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Protein

Pleckstrin homology domain-containing family A member 4

Gene

PLEKHA4

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

Functioni

Binds specifically to phosphatidylinositol 3-phosphate (PtdIns3P), but not to other phosphoinositides.1 Publication

GO - Molecular functioni

  • phosphatidylinositol-3-phosphate binding Source: UniProtKB

GO - Biological processi

Keywordsi

LigandLipid-binding

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 4
Short name:
PH domain-containing family A member 4
Alternative name(s):
Phosphoinositol 3-phosphate-binding protein 1
Short name:
PEPP-1
Gene namesi
Name:PLEKHA4
Synonyms:PEPP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000105559.11
HGNCiHGNC:14339 PLEKHA4
MIMi607769 gene
neXtProtiNX_Q9H4M7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000105559
PharmGKBiPA33404

Polymorphism and mutation databases

BioMutaiPLEKHA4
DMDMi48474644

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000538801 – 779Pleckstrin homology domain-containing family A member 4Add BLAST779

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei164PhosphoserineCombined sources1
Modified residuei559PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9H4M7
MaxQBiQ9H4M7
PaxDbiQ9H4M7
PeptideAtlasiQ9H4M7
PRIDEiQ9H4M7

PTM databases

iPTMnetiQ9H4M7
PhosphoSitePlusiQ9H4M7

Expressioni

Tissue specificityi

Highly expressed in melanoma. Detected at low levels in heart, skeletal muscle, kidney, liver and small intestine.1 Publication

Gene expression databases

BgeeiENSG00000105559
CleanExiHS_PLEKHA4
ExpressionAtlasiQ9H4M7 baseline and differential
GenevisibleiQ9H4M7 HS

Organism-specific databases

HPAiHPA042978
HPA048473

Interactioni

Protein-protein interaction databases

BioGridi121697, 8 interactors
IntActiQ9H4M7, 7 interactors
STRINGi9606.ENSP00000263265

Structurei

Secondary structure

1779
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi55 – 64Combined sources10
Beta strandi66 – 69Combined sources4
Beta strandi72 – 80Combined sources9
Beta strandi83 – 89Combined sources7
Beta strandi97 – 100Combined sources4
Helixi101 – 103Combined sources3
Beta strandi105 – 108Combined sources4
Beta strandi116 – 124Combined sources9
Beta strandi131 – 134Combined sources4
Helixi138 – 152Combined sources15

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1UPQX-ray1.48A45-167[»]
1UPRX-ray2.27A45-167[»]
ProteinModelPortaliQ9H4M7
SMRiQ9H4M7
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9H4M7

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini54 – 153PHPROSITE-ProRule annotationAdd BLAST100

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi162 – 353Pro-richAdd BLAST192

Phylogenomic databases

eggNOGiENOG410IFZ8 Eukaryota
ENOG410YAHN LUCA
GeneTreeiENSGT00530000063012
HOGENOMiHOG000115553
HOVERGENiHBG082146
InParanoidiQ9H4M7
OMAiPRSPQHW
OrthoDBiEOG091G037J
PhylomeDBiQ9H4M7
TreeFamiTF329090

Family and domain databases

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H4M7-1) [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
MEGSRPRSSL SLASSASTIS SLSSLSPKKP TRAVNKIHAF GKRGNALRRD
60 70 80 90 100
PNLPVHIRGW LHKQDSSGLR LWKRRWFVLS GHCLFYYKDS REESVLGSVL
110 120 130 140 150
LPSYNIRPDG PGAPRGRRFT FTAEHPGMRT YVLAADTLED LRGWLRALGR
160 170 180 190 200
ASRAEGDDYG QPRSPARPQP GEGPGGPGGP PEVSRGEEGR ISESPEVTRL
210 220 230 240 250
SRGRGRPRLL TPSPTTDLHS GLQMRRARSP DLFTPLSRPP SPLSLPRPRS
260 270 280 290 300
APARRPPAPS GDTAPPARPH TPLSRIDVRP PLDWGPQRQT LSRPPTPRRG
310 320 330 340 350
PPSEAGGGKP PRSPQHWSQE PRTQAHSGSP TYLQLPPRPP GTRASMVLLP
360 370 380 390 400
GPPLESTFHQ SLETDTLLTK LCGQDRLLRR LQEEIDQKQE EKEQLEAALE
410 420 430 440 450
LTRQQLGQAT REAGAPGRAW GRQRLLQDRL VSVRATLCHL TQERERVWDT
460 470 480 490 500
YSGLEQELGT LRETLEYLLH LGSPQDRVSA QQQLWMVEDT LAGLGGPQKP
510 520 530 540 550
PPHTEPDSPS PVLQGEESSE RESLPESLEL SSPRSPETDW GRPPGGDKDL
560 570 580 590 600
ASPHLGLGSP RVSRASSPEG RHLPSPQLGT KAPVARPRMS AQEQLERMRR
610 620 630 640 650
NQECGRPFPR PTSPRLLTLG RTLSPARRQP DVEQRPVVGH SGAQKWLRSS
660 670 680 690 700
GSWSSPRNTT PYLPTSEGHR ERVLSLSQAL ATEASQWHRM MTGGNLDSQG
710 720 730 740 750
DPLPGVPLPP SDPTRQETPP PRSPPVANSG STGFSRRGSG RGGGPTPWGP
760 770
AWDAGIAPPV LPQDEGAWPL RVTLLQSSF
Length:779
Mass (Da):85,401
Last modified:March 29, 2004 - v2
Checksum:i35866CAE2F2C262F
GO
Isoform 2 (identifier: Q9H4M7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     325-349: Missing.
     582-608: APVARPRMSAQEQLERMRRNQECGRPF → SKEHHPLLADFRRSPGAGSQPLPSPGY
     609-779: Missing.

Note: No experimental confirmation available.
Show »
Length:583
Mass (Da):64,190
Checksum:i445C73D0E78E71E5
GO

Sequence cautioni

The sequence AAH33832 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti590S → N in AAG01896 (PubMed:11001876).Curated1
Sequence conflicti779F → L in AAG01896 (PubMed:11001876).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05666737I → V1 PublicationCorresponds to variant dbSNP:rs506425Ensembl.1
Natural variantiVAR_056668597R → Q. Corresponds to variant dbSNP:rs12460394Ensembl.1
Natural variantiVAR_056669714T → A. Corresponds to variant dbSNP:rs34460869Ensembl.1
Natural variantiVAR_056670742G → V. Corresponds to variant dbSNP:rs35965411Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_009770325 – 349Missing in isoform 2. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_009771582 – 608APVAR…CGRPF → SKEHHPLLADFRRSPGAGSQ PLPSPGY in isoform 2. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_009772609 – 779Missing in isoform 2. 1 PublicationAdd BLAST171

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY007233 mRNA Translation: AAG01896.1
BC024157 mRNA Translation: AAH24157.1
BC033832 mRNA Translation: AAH33832.1 Different initiation.
BC064601 mRNA Translation: AAH64601.1
CCDSiCCDS12737.1 [Q9H4M7-1]
CCDS54291.1 [Q9H4M7-2]
RefSeqiNP_001154826.1, NM_001161354.1 [Q9H4M7-2]
NP_065955.2, NM_020904.2 [Q9H4M7-1]
UniGeneiHs.9469

Genome annotation databases

EnsembliENST00000263265; ENSP00000263265; ENSG00000105559 [Q9H4M7-1]
ENST00000355496; ENSP00000347683; ENSG00000105559 [Q9H4M7-2]
GeneIDi57664
KEGGihsa:57664
UCSCiuc002pkx.4 human [Q9H4M7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPKHA4_HUMAN
AccessioniPrimary (citable) accession number: Q9H4M7
Secondary accession number(s): Q8N4M8, Q8N658
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: March 29, 2004
Last modified: April 25, 2018
This is version 134 of the entry and version 2 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 19
    Human chromosome 19: 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
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