Gene Gene information from NCBI Gene database.
Entrez ID 2674
Gene name GDNF family receptor alpha 1
Gene symbol GFRA1
Synonyms (NCBI Gene)
GDNFRGDNFR-alpha-1GDNFRAGFR-ALPHA-1GFRalpha-1RET1LRETL1RHDA4TRNR1
Chromosome 10
Chromosome location 10q25.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
1536
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0001822 Process Kidney development IEA
GO:0005030 Function Neurotrophin receptor activity IEA
GO:0005102 Function Signaling receptor binding TAS 9545641
GO:0005178 Function Integrin binding IEA
GO:0005515 Function Protein binding IPI 23333276
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601496 4243 ENSG00000151892
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    RAF/MAP kinase cascade
RET signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
22
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Renal hypodysplasia/aplasia 4 Likely pathogenic; Pathogenic rs191814086, rs2133762469, rs746138428 RCV002248437
RCV002248438
RCV002248439
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aganglionic megacolon Uncertain significance rs1589930581 RCV000984709
Familial cancer of breast Uncertain significance rs138886956 RCV005932371
GFRA1-related disorder Benign; Likely benign rs8192662, rs376239327, rs371052783, rs34371262, rs2245020, rs199939826, rs372156491, rs372028199, rs200334587, rs374020279, rs2072276, rs138633134, rs76248338, rs76531145 RCV003976190
RCV003921896
RCV003904174
RCV003912175
RCV003977364
RCV003961560
RCV003963872
RCV003941425
RCV003926910
RCV003976913
RCV003982109
RCV003947257
RCV003916210
RCV003916173
Hirschsprung disease, susceptibility to, 1 Uncertain significance rs863223332 RCV000201303
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 26867769
Alzheimer Disease Associate 25253858
Brain Neoplasms Associate 10408842
Breast Neoplasms Stimulate 23351331
Breast Neoplasms Associate 23650283, 24641868, 33838601
Cakut Associate 22729463, 36292572
Carcinoma Adenoid Cystic Associate 33628594
Carcinoma Hepatocellular Associate 31545220, 33215421
Colorectal Neoplasms Associate 27566576
Diabetes Gestational Associate 35721735