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Itpa Gene Detail
Summary
  • Symbol
    Itpa
  • Name
    inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
  • Synonyms
    2010016I08Rik, Itp
  • Feature Type
    protein coding gene
  • IDs
    MGI:96622
    NCBI Gene: 16434
  • Gene Overview
    MyGene.info: ITPA
Location & Maps
more
  • Sequence Map
    Chr2:130667610-130681614 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      14005 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 63.24 cM, cytoband F3
  • Mapping Data
    21 experiments
Homology
more
  • Human Ortholog
    ITPA, inosine triphosphatase
  • Vertebrate Orthologs
    11
  • Human Ortholog
    ITPA, inosine triphosphatase
    Orthology source: HomoloGene
  • Synonyms
    C20orf37, dJ794I6.3, HLC14-06-P, ITPase, My049, NTPase
  • Links
    NCBI Gene ID: 3704
    neXtProt AC: NX_Q9BY32

  • Chr Location
    20p; chr20:3208868-3227449 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 6289
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;2 zebrafish
  • HCOP
    human homology predictions: ITPA
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human ITPA associations

Human Disease Mouse Models
       Inosine Triphosphatase Deficiency   OMIM: 613850
Click on a disease name to see all genes associated with that disease.

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

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    32
  • Chemically induced (other)
    1
  • Gene trapped
    27
  • Radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    2 involving Itpa
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit partial perinatal lethality and complete postnatal lethality with postnatal growth retardation, abnormal heart morphology and function, ataxia, and immature hair follicles.
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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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015497 VEGA Gene Model | MGI Sequence Detail 14005 C57BL/6J ±  kb
transcript OTTMUST00000036804 VEGA | MGI Sequence Detail 1390 Not Applicable  
polypeptide OTTMUSP00000016511 VEGA | MGI Sequence Detail 198 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    91 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000009153 inosine triphosphate pyrophosphatase
  • EC
  • InterPro Domains
    IPR002637 Ham1-like protein
    IPR027502 Inosine triphosphate pyrophosphatase
    IPR029001 Inosine triphosphate pyrophosphatase-like
Molecular
Reagents
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  • All nucleic 15
    cDNA 15

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-11505, MGI:1914279, MGI:2139184
References
more
  • Summaries
    All 57
    Developmental Gene Expression 1
    Gene Ontology 6
    Phenotypes 14
  • Earliest
    J:6674 Stallings RL, et al., Confirmational, provisional, and/or regional assignment of 15 enzyme loci onto Chinese hamster autosomes 1, 2, and 7. Somatic Cell Genet. 1981 Nov;7(6):683-98
  • Latest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory