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Aliases for ISPD Gene

Aliases for ISPD Gene

  • Isoprenoid Synthase Domain Containing 2 3 5
  • 2-C-Methyl-D-Erythritol 4-Phosphate Cytidylyltransferase-Like Protein 3 4
  • Notch1-Induced Protein 2 3
  • 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
  • Testicular Tissue Protein Li 97 3
  • HCG_1745121 3
  • EC 2.7.7.- 4
  • MDDGC7 3
  • MDDGA7 3
  • NIP 3

External Ids for ISPD Gene

Previous GeneCards Identifiers for ISPD Gene

  • GC07M016098

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 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 and Muscular Dystrophy-Dystroglycanopathy , Type A, 7. Among its related pathways are Porphyrin and chlorophyll metabolism and Mannose type O-glycan biosynthesis. GO annotations related to this gene include nucleotidyltransferase activity and 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase 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

Regulatory Elements for ISPD Gene

Enhancers for ISPD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F016345 0.8 Ensembl ENCODE 4.7 +183.5 183501 2.9 ESRRA ZNF175 KLF4 ARID1B MEF2D RUNX1 IKZF1 PBX2 MLLT1 NFE2 ISPD GC07M016323 GC07M016295
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ISPD on UCSC Golden Path with GeneCards custom track

Genomic Location for ISPD Gene

Chromosome:
7
Start:
15,916,851 bp from pter
End:
16,530,558 bp from pter
Size:
613,708 bases
Orientation:
Minus strand

Genomic View for ISPD Gene

Genes around ISPD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ISPD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ISPD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for ISPD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ISPD Gene

Domains & Families for ISPD Gene

Protein Domains for ISPD Gene

Suggested Antigen Peptide Sequences for ISPD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A4D126

UniProtKB/Swiss-Prot:

ISPD_HUMAN :
  • Belongs to the IspD/TarI cytidylyltransferase family. IspD subfamily.
Family:
  • Belongs to the IspD/TarI cytidylyltransferase family. IspD subfamily.
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:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
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

Human Phenotype Ontology for ISPD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets 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
plasma membrane 2
chloroplast 1
extracellular 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ISPD Gene

Pathways & Interactions for ISPD Gene

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

Pathways by source for ISPD Gene

UniProtKB/Swiss-Prot A4D126-ISPD_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for ISPD Gene

Selected Interacting proteins: A4D126-ISPD_HUMAN for ISPD Gene via IID

Symbol External ID(s) Details
YWHAE

Gene Ontology (GO) - Biological Process for ISPD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
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 SIGNOR curated interactions for ISPD Gene

Transcripts for ISPD Gene

mRNA/cDNA for ISPD Gene

(12) 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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for ISPD Gene

Protein differential expression in normal tissues from HIPED for ISPD Gene

This gene is overexpressed in Placenta (20.4), Fetal Brain (14.5), and Stomach (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ISPD Gene



NURSA nuclear receptor signaling pathways regulating expression of ISPD Gene:

ISPD

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 expression patterns with ISPD: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for ISPD Gene

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 34 35
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia ISPD 34 35
  • 87.66 (n)
cow
(Bos Taurus)
Mammalia ISPD 34 35
  • 86.82 (n)
mouse
(Mus musculus)
Mammalia Ispd 34 16 35
  • 78.45 (n)
rat
(Rattus norvegicus)
Mammalia Ispd 34
  • 77.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ISPD 35
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ISPD 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves ISPD 34 35
  • 68.92 (n)
lizard
(Anolis carolinensis)
Reptilia ISPD 35
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ispd 34
  • 65.12 (n)
zebrafish
(Danio rerio)
Actinopterygii ispd 34 35
  • 55.63 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
OneToOne
Species where no ortholog for ISPD was found in the sources mined by GeneCards:
  • 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
rs387907160 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643], Pathogenic 16,376,129(-) CCAAG(A/C)TTTTC intron-variant, nc-transcript-variant, reference, missense
rs387907162 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643], Pathogenic 16,406,231(-) TCGAA(C/G)CTGGA nc-transcript-variant, reference, missense
rs397514547 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643], Pathogenic 16,406,129(-) TCCAT(A/C/G)ATGCT nc-transcript-variant, reference, missense
rs397515408 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643], Pathogenic 16,376,138(-) TGAAA(G/T)GCCCC intron-variant, nc-transcript-variant, reference, missense
rs397515409 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643], Pathogenic 16,308,599(-) TGGAA(C/G/T)TGAGT intron-variant, nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1092n67 CNV loss 20364138
dgv11220n54 CNV loss 21841781
dgv11221n54 CNV loss 21841781
dgv11222n54 CNV loss 21841781
dgv1185e199 CNV deletion 23128226
dgv1272e214 CNV loss 21293372
dgv224e55 CNV loss 17911159
dgv3501n106 CNV deletion 24896259
dgv3502n106 CNV duplication 24896259
dgv3748e59 CNV duplication 20981092
dgv6289n100 CNV gain 25217958
esv24769 CNV gain+loss 19812545
esv2658278 CNV deletion 23128226
esv2659119 CNV deletion 23128226
esv2661402 CNV deletion 23128226
esv2662783 CNV deletion 23128226
esv2734048 CNV deletion 23290073
esv2734049 CNV deletion 23290073
esv2734050 CNV deletion 23290073
esv2734052 CNV deletion 23290073
esv2734053 CNV deletion 23290073
esv2734054 CNV deletion 23290073
esv2734055 CNV deletion 23290073
esv2759514 CNV loss 17122850
esv3281496 CNV deletion 24192839
esv3308996 CNV mobile element insertion 20981092
esv3379997 CNV insertion 20981092
esv3380217 CNV insertion 20981092
esv34298 CNV loss 17911159
esv3541250 CNV deletion 23714750
esv3571669 CNV loss 25503493
esv3612386 CNV loss 21293372
esv3612387 CNV loss 21293372
esv3612390 CNV loss 21293372
esv3612391 CNV loss 21293372
esv3612392 CNV loss 21293372
esv3612393 CNV gain 21293372
esv3612396 CNV loss 21293372
esv3612397 CNV gain 21293372
esv3891069 CNV loss 25118596
esv3891071 CNV loss 25118596
esv5024 CNV loss 18987735
esv9042 CNV loss 19470904
nsv1017498 CNV loss 25217958
nsv1022814 CNV loss 25217958
nsv1028556 CNV gain 25217958
nsv1030704 CNV loss 25217958
nsv1031019 CNV loss 25217958
nsv1075014 CNV deletion 25765185
nsv1078580 CNV duplication 25765185
nsv1150076 CNV duplication 26484159
nsv1161503 CNV deletion 26073780
nsv366243 CNV deletion 16902084
nsv442031 CNV loss 18776908
nsv464393 CNV loss 19166990
nsv464396 CNV loss 19166990
nsv470133 CNV loss 18288195
nsv478166 CNV novel sequence insertion 20440878
nsv508447 CNV deletion 20534489
nsv511373 CNV loss 21212237
nsv511950 CNV loss 21212237
nsv514407 CNV loss 21397061
nsv517363 CNV loss 19592680
nsv523384 CNV loss 19592680
nsv523408 CNV loss 19592680
nsv5645 CNV insertion 18451855
nsv606313 CNV gain 21841781
nsv606317 CNV gain+loss 21841781
nsv606319 CNV gain 21841781
nsv606321 CNV loss 21841781
nsv606323 CNV loss 21841781
nsv606324 CNV loss 21841781
nsv606325 CNV loss 21841781
nsv8061 CNV loss 18304495
nsv818488 CNV loss 17921354
nsv820033 CNV loss 19587683
nsv821416 CNV deletion 20802225
nsv956985 CNV deletion 24416366

Variation tolerance for ISPD Gene

Gene Damage Index Score: 6.74; 78.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ISPD Gene

Human Gene Mutation Database (HGMD)
ISPD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ISPD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ISPD Gene

Disorders for ISPD Gene

MalaCards: The human disease database

(10) MalaCards diseases for ISPD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy-dystroglycanopathy , type c, 7
  • autosomal recessive limb-girdle muscular dystrophy type 2u
muscular dystrophy-dystroglycanopathy , type a, 7
  • mddga7
congenital muscular dystrophy without intellectual disability
  • cmd without intellectual disability
ispd-related muscle diseases
  • muscular dystrophy-dystroglycanopathy , type a, 7
muscular dystrophy-dystroglycanopathy , type a, 1
  • walker-warburg syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ISPD in MalaCards View complete list of genes associated with diseases

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, ECO:0000269 PubMed:27234031}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ISPD

Genetic Association Database (GAD)
ISPD
Human Genome Epidemiology (HuGE) Navigator
ISPD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ISPD
genes like me logo Genes that share disorders with ISPD: view

No data available for Genatlas for ISPD Gene

Publications for ISPD Gene

  1. Limb-girdle muscular dystrophy with I+-dystroglycan deficiency and mutations in the ISPD gene. (PMID: 23390185) Tasca G. … Ricci E. (Neurology 2013) 3 4 64
  2. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. (PMID: 23217329) Vuillaumier-Barrot S. … Seta N. (Am. J. Hum. Genet. 2012) 3 4 64
  3. 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 64
  4. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. (PMID: 22522421) Roscioli T. … van Bokhoven H. (Nat. Genet. 2012) 3 4 64
  5. 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 46 64

Products for ISPD Gene

Sources for ISPD Gene

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