Gfra1 glial cell line derived neurotrophic factor family receptor alpha 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gfra1provided by MGI
Official Full Name: glial cell line derived neurotrophic factor family receptor alpha 1provided by MGI
Primary source: MGI:MGI:1100842
See related: Ensembl:ENSMUSG00000025089 AllianceGenome:MGI:1100842
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: GFRalpha-1
Summary: This gene encodes a transmembrane protein that functions as the receptor for glial cell line derived neurotrophic factor (GDNF). The encoded protein undergoes proteolytic processing to generate a glycosylphosphatidylinositol-anchored cell surface coreceptor that forms a complex with the Ret tyrosine kinase in GDNF signaling pathway. Mice lacking the encoded protein exhibit deficits in the kidneys, the enteric nervous system, and spinal motor and sensory neurons similar mice deficient in GDNF or Ret. [provided by RefSeq, Jul 2016]
Expression: Broad expression in genital fat pad adult (RPKM 19.8), liver adult (RPKM 7.7) and 15 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 D2; 19 54.18 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (58224013..58444387, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (58235581..58455946, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ASH2L Controls Ureteric Bud Morphogenesis through the Regulation of RET/GFRA1 Signaling Activity in a Mouse Model.
Title: ASH2L Controls Ureteric Bud Morphogenesis through the Regulation of RET/GFRA1 Signaling Activity in a Mouse Model.
Adult medial habenula neurons require GDNF receptor GFRalpha1 for synaptic stability and function.
Title: Adult medial habenula neurons require GDNF receptor GFRα1 for synaptic stability and function.
GDNF and GFRalpha1 Are Required for Proper Integration of Adult-Born Hippocampal Neurons.
Title: GDNF and GFRα1 Are Required for Proper Integration of Adult-Born Hippocampal Neurons.
glial cell line-derived neurotrophic factor (GDNF) was identified as an essential factor for FGSCs self-renewal with a more complicated mechanism: GDNF-GFRA1 activates AKT3 via PI3K or Src family kinase (SFK), and SFK upregulates its target genes, Bcl6b, Etv5, and Lhx1, to promote self-renewal of Female germline stem cells.
Title: AKT3 Is a Pivotal Molecule of Cadherin-22 and GDNF Family Receptor-α1 Signal Pathways Regulating Self-Renewal in Female Germline Stem Cells.
goblet cells may be a potential target for preventative treatment and that reduced expression of GFRa1 may contribute to Hirschsprung's disease susceptibility.
Title: Gfra1 Underexpression Causes Hirschsprung's Disease and Associated Enterocolitis in Mice.
these data provide support for a model of a stem cell pool in which the GFRa1+ and GFRa1- cells are closely related but show key cell-intrinsic differences and can interconvert between the two states based, in part, on access to niche factors.
Title: Purification of GFRα1+ and GFRα1- Spermatogonial Stem Cells Reveals a Niche-Dependent Mechanism for Fate Determination.
We further find that overexpression of NANOS2 results in the repression of GFRA1 and PLZF in gonocytes, leading to a delay in GST. On the other hand, loss of NANOS2 results in the up-regulation of GFRA1 and PLZF, indicating a precocious entry of GST.
Title: NANOS2 acts as an intrinsic regulator of gonocytes-to-spermatogonia transition in the murine testes.
Western blot and immunofluorescence analyses showed two GIP-anchored proteins were clearly involved in the fertilisation process, namely growth arrest specific 1 (Gas1) and glial cell line-derived neurotrophic factor receptor alpha1 (Gfralpha1). This was demonstrated by evaluating oocyte fertilisability after treatment of oocytes with antibodies against the selected proteins, with their respective short interference RN...
Title: Growth arrest specific 1 (Gas1) and glial cell line-derived neurotrophic factor receptor α1 (Gfrα1), two mouse oocyte glycosylphosphatidylinositol-anchored proteins, are involved in fertilisation.
Compromised Survival of Cerebellar Molecular Layer Interneurons Lacking GDNF Receptors GFRalpha1 or RET Impairs Normal Cerebellar Motor Learning.
Title: Compromised Survival of Cerebellar Molecular Layer Interneurons Lacking GDNF Receptors GFRα1 or RET Impairs Normal Cerebellar Motor Learning.
GFRA1 regulates AMPK-dependent autophagy by promoting SRC phosphorylation independent of proto-oncogene RET kinase
Title: GFRA1 promotes cisplatin-induced chemoresistance in osteosarcoma by inducing autophagy.

Submit: New GeneRIF Correction See all GeneRIFs (41)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (12) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU042498 (e-PCR)
- UniSTS:166167

Gfra1 (e-PCR), detects polymorphism
- UniSTS:507440

Gfra1 (e-PCR), detects polymorphism
- UniSTS:143198

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables glial cell-derived neurotrophic factor receptor activity	ISO Inferred from Sequence Orthology more info
enables glial cell-derived neurotrophic factor receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables integrin binding	IEA Inferred from Electronic Annotation more info
enables integrin binding	ISO Inferred from Sequence Orthology more info
enables neurotrophin receptor activity	IEA Inferred from Electronic Annotation more info
enables neurotrophin receptor activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cell migration	IEA Inferred from Electronic Annotation more info
involved_in cell migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell surface receptor protein tyrosine kinase signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in glial cell-derived neurotrophic factor receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in glial cell-derived neurotrophic factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in kidney development	IEA Inferred from Electronic Annotation more info
involved_in male gonad development	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron differentiation	ISO Inferred from Sequence Orthology more info
involved_in neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in neurotrophin signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in axon	IEA Inferred from Electronic Annotation more info
located_in axon	ISO Inferred from Sequence Orthology more info
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in external side of plasma membrane	ISO Inferred from Sequence Orthology more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in extrinsic component of membrane	TAS Traceable Author Statement more info	PubMed
located_in multivesicular body	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of plasma membrane protein complex	IEA Inferred from Electronic Annotation more info
part_of plasma membrane protein complex	ISO Inferred from Sequence Orthology more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	IEA Inferred from Electronic Annotation more info
part_of receptor complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: GDNF family receptor alpha-1

Names: GDNF receptor alpha 1 (GFRa-1); GDNF receptor alpha 1c; GDNF receptor alpha 1d; GDNF receptor alpha 1e; GDNFR-alpha-1; GFR alpha-1; TGF-beta-related neurotrophic factor receptor 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001285457.3 → NP_001272386.1 GDNF family receptor alpha-1 isoform 2 precursor

See identical proteins and their annotated locations for NP_001272386.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has a shorter 5' UTR and lacks an exon in the central coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.

Source sequence(s)

AC102457, AC102610

Consensus CDS

CCDS70967.1

UniProtKB/TrEMBL

A0A097BVN3

Related

ENSMUSP00000117196.2, ENSMUST00000129100.8

Conserved Domains (2) summary

smart00907
Location:149 → 228

GDNF; GDNF/GAS1 domain

pfam02351
Location:238 → 332

GDNF; GDNF/GAS1 domain
NM_001410348.1 → NP_001397277.1 GDNF family receptor alpha-1 isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AC102457, AC102610
NM_010279.4 → NP_034409.1 GDNF family receptor alpha-1 isoform 1 preproprotein

See identical proteins and their annotated locations for NP_034409.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC102457, AC102610

Consensus CDS

CCDS38028.1

UniProtKB/Swiss-Prot

O35246, O35252, P97785

UniProtKB/TrEMBL

A0A097BVN3

Related

ENSMUSP00000026076.8, ENSMUST00000026076.14

Conserved Domains (2) summary

smart00907
Location:154 → 233

GDNF; GDNF/GAS1 domain

pfam02351
Location:243 → 337

GDNF; GDNF/GAS1 domain

RNA

NR_104342.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon at the 3' end, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC102457, AC102610