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GDNF family receptor alpha 1

Summary

Gene Symbol

GFRA1

Aliases

GDNFR
GFR-ALPHA-1
RET1L
RETL1
TRNR1

Organism

Homo sapiens (human)

External Links

NCBI Gene

2674

HGNC

4243

KEGG Gene ID

hsa:2674

PubChem

2674

Alliance of Genome Resources

HGNC:4243

JoGo

GFRA1

TogoVar

GFRA1

Annotation

Keyword

3D-structure
Alternative splicing
Cell membrane
Disease variant
Disulfide bond
Endosome
GPI-anchor
Golgi apparatus
Proteomics identification
Receptor
Reference proteome
Repeat
Signal

Proteins

Displaying **all 2** entries
UniProt	Protein Name
P56159	RET ligand 1 TGF-beta-related neurotrophic factor receptor 1
B7Z856

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 11 in total

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GO Term	Evidence Code	PMID
kidney development	IEA
cell surface receptor signaling pathway	NAS
cell surface receptor protein tyrosine kinase signaling pathway	IEA
nervous system development	IBA
male gonad development	IEA

GO Hierarchy

biological process

cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway

enzyme-linked receptor protein signaling pathway [inference]

cell surface receptor protein tyrosine kinase signaling pathway

glial cell-derived neurotrophic factor receptor signaling pathway

neurotrophin signaling pathway

cellular developmental process [inference]

cell differentiation [inference]

neuron differentiation

cell motility [inference]

cell migration

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cell projection organization [inference]

plasma membrane bounded cell projection organization [inference]

neuron projection development

reproductive process [inference]

developmental process involved in reproduction [inference]

reproductive structure development [inference]

gonad development [inference]

male gonad development

developmental process [inference]

developmental process involved in reproduction [inference]

reproductive structure development [inference]

gonad development [inference]

male gonad development

anatomical structure development [inference]

animal organ development [inference]

kidney development

gonad development [inference]

male gonad development

reproductive structure development [inference]

gonad development [inference]

male gonad development

system development [inference]

nervous system development

cellular developmental process [inference]

cell differentiation [inference]

neuron differentiation

biological regulation [inference]

regulation of biological process [inference]

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway

enzyme-linked receptor protein signaling pathway [inference]

cell surface receptor protein tyrosine kinase signaling pathway

glial cell-derived neurotrophic factor receptor signaling pathway

neurotrophin signaling pathway

Displaying entries **1 - 5** of 18 in total

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GO Term	Evidence Code	PMID
extracellular region	IEA
endosome	IEA
multivesicular body	IEA
Golgi apparatus	IEA
plasma membrane	ISS

GO Hierarchy

cellular component

protein-containing complex [inference]

signaling receptor complex

membrane protein complex [inference]

plasma membrane protein complex

cellular anatomical structure [inference]

extracellular region

membrane [inference]

plasma membrane

extrinsic component of membrane

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection [inference]

axon

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome

late endosome [inference]

multivesicular body

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

Golgi apparatus

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome

late endosome [inference]

multivesicular body

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome

late endosome [inference]

multivesicular body

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

cell body [inference]

neuronal cell body

side of membrane

external side of plasma membrane

Displaying entries **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
neurotrophin receptor activity	IEA
signaling receptor binding	TAS
integrin binding	IEA
protein binding	IPI
glial cell-derived neurotrophic factor receptor activity	TAS

GO Hierarchy

molecular function

binding [inference]

protein binding

signaling receptor binding

integrin binding

cell adhesion molecule binding [inference]

integrin binding

protein-containing complex binding [inference]

integrin binding

molecular transducer activity [inference]

signaling receptor activity

transmembrane signaling receptor activity [inference]

cytokine receptor activity [inference]

glial cell-derived neurotrophic factor receptor activity

neurotrophin receptor activity

immune receptor activity [inference]

cytokine receptor activity [inference]

glial cell-derived neurotrophic factor receptor activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

GDNF receptor alpha-2

Functional Category

G: Carbohydrate transport and metabolism
I: Lipid transport and metabolism
T: Signal transduction mechanisms

Displaying **all 2** entries
Gene Ontology
glial cell-derived neurotrophic factor receptor activity
nervous system development

Displaying **all 4** entries
InterPro
GDNF receptor alpha
GDNF/GAS1
Glial cell line-derived neurotrophic factor receptor, alpha 1/2
Glial cell line-derived neurotrophic factor receptor

Human Protein Atlas

ENSG00000151892

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K19895

Name

GDNF family receptor alpha

References

8674117

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:14766	renal agenesis	Alliance of Genome Resources

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000008	Abnormal morphology of female internal genitalia
HP:0000104	Renal agenesis
HP:0000175	Cleft palate
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000369	Low-set ears
HP:0000457	Depressed nasal ridge
HP:0001562	Oligohydramnios
HP:0001563	Fetal polyuria