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Fh1 Gene Detail
Summary
  • Symbol
    Fh1
  • Name
    fumarate hydratase 1
  • Synonyms
    fumarase
  • Feature Type
    protein coding gene
  • IDs
    MGI:95530
    NCBI Gene: 14194
  • Alliance
  • Transcription Start Sites
    5 TSS
  • Candidate for QTL
    1 QTL
Location &
Maps
more
  • Sequence Map
    Chr1:175428944-175453201 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 1, 81.58 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1011 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95530
protein coding gene Chr1:175427940-175453201 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016836
protein coding gene Chr1:181697935-181725737 (-)
A/J MGP_AJ_G0016815
protein coding gene Chr1:174370522-174395921 (-)
AKR/J MGP_AKRJ_G0016781
protein coding gene Chr1:179586907-179613064 (-)
BALB/cJ MGP_BALBcJ_G0016773
protein coding gene Chr1:174911312-174936803 (-)
C3H/HeJ MGP_C3HHeJ_G0016598
protein coding gene Chr1:180198000-180223761 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017238
protein coding gene Chr1:187696137-187722344 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014943
protein coding gene Chr1:165690212-165716187 (-)
CAST/EiJ MGP_CASTEiJ_G0016179
protein coding gene Chr1:179561114-179586494 (-)
CBA/J MGP_CBAJ_G0016572
protein coding gene Chr1:194543799-194581773 (-)
DBA/2J MGP_DBA2J_G0016677
protein coding gene Chr1:173231577-173256779 (-)
FVB/NJ MGP_FVBNJ_G0016674
protein coding gene Chr1:171356768-171381953 (-)
LP/J MGP_LPJ_G0016753
protein coding gene Chr1:182895495-182920600 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016706
protein coding gene Chr1:201793211-201820942 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017273
protein coding gene Chr1:179360402-179388045 (-)
PWK/PhJ MGP_PWKPhJ_G0015966
protein coding gene Chr1:172320148-172345728 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015743
protein coding gene Chr1:178397873-178424641 (-)
WSB/EiJ MGP_WSBEiJ_G0016241
protein coding gene Chr1:179557501-179584243 (-)



Homology
more
  • Human Ortholog
    FH, fumarate hydratase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FH, fumarate hydratase
  • Synonyms
    FMRD, HLRCC, HsFH, LRCC, MCL, MCUL1
  • Links
    NCBI Gene ID: 2271
    neXtProt AC: NX_P07954
    UniProt: P07954

  • Chr Location
    1q43; chr1:241497511-241519799 (-)  GRCh38

Human Diseases
more
  • Diseases
    2 with human FH associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    13 phenotypes from 2 alleles in 2 genetic backgrounds
    2 phenotypes from multigenic genotypes
    20 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.
Embryos homozygous for a knock-out allele fail to develop past the egg-cylinder stage and die at E6.0.
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
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14194 NCBI Gene Model | MGI Sequence Detail 24258 C57BL/6J ±  kb
    transcript NM_010209 RefSeq | MGI Sequence Detail 1644 C57BL/6  
    polypeptide P97807 UniProt | EBI | MGI Sequence Detail 507 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 121
      cDNA 117
      Primer pair 4

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-9792, MGD-MRK-9793
    References
    more
    • Summaries
      All 65
      Developmental Gene Expression 11
      Gene Ontology 15
      Phenotypes 20
    • Earliest
      J:44165 Fu X, et al., E2a-Pbx1 induces aberrant expression of tissue-specific and developmentally regulated genes when expressed in NIH 3T3 fibroblasts. Mol Cell Biol. 1997 Mar;17(3):1503-12
    • Latest
      J:346910 Ayyangar U, et al., Metabolic rewiring of macrophages by epidermal-derived lactate promotes sterile inflammation in the murine skin. EMBO J. 2024 Apr;43(7):1113-1134

    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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    last database update
    11/12/2024
    MGI 6.24
    The Jackson Laboratory