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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
  • GFR-ALPHA-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
  • GPI-Linked Anchor Protein 3
  • GDNF Receptor Alpha-1 4
  • GDNFR 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

  • 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 jejunoileitis and medullary thyroid carcinoma, familial. Among its related pathways are Signaling by GPCR and Immune System. GO annotations related to this gene include 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

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

Promoters for GFRA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GFRA1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for GFRA1 Gene

Chromosome:
10
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

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:
    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 Asn 59, Asn 347, Asn 406, and Thr 432
  • Modification sites at PhosphoSitePlus

Other Protein References for GFRA1 Gene

Antibody Products

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

No data available for DME Specific Peptides for GFRA1 Gene

Domains & Families 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 :
  • Belongs to the GDNFR family.
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:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
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

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

COMPARTMENTS
Jensen Localization Image for GFRA1 Gene COMPARTMENTS Subcellular localization image for GFRA1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
nucleus 3
golgi apparatus 2
chloroplast 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for GFRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with GFRA1: view

Pathways & Interactions for GFRA1 Gene

SuperPathways for GFRA1 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Signaling by GPCR
3 Immune System
4 Developmental Biology
5 GDNF-Family Ligands and Receptor Interactions
genes like me logo Genes that share pathways with GFRA1: view

Pathways by source for GFRA1 Gene

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:0007166 cell surface receptor signaling pathway NAS 8674117
genes like me logo Genes that share ontologies with GFRA1: view

Drugs & Compounds for GFRA1 Gene

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

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:

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 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, PaxDb, MOPED, and MaxQB for GFRA1 Gene



SOURCE GeneReport for Unigene cluster for GFRA1 Gene Hs.388347

genes like me logo Genes that share expression patterns with GFRA1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-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

(2) 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
rs8192662 - 116,270,903(-) CGCTC(A/T)ACAAC reference, missense
rs2072276 - 116,089,842(-) CTGCC(A/G)CTACC reference, missense
VAR_018261 -
rs15473 -- 116,057,144(+) TGTGA(A/G)GCAGC utr-variant-3-prime
rs180550 -- 116,060,689(+) AGCAA(C/G)ACAGA 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

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)

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

MalaCards: The human disease database

(9) MalaCards diseases for GFRA1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
jejunoileitis
medullary thyroid carcinoma, familial
  • medullary thyroid carcinoma
multiple endocrine neoplasia iia
  • multiple endocrine neoplasia type 2a
hirschsprung disease 1
  • hirschsprung's disease
paroxysmal nocturnal hemoglobinuria
  • marchiafava-micheli disease
- elite association - COSMIC cancer census association via MalaCards
Search GFRA1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GFRA1

Genetic Association Database (GAD)
GFRA1
Human Genome Epidemiology (HuGE) Navigator
GFRA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GFRA1
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 23 67
  2. 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
  3. Glial cell line-derived neurotrophic factor (GDNF) and its receptors in human ovaries from fetuses, girls, and women. (PMID: 19896648) Farhi J. … Abir R. (Fertil. Steril. 2010) 3 23
  4. Expression of GDNF receptors GFRalpha1 and RET is preserved in substantia nigra pars compacta of aging Asian Indians. (PMID: 20347960) Alladi P.A. … Muthane U. (J. Chem. Neuroanat. 2010) 3 23
  5. Persephin signaling through GFRalpha1: the potential for the treatment of Parkinson's disease. (PMID: 20350599) Sidorova Y.A. … Bespalov M.M. (Mol. Cell. Neurosci. 2010) 3 23

Products for GFRA1 Gene

Sources for GFRA1 Gene

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