GFRA1
entrez
2674
canonical
uniprot
P56159
canonical
ensembl
ENSG00000151892
resolver
ensp
ENSP00000347591
resolver
ensp
ENSP00000358239
resolver
ensp
ENSP00000393725
resolver
ensp
ENSP00000506818
resolver
ensp
ENSP00000507970
resolver
ensp
ENSP00000531496
resolver
ensp
ENSP00000622681
resolver
genesymbol
GFRA1
resolver
genesymbol_syn
GDNFRA
resolver
genesymbol_syn
RETL1
resolver
genesymbol_syn
TRNR1
resolver
hgnc
HGNC:4243
resolver
uniprot
A8KA21
resolver
uniprot
B7Z856
resolver
uniprot
O15507
resolver
uniprot
O43912
resolver
uniprot_entry
B7Z856_HUMAN
resolver
uniprot_entry
GFRA1_HUMAN
resolver
uniprot_sec
A8KA21
resolver
uniprot_sec
O15507
resolver
uniprot_sec
O43912
resolver
amino_acid_sequence
MFLATLYFALPLLDLLLSAEVSGGDRLDCVKASDQCLKEQSCSTKYRTLRQCVAGKETNFSLASGLEAKDECRSAMEALKQKSLYNCRCKRGMKKEKNCLRIYWSMYQSLQGNDLLEDSPYEPVNSRLSDIFRVVPFISDVFQQVEHIPKGNNCLDAAKACNLDDICKKYRSAYITPCTTSVSNDVCNRRKCHKALRQFFDKVPAKHSYGMLFCSCRDIACTERRRQTIVPVCSYEEREKPNCLNLQDSCKTNYICRSRLADFFTNCQPESRSVSSCLKENYADCLLAYSGLIGTVMTPNYIDSSSLSVAPWCDCSNSGNDLEECLKFLNFFKDNTCLKNAIQAFGNGSDVTVWQPAFPVQTTTATTTTALRVKNKPLGPAGSENEIPTHVLPPCANLQAQKLKSNVSGNTHLCISNGNYEKEGLGASSHITTKSMAAPPSCGLSPLLVLVVTALSTLLSLTETS
uniprot
proteins
disease_involvement
DISEASE: Renal hypodysplasia/aplasia 4 (RHDA4) [MIM:619887]: An autosomal recessive, severe congenital anomaly of the kidney and urinary tract characterized by bilateral renal agenesis, and severely reduced or absent amniotic fluid during pregnancy. Patients exhibit the Potter sequence, including flattened nose, ear anomalies, and receding chin. Some affected individuals have limb contractures and joint dislocations. Bilateral renal agenesis is almost invariably fatal in utero or in the perinatal period. {ECO:0000269|PubMed:33020172, ECO:0000269|PubMed:34737117}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Coreceptor for GDNF, a neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake (PubMed:10829012, PubMed:31535977). GDNF-binding leads to autophosphorylation and activation of the RET receptor (PubMed:31535977). {ECO:0000269|PubMed:10829012, ECO:0000269|PubMed:31535977}.
uniprot
proteins
mass_dalton
51456
uniprot
proteins
protein_family
GDNFR family
uniprot
proteins
pubmed
10829012
uniprot
proteins
pubmed
14566559
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14759258
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
23333276
uniprot
proteins
pubmed
31535977
uniprot
proteins
pubmed
33020172
uniprot
proteins
pubmed
34737117
uniprot
proteins
pubmed
8674117
uniprot
proteins
pubmed
9177201
uniprot
proteins
pubmed
9545641
uniprot
proteins
pubmed
9600247
uniprot
proteins
sequence_length
465
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q62997}; Lipid-anchor, GPI-anchor {ECO:0000250|UniProtKB:Q62997}. Golgi apparatus, trans-Golgi network {ECO:0000250|UniProtKB:Q62997}. Endosome {ECO:0000250|UniProtKB:Q62997}. Endosome, multivesicular body {ECO:0000250|UniProtKB:Q62997}. Note=Localizes mainly to the plasma membrane. In the presence of SORL1, shifts to vesicular structures, including trans-Golgi network, endosomes and multivesicular bodies. {ECO:0000250|UniProtKB:Q62997}.
uniprot
proteins