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Gfra1 Gene Detail
Summary
  • Symbol
    Gfra1
  • Name
    glial cell line derived neurotrophic factor family receptor alpha 1
  • Synonyms
    GDNFR-alpha, GFR alpha-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1100842
    NCBI Gene: 14585
  • Alliance
    gene page
  • Transcription Start Sites
    19 TSS
  • Candidate for QTL
    6 QTL
Location &
Maps
more
  • Sequence Map
    Chr19:58224036-58444341 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 54.18 cM, cytoband D2-D3
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    6444 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1100842
 protein coding gene Chr19:58224013-58444387 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025276
 protein coding gene Chr19:58704600-58930825 (-)
A/J MGP_AJ_G0025252
 protein coding gene Chr19:55809934-56032271 (-)
AKR/J MGP_AKRJ_G0025221
 protein coding gene Chr19:57562567-57791063 (-)
BALB/cJ MGP_BALBcJ_G0025247
 protein coding gene Chr19:55882809-56103584 (-)
C3H/HeJ MGP_C3HHeJ_G0025007
 protein coding gene Chr19:57798140-58029523 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025690
 protein coding gene Chr19:60107855-60345550 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023102
 protein coding gene Chr19:54702087-54926391 (-)
CAST/EiJ MGP_CASTEiJ_G0024472
 protein coding gene Chr19:57868101-58100349 (-)
CBA/J MGP_CBAJ_G0024987
 protein coding gene Chr19:63046863-63287832 (-)
DBA/2J MGP_DBA2J_G0025119
 protein coding gene Chr19:55565779-55786414 (-)
FVB/NJ MGP_FVBNJ_G0025080
 protein coding gene Chr19:55297094-55521006 (-)
LP/J MGP_LPJ_G0025205
 protein coding gene Chr19:58561712-58789379 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025113
 protein coding gene Chr19:62293665-62546422 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025748
 protein coding gene Chr19:57786071-58014996 (-)
PWK/PhJ MGP_PWKPhJ_G0024220
 protein coding gene Chr19:55557553-55781068 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024023
 protein coding gene Chr19:56458962-56688116 (-)
WSB/EiJ MGP_WSBEiJ_G0024542
 protein coding gene Chr19:57900369-58132940 (-)



Homology
more
  • Human Ortholog
    GFRA1, GDNF family receptor alpha 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GFRA1, GDNF family receptor alpha 1
  • Synonyms
    GDNFR, GDNFRA, GDNFR-alpha-1, GFRalpha-1, GFR-ALPHA-1, RET1L, RETL1, RHDA4, TRNR1
  • Links
    NCBI Gene ID: 2674
    neXtProt AC: NX_P56159
    UniProt: P56159

  • Chr Location
    10q25.3; chr10:116056925-116276803 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Gfra1 mouse models; 1 with human GFRA1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    54 phenotypes from 7 alleles in 8 genetic backgrounds
    5 phenotypes from multigenic genotypes
    66 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.
Homozygotes for targeted null mutations lack kidneys and enteric neurons resulting in neonatal lethality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    44
  • GO References
    11
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
    1359
  • Tissues
    250
  • cDNA Data
    75
  • Literature Summary
    130
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025089 Ensembl Gene Model | MGI Sequence Detail 220306 C57BL/6J ±  kb
    transcript ENSMUST00000026076 Ensembl | MGI Sequence Detail 4641 Not Applicable  
    polypeptide ENSMUSP00000026076 Ensembl | MGI Sequence Detail 468 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      11 Sequences
    • Protein Ontology
      PR:000007948 GDNF family receptor alpha-1
      (term hierarchy)
    • InterPro Domains
      IPR016017 GDNF/GAS1
      IPR037193 GDNF receptor alpha
      IPR003438 Glial cell line-derived neurotrophic factor receptor
      IPR003503 Glial cell line-derived neurotrophic factor receptor, alpha 1
      IPR017372 Glial cell line-derived neurotrophic factor receptor, alpha 1/2
    • GlyGen
      P97785 3 sites, 1 N-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 98
      cDNA 81
      Primer pair 9
      Other 8

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2147659
    References
    more
    • Summaries
      All 224
      Developmental Gene Expression 130
      Diseases 2
      Gene Ontology 11
      Phenotypes 66
    • Earliest
      J:43790 Molliver DC, et al., IB4-binding DRG neurons switch from NGF to GDNF dependence in early postnatal life. Neuron. 1997 Oct;19(4):849-61
    • Latest
      J:347974 Zhou B, et al., Identification of signaling pathways that specify a subset of migrating enteric neural crest cells at the wavefront in mouse embryos. Dev Cell. 2024 Apr 15;
    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