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Ispd Gene Detail
Summary
  • Symbol
    Ispd
  • Name
    isoprenoid synthase domain containing
  • Synonyms
    4930579E17Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923097
    NCBI Gene: 75847
Location & Maps
more
  • Sequence Map
    Chr12:36381519-36689444 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      307926 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 16.84 cM
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    ISPD, isoprenoid synthase domain containing
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ISPD, isoprenoid synthase domain containing
    Orthology source: HGNC, HomoloGene
  • Synonyms
    hCG_1745121, MDDGA7, MDDGC7, Nip
  • Links
    NCBI Gene ID: 729920
    neXtProt AC: NX_A4D126

  • Chr Location
    7p21.2; chr7:15916851-16530558 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 45614
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: ISPD
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with human ISPD associations

Human Disease Mouse Models
       Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 7; MDDGA7   OMIM: 614643
Muscular Dystrophy-Dystroglycanopathy (limb-Girdle), Type C, 7; MDDGC7   OMIM: 616052
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 1 allele in 1 genetic background
    2 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    2
  • Chemically induced (ENU)
    1
  • Endonuclease-mediated
    1
  • Incidental Mutations
Mice homozygous for an ENU-induced allele exhibit neonatal lethality due to respiratory failure, abnormal axon guidance and fasciculation, abnormal dorsal funiculus, detachment of radial glial cell endfeet and neuronal heterotopias.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000043153 Ensembl Gene Model | MGI Sequence Detail 307926 C57BL/6J ±  kb
transcript ENSMUST00000062041 Ensembl | MGI Sequence Detail 2690 Not Applicable  
polypeptide ENSMUSP00000061646 Ensembl | MGI Sequence Detail 447 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    2010 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000031039 isoprenoid synthase domain-containing protein
  • EC
  • InterPro Domains
    IPR001228 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase
    IPR018294 4-diphosphocytidyl-2C-methyl-D-erythritol synthase, conserved site
    IPR029044 Nucleotide-diphospho-sugar transferases
Molecular
Reagents
less
  • All nucleic 13
    cDNA 13

    Microarray probesets 4
Other
Accession IDs
less
MGI:2144979
References
more
  • Summaries
    All 26
    Developmental Gene Expression 1
    Gene Ontology 5
    Phenotypes 2
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:215959 Yagi H, et al., AGO61-dependent GlcNAc modification primes the formation of functional glycans on alpha-dystroglycan. Sci Rep. 2013;3:3288

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory