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Spr Gene Detail
Summary
  • Symbol
    Spr
  • Name
    sepiapterin reductase
  • Feature Type
    protein coding gene
  • IDs
    MGI:103078
    NCBI Gene: 20751
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:85110662-85114746 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 37.15 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    209 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103078
 protein coding gene Chr6:85107158-85114748 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030948
 protein coding gene Chr6:86252574-86271180 (-)
A/J MGP_AJ_G0030917
 protein coding gene Chr6:82963998-82977226 (-)
AKR/J MGP_AKRJ_G0030845
 protein coding gene Chr6:85366612-85382586 (-)
BALB/cJ MGP_BALBcJ_G0030927
 protein coding gene Chr6:82971545-82978940 (-)
C3H/HeJ MGP_C3HHeJ_G0030783
 protein coding gene Chr6:99053698-99067340 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031387
 protein coding gene Chr6:88624859-88644997 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028572
 protein coding gene Chr6:81278741-81282236 (-)
CAST/EiJ MGP_CASTEiJ_G0030036
 protein coding gene Chr6:85428919-85462220 (+)
CBA/J MGP_CBAJ_G0030614
 protein coding gene Chr6:92130545-92139627 (-)
DBA/2J MGP_DBA2J_G0030767
 protein coding gene Chr6:82261239-82270553 (-)
FVB/NJ MGP_FVBNJ_G0030720
 protein coding gene Chr6:81465379-81476752 (-)
LP/J MGP_LPJ_G0030846
 protein coding gene Chr6:86247866-86256831 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030756
 protein coding gene Chr6:96333210-96345111 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031411
 protein coding gene Chr6:85183941-85193704 (-)
PWK/PhJ MGP_PWKPhJ_G0029751
 protein coding gene Chr6:81194481-81199383 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029579
 protein coding gene Chr6:84040698-84050024 (-)
WSB/EiJ MGP_WSBEiJ_G0030117
 protein coding gene Chr6:85615700-85631289 (-)



Homology
more
  • Human Ortholog
    SPR, sepiapterin reductase
  • Vertebrate Orthologs
    5
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SPR, sepiapterin reductase
  • Synonyms
    SDR38C1
  • Links
    NCBI Gene ID: 6697
    neXtProt AC: NX_P35270
    UniProt: P35270

  • Chr Location
    2p13.2; chr2:72887382-72892158 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Spr mouse models; 2 with human SPR associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    22 phenotypes from 3 alleles in 3 genetic backgrounds
    18 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.
Mice homozygous for a null allele exhibit premature death, severe growth retardation, dwarfism, decreased levels of insulin-like growth factor 1, dopamine, serotonine, noradrenaline, biopterin, and neopterin, abnormal voluntary movement, and elevated phenylalanine levels.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    19
  • GO References
    8
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
    800
  • Tissues
    94
  • cDNA Data
    97
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20751 NCBI Gene Model | MGI Sequence Detail 4085 C57BL/6J ±  kb
    transcript NM_011467 RefSeq | MGI Sequence Detail 1226 ZRU/MplStud  
    polypeptide Q64105 UniProt | EBI | MGI Sequence Detail 261 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 99
      cDNA 97
      Primer pair 1
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-23942, MGI:2141365
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 8
      Phenotypes 18
    • Earliest
      J:23125 Ota A, et al., Mouse sepiapterin reductase: an enzyme involved in the final step of tetrahydrobiopterin biosynthesis. Primary structure deduced from the cDNA sequence. Biochim Biophys Acta. 1995 Feb 21;1260(3):320-2
    • 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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory