PLEKHA1 - pleckstrin homology domain containing A1 Gene

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

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

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