• Gene id: 2674

Gene Summary

• Gene Symbol: GFRA1   Gene   UCSC   Ensembl
• Aliases: GDNFR, GDNFRA, GFR-ALPHA-1, RET1L, RETL1, TRNR1
• Gene name: GDNF family receptor alpha 1
• Alternate names: GDNF family receptor alpha-1, GDNFR-alpha-1, GPI-linked anchor protein, Glial cell line-derived neurotrophic factor receptor alpha, PI-linked cell-surface accessory protein, RET ligand 1, TGF-beta-related neurotrophic factor receptor 1,
• Gene location: 10q25.3 (116273644: 116056924)     Exons: 14     NC_000010.11
• Gene summary(Entrez): This gene encodes a member of the glial cell line-derived neurotrophic factor receptor (GDNFR) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature receptor. Glial cell line-derived neurotrophic factor (GDNF) a
• OMIM: 601496

Protein Summary

• Protein general information: P56159  
  • Name: GDNF family receptor alpha 1 (GDNF receptor alpha 1) (GDNFR alpha 1) (GFR alpha 1) (RET ligand 1) (TGF beta related neurotrophic factor receptor 1)
  • Length: 465  
  • Mass: 51,456
• Sequence:

  MFLATLYFALPLLDLLLSAEVSGGDRLDCVKASDQCLKEQSCSTKYRTLRQCVAGKETNFSLASGLEAKDECRSA
  MEALKQKSLYNCRCKRGMKKEKNCLRIYWSMYQSLQGNDLLEDSPYEPVNSRLSDIFRVVPFISDVFQQVEHIPK
  GNNCLDAAKACNLDDICKKYRSAYITPCTTSVSNDVCNRRKCHKALRQFFDKVPAKHSYGMLFCSCRDIACTERR
  RQTIVPVCSYEEREKPNCLNLQDSCKTNYICRSRLADFFTNCQPESRSVSSCLKENYADCLLAYSGLIGTVMTPN
  YIDSSSLSVAPWCDCSNSGNDLEECLKFLNFFKDNTCLKNAIQAFGNGSDVTVWQPAFPVQTTTATTTTALRVKN
  KPLGPAGSENEIPTHVLPPCANLQAQKLKSNVSGNTHLCISNGNYEKEGLGASSHITTKSMAAPPSCGLSPLLVL
  VVTALSTLLSLTETS

• Structural information:
  • Interpro: IPR016017  IPR037193  IPR003438  IPR003503  IPR017372  
  • DIP: 59052
  • STRING: ENSP00000393725
• Other Databases: GeneCards:  GFRA1  Malacards:  GFRA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000165	MAPK cascade	TAS	biological process
GO:0005088	Ras guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005102	receptor binding	TAS	molecular function
GO:0005622	intracellular	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007166	cell surface receptor signaling pathway	NAS	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0016167	glial cell-derived neurotrophic factor receptor activity	TAS	molecular function
GO:0019898	extrinsic component of membrane	TAS	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0035860	glial cell-derived neurotrophic factor receptor signaling pathway	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0000165	MAPK cascade	TAS	biological process
GO:0004872	receptor activity	IEA	molecular function
GO:0005088	Ras guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005102	receptor binding	TAS	molecular function
GO:0005622	intracellular	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007166	cell surface receptor signaling pathway	NAS	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016167	glial cell-derived neurotrophic factor receptor activity	TAS	molecular function
GO:0019898	extrinsic component of membrane	TAS	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0035860	glial cell-derived neurotrophic factor receptor signaling pathway	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0000165	MAPK cascade	TAS	biological process
GO:0005088	Ras guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005102	receptor binding	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0007166	cell surface receptor signaling pathway	NAS	biological process
GO:0016167	glial cell-derived neurotrophic factor receptor activity	TAS	molecular function
GO:0019898	extrinsic component of membrane	TAS	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

Diseases

Associated diseases	References
Cancer	GAD: 16813162
Cancer (thyroid)	GAD: 12490080
Hirschsprung disease	GAD: 12624147
Hyperparathyroidism	GAD: 20424473
Alzheimer's disease	GAD: 16385451
Obstructive azoospermia	MIK: 20590666
Male factor infertility	MIK: 20590666
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Important for spermaogonial differentiation	MIK: 22056784
Obstructive and non-obstructive azoospermia	MIK: 20590666
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20590666	Obstructive and non-obstructive azoospermia				Male infertility	GFRalpha-1  integrin alpha6
22056784	Important for spermaogonial differentiation				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881