Gene/Proteome Database (LMPD)

LMPD ID
LMP001913
Gene ID
59338
Species
Homo sapiens (Human)
Gene Name
pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
Gene Symbol
PLEKHA1
Synonyms
TAPP1
Chromosome
10
Map Location
10q26.13
Summary
This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]
Orthologs
View orthologs and multiple alignments for PLEKHA1

Proteins

pleckstrin homology domain-containing family A member 1 isoform 1
Refseq ID NP_067635
Protein GI 31377720
UniProt ID Q9HB21
mRNA ID NM_021622
Length 404
RefSeq Status REVIEWED
MPYVDRQNRICGFLDIEENENSGKFLRRYFILDTREDSFVWYMDNPQNLPSGSSRVGAIKLTYISKVSDATKLRPKAEFCFVMNAGMRKYFLQANDQQDLVEWVNVLNKAIKITVPKQSDSQPNSDNLSRHGECGKKQVSYRTDIVGGVPIITPTQKEEVNECGESIDRNNLKRSQSHLPYFTPKPPQDSAVIKAGYCVKQGAVMKNWKRRYFQLDENTIGYFKSELEKEPLRVIPLKEVHKVQECKQSDIMMRDNLFEIVTTSRTFYVQADSPEEMHSWIKAVSGAIVAQRGPGRSASSEHPPGPSESKHAFRPTNAATATSHSTASRSNSLVSTFTMEKRGFYESLAKVKPGNFKVQTVSPREPASKVTEQALLRPQSKNGPQEKDCDLVDLDDASLPVSDV
pleckstrin homology domain-containing family A member 1 isoform 1
Refseq ID NP_001001974
Protein GI 50234893
UniProt ID Q9HB21
mRNA ID NM_001001974
Length 404
RefSeq Status REVIEWED
Protein sequence is identical to GI:31377720 (mRNA isoform)
pleckstrin homology domain-containing family A member 1 isoform 2
Refseq ID NP_001182537
Protein GI 307344641
UniProt ID Q9HB21
mRNA ID NM_001195608
Length 334
RefSeq Status REVIEWED
MPYVDRQNRICGFLDIEENENSGKFLRRYFILDTREDSFVWYMDNPQNLPSGSSRVGAIKLTYISKVSDATKLRPKAEFCFVMNAGMRKYFLQANDQQDLVEWVNVLNKAIKITVPKQSDSQPNSDNLSRHGECGKKQVSYRTDIVGGVPIITPTQKEEVNECGESIDRNNLKRSQSHLPYFTPKPPQDSAVIKAGYCVKQGAVMKNWKRRYFQLDENTIGYFKSELEKEPLRVIPLKEVHKVQECKQSDIMMRDNLFEIVTTSRTFYVQADSPEEMHSWIKAVSGAIVAQRGPGRSASSMRQARRLSNPCIQRYTSRAGECSTYVGSHANVPS

Gene Information

Entrez Gene ID
59338
Gene Name
pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
Gene Symbol
PLEKHA1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005737 IDA:UniProtKB C cytoplasm
GO:0070062 IDA:UniProt C extracellular vesicular exosome
GO:0005634 IDA:HPA C nucleus
GO:0005886 IDA:UniProtKB C plasma membrane
GO:0032587 IDA:UniProtKB C ruffle membrane
GO:0030165 IPI:UniProtKB F PDZ domain binding
GO:0043325 IDA:UniProtKB F phosphatidylinositol-3,4-bisphosphate binding
GO:0008209 IEA:Ensembl P androgen metabolic process
GO:0050853 IDA:UniProtKB P B cell receptor signaling pathway
GO:0070301 IDA:UniProtKB P cellular response to hydrogen peroxide
GO:0045184 IDA:UniProtKB P establishment of protein localization
GO:0008210 IEA:Ensembl P estrogen metabolic process
GO:0060325 IEA:Ensembl P face morphogenesis
GO:0033327 IEA:Ensembl P Leydig cell differentiation
GO:0001553 IEA:Ensembl P luteinization
GO:0035264 IEA:Ensembl P multicellular organism growth
GO:0051898 IMP:UniProtKB P negative regulation of protein kinase B signaling
GO:0060021 IEA:Ensembl P palate development
GO:0014065 IDA:UniProtKB P phosphatidylinositol 3-kinase signaling
GO:0048008 IEA:Ensembl P platelet-derived growth factor receptor signaling pathway
GO:0009791 IEA:Ensembl P post-embryonic development
GO:0031529 IDA:UniProtKB P ruffle organization
GO:0048705 IEA:Ensembl P skeletal system morphogenesis
GO:0007283 IEA:Ensembl P spermatogenesis

Domain Information

InterPro Annotations

Accession Description
IPR001849 Pleckstrin homology domain
IPR011993 Pleckstrin homology-like domain

UniProt Annotations

Entry Information

Gene Name
pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
Protein Entry
PKHA1_HUMAN
UniProt ID
Q9HB21
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9HB21-1; Sequence=Displayed; Name=2; IsoId=Q9HB21-2; Sequence=VSP_043091; Note=No experimental confirmation available.;
Domain Binds to membranes enriched in PtdIns3,4P2 via the C- terminal PH domain.
Function Binds specifically to phosphatidylinositol 3,4- diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane. {ECO
Interaction O75970:MPDZ; NbExp=6; IntAct=EBI-2652984, EBI-821405; Q9P0V3:SH3BP4; NbExp=2; IntAct=EBI-2652984, EBI-1049513;
Similarity Contains 2 PH domains. {ECO
Subcellular Location Cytoplasm. Cell membrane; Peripheral membrane protein. Nucleus. Note=Locates to the plasma membrane after treatments that stimulate the production of PtdIns3,4P2.
Subunit Interacts with MPDZ and PTPN13.
Tissue Specificity 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.

Identical and Related Proteins

Unique RefSeq proteins for LMP001913 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
31377720 RefSeq NP_067635 404 pleckstrin homology domain-containing family A member 1 isoform 1
307344641 RefSeq NP_001182537 334 pleckstrin homology domain-containing family A member 1 isoform 2

Identical Sequences to LMP001913 proteins

Reference Database Accession Length Protein Name
GI:307344641 GenBank JAA34027.1 334 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 [Pan troglodytes]
GI:31377720 GenBank AHD73288.1 404 Sequence 10356 from patent US 8586006
GI:31377720 GenBank AHD73289.1 404 Sequence 10357 from patent US 8586006
GI:31377720 GenBank AIC52062.1 404 PLEKHA1, partial [synthetic construct]
GI:31377720 RefSeq XP_005270073.1 404 PREDICTED: pleckstrin homology domain-containing family A member 1 isoform X1 [Homo sapiens]
GI:31377720 RefSeq XP_005270074.1 404 PREDICTED: pleckstrin homology domain-containing family A member 1 isoform X2 [Homo sapiens]
GI:31377720 RefSeq XP_005270075.1 404 PREDICTED: pleckstrin homology domain-containing family A member 1 isoform X3 [Homo sapiens]
GI:307344641 RefSeq XP_005270078.1 334 PREDICTED: pleckstrin homology domain-containing family A member 1 isoform X6 [Homo sapiens]
GI:307344641 RefSeq XP_008949263.1 334 PREDICTED: pleckstrin homology domain-containing family A member 1 isoform X4 [Pan paniscus]
GI:307344641 RefSeq XP_009244135.1 334 PREDICTED: pleckstrin homology domain-containing family A member 1 isoform X3 [Pongo abelii]
GI:307344641 RefSeq XP_009244136.1 334 PREDICTED: pleckstrin homology domain-containing family A member 1 isoform X3 [Pongo abelii]
GI:307344641 RefSeq XP_009457672.1 334 PREDICTED: pleckstrin homology domain-containing family A member 1 isoform X4 [Pan troglodytes]

Related Sequences to LMP001913 proteins

Reference Database Accession Length Protein Name
GI:31377720 GenBank JAA06193.1 404 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 [Pan troglodytes]
GI:31377720 GenBank JAA23015.1 404 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 [Pan troglodytes]
GI:31377720 GenBank JAA34028.1 404 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 [Pan troglodytes]
GI:307344641 RefSeq XP_005566701.1 334 PREDICTED: pleckstrin homology domain-containing family A member 1 isoform X11 [Macaca fascicularis]
GI:307344641 RefSeq XP_005566702.1 334 PREDICTED: pleckstrin homology domain-containing family A member 1 isoform X12 [Macaca fascicularis]
GI:307344641 RefSeq XP_008068295.1 334 PREDICTED: pleckstrin homology domain-containing family A member 1 isoform X3 [Tarsius syrichta]
GI:307344641 RefSeq XP_008977085.1 334 PREDICTED: pleckstrin homology domain-containing family A member 1 [Callithrix jacchus]
GI:307344641 RefSeq XP_009213802.1 334 PREDICTED: pleckstrin homology domain-containing family A member 1 isoform X6 [Papio anubis]
GI:31377720 RefSeq XP_009244130.1 404 PREDICTED: pleckstrin homology domain-containing family A member 1 isoform X1 [Pongo abelii]
GI:31377720 RefSeq XP_009244131.1 404 PREDICTED: pleckstrin homology domain-containing family A member 1 isoform X1 [Pongo abelii]
GI:31377720 RefSeq XP_009244132.1 404 PREDICTED: pleckstrin homology domain-containing family A member 1 isoform X1 [Pongo abelii]
GI:307344641 RefSeq XP_010355598.1 334 PREDICTED: pleckstrin homology domain-containing family A member 1 isoform X4 [Rhinopithecus roxellana]