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Protein

Pleckstrin homology domain-containing family A member 4

Gene

PLEKHA4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  • 1-phosphatidylinositol binding Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

Lipid-binding

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

HGNCiHGNC:14339. PLEKHA4.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA33404.

Polymorphism and mutation databases

BioMutaiPLEKHA4.
DMDMi48474644.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 779779Pleckstrin homology domain-containing family A member 4PRO_0000053880Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei164 – 1641PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9H4M7.
MaxQBiQ9H4M7.
PaxDbiQ9H4M7.
PRIDEiQ9H4M7.

PTM databases

iPTMnetiQ9H4M7.
PhosphoSiteiQ9H4M7.

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

BgeeiQ9H4M7.
CleanExiHS_PLEKHA4.
ExpressionAtlasiQ9H4M7. baseline and differential.
GenevisibleiQ9H4M7. HS.

Organism-specific databases

HPAiHPA042978.
HPA048473.

Interactioni

Protein-protein interaction databases

BioGridi121697. 6 interactions.
IntActiQ9H4M7. 6 interactions.
MINTiMINT-1385341.
STRINGi9606.ENSP00000263265.

Structurei

Secondary structure

1
779
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi55 – 6410Combined sources
Beta strandi66 – 694Combined sources
Beta strandi72 – 809Combined sources
Beta strandi83 – 897Combined sources
Beta strandi97 – 1004Combined sources
Helixi101 – 1033Combined sources
Beta strandi105 – 1084Combined sources
Beta strandi116 – 1249Combined sources
Beta strandi131 – 1344Combined sources
Helixi138 – 15215Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1UPQX-ray1.48A45-167[»]
1UPRX-ray2.27A45-167[»]
ProteinModelPortaliQ9H4M7.
SMRiQ9H4M7. Positions 47-153.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9H4M7.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini54 – 153100PHPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi162 – 353192Pro-richAdd
BLAST

Sequence similaritiesi

Contains 1 PH domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IFZ8. Eukaryota.
ENOG410YAHN. LUCA.
GeneTreeiENSGT00530000063012.
HOGENOMiHOG000115553.
HOVERGENiHBG082146.
InParanoidiQ9H4M7.
OMAiTEASQWH.
OrthoDBiEOG7K6PTJ.
PhylomeDBiQ9H4M7.
TreeFamiTF329090.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00169. PH. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
PROSITEiPS50003. PH_DOMAIN. 1 hit.
[Graphical view]

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 AAH33832.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti590 – 5901S → N in AAG01896 (PubMed:11001876).Curated
Sequence conflicti779 – 7791F → L in AAG01896 (PubMed:11001876).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti37 – 371I → V.1 Publication
Corresponds to variant rs506425 [ dbSNP | Ensembl ].
VAR_056667
Natural varianti597 – 5971R → Q.
Corresponds to variant rs12460394 [ dbSNP | Ensembl ].
VAR_056668
Natural varianti714 – 7141T → A.
Corresponds to variant rs34460869 [ dbSNP | Ensembl ].
VAR_056669
Natural varianti742 – 7421G → V.
Corresponds to variant rs35965411 [ dbSNP | Ensembl ].
VAR_056670

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei325 – 34925Missing in isoform 2. 1 PublicationVSP_009770Add
BLAST
Alternative sequencei582 – 60827APVAR…CGRPF → SKEHHPLLADFRRSPGAGSQ PLPSPGY in isoform 2. 1 PublicationVSP_009771Add
BLAST
Alternative sequencei609 – 779171Missing in isoform 2. 1 PublicationVSP_009772Add
BLAST

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

Cross-referencesi

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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1UPQX-ray1.48A45-167[»]
1UPRX-ray2.27A45-167[»]
ProteinModelPortaliQ9H4M7.
SMRiQ9H4M7. Positions 47-153.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121697. 6 interactions.
IntActiQ9H4M7. 6 interactions.
MINTiMINT-1385341.
STRINGi9606.ENSP00000263265.

PTM databases

iPTMnetiQ9H4M7.
PhosphoSiteiQ9H4M7.

Polymorphism and mutation databases

BioMutaiPLEKHA4.
DMDMi48474644.

Proteomic databases

EPDiQ9H4M7.
MaxQBiQ9H4M7.
PaxDbiQ9H4M7.
PRIDEiQ9H4M7.

Protocols and materials databases

DNASUi57664.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi57664.
GeneCardsiPLEKHA4.
HGNCiHGNC:14339. PLEKHA4.
HPAiHPA042978.
HPA048473.
MIMi607769. gene.
neXtProtiNX_Q9H4M7.
PharmGKBiPA33404.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFZ8. Eukaryota.
ENOG410YAHN. LUCA.
GeneTreeiENSGT00530000063012.
HOGENOMiHOG000115553.
HOVERGENiHBG082146.
InParanoidiQ9H4M7.
OMAiTEASQWH.
OrthoDBiEOG7K6PTJ.
PhylomeDBiQ9H4M7.
TreeFamiTF329090.

Miscellaneous databases

EvolutionaryTraceiQ9H4M7.
GenomeRNAii57664.
PROiQ9H4M7.
SOURCEiSearch...

Gene expression databases

BgeeiQ9H4M7.
CleanExiHS_PLEKHA4.
ExpressionAtlasiQ9H4M7. baseline and differential.
GenevisibleiQ9H4M7. HS.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00169. PH. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
PROSITEiPS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities."
    Dowler S.J., Currie R.A., Campbell D.G., Deak M., Kular G., Downes C.P., Alessi D.R.
    Biochem. J. 351:19-31(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY.
  2. "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 1 AND 2), VARIANT VAL-37.
    Tissue: Brain, Melanoma and Uterus.
  3. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-164, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.

Entry informationi

Entry nameiPKHA4_HUMAN
AccessioniPrimary (citable) accession number: Q9H4M7
Secondary accession number(s): Q8N4M8, Q8N658
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: March 29, 2004
Last modified: June 8, 2016
This is version 121 of the entry and version 2 of the sequence. [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
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.