Human Gene ISPD (uc010ktx.2) Description and Page Index
Description: Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant 1, mRNA. RefSeq Summary (NM_001101426): 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]. Transcript (Including UTRs) Position: hg19 chr7:16,127,152-16,460,947 Size: 333,796 Total Exon Count: 10 Strand: - Coding Region Position: hg19 chr7:16,131,320-16,460,947 Size: 329,628 Coding Exon Count: 10
ID:ISPD_HUMAN DESCRIPTION: RecName: Full=Isoprenoid synthase domain-containing protein; EC=2.7.7.-; AltName: Full=2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein; FUNCTION: Required for protein O-linked mannosylation. Probably acts as a nucleotidyltransferase involved in synthesis of a nucleotide sugar. Required for dystroglycan O-mannosylation. PATHWAY: Protein modification; protein glycosylation. TISSUE SPECIFICITY: Ubiquitously expressed, with high expression in brain. DISEASE: Defects in ISPD are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A7 (MDDGA7) [MIM:614643]. MDDGA7 is 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. SIMILARITY: Belongs to the IspD family. SEQUENCE CAUTION: Sequence=EAL24288.1; Type=Erroneous gene model prediction;
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): ISPD CDC HuGE Published Literature: ISPD
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on A4D126
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.