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GFRA1 (GDNF family receptor alpha 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2674
Gene nameGene Name - the full gene name approved by the HGNC.
GDNF family receptor alpha 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
GFRA1
SynonymsGene synonyms aliases
GDNFR, GDNFR-alpha-1, GDNFRA, GFR-ALPHA-1, GFRalpha-1, RET1L, RETL1, RHDA4, TRNR1
ChromosomeChromosome number
10
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q25.3
SummarySummary of gene provided in NCBI Entrez Gene.
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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019251 hsa-miR-148b-3p Microarray 17612493
MIRT025678 hsa-miR-7-5p Microarray 17612493
MIRT606943 hsa-miR-4504 HITS-CLIP 23313552
MIRT606942 hsa-miR-542-3p HITS-CLIP 23313552
MIRT606941 hsa-miR-6867-5p HITS-CLIP 23313552
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0005102 Function Signaling receptor binding TAS 9545641
GO:0005771 Component Multivesicular body IEA
GO:0005794 Component Golgi apparatus IEA
GO:0005886 Component Plasma membrane TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P56159
Protein 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)
Protein 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 autophosphory
PDB 6Q2N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02351 GDNF
29 110
GDNF/GAS1 domain
Domain
PF02351 GDNF
154 233
GDNF/GAS1 domain
Domain
PF02351 GDNF
243 337
GDNF/GAS1 domain
Domain
Sequence
MFLATLYFALPLLDLLLSAEVSGGDRLDCVKASDQCLKEQSCSTKYRTLRQCVAGKETNF
SLASGLEAKDECRSAMEALKQKSLYNCRCKRGMKKEKNCLRIYWSMYQSL
QGNDLLEDSP
YEPVNSRLSDIFRVVPFISDVFQQVEHIPKGNNCLDAAKACNLDDICKKYRSAYITPCTT
SVSNDVCNRRKCHKALRQFFDKVPAKHSYGMLFCSCRDIACTERRRQTIVPVC
SYEEREK
PNCLNLQDSCKTNYICRSRLADFFTNCQPESRSVSSCLKENYADCLLAYSGLIGTVMTPN
YIDSSSLSVAPWCDCSNSGNDLEECLKFLNFFKDNTC
LKNAIQAFGNGSDVTVWQPAFPV
QTTTATTTTALRVKNKPLGPAGSENEIPTHVLPPCANLQAQKLKSNVSGNTHLCISNGNY
EKEGLGASSHITTKSMAAPPSCGLSPLLVLVVTALSTLLSLTETS
Sequence length 465
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    RAF/MAP kinase cascade
RET signaling
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Hirschsprung disease Hirschsprung Disease rs104893891, rs76262710, rs75075748, rs75996173, rs79014735, rs77316810, rs75076352, rs76087194, rs76534745, rs76764689, rs76449634, rs78098482, rs79661516, rs104894389, rs769735757, rs267606780, rs1568823467, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869 19196962
Rheumatoid arthritis Rheumatoid Arthritis rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212 26776603
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 20116071
Unknown
Disease name Disease term dbSNP ID References
Common migraine Common Migraine 28952330

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