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Protein

Pleckstrin homology domain-containing family A member 1

Gene

PLEKHA1

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

Functioni

Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane.3 Publications

GO - Molecular functioni

  • PDZ domain binding Source: UniProtKB
  • phosphatidylinositol-3,4-bisphosphate 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 1
Short name:
PH domain-containing family A member 1
Alternative name(s):
Tandem PH domain-containing protein 1
Short name:
TAPP-1
Gene namesi
Name:PLEKHA1
Synonyms:TAPP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000107679.14
HGNCiHGNC:14335 PLEKHA1
MIMi607772 gene
neXtProtiNX_Q9HB21

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

Cell membrane, Cytoplasm, Membrane, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi28R → L: No effect on phosphatidylinositide binding. 1 Publication1
Mutagenesisi203 – 205AVM → GGG: Abolishes phosphatidylinositide binding. 3
Mutagenesisi203 – 205AVM → GLV: Binds both PtdIns3,4P2 and PtdIns3,4,5P3. 3
Mutagenesisi203 – 204AV → GG: Binds both PtdIns3,4P2 and PtdIns3,4,5P3. 2
Mutagenesisi203A → G: Binds both PtdIns3,4P2 and PtdIns3,4,5P3. 1 Publication1
Mutagenesisi204V → L: No effect. 1 Publication1
Mutagenesisi205M → V: No effect. 1 Publication1
Mutagenesisi207N → T: No effect. 1 Publication1
Mutagenesisi211R → L: Abolishes phosphatidylinositide binding. 1 Publication1

Organism-specific databases

DisGeNETi59338
MalaCardsiPLEKHA1
OpenTargetsiENSG00000107679
PharmGKBiPA33401

Chemistry databases

ChEMBLiCHEMBL3763005
DrugBankiDB04272 Citric Acid

Polymorphism and mutation databases

BioMutaiPLEKHA1
DMDMi48474647

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000538731 – 404Pleckstrin homology domain-containing family A member 1Add BLAST404

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei332PhosphoserineCombined sources1
Modified residuei362PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9HB21
MaxQBiQ9HB21
PaxDbiQ9HB21
PeptideAtlasiQ9HB21
PRIDEiQ9HB21
ProteomicsDBi81474
81475 [Q9HB21-2]

PTM databases

iPTMnetiQ9HB21
PhosphoSitePlusiQ9HB21

Expressioni

Tissue specificityi

Highly expressed in skeletal muscle, thymus, pancreas, placenta and lung. Detected at low levels in brain, heart, peripheral blood leukocytes, testis, ovary, spinal cord, thyroid, kidney, liver, small intestine and colon.2 Publications

Gene expression databases

BgeeiENSG00000107679 Expressed in 224 organ(s), highest expression level in chorionic villus
CleanExiHS_PLEKHA1
ExpressionAtlasiQ9HB21 baseline and differential
GenevisibleiQ9HB21 HS

Organism-specific databases

HPAiHPA002043
HPA064795

Interactioni

Subunit structurei

Interacts with MPDZ and PTPN13.2 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121880, 18 interactors
IntActiQ9HB21, 12 interactors
MINTiQ9HB21
STRINGi9606.ENSP00000357986

Structurei

Secondary structure

1404
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9HB21
SMRiQ9HB21
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9HB21

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini7 – 112PH 1PROSITE-ProRule annotationAdd BLAST106
Domaini191 – 289PH 2PROSITE-ProRule annotationAdd BLAST99

Domaini

Binds to membranes enriched in PtdIns3,4P2 via the C-terminal PH domain.

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IF2M Eukaryota
ENOG410ZQEQ LUCA
GeneTreeiENSGT00440000037398
HOGENOMiHOG000116175
HOVERGENiHBG053612
InParanoidiQ9HB21
OMAiDNANRQA
OrthoDBiEOG091G08U3
PhylomeDBiQ9HB21
TreeFamiTF329516

Family and domain databases

Gene3Di2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
PfamiView protein in Pfam
PF00169 PH, 2 hits
SMARTiView protein in SMART
SM00233 PH, 2 hits
PROSITEiView protein in PROSITE
PS50003 PH_DOMAIN, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9HB21-1) [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
MPYVDRQNRI CGFLDIEENE NSGKFLRRYF ILDTREDSFV WYMDNPQNLP
60 70 80 90 100
SGSSRVGAIK LTYISKVSDA TKLRPKAEFC FVMNAGMRKY FLQANDQQDL
110 120 130 140 150
VEWVNVLNKA IKITVPKQSD SQPNSDNLSR HGECGKKQVS YRTDIVGGVP
160 170 180 190 200
IITPTQKEEV NECGESIDRN NLKRSQSHLP YFTPKPPQDS AVIKAGYCVK
210 220 230 240 250
QGAVMKNWKR RYFQLDENTI GYFKSELEKE PLRVIPLKEV HKVQECKQSD
260 270 280 290 300
IMMRDNLFEI VTTSRTFYVQ ADSPEEMHSW IKAVSGAIVA QRGPGRSASS
310 320 330 340 350
EHPPGPSESK HAFRPTNAAT ATSHSTASRS NSLVSTFTME KRGFYESLAK
360 370 380 390 400
VKPGNFKVQT VSPREPASKV TEQALLRPQS KNGPQEKDCD LVDLDDASLP

VSDV
Length:404
Mass (Da):45,553
Last modified:March 29, 2004 - v2
Checksum:i6855CD58E1A80F8A
GO
Isoform 2 (identifier: Q9HB21-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     301-404: EHPPGPSESK...DDASLPVSDV → MRQARRLSNPCIQRYTSRAGECSTYVGSHANVPS

Note: No experimental confirmation available.
Show »
Length:334
Mass (Da):38,113
Checksum:i34B9D858E2993FDE
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5RGS4Q5RGS4_HUMAN
Pleckstrin homology domain-containi...
PLEKHA1
383Annotation score:
R4GMZ9R4GMZ9_HUMAN
Pleckstrin homology domain-containi...
PLEKHA1
133Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024562320T → A2 PublicationsCorresponds to variant dbSNP:rs1045216Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_043091301 – 404EHPPG…PVSDV → MRQARRLSNPCIQRYTSRAG ECSTYVGSHANVPS in isoform 2. 1 PublicationAdd BLAST104

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF286160 mRNA Translation: AAG15197.1
AK057463 mRNA Translation: BAG51917.1
BX664700 Genomic DNA No translation available.
BX842242 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49315.1
CH471066 Genomic DNA Translation: EAW49316.1
CH471066 Genomic DNA Translation: EAW49318.1
CH471066 Genomic DNA Translation: EAW49319.1
BC001136 mRNA Translation: AAH01136.1
BC042458 mRNA Translation: AAH42458.1
CCDSiCCDS55730.1 [Q9HB21-2]
CCDS7629.1 [Q9HB21-1]
RefSeqiNP_001001974.1, NM_001001974.2 [Q9HB21-1]
NP_001182537.1, NM_001195608.1 [Q9HB21-2]
NP_001317107.1, NM_001330178.1
NP_067635.2, NM_021622.4 [Q9HB21-1]
XP_005270073.1, XM_005270016.1 [Q9HB21-1]
XP_005270078.1, XM_005270021.4 [Q9HB21-2]
XP_016871969.1, XM_017016480.1 [Q9HB21-1]
XP_016871970.1, XM_017016481.1 [Q9HB21-1]
XP_016871971.1, XM_017016482.1 [Q9HB21-1]
XP_016871979.1, XM_017016490.1 [Q9HB21-2]
XP_016871980.1, XM_017016491.1 [Q9HB21-2]
UniGeneiHs.643512
Hs.738826

Genome annotation databases

EnsembliENST00000368988; ENSP00000357984; ENSG00000107679 [Q9HB21-2]
ENST00000368990; ENSP00000357986; ENSG00000107679 [Q9HB21-1]
ENST00000392799; ENSP00000376547; ENSG00000107679 [Q9HB21-1]
ENST00000433307; ENSP00000394416; ENSG00000107679 [Q9HB21-1]
GeneIDi59338
KEGGihsa:59338
UCSCiuc001lge.3 human [Q9HB21-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF286160 mRNA Translation: AAG15197.1
AK057463 mRNA Translation: BAG51917.1
BX664700 Genomic DNA No translation available.
BX842242 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49315.1
CH471066 Genomic DNA Translation: EAW49316.1
CH471066 Genomic DNA Translation: EAW49318.1
CH471066 Genomic DNA Translation: EAW49319.1
BC001136 mRNA Translation: AAH01136.1
BC042458 mRNA Translation: AAH42458.1
CCDSiCCDS55730.1 [Q9HB21-2]
CCDS7629.1 [Q9HB21-1]
RefSeqiNP_001001974.1, NM_001001974.2 [Q9HB21-1]
NP_001182537.1, NM_001195608.1 [Q9HB21-2]
NP_001317107.1, NM_001330178.1
NP_067635.2, NM_021622.4 [Q9HB21-1]
XP_005270073.1, XM_005270016.1 [Q9HB21-1]
XP_005270078.1, XM_005270021.4 [Q9HB21-2]
XP_016871969.1, XM_017016480.1 [Q9HB21-1]
XP_016871970.1, XM_017016481.1 [Q9HB21-1]
XP_016871971.1, XM_017016482.1 [Q9HB21-1]
XP_016871979.1, XM_017016490.1 [Q9HB21-2]
XP_016871980.1, XM_017016491.1 [Q9HB21-2]
UniGeneiHs.643512
Hs.738826

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1EAZX-ray1.40A182-303[»]
ProteinModelPortaliQ9HB21
SMRiQ9HB21
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121880, 18 interactors
IntActiQ9HB21, 12 interactors
MINTiQ9HB21
STRINGi9606.ENSP00000357986

Chemistry databases

ChEMBLiCHEMBL3763005
DrugBankiDB04272 Citric Acid

PTM databases

iPTMnetiQ9HB21
PhosphoSitePlusiQ9HB21

Polymorphism and mutation databases

BioMutaiPLEKHA1
DMDMi48474647

Proteomic databases

EPDiQ9HB21
MaxQBiQ9HB21
PaxDbiQ9HB21
PeptideAtlasiQ9HB21
PRIDEiQ9HB21
ProteomicsDBi81474
81475 [Q9HB21-2]

Protocols and materials databases

DNASUi59338
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000368988; ENSP00000357984; ENSG00000107679 [Q9HB21-2]
ENST00000368990; ENSP00000357986; ENSG00000107679 [Q9HB21-1]
ENST00000392799; ENSP00000376547; ENSG00000107679 [Q9HB21-1]
ENST00000433307; ENSP00000394416; ENSG00000107679 [Q9HB21-1]
GeneIDi59338
KEGGihsa:59338
UCSCiuc001lge.3 human [Q9HB21-1]

Organism-specific databases

CTDi59338
DisGeNETi59338
EuPathDBiHostDB:ENSG00000107679.14
GeneCardsiPLEKHA1
HGNCiHGNC:14335 PLEKHA1
HPAiHPA002043
HPA064795
MalaCardsiPLEKHA1
MIMi607772 gene
neXtProtiNX_Q9HB21
OpenTargetsiENSG00000107679
PharmGKBiPA33401
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF2M Eukaryota
ENOG410ZQEQ LUCA
GeneTreeiENSGT00440000037398
HOGENOMiHOG000116175
HOVERGENiHBG053612
InParanoidiQ9HB21
OMAiDNANRQA
OrthoDBiEOG091G08U3
PhylomeDBiQ9HB21
TreeFamiTF329516

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiPLEKHA1 human
EvolutionaryTraceiQ9HB21
GeneWikiiPLEKHA1
GenomeRNAii59338
PROiPR:Q9HB21
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000107679 Expressed in 224 organ(s), highest expression level in chorionic villus
CleanExiHS_PLEKHA1
ExpressionAtlasiQ9HB21 baseline and differential
GenevisibleiQ9HB21 HS

Family and domain databases

Gene3Di2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
PfamiView protein in Pfam
PF00169 PH, 2 hits
SMARTiView protein in SMART
SM00233 PH, 2 hits
PROSITEiView protein in PROSITE
PS50003 PH_DOMAIN, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiPKHA1_HUMAN
AccessioniPrimary (citable) accession number: Q9HB21
Secondary accession number(s): B3KQ55, D3DRE2, Q9BVK0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: March 29, 2004
Last modified: November 7, 2018
This is version 146 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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