LMPD Database

LMP001913

Record overview

LMPD IDLMP001913
Gene ID59338
SpeciesHomo sapiens (Human)
Gene Namepleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
Gene SymbolPLEKHA1
SynonymsTAPP1
Chromosome10
Map Location10q26.13
SummaryThis 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]
OrthologsView 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
MPYVDRQNRICGFLDIEENENSGKFLRRYFILDTREDSFVWYMDNPQNLPSGSSRVGAIKLTYISKVSDATKLRPKAEFCFVMNAGMRKYFLQANDQQDL
VEWVNVLNKAIKITVPKQSDSQPNSDNLSRHGECGKKQVSYRTDIVGGVPIITPTQKEEVNECGESIDRNNLKRSQSHLPYFTPKPPQDSAVIKAGYCVK
QGAVMKNWKRRYFQLDENTIGYFKSELEKEPLRVIPLKEVHKVQECKQSDIMMRDNLFEIVTTSRTFYVQADSPEEMHSWIKAVSGAIVAQRGPGRSASS
EHPPGPSESKHAFRPTNAATATSHSTASRSNSLVSTFTMEKRGFYESLAKVKPGNFKVQTVSPREPASKVTEQALLRPQSKNGPQEKDCDLVDLDDASLP
VSDV
 
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
MPYVDRQNRICGFLDIEENENSGKFLRRYFILDTREDSFVWYMDNPQNLPSGSSRVGAIKLTYISKVSDATKLRPKAEFCFVMNAGMRKYFLQANDQQDL
VEWVNVLNKAIKITVPKQSDSQPNSDNLSRHGECGKKQVSYRTDIVGGVPIITPTQKEEVNECGESIDRNNLKRSQSHLPYFTPKPPQDSAVIKAGYCVK
QGAVMKNWKRRYFQLDENTIGYFKSELEKEPLRVIPLKEVHKVQECKQSDIMMRDNLFEIVTTSRTFYVQADSPEEMHSWIKAVSGAIVAQRGPGRSASS
MRQARRLSNPCIQRYTSRAGECSTYVGSHANVPS