Homo sapiens Gene: ISPD
Summary
InnateDB Gene IDBG-230934.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ISPD
Gene Name isoprenoid synthase domain containing
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000214960
Encoded Proteins
isoprenoid synthase domain containing
isoprenoid synthase domain containing
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:16091192-16421322
Strand Reverse strand
Band p21.2
Transcripts
ENST00000399310 ENSP00000382249
ENST00000407010 ENSP00000385478
ENST00000479493
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:0006486 protein glycosylation
GO:0007411 axon guidance
GO:0008299 isoprenoid biosynthetic process
GO:0035269 protein O-linked mannosylation
Cellular Component
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt A4D126
TrEMBL
UniProt Splice Variant
Entrez Gene 729920
UniGene Hs.636502
RefSeq NM_001101417 NM_001101426
HUGO HGNC:37276
OMIM 614631
CCDS
HPRD
IMGT
EMBL AC004741 AC006035 AC073629 AC079155 CH236948 CH471073
GenPept EAL24288 EAW93668
RNA Seq Atlas 729920