosphoserineBy similarity1
Modified residuei631PhosphoserineCombined sources1
Modified residuei640PhosphoserineCombined sources1
Modified residuei643PhosphoserineCombined sources1
Modified residuei647PhosphoserineCombined sources1
Modified residuei741PhosphoserineCombined sources1
Modified residuei779PhosphoserineBy similarity1
Modified residuei827PhosphoserineCombined sources1
Modified residuei962PhosphoserineCombined sources1
Modified residuei1011PhosphoserineCombined sources1
Modified residuei1023PhosphoserineBy similarity1
Modified residuei1037PhosphoserineCombined sources1
Modified residuei1040PhosphoserineCombined sources1
Modified residuei1081PhosphoserineCombined sources1
Modified residuei1107Omega-N-methylarginineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiA1L390.
MaxQBiA1L390.
PRIDEiA1L390.

PTM databases

iPTMnetiA1L390.
PhosphoSitePlusiA1L390.

Expressioni

Gene expression databases

BgeeiENSG00000126822.
CleanExiHS_PLEKHG3.
ExpressionAtlasiA1L390. baseline and differential.
GenevisibleiA1L390. HS.

Organism-specific databases

HPAiHPA063455.
HPA065323.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi117496. 24 interactors.
IntActiA1L390. 22 interactors.

Structurei

3D structure databases

ProteinModelPortaliA1L390.
SMRiA1L390.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini93 – 272DHPROSITE-ProRule annotationAdd BLAST180
Domaini296 – 394PHPROSITE-ProRule annotationAdd BLAST99

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi4 – 67Ser-richAdd BLAST64
Compositional biasi578 – 582Poly-Glu5

Phylogenomic databases

GeneTreeiENSGT00900000140796.
HOVERGENiHBG071520.
InParanoidiA1L390.
OMAiKKAWSSQ.
OrthoDBiEOG091G00JV.
PhylomeDBiA1L390.
TreeFamiTF328565.

Family and domain databases

CDDicd00160. RhoGEF. 1 hit.
Gene3Di1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProiView protein in InterPro
IPR035899. DBL_dom_sf.
IPR000219. DH-domain.
IPR011993. PH-like_dom_sf.
IPR001849. PH_domain.
PfamiView protein in Pfam
PF00169. PH. 1 hit.
PF00621. RhoGEF. 1 hit.
SMARTiView protein in SMART
SM00233. PH. 1 hit.
SM00325. RhoGEF. 1 hit.
SUPFAMiSSF48065. SSF48065. 1 hit.
SSF50729. SSF50729. 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: A1L390-1) [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
MPVSTSLHQD GSQERPVSLT STTSSSGSSC DSRSAMEEPS SSEAPAKNGA
60 70 80 90 100
GSLRSRHLPN SNNNSSSWLN VKGPLSPFNS RAAAGPAHHK LSYLGRVVRE
110 120 130 140 150
IVETERMYVQ DLRSIVEDYL LKIIDTPGLL KPEQVSALFG NIENIYALNS
160 170 180 190 200
QLLRDLDSCN SDPVAVASCF VERSQEFDIY TQYCNNYPNS VAALTECMRD
210 220 230 240 250
KQQAKFFRDR QELLQHSLPL GSYLLKPVQR ILKYHLLLQE IAKHFDEEED
260 270 280 290 300
GFEVVEDAID TMTCVAWYIN DMKRRHEHAV RLQEIQSLLI NWKGPDLTTY
310 320 330 340 350
GELVLEGTFR VHRVRNERTF FLFDKTLLIT KKRGDHFVYK GNIPCSSLML
360 370 380 390 400
IESTRDSLCF TVTHYKHSKQ QYSIQAKTVE EKRNWTHHIK RLILENHHAT
410 420 430 440 450
IPQKAKEAIL EMDSYYPNRY RCSPERLKKA WSSQDEVSTN VRQGRRQSEP
460 470 480 490 500
TKHLLRQLNE KARAAGMKGK GRRESESSRS SRRPSGRSPT STEKRMSFES
510 520 530 540 550
ISSLPEVEPD PEAGSEQEVF SAVEGPSAEE TPSDTESPEV LETQLDAHQG
560 570 580 590 600
LLGMDPPGDM VDFVAAESTE DLKALSSEEE EEMGGAAQEP ESLLPPSVLD
610 620 630 640 650
QASVIAERFV SSFSRRSSVA QEDSKSSGFG SPRLVSRSSS VLSLEGSEKG
660 670 680 690 700
LARHGSATDS LSCQLSPEVD ISVGVATEDS PSVNGMEPPS PGCPVEPDRS
710 720 730 740 750
SCKKKESALS TRDRLLLDKI KSYYENAEHH DAGFSVRRRE SLSYIPKGLV
760 770 780 790 800
RNSISRFNSL PRPDPEPVPP VGSKRQVGSR PTSWALFELP GPSQAVKGDP
810 820 830 840 850
PPISDAEFRP SSEIVKIWEG MESSGGSPGK GPGQGQANGF DLHEPLFILE
860 870 880 890 900
EHELGAITEE SATASPESSS PTEGRSPAHL ARELKELVKE LSSSTQGELV
910 920 930 940 950
APLHPRIVQL SHVMDSHVSE RVKNKVYQLA RQYSLRIKSN KPVMARPPLQ
960 970 980 990 1000
WEKVAPERDG KSPTVPCLQE EAGEPLGGKG KRKPVLSLFD YEQLMAQEHS
1010 1020 1030 1040 1050
PPKPSSAGEM SPQRFFFNPS AVSQRTTSPG GRPSARSPLS PTETFSWPDV
1060 1070 1080 1090 1100
RELCSKYASR DEARRAGGGR PRGPPVNRSH SVPENMVEPP LSGRVGRCRS
1110 1120 1130 1140 1150
LSTKRGRGGG EAAQSPGPLP QSKPDGGETL YVTADLTLED NRRVIVMEKG
1160 1170 1180 1190 1200
PLPSPTAGLE ESSGQGPSSP VALLGQVQDF QQSAECQPKE EGSRDPADPS
1210
QQGRVRNLRE KFQALNSVG
Length:1,219
Mass (Da):134,412
Last modified:February 6, 2007 - v1
Checksum:iDAEB5673340F4FBD
GO
Isoform 2 (identifier: A1L390-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-466: Missing.
     467-468: MK → M

Show »
Length:752
Mass (Da):80,886
Checksum:iED46C97F19A331BC
GO
Isoform 3 (identifier: A1L390-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     118-173: Missing.

Note: No experimental confirmation available.
Show »
Length:1,163
Mass (Da):128,247
Checksum:i110333017DAC3A6F
GO

Sequence cautioni

The sequence BAB84995 differs from that shown. Intron retention. There are two regions of intron retention within the sequence which cause it to shift frame.Curated
The sequence CAD66586 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti443 – 468QGRRQ…AAGMK → KGAGPEPPGSEEEEEEQEES LAVAEQ in AAH04298 (PubMed:15489334).CuratedAdd BLAST26
Sequence conflicti461 – 468KARAAGMK → ESLAVAEQ in AAH73907 (PubMed:15489334).Curated8
Sequence conflicti723 – 736YYENA…AGFSV → WWPHCTPASCSSPT in AAH04298 (PubMed:15489334).CuratedAdd BLAST14
Sequence conflicti921R → S in AAI29953 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0615181014R → H. Corresponds to variant dbSNP:rs41309246Ensembl.1
Natural variantiVAR_0353301036R → W1 PublicationCorresponds to variant dbSNP:rs229649Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0285331 – 466Missing in isoform 2. 1 PublicationAdd BLAST466
Alternative sequenceiVSP_028534118 – 173Missing in isoform 3. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_041513467 – 468MK → M in isoform 2. 1 Publication2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL121774 Genomic DNA. No translation available.
BC004298 mRNA. Translation: AAH04298.1.
BC011891 mRNA. Translation: AAH11891.2.
BC063554 mRNA. Translation: AAH63554.1.
BC073907 mRNA. Translation: AAH73907.1.
BC129952 mRNA. Translation: AAI29953.1.
BC129953 mRNA. Translation: AAI29954.1.
BX248779 mRNA. Translation: CAD66586.1. Different initiation.
AK074169 mRNA. Translation: BAB84995.1. Sequence problems.
AB011171 mRNA. Translation: BAA25525.1.
CCDSiCCDS76690.1. [A1L390-1]
PIRiT00267.
RefSeqiNP_001295076.1. NM_001308147.1. [A1L390-1]
XP_016876646.1. XM_017021157.1. [A1L390-1]
UniGeneiHs.509637.

Genome annotation databases

EnsembliENST00000247226; ENSP00000247226; ENSG00000126822. [A1L390-1]
ENST00000394691; ENSP00000378183; ENSG00000126822. [A1L390-3]
ENST00000471182; ENSP00000450945; ENSG00000126822. [A1L390-2]
GeneIDi26030.
KEGGihsa:26030.
UCSCiuc001xhn.2. human. [A1L390-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPKHG3_HUMAN
AccessioniPrimary (citable) accession number: A1L390
Secondary accession number(s): A1L389
, B5MEC9, O60339, Q6GMS3, Q6P4B1, Q7L3S3, Q86SW7, Q8TEF5, Q96EW6, Q9BT82
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: February 6, 2007
Last modified: November 22, 2017
This is version 96 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

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations