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Protein

Pleckstrin homology domain-containing family A member 6

Gene

PLEKHA6

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

Functioni

Enzyme and pathway databases

ReactomeiR-HSA-1660499. Synthesis of PIPs at the plasma membrane.

Names & Taxonomyi

Protein namesi
Recommended name:
Pleckstrin homology domain-containing family A member 6
Short name:
PH domain-containing family A member 6
Alternative name(s):
Phosphoinositol 3-phosphate-binding protein 3
Short name:
PEPP-3
Gene namesi
Name:PLEKHA6
Synonyms:KIAA0969, PEPP3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000143850.12.
HGNCiHGNC:17053. PLEKHA6.

Pathology & Biotechi

Organism-specific databases

DisGeNETi22874.
OpenTargetsiENSG00000143850.
PharmGKBiPA134955964.

Polymorphism and mutation databases

BioMutaiPLEKHA6.
DMDMi160334379.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000538841 – 1048Pleckstrin homology domain-containing family A member 6Add BLAST1048

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei247PhosphoserineBy similarity1
Modified residuei251PhosphoserineBy similarity1
Modified residuei314PhosphoserineBy similarity1
Modified residuei459PhosphoserineCombined sources1
Modified residuei461PhosphoserineCombined sources1
Modified residuei472PhosphoserineCombined sources1
Modified residuei492PhosphotyrosineBy similarity1
Modified residuei591PhosphoserineCombined sources1
Modified residuei744PhosphothreonineBy similarity1
Modified residuei777PhosphoserineCombined sources1
Modified residuei784PhosphothreonineBy similarity1
Modified residuei801PhosphoserineBy similarity1
Modified residuei848PhosphoserineCombined sources1
Modified residuei854PhosphoserineCombined sources1
Modified residuei867PhosphoserineCombined sources1
Modified residuei920PhosphothreonineCombined sources1
Modified residuei940PhosphoserineCombined sources1
Modified residuei1015PhosphothreonineBy similarity1
Modified residuei1017PhosphoserineCombined sources1
Modified residuei1020PhosphothreonineBy similarity1
Modified residuei1021PhosphoserineBy similarity1
Modified residuei1024PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y2H5.
MaxQBiQ9Y2H5.
PaxDbiQ9Y2H5.
PeptideAtlasiQ9Y2H5.
PRIDEiQ9Y2H5.

PTM databases

iPTMnetiQ9Y2H5.
PhosphoSitePlusiQ9Y2H5.
SwissPalmiQ9Y2H5.

Expressioni

Tissue specificityi

Highly expressed in heart, kidney and throughout the brain.

Gene expression databases

BgeeiENSG00000143850.
CleanExiHS_PLEKHA6.
ExpressionAtlasiQ9Y2H5. baseline and differential.
GenevisibleiQ9Y2H5. HS.

Organism-specific databases

HPAiHPA028152.
HPA054311.

Interactioni

Protein-protein interaction databases

BioGridi116541. 7 interactors.
IntActiQ9Y2H5. 4 interactors.
STRINGi9606.ENSP00000272203.

Structurei

Secondary structure

11048
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi62 – 69Combined sources8
Beta strandi73 – 75Combined sources3
Beta strandi77 – 85Combined sources9
Beta strandi88 – 94Combined sources7
Beta strandi102 – 105Combined sources4
Beta strandi110 – 113Combined sources4
Turni116 – 119Combined sources4
Beta strandi123 – 129Combined sources7
Beta strandi131 – 133Combined sources3
Beta strandi135 – 139Combined sources5
Helixi143 – 155Combined sources13

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2D9YNMR-A57-160[»]
2YRYNMR-A46-160[»]
ProteinModelPortaliQ9Y2H5.
SMRiQ9Y2H5.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9Y2H5.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini59 – 158PHPROSITE-ProRule annotationAdd BLAST100

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi162 – 386Pro-richAdd BLAST225

Phylogenomic databases

eggNOGiENOG410IKMF. Eukaryota.
ENOG410ZX2B. LUCA.
GeneTreeiENSGT00530000063012.
HOGENOMiHOG000115554.
HOVERGENiHBG099912.
InParanoidiQ9Y2H5.
PhylomeDBiQ9Y2H5.
TreeFamiTF329090.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiView protein in InterPro
IPR011993. PH_dom-like.
IPR001849. PH_domain.
PfamiView protein in Pfam
PF00169. PH. 1 hit.
SMARTiView protein in SMART
SM00233. PH. 1 hit.
SUPFAMiSSF50729. SSF50729. 1 hit.
PROSITEiView protein in PROSITE
PS50003. PH_DOMAIN. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9Y2H5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSNKTGGKRP ATTNSDIPNH NMVSEVPPER PSVRATRTAR KAVAFGKRSH
60 70 80 90 100
SMKRNPNAPV TKAGWLFKQA SSGVKQWNKR WFVLVDRCLF YYKDEKEESI
110 120 130 140 150
LGSIPLLSFR VAAVQPSDNI SRKHTFKAEH AGVRTYFFSA ESPEEQEAWI
160 170 180 190 200
QAMGEAARVQ IPPAQKSVPQ AVRHSHEKPD SENVPPSKHH QQPPHNSLPK
210 220 230 240 250
PEPEAKTRGE GDGRGCEKAE RRPERPEVKK EPPVKANGLP AGPEPASEPG
260 270 280 290 300
SPYPEGPRVP GGGEQPAQPN GWQYHSPSRP GSTAFPSQDG ETGGHRRSFP
310 320 330 340 350
PRTNPDKIAQ RKSSMNQLQQ WVNLRRGVPP PEDLRSPSRF YPVSRRVPEY
360 370 380 390 400
YGPYSSQYPD DYQYYPPGVR PESICSMPAY DRISPPWALE DKRHAFRNGG
410 420 430 440 450
GPAYQLREWK EPASYGRQDA TVWIPSPSRQ PVYYDELDAA SSSLRRLSLQ
460 470 480 490 500
PRSHSVPRSP SQGSYSRARI YSPVRSPSAR FERLPPRSED IYADPAAYVM
510 520 530 540 550
RRSISSPKVP PYPEVFRDSL HTYKLNEQDT DKLLGKLCEQ NKVVREQDRL
560 570 580 590 600
VQQLRAEKES LESALMGTHQ ELEMFGSQPA YPEKLRHKKD SLQNQLINIR
610 620 630 640 650
VELSQATTAL TNSTIEYEHL ESEVSALHDD LWEQLNLDTQ NEVLNRQIQK
660 670 680 690 700
EIWRIQDVME GLRKNNPSRG TDTAKHRGGL GPSATYSSNS PASPLSSASL
710 720 730 740 750
TSPLSPFSLV SGSQGSPTKP GSNEPKANYE QSKKDPHQTL PLDTPRDISL
760 770 780 790 800
VPTRQEVEAE KQAALNKVGV VPPRTKSPTD DEVTPSAVVR RNASGLTNGL
810 820 830 840 850
SSQERPKSAV FPGEGKVKMS VEEQIDRMRR HQSGSMREKR RSLQLPASPA
860 870 880 890 900
PDPSPRPAYK VVRRHRSIHE VDISNLEAAL RAEEPGGHAY ETPREEIARL
910 920 930 940 950
RKMELEPQHY DVDINKELST PDKVLIPERY IDLEPDTPLS PEELKEKQKK
960 970 980 990 1000
VERIKTLIAK SSMQNVVPIG EGDSVDVPQD SESQLQEQEK RIEISCALAT
1010 1020 1030 1040
EASRRGRMLS VQCATPSPPT SPASPAPPAN PLSSESPRGA DSSYTMRV
Length:1,048
Mass (Da):117,128
Last modified:November 13, 2007 - v4
Checksum:i230F7CB49C9DDF32
GO

Sequence cautioni

The sequence BAA76813 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03714543V → I2 PublicationsCorresponds to variant dbSNP:rs10900571Ensembl.1
Natural variantiVAR_037146837R → K2 PublicationsCorresponds to variant dbSNP:rs10900562Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB023186 mRNA. Translation: BAA76813.2. Different initiation.
AL592114 Genomic DNA. No translation available.
BC152475 mRNA. Translation: AAI52476.1.
CCDSiCCDS1444.1.
RefSeqiNP_055750.2. NM_014935.4.
XP_005245025.2. XM_005244968.4.
UniGeneiHs.253146.

Genome annotation databases

EnsembliENST00000272203; ENSP00000272203; ENSG00000143850.
GeneIDi22874.
KEGGihsa:22874.
UCSCiuc001hau.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPKHA6_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2H5
Secondary accession number(s): A7MD51, Q5VTI6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: November 13, 2007
Last modified: September 27, 2017
This is version 132 of the entry and version 4 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references