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Prps1 Gene Detail
Summary
  • Symbol
    Prps1
  • Name
    phosphoribosyl pyrophosphate synthetase 1
  • Synonyms
    2310010D17Rik, Prps-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:97775
    NCBI Gene: 19139
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:139357362-139376889 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 61.35 cM, cytoband F1-F2
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    497 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97775
 protein coding gene ChrX:139357352-139376889 (+)
129S1/SvImJ MGP_129S1SvImJ_G0036134
 protein coding gene ChrX:138005983-138026861 (+)
A/J MGP_AJ_G0036112
 protein coding gene ChrX:137383207-137405329 (+)
AKR/J MGP_AKRJ_G0036037
 protein coding gene ChrX:141784467-141804998 (+)
BALB/cJ MGP_BALBcJ_G0036102
 protein coding gene ChrX:135697938-135717554 (+)
C3H/HeJ MGP_C3HHeJ_G0035811
 protein coding gene ChrX:138014918-138035061 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036627
 protein coding gene ChrX:142049193-142071191 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033451
 protein coding gene ChrX:129107450-129130473 (+)
CAST/EiJ MGP_CASTEiJ_G0035102
 protein coding gene ChrX:118832307-118852575 (+)
CBA/J MGP_CBAJ_G0035788
 protein coding gene ChrX:146413983-146436456 (+)
DBA/2J MGP_DBA2J_G0035945
 protein coding gene ChrX:136526543-136546278 (+)
FVB/NJ MGP_FVBNJ_G0035879
 protein coding gene ChrX:135759712-135780187 (+)
LP/J MGP_LPJ_G0036036
 protein coding gene ChrX:138957048-138976513 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035916
 protein coding gene ChrX:153926643-153948855 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036663
 protein coding gene ChrX:137311994-137331506 (+)
PWK/PhJ MGP_PWKPhJ_G0034795
 protein coding gene ChrX:115735488-115755776 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034621
 protein coding gene ChrX:119373827-119393361 (+)
WSB/EiJ MGP_WSBEiJ_G0035237
 protein coding gene ChrX:135636322-135655753 (+)



Homology
more
  • Human Ortholog
    PRPS1, phosphoribosyl pyrophosphate synthetase 1
  • Vertebrate Orthologs
    5
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PRPS1, phosphoribosyl pyrophosphate synthetase 1
  • Synonyms
    ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI
  • Links
    NCBI Gene ID: 5631
    neXtProt AC: NX_P60891
    UniProt: P60891

  • Chr Location
    Xq22.3; chrX:107628428-107651993 (+)  GRCh38
Human Diseases
more
  • Diseases
    6 with human PRPS1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    15 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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    35
  • GO References
    10
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
    866
  • Tissues
    136
  • cDNA Data
    143
  • Literature Summary
    8
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000031432 Ensembl Gene Model | MGI Sequence Detail 19528 C57BL/6J ±  kb
transcript ENSMUST00000033809 Ensembl | MGI Sequence Detail 1965 Not Applicable  
polypeptide ENSMUSP00000033809 Ensembl | MGI Sequence Detail 318 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000013291 ribose-phosphate pyrophosphokinase 1
    (term hierarchy)
  • EC
    2.7.6.1
  • InterPro Domains
    IPR000842 Phosphoribosyl pyrophosphate synthetase, conserved site
    IPR000836 Phosphoribosyltransferase domain
    IPR029057 Phosphoribosyltransferase-like
    IPR005946 Ribose-phosphate pyrophosphokinase
    IPR037515 Ribose-phosphate pyrophosphokinase, bacterial-type
    IPR029099 Ribose-phosphate pyrophosphokinase, N-terminal domain
  • GlyGen
    Q9D7G0 2 sites, 3 N-linked glycans (1 site), 1 O-linked glycan (1 site)
Molecular
Reagents
less
  • All nucleic 156
    cDNA 152
    Primer pair 3
    Other 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-13629, MGD-MRK-13631, MGI:1913803, MGI:2145078, MGI:2148046
References
more
  • Summaries
    All 64
    Developmental Gene Expression 8
    Gene Ontology 10
    Phenotypes 15
  • Earliest
    J:9641 Taira M, et al., Tissue-differential expression of two distinct genes for phosphoribosyl pyrophosphate synthetase and existence of the testis-specific transcript. Biochim Biophys Acta. 1989 Mar 1;1007(2):203-8
  • Latest
    J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
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)
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Funding Information
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory