Human Gene ISPD (uc010ktx.2) Description and Page Index
  Description: Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant 1, mRNA.
RefSeq Summary (NM_001101426): 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].
Transcript (Including UTRs)
   Position: hg19 chr7:16,127,152-16,460,947 Size: 333,796 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr7:16,131,320-16,460,947 Size: 329,628 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr7:16,127,152-16,460,947)mRNA (may differ from genome)Protein (451 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSCGAP
EnsemblEntrez GeneExonPrimerGeneCardsHGNCHPRD
LynxMGIneXtProtOMIMPubMedStanford SOURCE

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Isoprenoid synthase domain-containing protein; EC=2.7.7.-; AltName: Full=2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein;
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.
TISSUE SPECIFICITY: Ubiquitously expressed, with high expression in brain.
DISEASE: Defects in ISPD are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A7 (MDDGA7) [MIM:614643]. MDDGA7 is 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.
SIMILARITY: Belongs to the IspD family.
SEQUENCE CAUTION: Sequence=EAL24288.1; Type=Erroneous gene model prediction;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ISPD
CDC HuGE Published Literature: ISPD

-  MalaCards Disease Associations
  MalaCards Gene Search: ISPD
Diseases sorted by gene-association score: muscular dystrophy-dystroglycanopathy , type c, 7* (1566), muscular dystrophy-dystroglycanopathy , type a, 7* (1200), muscular dystrophy-dystroglycanopathy* (308), congenital muscular dystrophy without intellectual disability* (247), ispd-related muscle diseases* (200), walker-warburg syndrome* (150), cobblestone lissencephaly (20), tuberculous peritonitis (7), muscular dystrophy-dystroglycanopathy , type c, 14 (7), muscular dystrophy (6), muscle eye brain disease (5), bethlem myopathy 1 (4), muscular dystrophy, congenital (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.83 RPKM in Testis
Total median expression: 17.37 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -1353.394168-0.325 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001228 - ISPD_synthase
IPR018294 - ISPD_synthase_CS

Pfam Domains:
PF01128 - 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase
PF12804 - MobA-like NTP transferase domain

SCOP Domains:
53448 - Nucleotide-diphospho-sugar transferases

ModBase Predicted Comparative 3D Structure on A4D126
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 Protein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0016740 transferase activity
GO:0016779 nucleotidyltransferase activity
GO:0042803 protein homodimerization activity
GO:0047349 D-ribitol-5-phosphate cytidylyltransferase activity
GO:0070567 cytidylyltransferase activity

Biological Process:
GO:0006486 protein glycosylation
GO:0007411 axon guidance
GO:0008299 isoprenoid biosynthetic process
GO:0035269 protein O-linked mannosylation

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol

-  Descriptions from all associated GenBank mRNAs
  HM005410 - Homo sapiens clone HTL-T-97 testicular tissue protein Li 97 mRNA, complete cds.
AK124805 - Homo sapiens cDNA FLJ42815 fis, clone BRCAN2014143.
JD205226 - Sequence 186250 from Patent EP1572962.
JD246790 - Sequence 227814 from Patent EP1572962.
JD413312 - Sequence 394336 from Patent EP1572962.
JD198022 - Sequence 179046 from Patent EP1572962.
JD246789 - Sequence 227813 from Patent EP1572962.
JD413311 - Sequence 394335 from Patent EP1572962.
JD198021 - Sequence 179045 from Patent EP1572962.
JD212643 - Sequence 193667 from Patent EP1572962.
JD217952 - Sequence 198976 from Patent EP1572962.
JD542682 - Sequence 523706 from Patent EP1572962.
JD246788 - Sequence 227812 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A4D126, A8MU35, H9KVB2, ISPD_HUMAN, NM_001101426, NP_001094896
UCSC ID: uc010ktx.2
RefSeq Accession: NM_001101426
Protein: A4D126 (aka ISPD_HUMAN)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_001101426.3
exon count: 10CDS single in 3' UTR: no RNA size: 5524
ORF size: 1356CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2912.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.