ISPD Gene
protein-coding GIFtS: 39
GCID: GC07M016098
|
|
isoprenoid synthase domain containing
| |
Aliases
for ISPD gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Isoprenoid Synthase Domain Containing1 2 | | 4-Diphosphocytidyl-2C-Methyl-D-Erythritol Synthase Homolog2 | | Nip1 2 | | MDDGA72 | | 2-C-Methyl-D-Erythritol 4-Phosphate Cytidylyltransferase-Like Protein2 3 | | Isoprenoid Synthase Domain-Containing Protein2 | | IspD1 | | Notch1-Induced Protein2 | | HCG_17451211 | | EC 2.7.7.-3 |
Export aliases for ISPD gene to outside databases |
Summaries
for ISPD gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ISPD:
This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene arethe cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. (provided by RefSeq,May 2012)
UniProtKB/Swiss-Prot: ISPD_HUMAN, A4D126Function: Required for protein O-linked mannosylation. Probably acts as a nucleotidyltransferase involved in synthesisof a nucleotide sugar. Required for dystroglycan O-mannosylation
|
Genomic Views
for ISPD gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000007.13 NC_018918.1 NT_007819.17 NT_079592.2
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for ISPD
Other transcription factors
Search SABiosciences Chromatin IP Primers for ISPD
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ISPD |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7p21.2 Ensembl cytogenetic band: 7p21.2 HGNC cytogenetic band: 7p21.2ISPD Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07M016098: view genomic region
(about GC identifiers)
Start:
|
16,127,152 bp from pter |
End:
|
16,460,947 bp from pter |
Size:
|
333,796 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr7-,CRA_TCAG 16,180,240-16,514,081 |
|
Proteins
for ISPD gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ISPD_HUMAN, A4D126 (See
protein sequence)Recommended Name: Isoprenoid synthase domain-containing protein Size: 451 amino acids; 49873 Da
Sequence caution: Sequence=EAL24288.1; Type=Erroneous gene model prediction;
Secondary accessions: A8MU35 H9KVB2Alternative splicing: 2 isoforms: A4D126-1 A4D126-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ISPD: NX_A4D126
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_A4D126
ISPD Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001094887.1 NP_001094896.1
ENSEMBL proteins: ENSP00000385478 ENSP00000382249
Human Recombinant Protein Products:
ISPD Antibody Products:
Assay Products for ISPD: |
Protein
Domains /
Families
for ISPD gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ISPD for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry A4D126ProtoNet protein and cluster: A4D126 UniProtKB/Swiss-Prot: ISPD_HUMAN, A4D126Similarity: Belongs to the IspD family |
Function
for ISPD gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ISPD_HUMAN, A4D126Function: Required for protein O-linked mannosylation. Probably acts as a nucleotidyltransferase involved in synthesisof a nucleotide sugar. Required for dystroglycan O-mannosylationEnzyme Number (IUBMB): EC 2.7.7.-1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ISPD (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ISPD (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): ISPD (NM_001101426) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ISPD | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ISPD |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ISPD |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016779 | nucleotidyltransferase activity |
IEA | -- |
ISPD for ontologies About GeneDecksing
|
Pathways & Interactions
for ISPD gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
UniProtKB/Swiss-Prot: ISPD_HUMAN, A4D126Pathway: Protein modification; protein glycosylationInteractions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ISPD
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008299 | isoprenoid biosynthetic process |
IEA | -- | | GO:0035269 | protein O-linked mannosylation |
IMP | -- |
ISPD for ontologies About GeneDecksing
|
Drugs & Compounds
for ISPD gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ISPD
Search CenterWatch for drugs/clinical trials and news about ISPD
|
Transcripts
for ISPD gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ISPD gene (2 alternative transcripts): NM_001101417.3 NM_001101426.3 Unigene Cluster for ISPD: Isoprenoid synthase domain containing Hs.636502 [show with all ESTs]Unigene Representative Sequence: NM_0011014263 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000407010(uc010ktx.2) ENST00000399310(uc010kty.2) ENST00000479493
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ISPD (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ISPD (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): ISPD (NM_001101426) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ISPD | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ISPD |
Additional cDNA sequence: AK124805.1 5 DOTS entries: DT.100689799 DT.91690171 DT.100739914 DT.101955795 DT.86857343
GeneLoc Exon Structure
|
Expression
for ISPD gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ISPD expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGAACACAA
About this image
See ISPD Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.636502
UniProtKB/Swiss-Prot: ISPD_HUMAN, A4D126Tissue specificity: Ubiquitously expressed, with high expression in brain
SABiosciences Custom PCR Arrays for ISPD
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ISPD
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ISPD | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ISPD | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ISPD | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ISPD |
Orthologs
for ISPD gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for ISPD gene from 7/20 species (see all 20) About this table
ENSEMBL Gene Tree for ISPD (if available)
TreeFam Gene Tree for ISPD (if available) |
Paralogs
for ISPD gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ISPD gene
ISPD for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for ISPD
PGOHUM00000239597
|
Genomic Variants
for ISPD gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 7 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ISPD (16127152 - 16377152 bp, first 250kb of ISPD)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 20 variations for ISPD
14 CNVs: 3667 6533 64770 9050 43450 10180 52176 2683 59398 62624 2682 32873 38670 9049
6 Indels: 94390 81873 52175 81874 52177 94391
Human Gene Mutation Database (HGMD): ISPD
Locus Specific Mutation Databases (LSDB): ISPD
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ISPD |
|
Disorders
/ Diseases
for ISPD gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ISPD for disorders About GeneDecksing
OMIM gene information: 614631
OMIM disorders: --
UniProtKB/Swiss-Prot: ISPD_HUMAN, A4D126
Defects in ISPD are the cause of muscular dystrophy-dystroglycanopathy congenital with brain and eye anomaliestype A7 (MDDGA7) [MIM:614643]. MDDGA7 is an autosomal recessive disorder characterized by congenital musculardystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mentalretardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburgsyndrome and the slightly less severe muscle-eye-brain disease
9  diseases for ISPD: About MalaCardswalker-warburg syndrome peritonitis pneumonia tuberculosis
muscular dystrophy-dystroglycanopathy muscle-eye-brain disease congenital muscular dystrophy lissencephaly
mycobacterium tuberculosis
2 diseases from the University of Copenhagen DISEASES database for ISPD:Peritonitis Walker-Warburg syndrome Human Genome Epidemiology (HuGE) Navigator: ISPD (4 documents)
Export disorders for ISPD gene to outside databases
|
Publications
for ISPD gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ISPD gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with ISPD) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. (PubMed id 22522421)1, 2 Roscioli T.... van Bokhoven H. (2012)
- ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. (PubMed id 22522420)1, 2 Willer T.... Campbell K.P. (2012)
- Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
- The sequence of the human genome. (PubMed id 11181995)1, 3 Venter J.C.... Zhu X. (2001)
- Identification of mutations in TMEM5 and ISPD as a cau se of severe cobblestone lissencephaly. (PubMed id 23217329)1 Vuillaumier-Barrot S....Seta N. (2012)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
- Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
- The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (2003)
- Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PubMed id 10737800)1 Dias Neto E....Simpson A.J.G. (2000)
|
External Searches for ISPD gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ISPD gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ISPD gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ISPD gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ISPD | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ISPD gene:
Search GeneIP for patents involving ISPD
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ISPD gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for ISPD | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ISPD | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ISPD | | | OriGene Protein Over-expression Lysate for ISPD | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ISPD | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ISPD | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ISPD | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for ISPD | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for ISPD | | OriGene Custom Protein Services for ISPD | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ISPD | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ISPD | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ISPD | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ISPD | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ISPD | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ISPD |
| |
 |  |  |  | |
| | | | Search Tocris compounds for ISPD |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | ISPD Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ISPD |
|  |  |  | | | | ThermoFisher Antibodies for ISPD |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ISPD |
|
|
|
|
