Homo sapiens Gene: IMPAD1
Summary
InnateDB Gene IDBG-22591.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol IMPAD1
Gene Name inositol monophosphatase domain containing 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000104331
Encoded Proteins
inositol monophosphatase domain containing 1
inositol monophosphatase domain containing 1
inositol monophosphatase domain containing 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:56957933-56993844
Strand Reverse strand
Band q12.1
Transcripts
ENST00000262644 ENSP00000262644
ENST00000520392 ENSP00000428617
ENST00000517461 ENSP00000430185
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
Cellular Component
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
KEGG
Inositol phosphate metabolism pathway
Sulfur metabolism pathway
Phosphatidylinositol signaling system pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9NX62
TrEMBL A0A024R7W0
UniProt Splice Variant
Entrez Gene 54928
UniGene Hs.438689 Hs.602528 Hs.703549 Hs.704203 Hs.743874
RefSeq NM_017813
HUGO HGNC:26019
OMIM 614010
CCDS CCDS6169
HPRD 06531
IMGT
EMBL AK000428 AY032885 BC017797 BC067814 CH471068
GenPept AAH17797 AAH67814 AAK52336 BAA91158 EAW86789 EAW86791
RNA Seq Atlas 54928