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Hpdl Gene Detail
Summary
  • Symbol
    Hpdl
  • Name
    4-hydroxyphenylpyruvate dioxygenase-like
  • Synonyms
    A830048M07Rik, Gloxd1, MGC:31514
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444646
    NCBI Gene: 242642
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:116677104-116678705 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 53.35 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    149 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444646
 protein coding gene Chr4:116677101-116678904 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028637
 protein coding gene Chr4:117753857-117755660 (-)
A/J MGP_AJ_G0028598
 protein coding gene Chr4:113220697-113222500 (-)
AKR/J MGP_AKRJ_G0028548
 protein coding gene Chr4:115683877-115685680 (-)
BALB/cJ MGP_BALBcJ_G0028619
 protein coding gene Chr4:113853753-113855556 (-)
C3H/HeJ MGP_C3HHeJ_G0028333
 protein coding gene Chr4:117250813-117252616 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029060
 protein coding gene Chr4:122293617-122295420 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026344
 protein coding gene Chr4:107267382-107269161 (-)
CAST/EiJ MGP_CASTEiJ_G0027767
 protein coding gene Chr4:114478839-114480642 (-)
CBA/J MGP_CBAJ_G0028300
 protein coding gene Chr4:125626872-125628675 (-)
DBA/2J MGP_DBA2J_G0028448
 protein coding gene Chr4:113861004-113862807 (-)
FVB/NJ MGP_FVBNJ_G0028416
 protein coding gene Chr4:112355994-112357797 (-)
LP/J MGP_LPJ_G0028550
 protein coding gene Chr4:117940820-117942623 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028443
 protein coding gene Chr4:130602794-130604597 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029097
 protein coding gene Chr4:116829607-116831410 (-)
PWK/PhJ MGP_PWKPhJ_G0027493
 protein coding gene Chr4:110638162-110639965 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027316
 protein coding gene Chr4:113105985-113107785 (-)
WSB/EiJ MGP_WSBEiJ_G0027846
 protein coding gene Chr4:116703643-116705446 (-)



Homology
more
  • Human Ortholog
    HPDL, 4-hydroxyphenylpyruvate dioxygenase like
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HPDL, 4-hydroxyphenylpyruvate dioxygenase like
  • Synonyms
    4-HPPD-L, GLOXD1, NEDSWMA, SPG83
  • Links
    NCBI Gene ID: 84842
    neXtProt AC: NX_Q96IR7
    UniProt: Q96IR7

  • Chr Location
    1p34.1; chr1:45326895-45328710 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Hpdl mouse models; 1 with human HPDL associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
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 2 alleles in 2 genetic backgrounds
    12 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 exhibit symptoms of early onset neurodegeneration with lethargy and seizures at P5, reduced body weight at P9 and P10, neurodegeneration, and death prior to P15.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    6
  • GO References
    5
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
    706
  • cDNA Data
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 242642 NCBI Gene Model | MGI Sequence Detail 1602 C57BL/6J ±  kb
    transcript NM_146256 RefSeq | MGI Sequence Detail 1602 C57BL/6  
    polypeptide Q8K248 UniProt | EBI | MGI Sequence Detail 371 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000008731 4-hydroxyphenylpyruvate dioxygenase-like protein
      (term hierarchy)
    • EC
      1.13.-.-
    • InterPro Domains
      IPR005956 4-hydroxyphenylpyruvate dioxygenase
      IPR041735 4-hydroxyphenylpyruvate dioxygenase, C-terminal
      IPR041736 4-hydroxyphenylpyruvate dioxygenase, N-terminal
      IPR029068 Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase
      IPR037523 Vicinal oxygen chelate (VOC) domain
    Molecular
    Reagents
    less
    • All nucleic 11
      cDNA 11

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2384306
    References
    more
    • Summaries
      All 35
      Diseases 1
      Gene Ontology 5
      Phenotypes 12
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • 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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory