PLEKHA1 - pleckstrin homology domain containing A1 Gene

Also Known as TAPP1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 59338

About PLEKHA1

Cytogenetic location: 10q26.13 Genomic coordinates (GRCh38): 10:122,374,708-122,442,600 (from NCBI)

This gene has 8 transcripts (splice variants), 281 orthologues and 1 paralogue. Ubiquitous expression in skin (RPKM 23.3), lung (RPKM 17.3) and 24 other tissues.

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]

PLEKHA1 Products (30)

mRNA Protein Name
NM_001001974.4 NP_001001974.1 pleckstrin homology domain-containing family A member 1 isoform 1
NM_001195608.2 NP_001182537.1 pleckstrin homology domain-containing family A member 1 isoform 2
NM_001330178.2 NP_001317107.1 pleckstrin homology domain-containing family A member 1 isoform 3
NM_001377230.1 NP_001364159.1 pleckstrin homology domain-containing family A member 1 isoform 1
NM_001377231.1 NP_001364160.1 pleckstrin homology domain-containing family A member 1 isoform 1
NM_001377232.1 NP_001364161.1 pleckstrin homology domain-containing family A member 1 isoform 1
NM_001377234.1 NP_001364163.1 pleckstrin homology domain-containing family A member 1 isoform 1
NM_001377235.1 NP_001364164.1 pleckstrin homology domain-containing family A member 1 isoform 1
NM_001377237.1 NP_001364166.1 pleckstrin homology domain-containing family A member 1 isoform 2
NM_001377238.1 NP_001364167.1 pleckstrin homology domain-containing family A member 1 isoform 2
NM_001377240.1 NP_001364169.1 pleckstrin homology domain-containing family A member 1 isoform 3
NM_001377241.1 NP_001364170.1 pleckstrin homology domain-containing family A member 1 isoform 3
NM_001377242.1 NP_001364171.1 pleckstrin homology domain-containing family A member 1 isoform 3
NM_001377243.1 NP_001364172.1 pleckstrin homology domain-containing family A member 1 isoform 3
NM_001377244.1 NP_001364173.1 pleckstrin homology domain-containing family A member 1 isoform 3
NM_001377245.1 NP_001364174.1 pleckstrin homology domain-containing family A member 1 isoform 4
NM_001377246.1 NP_001364175.1 pleckstrin homology domain-containing family A member 1 isoform 4
NM_001377247.1 NP_001364176.1 pleckstrin homology domain-containing family A member 1 isoform 5
NM_001377248.1 NP_001364177.1 pleckstrin homology domain-containing family A member 1 isoform 6
NM_001377249.1 NP_001364178.1 pleckstrin homology domain-containing family A member 1 isoform 7
NM_001377250.1 NP_001364179.1 pleckstrin homology domain-containing family A member 1 isoform 8
NM_001377251.1 NP_001364180.1 pleckstrin homology domain-containing family A member 1 isoform 9
NM_001377252.1 NP_001364181.1 pleckstrin homology domain-containing family A member 1 isoform 10
NM_001377253.1 NP_001364182.1 pleckstrin homology domain-containing family A member 1 isoform 10
NM_001377254.1 NP_001364183.1 pleckstrin homology domain-containing family A member 1 isoform 10
NM_001377255.1 NP_001364184.1 pleckstrin homology domain-containing family A member 1 isoform 11
NM_001377256.1 NP_001364185.1 pleckstrin homology domain-containing family A member 1 isoform 12
NM_001377257.1 NP_001364186.1 pleckstrin homology domain-containing family A member 1 isoform 13
NM_001377258.1 NP_001364187.1 pleckstrin homology domain-containing family A member 1 isoform 14
NM_021622.5 NP_067635.2 pleckstrin homology domain-containing family A member 1 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables PDZ domain binding IPI
IPI: Inferred from physical interaction
11802782 GOA
enables phosphatidylinositol-3,4-bisphosphate binding IDA
IDA: Inferred from direct assay
11001876 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11802782 GOA
Biological Process GO Annotation Evidence References Source
involved in B cell receptor signaling pathway IDA
IDA: Inferred from direct assay
12101241 GOA
involved in cellular response to hydrogen peroxide IDA
IDA: Inferred from direct assay
14516276 GOA
involved in establishment of protein localization IDA
IDA: Inferred from direct assay
14516276 GOA
involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
IMP: Inferred from mutant phenotype
14516276 GOA
involved in phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
IDA: Inferred from direct assay
12101241 GOA
involved in ruffle organization IDA
IDA: Inferred from direct assay
15485858 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
12101241 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
12101241 GOA
located in ruffle membrane IDA
IDA: Inferred from direct assay
12101241 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PLEKHA1 Protein Structure

PH

PH: PH domain (18 - 112)

PH

PH: PH domain (192 - 285)

  • 0
  • 100
  • 200
  • 300
  • 404 a.a.
Protein Preferred Names Protein Names

pleckstrin homology domain-containing family A member 1

  • pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1

PLEKHA1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PLEKHA1 Q9HB21 SH3BP4 Homo sapiens Q9P0V3
Anti Tag CoIP
18654987
Intra
PLEKHA1 Q9HB21 MPDZ Homo sapiens O75970
Pull Down
11802782
Intra
PLEKHA1 Q9HB21 MPDZ Homo sapiens O75970
Anti Bait CoIP
11802782
Cross: Cross-species interaction Intra: Intraspecies interaction

PLEKHA1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82400 PLEKHA1 Antibody (YA2145) WB, IP Human
HY-P82400A PLEKHA1 Antibody (YA2145)(PBS only) WB, IP Human

Related Diseases

Diseases Alias
Macular Degeneration, Age-Related, 1

  • Macular Degeneration

  • Age-Related Macular Degeneration

  • Macular Degeneration, Age-Related

  • Age Related Macular Degeneration

  • Age Related Macular Degeneration 1

  • ARMD1

  • Senile Macular Degeneration

  • Maculopathy, Age-Related, 1

  • Macular Degeneration, Age-Related, Reduced Risk Of

  • Age Related Maculopathy 1

  • Age Related Maculopathies

  • Age Related Maculopathy

  • Senile Macular Retinal Degeneration

  • Macular Degeneration Of Retina

  • Age-Related Maculopathy

  • Amd

  • Armd

  • Age-Related Maculopathy, Susceptibility To

  • Maculopathy Age-Related

  • Macular Degeneration, Age-Related, 1, Susceptibility To

  • Maculopathy, Age-Related

  • Macular Degeneration, Age-Related, Type 1

  • Macular Degeneration, Age-Related, 2
Childhood Kidney Cell Carcinoma

  • Pediatric Renal Cell Carcinoma

  • Childhood Renal Cell Carcinoma
Degeneration Of Macula And Posterior Pole

  • Degeneration Of Macula And Posterior Pole Of Retina

  • Degeneration Of Macula Or Posterior Pole

  • Macular Degeneration Nos

  • Degenerative Disorder Of Macula

  • Drusen Macular Degeneration

  • Posterior Pole Macular Degeneration Of Eye

  • Macular Eye Degeneration

  • Macular Degeneration Of Retina, Unspecified

  • Pseudohole Degeneration Of Macula Of Retina
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10679 PLEKHA1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PLEKHA1 RGD RGD:1564153
Bos taurus PLEKHA1 VGNC VGNC:33003
Mus musculus PLEKHA1 MGD MGI:2442213
Macaca mulatta PLEKHA1 VGNC VGNC:76025
Canis familiaris PLEKHA1 VGNC VGNC:44667
Felis catus PLEKHA1 VGNC VGNC:64216
Others PLEKHA1 NCBI