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GFRA1

From Wikipedia, the free encyclopedia
(Redirected fromGFRα1)
Protein-coding gene in the species Homo sapiens

GFRA1
Identifiers
AliasesGFRA1, GDNFR, GDNFRA, GFR-ALPHA-1, RET1L, RETL1, TRNR1, GDNF family receptor alpha 1
External IDsOMIM:601496;MGI:1100842;HomoloGene:3855;GeneCards:GFRA1;OMA:GFRA1 - orthologs
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for GFRA1
Genomic location for GFRA1
Band10q25.3Start116,056,925bp[1]
End116,273,467bp[1]
Gene location (Mouse)
Chromosome 19 (mouse)
Chr.Chromosome 19 (mouse)[2]
Chromosome 19 (mouse)
Genomic location for GFRA1
Genomic location for GFRA1
Band19 D2|19 54.18 cMStart58,224,036bp[2]
End58,444,341bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • trigeminal ganglion

  • spinal ganglia

  • pars reticulata

  • parietal pleura

  • corpus epididymis

  • lactiferous duct

  • pars compacta

  • nipple

  • left uterine tube

  • cardia
Top expressed in
  • vestibular membrane of cochlear duct

  • habenula

  • facial motor nucleus

  • dentate gyrus of hippocampal formation granule cell

  • left lobe of liver

  • lateral septal nucleus

  • iris

  • medullary collecting duct

  • ciliary body

  • substantia nigra
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

2674

14585

Ensembl

ENSG00000151892

ENSMUSG00000025089

UniProt

P56159

P97785

RefSeq (mRNA)
NM_001145453
NM_005264
NM_145793
NM_001348096
NM_001348098

NM_001348099

NM_001285457
NM_010279

RefSeq (protein)
NP_001138925
NP_005255
NP_665736
NP_001335025
NP_001335027

NP_001335028
NP_001369485
NP_001369486
NP_001369487
NP_001369488
NP_001369489
NP_001369490

NP_001272386
NP_034409

Location (UCSC)Chr 10: 116.06 – 116.27 MbChr 19: 58.22 – 58.44 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

GDNF family receptor alpha-1 (GFRα1), also known as theGDNF receptor, is aprotein that in humans is encoded by theGFRA1gene.[5][6]

Function

[edit]

Glial cell line-derived neurotrophic factor (GDNF) andneurturin (NTN) are two structurally related, potentneurotrophic 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 aglycosylphosphatidylinositol(GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of theRETtyrosine kinase receptor. This gene is acandidate gene forHirschsprung disease. Twoalternatively spliced transcript variants encoding differentisoforms have been described for this gene.[7]

Interactions

[edit]

GDNF family receptor alpha 1 has been shown tointeract with GDNF[8][9] and RET proto-oncogene.[9][10]

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000151892Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000025089Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^Gorodinsky A, Zimonjic DB, Popescu NC, Milbrandt J (March 1998). "Assignment of the GDNF family receptor alpha-1 (GFRA1) to human chromosome band 10q26 by in situ hybridization".Cytogenetics and Cell Genetics.78 (3–4):289–90.doi:10.1159/000134674.PMID 9465905.
  6. ^Angrist M, Jing S, Bolk S, Bentley K, Nallasamy S, Halushka M, Fox GM, Chakravarti A (Mar 1998). "Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility".Genomics.48 (3):354–62.doi:10.1006/geno.1997.5191.PMID 9545641.
  7. ^"Entrez Gene: GFRA1 GDNF family receptor alpha 1".
  8. ^Jing S, Yu Y, Fang M, Hu Z, Holst PL, Boone T, Delaney J, Schultz H, Zhou R, Fox GM (Dec 1997)."GFRalpha-2 and GFRalpha-3 are two new receptors for ligands of the GDNF family".The Journal of Biological Chemistry.272 (52):33111–7.doi:10.1074/jbc.272.52.33111.PMID 9407096.
  9. ^abCik M, Masure S, Lesage AS, Van Der Linden I, Van Gompel P, Pangalos MN, Gordon RD, Leysen JE (Sep 2000)."Binding of GDNF and neurturin to human GDNF family receptor alpha 1 and 2. Influence of cRET and cooperative interactions".The Journal of Biological Chemistry.275 (36):27505–12.doi:10.1074/jbc.M000306200.PMID 10829012.
  10. ^Klein RD, Sherman D, Ho WH, Stone D, Bennett GL, Moffat B, Vandlen R, Simmons L, Gu Q, Hongo JA, Devaux B, Poulsen K, Armanini M, Nozaki C, Asai N, Goddard A, Phillips H, Henderson CE, Takahashi M, Rosenthal A (Jun 1997)."A GPI-linked protein that interacts with Ret to form a candidate neurturin receptor".Nature.387 (6634):717–21.Bibcode:1997Natur.387..717K.doi:10.1038/42722.PMID 9192898.S2CID 4360246.

Further reading

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External links

[edit]
  • Overview of all the structural information available in thePDB forUniProt:P56159 (GDNF family receptor alpha-1) at thePDBe-KB.
PDB gallery
  • 1q8d: The crystal structure of GDNF family co-receptor alpha 1 domain 3
    1q8d: The crystal structure of GDNF family co-receptor alpha 1 domain 3
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