Version 5.4
Homo sapiens Protein: ISPD
Summary
InnateDB Protein IDBP-230936.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ISPD
Protein Name isoprenoid synthase domain containing
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000382249
InnateDB Gene IDBG-230934 (ISPD)
Protein Structure
UniProt Annotation
Function Required for protein O-linked mannosylation. Probably acts as a nucleotidyltransferase involved in synthesis of a nucleotide sugar. Required for dystroglycan O-mannosylation. {ECO:0000269PubMed:22522420, ECO:0000269PubMed:22522421}.
Subcellular Localization
Disease Associations Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269PubMed:22522420, ECO:0000269PubMed:22522421, ECO:0000269PubMed:23217329}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Ubiquitously expressed, with high expression in brain. {ECO:0000269PubMed:22522420}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0016779 nucleotidyltransferase activity
Biological Process
GO:0008299 isoprenoid biosynthetic process
GO:0035269 protein O-linked mannosylation
Cellular Component
Protein Structure and Domains
PDB ID
InterPro IPR001228 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase
IPR029044 Nucleotide-diphospho-sugar transferases
PFAM PF01128
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt A4D126
PhosphoSite PhosphoSite-NP_001094887
TrEMBL
UniProt Splice Variant
Entrez Gene 729920
UniGene Hs.636502
RefSeq NP_001094887
HUGO HGNC:37276
OMIM 614631
CCDS
HPRD
IMGT
EMBL AC004741 AC006035 AC073629 AC079155 CH236948 CH471073
GenPept EAL24288 EAW93668

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

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Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca