LIPID MAPS® Gene/Proteome Database (LMPD)

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LMPD Record

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LMP012377

Record overview

LMPD IDLMP012377
Gene ID729920
SpeciesHomo sapiens (Human)
Gene Nameisoprenoid synthase domain containing
Gene SymbolISPD
SynonymsNip; MDDGA7; MDDGC7; hCG_1745121;
Chromosome7
Map Location7p21.2
EC Number2.7.7.-
SummaryThis 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]
OrthologsView orthologs and multiple alignments for ISPD

Proteins

isoprenoid synthase domain-containing protein isoform a
Refseq ID:NP_001094896
Protein GI:157412259
UniProt ID:A4D126
mRNA ID:NM_001101426
Length:451
RefSeq Status:
MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYTLQALERVCWIKDIVVAVTGE
NMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLD
YSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGH
LLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKE
VKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA
 
isoprenoid synthase domain-containing protein isoform b
Refseq ID:NP_001094887
Protein GI:157671913
UniProt ID:A4D126
mRNA ID:NM_001101417
Length:401
RefSeq Status:
MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYTLQALERVCWIKDIVVAVTGE
NMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGCSDYDLEFGTECLQLALKYCCT
KAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQE
TQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLI
A