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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
  • Gene Overview
    MyGene.info: GFRA1
Location & Maps
more
  • Sequence Map
    Chr19:58235604-58455909 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      220306 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 54.18 cM, cytoband D2-D3
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    GFRA1, GDNF family receptor alpha 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GFRA1, GDNF family receptor alpha 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    GDNFR, GDNFRA, GFR-ALPHA-1, RET1L, RETL1, TRNR1
  • Links
    NCBI Gene ID: 2674
    neXtProt AC: NX_P56159
    UniProt: P56159

  • Chr Location
    10q25.3; chr10:116056925-116273645 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Gfra1 mouse models

Human Disease Mouse Models
      
IDs
 View 2 models
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
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  • Phenotype Summary
    54 phenotypes from 7 alleles in 8 genetic backgrounds
    5 phenotypes from multigenic genotypes
    49 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
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  • All GO Annotations
    21
  • GO References
    6
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.
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
    446
  • Tissues
    159
  • cDNA Data
    73
  • Literature Summary
    88
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033056 VEGA Gene Model | MGI Sequence Detail 220306 C57BL/6J ±  kb
transcript OTTMUST00000082533 VEGA | MGI Sequence Detail 4641 Not Applicable  
polypeptide OTTMUSP00000044237 VEGA | MGI Sequence Detail 468 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    2383 from dbSNP Build 142
Protein
Information
less
  • UniProt
    9 Sequences
  • Protein Ontology
    PR:000007948 GDNF family receptor alpha-1
    (term hierarchy)
  • InterPro Domains
    IPR016017 GDNF/GAS1
    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
Molecular
Reagents
less
  • All nucleic 82
    cDNA 78
    Primer pair 3
    Other 1

    Microarray probesets 7
Other
Accession IDs
less
MGI:2147659
References
more
  • Summaries
    All 158
    Developmental Gene Expression 88
    Diseases 2
    Gene Ontology 6
    Phenotypes 49
  • 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:240355 Ortega-de San Luis C, et al., Simultaneous Detection of Both GDNF and GFRalpha1 Expression Patterns in the Mouse Central Nervous System. Front Neuroanat. 2016;10:73
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
06/20/2017
MGI 6.10 		The Jackson Laboratory