InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PLEKHA1

Summary

InnateDB Gene

IDBG-91879.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PLEKHA1

Gene Name

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

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000107679

Encoded Proteins

IDBP-91881

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

IDBP-91883

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

IDBP-91885

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

IDBP-244921

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

IDBP-386419

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

IDBP-811255

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

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 10:122374696-122442602

Strand

Forward strand

Band

q26.13

Transcripts

ENST00000368990	ENSP00000357986
ENST00000368989	ENSP00000357985
ENST00000368988	ENSP00000357984
ENST00000392799	ENSP00000376547
ENST00000433307	ENSP00000394416
ENST00000494222
ENST00000463663	ENSP00000473424
ENST00000481451

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.

Experimentally validated
Total	11 [view]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0030165	PDZ domain binding
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding

Biological Process

GO:0001553	luteinization
GO:0007283	spermatogenesis
GO:0008209	androgen metabolic process
GO:0008210	estrogen metabolic process
GO:0008585	female gonad development
GO:0009791	post-embryonic development
GO:0014065	phosphatidylinositol 3-kinase signaling
GO:0031529	ruffle organization
GO:0033327	Leydig cell differentiation
GO:0035264	multicellular organism growth
GO:0045184	establishment of protein localization
GO:0048008	platelet-derived growth factor receptor signaling pathway
GO:0048705	skeletal system morphogenesis
GO:0050853	B cell receptor signaling pathway
GO:0051898	negative regulation of protein kinase B signaling
GO:0060021	palate development
GO:0060325	face morphogenesis
GO:0070301	cellular response to hydrogen peroxide

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0032587	ruffle membrane
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000040268

View Gene Order

ENSBTAG00000004636

Not yet available

Pathways

NETPATH

NetPath_12

BCR pathway

REACTOME

KEGG

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.643512 Hs.715965

RefSeq

NM_001001974 NM_001195608 NM_021622 XM_005270016 XM_005270017 XM_005270018 XM_005270020 XM_005270021

HUGO

OMIM

CCDS

CCDS55730 CCDS7629

HPRD

09686

IMGT

EMBL

GenPept

RNA Seq Atlas