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Aliases & Descriptions for GFRA1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases DKFZp313E1012 2 DKFZp686J0156 2 FLJ10561 2 FLJ31546 2 GDNFR 1 , 2 , 5 GDNFR-alpha 3 GDNFRA 2 , 3 , 5 GFR-ALPHA-1 1 , 2 GFR-alpha-1 3 MGC23045 2 OTTHUMP00000020558 2 OTTHUMP00000020559 2 RET1L 1 , 2 RETL1 1 , 2 , 3 TRNR1 1 , 2 , 3
Descriptions GDNF family receptor alpha 1 2 GDNF receptor alpha 3 GPI-linked anchor protein 2 Glial cell line-derived neurotrophic factor receptor alpha 2 PI-linked cell-surface accessory protein 2 RET ligand 1 2 , 3 TGF-beta related neurotrophic factor receptor 1 2 TGF-beta-related neurotrophic factor receptor 1 3
Search outside databases for aliases for GFRA1 genePrevious GC identifers: GC10M116742 GC10M117066 GC10M117954 GC10M117487
Summaries for GFRA1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for GFRA1 : Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurallyrelated, potent neurotrophic factors that play key roles in the control of neuron survival anddifferentiation. 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 mediatesactivation of the RET tyrosine kinase receptor. This gene is a candidate gene for Hirschsprungdisease. Multiple alternatively spliced transcript variants have been described for this gene.[provided by RefSeq] UniProtKB/Swiss-Prot: GFRA1_HUMAN, P56159 Function : Receptor for GDNF. Mediates the GDNF-induced autophosphorylation and activation of theRET receptor (By similarity)
Gene Wiki entry for GFRA1 (GDNF_family_receptor_alpha_1)
Genomic Location for GFRA1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the GFRA1 gene Entrez Gene cytogenetic band: 10q26.11 Ensembl cytogenetic band: 10q25.3 HGNC cytogenetic band: 10q25-q26 GFRA1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 10 GeneLoc Exon Structure
GeneLoc location for GC10M117813:
(about GC identifiers )
Start:
117,812,943 bp from pter
End:
118,022,966 bp from pter
Size:
210,024 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000010.9 NT_030059.12 Proteins for GFRA1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: GFRA1_HUMAN, P56159 (See
protein sequence )Recommended Name: GDNF family receptor alpha-1 precursor Size : 465 amino acids; 51456 Da
Subunit : 2 molecules of GDNFR-alpha are thought to form a complex with the disulfide-linked GDNFdimer and with 2 molecules of RET (By similarity)
Subcellular location : Cell membrane; Lipid-anchor, GPI-anchor (By similarity)
Secondary accessions : O15507 O43912Alternative splicing : 2 isoforms : P56159-1 P56159-2
REFSEQ proteins (3 alternative transcripts):
NP_001138925.1 NP_005255.1 NP_665736.1 ENSEMBL proteins: ENSP00000347591 ENSP00000358237 ENSP00000358239 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for GFRA1: Assays for GFRA1:
Protein
Domains/ Families for GFRA1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P56159 ProtoNet protein and cluster: P56159
2 Blocks protein families : IPB003438 Glial cell line-derived neurotrophic factor receptor family signature IPB003503 Glial cell line-derived neurotrophic factor receptor alpha 1 signature UniProtKB/Swiss-Prot: GFRA1_HUMAN, P56159 Similarity : Belongs to the GDNFR family
Gene Function for GFRA1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
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Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_145793 Applied Biosystems Silencer ® siRNAs for GFRA1 Sigma-Aldrich siRNA for GFRA1 Sigma-Aldrich shRNA for GFRA1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001145453                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001145453                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001145453  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_005264 UniProtKB/Swiss-Prot: GFRA1_HUMAN, P56159 Function : Receptor for GDNF. Mediates the GDNF-induced autophosphorylation and activation of theRET receptor (By similarity)
Genatlas biochemistry entry for GFRA1 :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 tyrosinekinase
12 MGI mutant phenotypes (inferred from 6 alleles ) (MGI details for Gfra1) :3 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for GFRA1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for GFRA1 5/47 Interacting proteins for GFRA1 (ENSP00000347591 3 ) via UniProtKB, MINT, and/or STRING (see all 47
)About this table 1 Gene Ontology (GO) biological process term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0007166 cell surface receptor linked signal transduction
NAS 8674117
About this table
Drugs & Compounds for GFRA1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for GFRA1 5 Novoseek chemical compound relationships for GFRA1 gene
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Transcripts for GFRA1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_145793 Sigma-Aldrich siRNA for GFRA1 Sigma-Aldrich shRNA for GFRA1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_005264 NM_145793
REFSEQ mRNAs for GFRA1 gene (3 alternative transcripts): NM_001145453.1 NM_005264.4 NM_145793.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_005264 NM_145793
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001145453                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001145453                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001145453  
Additional cDNA sequence: AF038421.1 AF042080.1 AK001423.1 AK056108.1 AK292886.1 AK302914.1 AL832661.1 BC014962.1 BX648964.1 U97144.1
8 DOTS entries : DT.444548 DT.95193991 DT.121301711 DT.99930465 DT.100744652 DT.121301702 DT.311101 DT.92429609
24/68 AceView cDNA sequences (see all 68
):BU860284 AI092346 BX953721 AF042080 BG696764 BX953798 BM669624 AI804110 AI049675 CA449277 BX106828 CB161940 CA487395 AW263087 BG750968 NM_005264 U95847 AI638398 U97144 BX427432 W37956 BU857306 BU935138 AI467912
highest scoring ESTs for GFRA1 :AF038421 AA312082 AA471183 AA505897 AA512935 AA573164 AF042080 AI049675 AI470774 AI638398
Unigene Cluster for GFRA1: GDNF family receptor alpha 1 Hs.388347 [show with all ESTs ] Unigene Representative Sequence: NM_005264 GeneLoc Exon Structure 3 Ensembl transcripts including schematic representations : ENST00000355422
ENST00000369234
ENST00000369236
Expression for GFRA1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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GFRA1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for GFRA1 1 / 2 / 3
9 probe-sets matching GFRA1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.388347
Orthologs for GFRA1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for GFRA1 gene from 5/8 species (see all 8
)
About this table Species with no ortholog for GFRA1 ENSEMBL Gene Tree for GFRA1 Paralogs for GFRA1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for GFRA1 gene GFRA2 2 GFRA4 2
SNPs/Variants for GFRA1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for GFRA1 (up to first 250kb)
Disorders & Mutations for GFRA1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 601496 10/16 Novoseek disease relationships for GFRA1 gene (see all 16
)
About this table Human Gene Mutation Database : GFRA1 Genetic Association Database: GFRA1 Human Genome Epidemiology Navigator: GFRA1 (5 documents)
Medical News for GFRA1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for GFRA1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/156 PubMed articles for GFRA1 gene (see all 156
): Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility. (PubMed id 9545641) 1, 2, 3, 4 Angrist M....Chakravarti A. (1998) Glial cell line-derived neurotrophic factor-dependent RET activation can be mediated by two different cell-surface accessory proteins. (PubMed id 9177201) 1, 3, 4 Sanicola M.... Cate R.L. (1997) Molecular analysis of congenital central hypoventilation syndrome. (PubMed id 14566559) 1, 3, 4 Sasaki A.... Hayasaka K. (2003) Evaluation of germline sequence variants of GFRA1, GFRA2, and GFRA3 genes in a cohort of Spanish patients with sporadic medullary thyroid cancer. (PubMed id 12490080) 1, 3, 6 Borrego S....Antinolo G. (2002) Assignment of the GDNF family receptor alpha-1 (GFRA1) to human chromosome band 10q26 by in situ hybridization. (PubMed id 9465905) 1, 2, 3 Gorodinsky A....Milbrandt J. (1997) Large-scale search of single nucleotide polymorphisms for hepatocellular carcinoma susceptibility genes in patients with hepatitis C. (PubMed id 16175604) 3, 6 Kato N....Omata M. (2005) An unappreciated role for RNA surveillance. (PubMed id 14759258) 3, 4 Hillman R.T.... Brenner S.E. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease. (PubMed id 12624147) 3, 6 Borrego S....Eng C. (2003) Mutational analysis of the GDNF/RET-GDNFR-alpha signaling complex in a kindred with vesicoureteral reflux. (PubMed id 9600247) 3, 4 Shefelbine S.E.... Gagel R.F. (1998)
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Genome Databases showing GFRA1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing GFRA1
(According to HUGE )
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Specialized Databases showing GFRA1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for GFRA1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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