2. Gene
  3. PLEKHA1 - pleckstrin homology domain containing A1 Gene

PLEKHA1 - pleckstrin homology domain containing A1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as TAPP1

Gene ID: 59338 | Gene type: protein coding

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

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

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