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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

Annotation

Keyword

3D-structure
Alternative splicing
Cell membrane
Disease variant
Disulfide bond
Endosome
GPI-anchor
Glycoprotein
Golgi apparatus
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 9 in total

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GO Term	Evidence Code	PMID
neurotrophin signaling pathway	IEA
cell migration	IEA
nervous system development	IBA
positive regulation of peptidyl-tyrosine phosphorylation	IEA
glial cell-derived neurotrophic factor receptor signaling pathway	IDA	31535977

GO Hierarchy

biological process

cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway

enzyme-linked receptor protein signaling pathway [inference]

transmembrane receptor protein tyrosine kinase signaling pathway [inference]

glial cell-derived neurotrophic factor receptor signaling pathway

neurotrophin signaling pathway

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

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

positive regulation of metabolic process [inference]

positive regulation of macromolecule metabolic process [inference]

positive regulation of protein metabolic process [inference]

positive regulation of protein modification process [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

positive regulation of cellular metabolic process [inference]

positive regulation of phosphorus metabolic process [inference]

positive regulation of phosphate metabolic process [inference]

positive regulation of phosphorylation [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of protein metabolic process [inference]

positive regulation of protein modification process [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

regulation of cellular metabolic process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of phosphorus metabolic process [inference]

positive regulation of phosphate metabolic process [inference]

positive regulation of phosphorylation [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

regulation of phosphorus metabolic process [inference]

positive regulation of phosphorus metabolic process [inference]

positive regulation of phosphate metabolic process [inference]

positive regulation of phosphorylation [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

regulation of phosphate metabolic process [inference]

regulation of phosphorylation [inference]

regulation of protein phosphorylation [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

regulation of peptidyl-tyrosine phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

positive regulation of phosphorylation [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

positive regulation of phosphate metabolic process [inference]

positive regulation of phosphorylation [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

regulation of nitrogen compound metabolic process [inference]

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of protein metabolic process [inference]

positive regulation of protein modification process [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

regulation of protein metabolic process [inference]

regulation of protein modification process [inference]

regulation of protein phosphorylation [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

regulation of peptidyl-tyrosine phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

positive regulation of protein modification process [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

positive regulation of protein metabolic process [inference]

positive regulation of protein modification process [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule metabolic process [inference]

positive regulation of protein metabolic process [inference]

positive regulation of protein modification process [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

regulation of protein metabolic process [inference]

regulation of protein modification process [inference]

regulation of protein phosphorylation [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

regulation of peptidyl-tyrosine phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

positive regulation of protein modification process [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

positive regulation of protein metabolic process [inference]

positive regulation of protein modification process [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

regulation of primary metabolic process [inference]

regulation of protein metabolic process [inference]

regulation of protein modification process [inference]

regulation of protein phosphorylation [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

regulation of peptidyl-tyrosine phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

positive regulation of protein modification process [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

positive regulation of protein metabolic process [inference]

positive regulation of protein modification process [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

positive regulation of biological process [inference]

positive regulation of metabolic process [inference]

positive regulation of macromolecule metabolic process [inference]

positive regulation of protein metabolic process [inference]

positive regulation of protein modification process [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

positive regulation of cellular metabolic process [inference]

positive regulation of phosphorus metabolic process [inference]

positive regulation of phosphate metabolic process [inference]

positive regulation of phosphorylation [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

positive regulation of nitrogen compound metabolic process [inference]

positive regulation of protein metabolic process [inference]

positive regulation of protein modification process [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of phosphorus metabolic process [inference]

positive regulation of phosphate metabolic process [inference]

positive regulation of phosphorylation [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway

enzyme-linked receptor protein signaling pathway [inference]

transmembrane receptor protein tyrosine kinase signaling pathway [inference]

glial cell-derived neurotrophic factor receptor signaling pathway

neurotrophin signaling pathway

regulation of cellular metabolic process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of phosphorus metabolic process [inference]

positive regulation of phosphate metabolic process [inference]

positive regulation of phosphorylation [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

regulation of phosphorus metabolic process [inference]

positive regulation of phosphorus metabolic process [inference]

positive regulation of phosphate metabolic process [inference]

positive regulation of phosphorylation [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

regulation of phosphate metabolic process [inference]

regulation of phosphorylation [inference]

regulation of protein phosphorylation [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

regulation of peptidyl-tyrosine phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

positive regulation of phosphorylation [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

positive regulation of phosphate metabolic process [inference]

positive regulation of phosphorylation [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of phosphorus metabolic process [inference]

positive regulation of phosphate metabolic process [inference]

positive regulation of phosphorylation [inference]

positive regulation of protein phosphorylation [inference]

positive regulation of peptidyl-tyrosine phosphorylation

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
receptor complex	IBA
extrinsic component of membrane		10829012
external side of plasma membrane	IBA
axon	IEA
neuronal cell body	IEA

GO Hierarchy

cellular component

protein-containing complex [inference]

receptor complex

membrane protein complex [inference]

plasma membrane protein complex

cellular anatomical entity [inference]

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 [inference]

late endosome [inference]

multivesicular body

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

Golgi apparatus

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome [inference]

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 [inference]

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 [inference]

external side of plasma membrane

Displaying **all 5** entries
GO Term	Evidence Code	PMID
glial cell-derived neurotrophic factor receptor activity	IDA	31535977
neurotrophin receptor activity	IEA
integrin binding	IEA
signaling receptor binding		9545641
signaling receptor activity	IBA

GO Hierarchy

molecular function

binding [inference]

protein binding [inference]

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.

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 entries **31 - 40** of 90 in total

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DO ID	Disease Name	Source
DOID:1319	brain cancer	DisGeNET
DOID:13198	endemic goiter	DisGeNET
DOID:13200	substernal goiter	DisGeNET
DOID:13548	secondary Parkinson disease	DisGeNET
DOID:1389	polyneuropathy	DisGeNET
DOID:1443	cerebral degeneration	DisGeNET
DOID:14525	Reye syndrome	DisGeNET
DOID:14766	renal agenesis	Alliance of Genome Resources
DOID:1612	breast cancer	DisGeNET DisGeNET
DOID:162	cancer	DisGeNET DisGeNET DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 23 in total

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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

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:1848	bilateral renal agenesis
OMIM:619887	renal hypodysplasia/aplasia 4

PubChem Disease

MedGen Diseases

Renal hypodysplasia/aplasia 4

OMIM Phenotypes

RENAL HYPODYSPLASIA/APLASIA 4; RHDA4

KEGG Diseases

Renal hypodysplasia and aplasia

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **31 - 40** of 62 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Bos taurus	534801		BOVIN21611
Capra hircus	102189457		CAPHI17653
Oryctolagus cuniculus	100338839		RABIT07046
Dipodomys ordii	105986774		DIPOR07371
Mus musculus	14585	MGI:1100842	MOUSE25171
Rattus norvegicus	25454	RGD:2681	RATNO21135
Cavia porcellus	100720930		CAVPO00730
Octodon degus	101572142		OCTDE26054
Monodelphis domestica	100027114		MONDO01709
Pelodiscus sinensis	102445656		PELSI03576

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements