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Hprt1 Gene Detail
Summary
  • Symbol
    Hprt1
  • Name
    hypoxanthine phosphoribosyltransferase 1
  • Synonyms
    Hprt
  • Feature Type
    protein coding gene
  • IDs
    MGI:96217
    NCBI Gene: 15452
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:52077014-52110536 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 29.31 cM, cytoband A6
  • Mapping Data
    98 experiments
Strain
Comparison
more
  • SNPs within 2kb
    805 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    3
  • RFLP
    8
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96217
 protein coding gene ChrX:52076955-52110537 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035719
 protein coding gene ChrX:48228246-48266829 (+)
A/J MGP_AJ_G0035702
 protein coding gene ChrX:48078427-48112228 (+)
AKR/J MGP_AKRJ_G0035622
 protein coding gene ChrX:49407878-49442124 (+)
BALB/cJ MGP_BALBcJ_G0035688
 protein coding gene ChrX:47615557-47649125 (+)
C3H/HeJ MGP_C3HHeJ_G0035392
 protein coding gene ChrX:48480576-48514686 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036218
 protein coding gene ChrX:49371704-49412935 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033070
 protein coding gene ChrX:45542687-45578547 (+)
CAST/EiJ MGP_CASTEiJ_G0034683
 protein coding gene ChrX:35921225-35958169 (+)
CBA/J MGP_CBAJ_G0035366
 protein coding gene ChrX:50740439-50777507 (+)
DBA/2J MGP_DBA2J_G0035521
 protein coding gene ChrX:47858311-47892579 (+)
FVB/NJ MGP_FVBNJ_G0035469
 protein coding gene ChrX:47581109-47615597 (+)
LP/J MGP_LPJ_G0035608
 protein coding gene ChrX:48555164-48590188 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035508
 protein coding gene ChrX:52300127-52334123 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036235
 protein coding gene ChrX:48108167-48144415 (+)
PWK/PhJ MGP_PWKPhJ_G0034382
 protein coding gene ChrX:35414485-35450197 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034227
 protein coding gene ChrX:36742182-36777406 (+)
WSB/EiJ MGP_WSBEiJ_G0034827
 protein coding gene ChrX:47667478-47702057 (+)



Homology
more
  • Human Ortholog
    HPRT1, hypoxanthine phosphoribosyltransferase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HPRT1, hypoxanthine phosphoribosyltransferase 1
  • Synonyms
    HGPRT, HPRT
  • Links
    NCBI Gene ID: 3251
    neXtProt AC: NX_P00492
    UniProt: P00492

  • Chr Location
    Xq26.2-q26.3; chrX:134460165-134520513 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Hprt1 mouse models; 2 with human HPRT1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    9 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    23 phenotypes from 104 alleles in 87 genetic backgrounds
    297 phenotypes from multigenic genotypes
    2 images
    590 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.
Homozygotes for null mutations exhibit a four to fivefold increase in de novo purine synthesis but are phenotypically normal.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    67
  • GO References
    41
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1018
  • Tissues
    159
  • cDNA Data
    194
  • Literature Summary
    37
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025630 Ensembl Gene Model | MGI Sequence Detail 33523 C57BL/6J ±  kb
    transcript ENSMUST00000026723 Ensembl | MGI Sequence Detail 1289 Not Applicable  
    polypeptide ENSMUSP00000026723 Ensembl | MGI Sequence Detail 218 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 230
      Genomic 20
      cDNA 195
      Primer pair 13
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10922, MGI:2148073, MGI:7484199
    References
    more
    • Summaries
      All 783
      Developmental Gene Expression 37
      Diseases 9
      Gene Ontology 41
      Phenotypes 590
    • Earliest
      J:12173 Coleman DL, Effect of genic substitution on the incorporation of tyrosine into the melanin of mouse skin. Arch Biochem Biophys. 1962 Mar;96:562-8
    • Latest
      J:359110 Dinakaran S, et al., CDK6-mediated endothelial cell cycle acceleration drives arteriovenous malformations in hereditary hemorrhagic telangiectasia. Nat Cardiovasc Res. 2024 Nov;3(11):1301-1317
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory