InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IMPAD1

Summary

InnateDB Protein

IDBP-22593.6

Last Modified

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

Gene Symbol

IMPAD1

Protein Name

inositol monophosphatase domain containing 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000262644

InnateDB Gene

IDBG-22591 (IMPAD1)

Protein Structure

UniProt Annotation

Function

May play a role in the formation of skeletal elements derived through endochondral ossification, possibly by clearing adenosine 3',5'-bisphosphate produced by Golgi sulfotransferases during glycosaminoglycan sulfation. {ECO:0000250}.

Subcellular Localization

Golgi apparatus, trans-Golgi network membrane {ECO:0000269PubMed:18695242}; Single-pass type II membrane protein {ECO:0000269PubMed:18695242}.

Disease Associations

Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP) [MIM:614078]: A condition consisting of congenital joint dislocations, chondrodysplasia with short stature, micrognathia and cleft palate, and a distinctive face. {ECO:0000269PubMed:21549340}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008254	3'-nucleotidase activity
GO:0008441	3'(2'),5'-bisphosphate nucleotidase activity
GO:0008934	inositol monophosphate 1-phosphatase activity
GO:0046872	metal ion binding
GO:0052832	inositol monophosphate 3-phosphatase activity
GO:0052833	inositol monophosphate 4-phosphatase activity

Biological Process

GO:0001501	skeletal system development
GO:0001958	endochondral ossification
GO:0002063	chondrocyte development
GO:0006021	inositol biosynthetic process
GO:0009791	post-embryonic development
GO:0016311	dephosphorylation
GO:0030204	chondroitin sulfate metabolic process
GO:0042733	embryonic digit morphogenesis
GO:0046854	phosphatidylinositol phosphorylation