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Aliases for GFRA1 Gene

Aliases for GFRA1 Gene

  • GDNF Family Receptor Alpha 1 2 3 5
  • TGF-Beta-Related Neurotrophic Factor Receptor 1 3 4
  • GDNFR-Alpha-1 3 4
  • RET Ligand 1 3 4
  • GDNFRA 3 4
  • RETL1 3 4
  • TRNR1 3 4
  • Glial Cell Line-Derived Neurotrophic Factor Receptor Alpha 3
  • PI-Linked Cell-Surface Accessory Protein 3
  • GDNF Family Receptor Alpha-1 3
  • GPI-Linked Anchor Protein 3
  • GDNF Receptor Alpha-1 4
  • GFR-ALPHA-1 3
  • GFR-Alpha-1 4
  • GDNFR 3
  • RET1L 3

External Ids for GFRA1 Gene

Previous HGNC Symbols for GFRA1 Gene


Previous GeneCards Identifiers for GFRA1 Gene

  • GC10M116742
  • GC10M117066
  • GC10M117954
  • GC10M117487
  • GC10M117813
  • GC10M111444

Summaries for GFRA1 Gene

Entrez Gene Summary for GFRA1 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) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. This receptor is a glycosylphosphatidylinositol (GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for Hirschsprung disease. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

GeneCards Summary for GFRA1 Gene

GFRA1 (GDNF Family Receptor Alpha 1) is a Protein Coding gene. Diseases associated with GFRA1 include Hirschsprung Disease 1 and Jejunoileitis. Among its related pathways are RET signaling and Developmental Biology. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and glial cell-derived neurotrophic factor receptor activity. An important paralog of this gene is GFRA2.

UniProtKB/Swiss-Prot for GFRA1 Gene

  • Receptor for GDNF. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor (By similarity).

Gene Wiki entry for GFRA1 Gene

Additional gene information for GFRA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GFRA1 Gene

Genomics for GFRA1 Gene

GeneHancer (GH) Regulatory Elements for GFRA1 Gene

Promoters and enhancers for GFRA1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J116269 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 655.3 +1.0 1031 5.7 FOXA2 SIN3A FEZF1 GLI4 ZNF2 YY1 ZNF121 GLIS2 KLF7 ATF7 GFRA1 RPL5P27 MIR3663HG HSPA12A GC10M115985
GH10J116171 Enhancer 0.7 ENCODE 12.5 +102.5 102510 0.2 PKNOX1 INSM2 HIC1 ZNF213 POLR2A ZNF366 ZSCAN5C KLF8 ZNF189 ZEB2 GFRA1 GC10M115985
GH10J116194 Enhancer 0.6 dbSUPER 8.4 +78.6 78594 1.2 NANOG RXRA RAD21 ZBTB40 NR2F2 SP1 JUND ATF3 HNF4A GFRA1 GC10M115985
GH10J116296 Enhancer 0.4 ENCODE 12.1 -22.9 -22850 0.9 PRDM10 ATF2 GFRA1 C10orf82 GC10P116277 CCDC172
GH10J116044 Enhancer 0.6 ENCODE 5.2 +228.6 228637 0.8 FOXA2 NFIB RXRA REST RAD21 FOXA1 YY1 SP1 JUND ATF3 GFRA1 GC10M115985 GC10M115974
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GFRA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GFRA1 gene promoter:
  • Sp1
  • MRF-2
  • Zic3
  • TBP

Genomic Locations for GFRA1 Gene

Genomic Locations for GFRA1 Gene
216,690 bases
Minus strand
216,691 bases
Minus strand

Genomic View for GFRA1 Gene

Genes around GFRA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GFRA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GFRA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GFRA1 Gene

Proteins for GFRA1 Gene

  • Protein details for GFRA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    GDNF family receptor alpha-1
    Protein Accession:
    Secondary Accessions:
    • A8KA21
    • O15507
    • O43912

    Protein attributes for GFRA1 Gene

    465 amino acids
    Molecular mass:
    51456 Da
    Quaternary structure:
    • 2 molecules of GDNFR-alpha are thought to form a complex with the disulfide-linked GDNF dimer and with 2 molecules of RET.

    Alternative splice isoforms for GFRA1 Gene


neXtProt entry for GFRA1 Gene

Post-translational modifications for GFRA1 Gene

  • Glycosylation at Thr432, Asn406, isoforms=2347, and Asn59
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GFRA1 Gene

Domains & Families for GFRA1 Gene

Gene Families for GFRA1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for GFRA1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the GDNFR family.
  • Belongs to the GDNFR family.
genes like me logo Genes that share domains with GFRA1: view

Function for GFRA1 Gene

Molecular function for GFRA1 Gene

UniProtKB/Swiss-Prot Function:
Receptor for GDNF. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor (By similarity).
GENATLAS Biochemistry:
glial cell line derived neurotrophic factor (GDNF) receptor alpha-1,also receptor for neurturin,not (commonly) mutated in Hirschsprung disease,mediating the action of Ret protein receptor tyrosine kinase

Phenotypes From GWAS Catalog for GFRA1 Gene

Gene Ontology (GO) - Molecular Function for GFRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005102 signaling receptor binding TAS 9545641
GO:0016167 glial cell-derived neurotrophic factor receptor activity TAS 10829012
genes like me logo Genes that share ontologies with GFRA1: view
genes like me logo Genes that share phenotypes with GFRA1: view

Animal Models for GFRA1 Gene

MGI Knock Outs for GFRA1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GFRA1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GFRA1 Gene

Localization for GFRA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GFRA1 Gene

Cell membrane; Lipid-anchor, GPI-anchor.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GFRA1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 3
golgi apparatus 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GFRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0019898 extrinsic component of membrane TAS 10829012
genes like me logo Genes that share ontologies with GFRA1: view

Pathways & Interactions for GFRA1 Gene

SuperPathways for GFRA1 Gene

SuperPathway Contained pathways
1 RET signaling
2 GDNF-Family Ligands and Receptor Interactions
3 Developmental Biology
4 Cytokine Signaling in Immune system
5 Innate Immune System
genes like me logo Genes that share pathways with GFRA1: view

SIGNOR curated interactions for GFRA1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GFRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0007165 signal transduction IBA --
GO:0007166 cell surface receptor signaling pathway NAS 8674117
GO:0007399 nervous system development IBA,IEA --
GO:0007411 axon guidance TAS --
genes like me logo Genes that share ontologies with GFRA1: view

Drugs & Compounds for GFRA1 Gene

(7) Drugs for GFRA1 Gene - From: DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
PYM50028 Investigational Pharma 0
[<sup>125</sup>I]GDNF (rat) Pharma 0

(3) Additional Compounds for GFRA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GFRA1: view

Transcripts for GFRA1 Gene

Unigene Clusters for GFRA1 Gene

GDNF family receptor alpha 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GFRA1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GFRA1 Gene

No ASD Table

Relevant External Links for GFRA1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GFRA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GFRA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GFRA1 Gene

This gene is overexpressed in Amniocyte (31.2), Adipocyte (9.8), Cerebral cortex (8.6), and Heart (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GFRA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GFRA1 Gene:


SOURCE GeneReport for Unigene cluster for GFRA1 Gene:


Evidence on tissue expression from TISSUES for GFRA1 Gene

  • Nervous system(4.7)
  • Eye(4.3)
  • Kidney(4.3)
genes like me logo Genes that share expression patterns with GFRA1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GFRA1 Gene

Orthologs for GFRA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GFRA1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GFRA1 34 33
  • 99.78 (n)
(Canis familiaris)
Mammalia GFRA1 34 33
  • 92.77 (n)
(Bos Taurus)
Mammalia GFRA1 34 33
  • 91.89 (n)
(Rattus norvegicus)
Mammalia Gfra1 33
  • 89.18 (n)
(Mus musculus)
Mammalia Gfra1 16 34 33
  • 88.96 (n)
(Monodelphis domestica)
Mammalia GFRA1 34
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia GFRA1 34
  • 79 (a)
(Gallus gallus)
Aves GFRA1 34 33
  • 77.75 (n)
(Anolis carolinensis)
Reptilia GFRA1 34
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gfra1 33
  • 72.66 (n)
Str.12413 33
(Danio rerio)
Actinopterygii GFRA1 (2 of 3) 34
  • 74 (a)
gfra1a 34 33
  • 65.7 (n)
gfra1b 34
  • 58 (a)
-- 33
Species where no ortholog for GFRA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GFRA1 Gene

Gene Tree for GFRA1 (if available)
Gene Tree for GFRA1 (if available)
Evolutionary constrained regions (ECRs) for GFRA1: view image

Paralogs for GFRA1 Gene

Paralogs for GFRA1 Gene

(2) SIMAP similar genes for GFRA1 Gene using alignment to 3 proteins:

  • B7Z856_HUMAN
genes like me logo Genes that share paralogs with GFRA1: view

Variants for GFRA1 Gene

Sequence variations from dbSNP and Humsavar for GFRA1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs863223332 uncertain-significance, Hirschsprung disease 1 116,096,756(-) A/G coding_sequence_variant, missense_variant
rs1000000765 -- 116,112,611(-) C/T intron_variant
rs1000005589 -- 116,191,835(-) T/C intron_variant
rs1000007780 -- 116,245,171(-) C/G intron_variant
rs1000010167 -- 116,229,018(-) T/C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GFRA1 Gene

Variant ID Type Subtype PubMed ID
dgv520n106 CNV deletion 24896259
dgv521n106 CNV tandem duplication 24896259
esv1995539 CNV deletion 18987734
esv2076195 CNV deletion 18987734
esv2741239 CNV deletion 23290073
esv2741251 CNV deletion 23290073
esv2741262 CNV deletion 23290073
esv34187 CNV loss 18971310
esv3624650 CNV loss 21293372
esv3624651 CNV loss 21293372
nsv1043339 CNV loss 25217958
nsv471978 CNV novel sequence insertion 20440878
nsv519769 CNV gain 19592680
nsv7211 OTHER inversion 18451855
nsv832000 CNV gain 17160897
nsv975067 CNV deletion 23825009

Variation tolerance for GFRA1 Gene

Residual Variation Intolerance Score: 28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.26; 76.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GFRA1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GFRA1 Gene

Disorders for GFRA1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for GFRA1 Gene - From: HGMD, LncRNADisease, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GFRA1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GFRA1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GFRA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GFRA1 Gene

Publications for GFRA1 Gene

  1. Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility. (PMID: 9545641) Angrist M … Chakravarti A (Genomics 1998) 2 3 4 22 58
  2. Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association. (PMID: 19282698) Pini Prato A … Jasonni V (Medicine 2009) 3 22 44 58
  3. Molecular analysis of congenital central hypoventilation syndrome. (PMID: 14566559) Sasaki A … Hayasaka K (Human genetics 2003) 3 4 22 58
  4. Evaluation of germline sequence variants of GFRA1, GFRA2, and GFRA3 genes in a cohort of Spanish patients with sporadic medullary thyroid cancer. (PMID: 12490080) Borrego S … Antiñolo G (Thyroid : official journal of the American Thyroid Association 2002) 3 22 44 58
  5. Glial cell line-derived neurotrophic factor-dependent RET activation can be mediated by two different cell-surface accessory proteins. (PMID: 9177201) Sanicola M … Cate RL (Proceedings of the National Academy of Sciences of the United States of America 1997) 3 4 22 58

Products for GFRA1 Gene

Sources for GFRA1 Gene

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