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hph1 Gene Detail
Summary
  • Symbol
    hph1
  • Name
    hyperphenylalaninemia 1
  • Synonyms
    hph-1
  • Feature Type
    heritable phenotypic marker
  • IDs
    MGI:96214
    NCBI Gene: 15447
  • Alliance
Location & Maps
more
  • Sequence Map
    Genome coordinates not available
  • Genetic Map
    Chromosome 14, Syntenic
  • Mapping Data
    6 experiments
Human Diseases
more
  • Diseases
    2 with hph1 mouse models

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 1 allele in 1 genetic background
    28 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.
Mutations in this gene result in hyperphenylalaninemia.
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.
Sequences &
Gene Models
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Other
Accession IDs
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MGD-MRK-10916, MGD-MRK-10918
References
more
  • Summaries
    All 34
    Diseases 2
    Gene Ontology 3
    Phenotypes 28
  • Earliest
    J:8982 McDonald JD, et al., Biochemical defect of the hph-1 mouse mutant is a deficiency in GTP-cyclohydrolase activity. J Neurochem. 1988 Feb;50(2):655-7
  • Latest
    J:221429 Avriyanti E, et al., Functional redundancy of protein kinase D1 and protein kinase D2 in neuronal polarity. Neurosci Res. 2015 Jun;95:12-20

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
12/13/2017
MGI 6.11
The Jackson Laboratory