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Aliases for ISPD Gene

Aliases for ISPD Gene

  • Isoprenoid Synthase Domain Containing 2 3
  • 2-C-Methyl-D-Erythritol 4-Phosphate Cytidylyltransferase-Like Protein 3 4
  • Notch1-Induced Protein 2 3
  • MDDGA7 3 6
  • 4-Diphosphocytidyl-2C-Methyl-D-Erythritol Synthase Homolog (Arabidopsis) 2
  • 4-Diphosphocytidyl-2C-Methyl-D-Erythritol Synthase Homolog 3
  • Isoprenoid Synthase Domain-Containing Protein 3
  • HCG_1745121 3
  • EC 2.7.7.- 4
  • MDDGC7 3
  • NIP 3

External Ids for ISPD Gene

Summaries for ISPD Gene

Entrez Gene Summary for ISPD Gene

  • 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]

GeneCards Summary for ISPD Gene

ISPD (Isoprenoid Synthase Domain Containing) is a Protein Coding gene. Diseases associated with ISPD include ispd-related muscle diseases and muscular dystrophy-dystroglycanopathy , type a, 7. GO annotations related to this gene include nucleotidyltransferase activity.

UniProtKB/Swiss-Prot for ISPD Gene

  • Required for protein O-linked mannosylation. Probably acts as a nucleotidyltransferase involved in synthesis of a nucleotide sugar. Required for dystroglycan O-mannosylation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ISPD Gene

Genomics for ISPD Gene

Genomic Location for ISPD Gene

Start:
16,087,527 bp from pter
End:
16,421,322 bp from pter
Size:
333,796 bases
Orientation:
Minus strand

Genomic View for ISPD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ISPD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ISPD Gene

No data available for Regulatory Elements for ISPD Gene

Proteins for ISPD Gene

  • Protein details for ISPD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A4D126-ISPD_HUMAN
    Recommended name:
    Isoprenoid synthase domain-containing protein
    Protein Accession:
    A4D126
    Secondary Accessions:
    • A8MU35
    • H9KVB2

    Protein attributes for ISPD Gene

    Size:
    451 amino acids
    Molecular mass:
    49873 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=EAL24288.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ISPD Gene

    Alternative splice isoforms for ISPD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ISPD Gene

Proteomics data for ISPD Gene at MOPED

Post-translational modifications for ISPD Gene

No Post-translational modifications

Other Protein References for ISPD Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ISPD Gene

Domains for ISPD Gene

Protein Domains for ISPD Gene

UniProtKB/Swiss-Prot:

ISPD_HUMAN
Family:
  • Belongs to the IspD family.:
    • A4D126
genes like me logo Genes that share domains with ISPD: view

No data available for Gene Families for ISPD Gene

Function for ISPD Gene

Molecular function for ISPD Gene

UniProtKB/Swiss-Prot Function: Required for protein O-linked mannosylation. Probably acts as a nucleotidyltransferase involved in synthesis of a nucleotide sugar. Required for dystroglycan O-mannosylation.

Enzyme Numbers (IUBMB) for ISPD Gene

Gene Ontology (GO) - Molecular Function for ISPD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0016779 nucleotidyltransferase activity --
GO:0050518 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase activity IEA --
genes like me logo Genes that share ontologies with ISPD: view
genes like me logo Genes that share phenotypes with ISPD: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ISPD Gene

Localization for ISPD Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ISPD Gene COMPARTMENTS Subcellular localization image for ISPD gene
Compartment Confidence
cytosol 2
extracellular 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for ISPD Gene

Pathways for ISPD Gene

SuperPathways for ISPD Gene

No Data Available

UniProtKB/Swiss-Prot A4D126-ISPD_HUMAN

  • Pathway: Protein modification; protein glycosylation

Interacting Proteins for ISPD Gene

Gene Ontology (GO) - Biological Process for ISPD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation --
GO:0007411 axon guidance IEA --
GO:0008299 isoprenoid biosynthetic process IEA --
GO:0035269 protein O-linked mannosylation IMP 22522420
genes like me logo Genes that share ontologies with ISPD: view

No data available for Pathways by source for ISPD Gene

Transcripts for ISPD Gene

mRNA/cDNA for ISPD Gene

(18) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ISPD Gene

Isoprenoid synthase domain containing:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ISPD Gene

No ASD Table

Relevant External Links for ISPD Gene

GeneLoc Exon Structure for
ISPD
ECgene alternative splicing isoforms for
ISPD

Expression for ISPD Gene

mRNA expression in normal human tissues for ISPD Gene

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for ISPD Gene

SOURCE GeneReport for Unigene cluster for ISPD Gene Hs.636502

mRNA Expression by UniProt/SwissProt for ISPD Gene

A4D126-ISPD_HUMAN
Tissue specificity: Ubiquitously expressed, with high expression in brain.
genes like me logo Genes that share expressions with ISPD: view

Orthologs for ISPD Gene

This gene was present in the common ancestor of chordates.

Orthologs for ISPD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ISPD 36
  • 99.56 (n)
  • 99.33 (a)
ISPD 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ISPD 36
  • 86.82 (n)
  • 82.02 (a)
ISPD 37
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ISPD 36
  • 87.66 (n)
  • 84.38 (a)
ISPD 37
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ispd 36
  • 78.45 (n)
  • 74.72 (a)
Ispd 16
Ispd 37
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ISPD 37
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ISPD 37
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ispd 36
  • 77.93 (n)
  • 73.15 (a)
chicken
(Gallus gallus)
Aves ISPD 36
  • 68.92 (n)
  • 61.35 (a)
ISPD 37
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ISPD 37
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ispd 36
  • 65.12 (n)
  • 60.38 (a)
zebrafish
(Danio rerio)
Actinopterygii ispd 36
  • 55.63 (n)
  • 49.76 (a)
ispd 37
  • 46 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 43 (a)
OneToOne
Species with no ortholog for ISPD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ISPD Gene

ENSEMBL:
Gene Tree for ISPD (if available)
TreeFam:
Gene Tree for ISPD (if available)

Paralogs for ISPD Gene

Pseudogenes.org Pseudogenes for ISPD Gene

genes like me logo Genes that share paralogs with ISPD: view

No data available for Paralogs for ISPD Gene

Variants for ISPD Gene

Sequence variations from dbSNP and Humsavar for ISPD Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs307156 -- 16,380,720(+) ttggg(A/G)gagtg intron-variant
rs307157 -- 16,380,802(+) tctga(C/T)ggtag intron-variant
rs307158 -- 16,381,041(+) ttgaa(C/T)gtgtt intron-variant
rs414551 -- 16,381,165(+) gaatg(C/T)atccc intron-variant
rs725706 -- 16,117,346(+) ACGTA(G/T)TCATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ISPD Gene

Variant ID Type Subtype PubMed ID
esv2734048 CNV Deletion 23290073
nsv511373 CNV Loss 21212237
nsv820033 CNV Loss 19587683
nsv511950 CNV Loss 21212237
esv5024 CNV Deletion 18987735
esv2734049 CNV Deletion 23290073
nsv366243 CNV Loss 16902084
esv9042 CNV Loss 19470904
nsv821416 CNV Deletion 20802225
dgv1092n67 CNV Loss 20364138
esv24769 CNV Gain+Loss 19812545
dgv7214n71 CNV Loss 21882294
essv6089 CNV CNV 17122850
dgv2064e1 CNV Complex 17122850
esv2662783 CNV Deletion 23128226
esv2734050 CNV Deletion 23290073
esv2659119 CNV Deletion 23128226
esv34298 CNV Loss 17911159
nsv887742 CNV Loss 21882294
nsv470133 CNV Loss 18288195
esv2734052 CNV Deletion 23290073
nsv887743 CNV Loss 21882294
esv2734053 CNV Deletion 23290073
esv273269 CNV Insertion 20981092
dgv2065e1 CNV Complex 17122850
essv6861 CNV CNV 17122850
dgv7215n71 CNV Loss 21882294
nsv8061 CNV Loss 18304495
nsv442031 CNV CNV 18776908
dgv1185e199 CNV Deletion 23128226
esv2734054 CNV Deletion 23290073
nsv818488 CNV Loss 17921354
nsv523384 CNV Loss 19592680
dgv224e55 CNV Loss 17911159
nsv514407 CNV Loss 21397061
nsv508447 CNV Loss 20534489
nsv464393 CNV Loss 19166990
nsv464396 CNV Loss 19166990
nsv5645 CNV Insertion 18451855
esv2734055 CNV Deletion 23290073
nsv523408 CNV Loss 19592680
nsv517363 CNV Loss 19592680
esv2658278 CNV Deletion 23128226
esv2661402 CNV Deletion 23128226

Relevant External Links for ISPD Gene

HapMap Linkage Disequilibrium report
ISPD
Human Gene Mutation Database (HGMD)
ISPD
Locus Specific Mutation Databases (LSDB)
ISPD

Disorders for ISPD Gene

(1) OMIM Diseases for ISPD Gene (614631)

UniProtKB/Swiss-Prot

ISPD_HUMAN
  • 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.
  • Muscular dystrophy-dystroglycanopathy limb-girdle C7 (MDDGC7) [MIM:616052]: A form of muscular dystrophy resulting from defective glycosylation of alpha-dystroglycan, and characterized by a limb-girdle phenotype with muscular weakness apparent after ambulation is achieved. MDDGC7 individuals do not show epilepsy, mental retardation, structural eye/brain abnormalities, or white matter changes. {ECO:0000269 PubMed:23390185}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for ISPD Gene

Relevant External Links for ISPD

Genetic Association Database (GAD)
ISPD
Human Genome Epidemiology (HuGE) Navigator
ISPD
genes like me logo Genes that share disorders with ISPD: view

Publications for ISPD Gene

  1. The sequence of the human genome. (PMID: 11181995) Venter J.C. … Zhu X. (Science 2001) 2 3
  2. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 49
  5. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. (PMID: 22522420) Willer T. … Campbell K.P. (Nat. Genet. 2012) 3 4

Products for ISPD Gene

Sources for ISPD Gene

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