LIPID MAPS

LMPD ID

LMP012377

Gene ID

729920

Species

Homo sapiens (Human)

Gene Name

isoprenoid synthase domain containing

Gene Symbol

ISPD

Synonyms

Nip; MDDGA7; MDDGC7; hCG_1745121;

Chromosome

7

Map Location

7p21.2

EC Number

2.7.7.-

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]

Orthologs

View orthologs and multiple alignments for ISPD

isoprenoid synthase domain-containing protein isoform a
Refseq ID	NP_001094896
Protein GI	157412259
UniProt ID	A4D126
mRNA ID	NM_001101426
Length	451
MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYTLQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEAYQQCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA

isoprenoid synthase domain-containing protein isoform b
Refseq ID	NP_001094887
Protein GI	157671913
UniProt ID	A4D126
mRNA ID	NM_001101417
Length	401
MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERPLISYTLQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLIA

Entrez Gene ID

729920

Gene Name

isoprenoid synthase domain containing

Gene Symbol

ISPD

Species

Homo sapiens

Gene Ontology (GO Annotations)

GO ID	Source	Type	Description
GO:0016779	IEA:UniProtKB-KW	F	nucleotidyltransferase activity
GO:0007411	IEA:Ensembl	P	axon guidance
GO:0008299	IEA:InterPro	P	isoprenoid biosynthetic process
GO:0035269	IMP:UniProtKB	P	protein O-linked mannosylation

InterPro Annotations

Accession	Description
IPR001228	2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase
IPR018294	4-diphosphocytidyl-2C-methyl-D-erythritol synthase, conserved site
IPR029044	Nucleotide-diphospho-sugar transferases

Entry Information

Gene Name

isoprenoid synthase domain containing

UniProt ID

A4D126

Species

Human

Comments

Comment Type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=A4D126-1; Sequence=Displayed; Name=2; IsoId=A4D126-2; Sequence=VSP_044044; Note=No experimental confirmation available.;
Disease	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:0000269\|PubMed:22522420, ECO:0000269\|PubMed:22522421, ECO:0000269\|PubMed:23217329}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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.
Sequence Caution	Sequence=EAL24288.1; Type=Erroneous gene model prediction; Evidence= ;
Similarity	Belongs to the IspD family
Tissue Specificity	Ubiquitously expressed, with high expression in brain

Unique RefSeq proteins for LMP012377 (as displayed in Record Overview)

Protein GI	Database	Accession	Length	Protein Name
157412259	RefSeq	NP_001094896	451	isoprenoid synthase domain-containing protein isoform a
157671913	RefSeq	NP_001094887	401	isoprenoid synthase domain-containing protein isoform b