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Aliases for GFRA1 Gene

Aliases for GFRA1 Gene

  • GDNF Family Receptor Alpha 1 2 3
  • GDNFRA 3 4 6
  • TGF-Beta-Related Neurotrophic Factor Receptor 1 3 4
  • GDNF Receptor Alpha-1 3 4
  • GDNFR-Alpha-1 3 4
  • RET Ligand 1 3 4
  • GFR-ALPHA-1 3 4
  • GDNFR 3 6
  • RETL1 3 4
  • TRNR1 3 4
  • Glial Cell Line-Derived Neurotrophic Factor Receptor Alpha 3
  • TGF-Beta Related Neurotrophic Factor Receptor 1 3
  • PI-Linked Cell-Surface Accessory Protein 3
  • GDNF Family Receptor Alpha-1 3
  • GPI-Linked Anchor Protein 3
  • RET1L 3

External Ids for GFRA1 Gene

Previous HGNC Symbols for GFRA1 Gene

  • GDNFRA

Previous GeneCards Identifiers for GFRA1 Gene

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

Summaries for GFRA1 Gene

Entrez Gene Summary for GFRA1 Gene

  • 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. The protein encoded by this gene is a member of the GDNF receptor family. It 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. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Feb 2009]

GeneCards Summary for GFRA1 Gene

GFRA1 (GDNF Family Receptor Alpha 1) is a Protein Coding gene. Among its related pathways are L1CAM interactions and L1CAM interactions. GO annotations related to this gene include receptor binding and integrin binding. 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

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

Genomics for GFRA1 Gene

Regulatory Elements for GFRA1 Gene

Transcription factor binding sites by QIAGEN in the GFRA1 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GFRA1 Gene

Start:
116,056,925 bp from pter
End:
116,273,614 bp from pter
Size:
216,690 bases
Orientation:
Minus strand

Genomic View for GFRA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    P56159-GFRA1_HUMAN
    Recommended name:
    GDNF family receptor alpha-1
    Protein Accession:
    P56159
    Secondary Accessions:
    • A8KA21
    • O15507
    • O43912

    Protein attributes for GFRA1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for GFRA1 Gene

Proteomics data for GFRA1 Gene at MOPED

Post-translational modifications for GFRA1 Gene

  • Glycosylation at Asn59, Asn347, Asn406, Thr432, and Thr433
  • Modification sites at PhosphoSitePlus

Other Protein References for GFRA1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for GFRA1 (GFR alpha-1/GDNF R alpha-1)

Protein Products

No data available for DME Specific Peptides for GFRA1 Gene

Domains for GFRA1 Gene

Gene Families for GFRA1 Gene

Suggested Antigen Peptide Sequences for GFRA1 Gene

Graphical View of Domain Structure for InterPro Entry

P56159

UniProtKB/Swiss-Prot:

GFRA1_HUMAN :
  • P56159
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

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
UniProtKB/Swiss-Prot Function:
Receptor for GDNF. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor (By similarity).

Gene Ontology (GO) - Molecular Function for GFRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 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

miRNA for GFRA1 Gene

miRTarBase miRNAs that target GFRA1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GFRA1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for GFRA1 Gene COMPARTMENTS Subcellular localization image for GFRA1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 1
golgi apparatus 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GFRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0019898 extrinsic component of membrane TAS 10829012
GO:0031225 anchored component of membrane IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with GFRA1: view

Pathways for GFRA1 Gene

genes like me logo Genes that share pathways with GFRA1: view

Pathways by source for GFRA1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for GFRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007166 cell surface receptor signaling pathway NAS 8674117
GO:0007399 nervous system development --
GO:0007411 axon guidance TAS --
GO:0035860 glial cell-derived neurotrophic factor receptor signaling pathway TAS 10829012
genes like me logo Genes that share ontologies with GFRA1: view

Compounds for GFRA1 Gene

(1) IUPHAR Ligand for GFRA1 Gene

Ligand Type Action Affinity Pubmed IDs
[125I]GDNF (rat) None None 11.52

(8) Novoseek inferred chemical compound relationships for GFRA1 Gene

Compound -log(P) Hits PubMed IDs
tyrosine 68.1 40
heparan sulfate 23.5 1
phosphatidylinositol 20.1 1
bromodeoxyuridine 11.4 1
heparin 7.22 5
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GFRA1

Primer Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for GFRA1 Gene

GeneLoc Exon Structure for
GFRA1
ECgene alternative splicing isoforms for
GFRA1

Expression for GFRA1 Gene

mRNA expression in normal human tissues for GFRA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues 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 from ProteomicsDB, PaxDb, MOPED, and MaxQB for GFRA1 Gene

SOURCE GeneReport for Unigene cluster for GFRA1 Gene Hs.388347

genes like me logo Genes that share expressions with GFRA1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Expression partners 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
cow
(Bos Taurus)
Mammalia GFRA1 35
  • 91.89 (n)
  • 95.8 (a)
GFRA1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GFRA1 35
  • 92.77 (n)
  • 95.35 (a)
GFRA1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gfra1 35
  • 88.96 (n)
  • 93.55 (a)
Gfra1 16
Gfra1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GFRA1 35
  • 99.78 (n)
  • 100 (a)
GFRA1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gfra1 35
  • 89.18 (n)
  • 93.33 (a)
oppossum
(Monodelphis domestica)
Mammalia GFRA1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GFRA1 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves GFRA1 35
  • 77.75 (n)
  • 80.74 (a)
GFRA1 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GFRA1 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gfra1 35
  • 72.66 (n)
  • 73.71 (a)
Str.12413 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
gfra1a 35
  • 65.7 (n)
  • 66.22 (a)
GFRA1 (2 of 3) 36
  • 74 (a)
OneToMany
gfra1a 36
  • 48 (a)
OneToMany
gfra1b 36
  • 58 (a)
OneToMany
Species with no ortholog for GFRA1:
  • 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

ENSEMBL:
Gene Tree for GFRA1 (if available)
TreeFam:
Gene Tree for GFRA1 (if available)

Paralogs for GFRA1 Gene

Paralogs for GFRA1 Gene

Selected SIMAP similar genes for GFRA1 Gene using alignment to 3 proteins:

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 Sequence Context AA Info Type MAF
rs15473 -- 116,057,144(+) TGTGA(A/G)GCAGC utr-variant-3-prime
rs180550 -- 116,060,689(+) AGCAA(C/G)ACAGA utr-variant-3-prime
rs180551 -- 116,059,360(+) AAGCC(C/T)AGCCT utr-variant-3-prime
rs180552 -- 116,059,331(+) CTACA(A/G)AAGAA utr-variant-3-prime
rs180553 -- 116,059,072(+) TCTCC(C/T)AGGTC utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv7211 OTHER Inversion 18451855
esv1995539 CNV Deletion 18987734
esv2741239 CNV Deletion 23290073
esv34187 CNV Loss 18971310
esv2741251 CNV Deletion 23290073
nsv832000 CNV Gain 17160897
esv2076195 CNV Deletion 18987734
esv2741262 CNV Deletion 23290073
nsv519769 CNV Gain 19592680

Relevant External Links for GFRA1 Gene

HapMap Linkage Disequilibrium report
GFRA1
Human Gene Mutation Database (HGMD)
GFRA1

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

Disorders for GFRA1 Gene

(2) University of Copenhagen DISEASES for GFRA1 Gene

(16) Novoseek inferred disease relationships for GFRA1 Gene

Disease -log(P) Hits PubMed IDs
hirschsprung disease 73.5 3
thyroid carcinoma medullary 66.4 1
men 2a 63.3 2
paroxysmal hemoglobinuria nocturnal 46.6 1
somatic mutations 42.2 1

Relevant External Links for GFRA1

Genetic Association Database (GAD)
GFRA1
Human Genome Epidemiology (HuGE) Navigator
GFRA1
genes like me logo Genes that share disorders with GFRA1: view

No data available for MalaCards , OMIM , 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 23
  2. Glial cell line-derived neurotrophic factor-dependent RET activation can be mediated by two different cell-surface accessory proteins. (PMID: 9177201) Sanicola M. … Cate R.L. (Proc. Natl. Acad. Sci. U.S.A. 1997) 3 4 23
  3. Assignment of the GDNF family receptor alpha-1 (GFRA1) to human chromosome band 10q26 by in situ hybridization. (PMID: 9465905) Gorodinsky A. … Milbrandt J. (Cytogenet. Cell Genet. 1997) 2 3 23
  4. Molecular analysis of congenital central hypoventilation syndrome. (PMID: 14566559) Sasaki A. … Hayasaka K. (Hum. Genet. 2003) 3 4 23
  5. 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. … AntiA+olo G. (Thyroid 2002) 3 23 48

Products for GFRA1 Gene

Sources for GFRA1 Gene

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