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Protein

Pleckstrin homology domain-containing family A member 1

Gene

PLEKHA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • lipid binding Source: UniProtKB-KW
  • PDZ domain binding Source: UniProtKB
  • phosphatidylinositol-3,4-bisphosphate binding Source: UniProtKB

GO - Biological processi

  • androgen metabolic process Source: Ensembl
  • B cell receptor signaling pathway Source: UniProtKB
  • cellular response to hydrogen peroxide Source: UniProtKB
  • establishment of protein localization Source: UniProtKB
  • estrogen metabolic process Source: Ensembl
  • face morphogenesis Source: Ensembl
  • Leydig cell differentiation Source: Ensembl
  • luteinization Source: Ensembl
  • multicellular organism growth Source: Ensembl
  • negative regulation of protein kinase B signaling Source: UniProtKB
  • palate development Source: Ensembl
  • phosphatidylinositol 3-kinase signaling Source: UniProtKB
  • platelet-derived growth factor receptor signaling pathway Source: Ensembl
  • post-embryonic development Source: Ensembl
  • ruffle organization Source: UniProtKB
  • skeletal system morphogenesis Source: Ensembl
  • spermatogenesis Source: Ensembl
Complete GO annotation...

Keywords - Ligandi

Lipid-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

HGNCiHGNC:14335. PLEKHA1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • nucleoplasm Source: HPA
  • plasma membrane Source: UniProtKB
  • ruffle membrane Source: UniProtKB
Complete GO annotation...

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.

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.

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.
CleanExiHS_PLEKHA1.
ExpressionAtlasiQ9HB21. baseline and differential.
GenevisibleiQ9HB21. HS.

Organism-specific databases

HPAiHPA002043.

Interactioni

Subunit structurei

Interacts with MPDZ and PTPN13.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
MPDZO759706EBI-2652984,EBI-821405
SH3BP4Q9P0V32EBI-2652984,EBI-1049513

GO - Molecular functioni

  • PDZ domain binding Source: UniProtKB

Protein-protein interaction databases

BioGridi121880. 14 interactors.
IntActiQ9HB21. 9 interactors.
MINTiMINT-275100.
STRINGi9606.ENSP00000357986.

Structurei

Secondary structure

1404
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi193 – 201Combined sources9
Turni203 – 205Combined sources3
Beta strandi208 – 215Combined sources8
Beta strandi217 – 225Combined sources9
Beta strandi232 – 236Combined sources5
Helixi237 – 239Combined sources3
Beta strandi242 – 245Combined sources4
Helixi249 – 252Combined sources4
Beta strandi255 – 261Combined sources7
Beta strandi266 – 270Combined sources5
Helixi274 – 290Combined sources17

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...

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.

Sequence similaritiesi

Contains 2 PH domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IF2M. Eukaryota.
ENOG410ZQEQ. LUCA.
GeneTreeiENSGT00440000037398.
HOGENOMiHOG000116175.
HOVERGENiHBG053612.
InParanoidiQ9HB21.
OMAiNPCIQRS.
OrthoDBiEOG091G08U3.
PhylomeDBiQ9HB21.
TreeFamiTF329516.

Family and domain databases

Gene3Di2.30.29.30. 2 hits.
InterProiIPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00169. PH. 2 hits.
[Graphical view]
SMARTiSM00233. PH. 2 hits.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 2 hits.
PROSITEiPS50003. PH_DOMAIN. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024562320T → A.2 PublicationsCorresponds to variant rs1045216dbSNPEnsembl.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, BX842242 Genomic DNA. Translation: CAI23597.1.
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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF286160 mRNA. Translation: AAG15197.1.
AK057463 mRNA. Translation: BAG51917.1.
BX664700, BX842242 Genomic DNA. Translation: CAI23597.1.
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. 14 interactors.
IntActiQ9HB21. 9 interactors.
MINTiMINT-275100.
STRINGi9606.ENSP00000357986.

PTM databases

iPTMnetiQ9HB21.
PhosphoSitePlusiQ9HB21.

Polymorphism and mutation databases

BioMutaiPLEKHA1.
DMDMi48474647.

Proteomic databases

EPDiQ9HB21.
MaxQBiQ9HB21.
PaxDbiQ9HB21.
PeptideAtlasiQ9HB21.
PRIDEiQ9HB21.

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.
GeneCardsiPLEKHA1.
HGNCiHGNC:14335. PLEKHA1.
HPAiHPA002043.
MalaCardsiPLEKHA1.
MIMi607772. gene.
neXtProtiNX_Q9HB21.
OpenTargetsiENSG00000107679.
PharmGKBiPA33401.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF2M. Eukaryota.
ENOG410ZQEQ. LUCA.
GeneTreeiENSGT00440000037398.
HOGENOMiHOG000116175.
HOVERGENiHBG053612.
InParanoidiQ9HB21.
OMAiNPCIQRS.
OrthoDBiEOG091G08U3.
PhylomeDBiQ9HB21.
TreeFamiTF329516.

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiPLEKHA1. human.
EvolutionaryTraceiQ9HB21.
GeneWikiiPLEKHA1.
GenomeRNAii59338.
PROiQ9HB21.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000107679.
CleanExiHS_PLEKHA1.
ExpressionAtlasiQ9HB21. baseline and differential.
GenevisibleiQ9HB21. HS.

Family and domain databases

Gene3Di2.30.29.30. 2 hits.
InterProiIPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00169. PH. 2 hits.
[Graphical view]
SMARTiSM00233. PH. 2 hits.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 2 hits.
PROSITEiPS50003. PH_DOMAIN. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPKHA1_HUMAN
AccessioniPrimary (citable) accession number: Q9HB21
Secondary accession number(s): B3KQ55, D3DRE2, Q9BVK0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: March 29, 2004
Last modified: November 30, 2016
This is version 132 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 10
    Human chromosome 10: 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.