Details for: GFRA1

Gene ID: 2674

Symbol: GFRA1

Ensembl ID: ENSG00000151892

Description: GDNF family receptor alpha 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 2.33
    Marker Score: 3136
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 2.18
    Marker Score: 1372
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 2.17
    Marker Score: 2317
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 2.13
    Marker Score: 2001
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 2.03
    Marker Score: 68512
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.99
    Marker Score: 1985
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.86
    Marker Score: 1224
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.78
    Marker Score: 18367
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.6
    Marker Score: 1162
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.55
    Marker Score: 1914
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168858.5
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.47
    Marker Score: 2268
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 1.47
    Marker Score: 692
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.45
    Marker Score: 6022
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.43
    Marker Score: 1726
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.36
    Marker Score: 863
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.36
    Marker Score: 714
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.35
    Marker Score: 3175
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.32
    Marker Score: 11338
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.28
    Marker Score: 316
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.25
    Marker Score: 2543
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.21
    Marker Score: 2290.5
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4803
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.13
    Marker Score: 2170
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.11
    Marker Score: 2620
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.08
    Marker Score: 306
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.01
    Marker Score: 15817
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71810
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48034
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 504
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 458
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.96
    Marker Score: 399
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.96
    Marker Score: 574.5
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.93
    Marker Score: 2676.5
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5320
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.92
    Marker Score: 5941
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.92
    Marker Score: 370
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.92
    Marker Score: 1561
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2739
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.91
    Marker Score: 611
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.91
    Marker Score: 417.5
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.91
    Marker Score: 19319
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 324
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5281
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.87
    Marker Score: 5220
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 0.86
    Marker Score: 298
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.85
    Marker Score: 3661
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.84
    Marker Score: 902
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.83
    Marker Score: 630.5
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.8
    Marker Score: 695
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.8
    Marker Score: 897
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 706
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1256
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.77
    Marker Score: 178
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 393
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.74
    Marker Score: 1547
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.72
    Marker Score: 228
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.71
    Marker Score: 1440
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 0.7
    Marker Score: 416
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.7
    Marker Score: 314
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.69
    Marker Score: 335
  • Cell Name: Schwann cell precursor (CL0002375)
    Fold Change: 0.68
    Marker Score: 170
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.68
    Marker Score: 3637
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.68
    Marker Score: 792
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.67
    Marker Score: 840
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.67
    Marker Score: 732
  • Cell Name: bronchial smooth muscle cell (CL0002598)
    Fold Change: 0.66
    Marker Score: 186
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.65
    Marker Score: 311
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.64
    Marker Score: 620
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.62
    Marker Score: 273
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.62
    Marker Score: 8123
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.61
    Marker Score: 5791
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.59
    Marker Score: 444
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.57
    Marker Score: 238
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.56
    Marker Score: 384
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.56
    Marker Score: 371
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 148
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 443
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.55
    Marker Score: 2249.5
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 173
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.53
    Marker Score: 312
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.52
    Marker Score: 1367.5
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.52
    Marker Score: 18028
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.52
    Marker Score: 167
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.5
    Marker Score: 175
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.48
    Marker Score: 413
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.48
    Marker Score: 317
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.47
    Marker Score: 148
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 0.47
    Marker Score: 122
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.46
    Marker Score: 259
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.45
    Marker Score: 740
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.44
    Marker Score: 153
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.43
    Marker Score: 229
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 0.43
    Marker Score: 157
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 0.43
    Marker Score: 184
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.42
    Marker Score: 110
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.42
    Marker Score: 440

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Other Information

**Key characteristics** * GFRA1 is a transmembrane protein with a molecular weight of approximately 140 kDa. * It is expressed in high levels in the developing central nervous system and in some tissues in the periphery, including the kidney and liver. * It is a ligand for GDNF, a neurotrophic factor that is important for the survival, growth, and differentiation of neurons. **Pathways and functions** * GFRA1 is a receptor for GDNF, which is a potent neurotrophic factor. * When GDNF binds to GFRA1, it activates a signaling cascade that leads to the phosphorylation of a number of downstream proteins, including p42 MAPK and MAPK3. * These phosphorylation events promote the migration of neurons and the formation of new neurons. * In addition to its role in neuronal development, GFRA1 has also been shown to play a role in the regulation of epithelial cell migration and differentiation. **Clinical significance** Mutations in the GFRA1 gene have been linked to a number of human diseases, including autism, schizophrenia, and developmental disorders. These mutations can disrupt the normal signaling pathway of GDNF, leading to the loss of GDNF's effects on neurons. This can result in a variety of neurological and developmental problems. **Other important points** * GFRA1 is a highly conserved protein, with a similar sequence in mice and humans. * It is a member of the GDNF family of cell surface receptors, which are a large and diverse group of proteins that are involved in a variety of cellular processes. * It is a key player in neuronal development and function.

Genular Protein ID: 3820103487

Symbol: GFRA1_HUMAN

Name: GDNF family receptor alpha-1

UniProtKB Accession Codes:

P56159 A8KA21 O15507 O43912

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 27 EMDB 1 Ensembl 6 GO 22 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIRSF 1 PRINTS 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 3 RefSeq 7 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8674117

Title: GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF.

PubMed ID: 8674117

DOI: 10.1016/s0092-8674(00)81311-2

PubMed ID: 9177201

Title: Glial cell line-derived neurotrophic factor-dependent RET activation can be mediated by two different cell-surface accessory proteins.

PubMed ID: 9177201

DOI: 10.1073/pnas.94.12.6238

PubMed ID: 9545641

Title: Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility.

PubMed ID: 9545641

DOI: 10.1006/geno.1997.5191

PubMed ID: 9600247

Title: Mutational analysis of the GDNF/RET-GDNFR-alpha signaling complex in a kindred with vesicoureteral reflux.

PubMed ID: 9600247

DOI: 10.1007/s004390050724

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 14759258

Title: An unappreciated role for RNA surveillance.

PubMed ID: 14759258

DOI: 10.1186/gb-2004-5-2-r8

PubMed ID: 23333276

Title: SorLA controls neurotrophic activity by sorting of GDNF and its receptors GFRalpha1 and RET.

PubMed ID: 23333276

DOI: 10.1016/j.celrep.2012.12.011

PubMed ID: 33020172

Title: Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.

PubMed ID: 33020172

DOI: 10.1681/asn.2020040478

PubMed ID: 14566559

Title: Molecular analysis of congenital central hypoventilation syndrome.

PubMed ID: 14566559

DOI: 10.1007/s00439-003-1036-z

PubMed ID: 34737117

Title: Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis.

PubMed ID: 34737117

DOI: 10.1016/j.ejmg.2021.104376

Sequence Information:

  • Length: 465
  • Mass: 51456
  • Checksum: 91A550D06A6777BD
  • Sequence:
    • MFLATLYFAL PLLDLLLSAE VSGGDRLDCV KASDQCLKEQ SCSTKYRTLR QCVAGKETNF 
SLASGLEAKD ECRSAMEALK QKSLYNCRCK RGMKKEKNCL RIYWSMYQSL QGNDLLEDSP 
YEPVNSRLSD IFRVVPFISD VFQQVEHIPK GNNCLDAAKA CNLDDICKKY RSAYITPCTT 
SVSNDVCNRR KCHKALRQFF DKVPAKHSYG MLFCSCRDIA CTERRRQTIV PVCSYEEREK 
PNCLNLQDSC KTNYICRSRL ADFFTNCQPE SRSVSSCLKE NYADCLLAYS GLIGTVMTPN 
YIDSSSLSVA PWCDCSNSGN DLEECLKFLN FFKDNTCLKN AIQAFGNGSD VTVWQPAFPV 
QTTTATTTTA LRVKNKPLGP AGSENEIPTH VLPPCANLQA QKLKSNVSGN THLCISNGNY 
EKEGLGASSH ITTKSMAAPP SCGLSPLLVL VVTALSTLLS LTETS

Genular Protein ID: 86007852

Symbol: B7Z856_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7Z856

Database IDs:

ARBA 6 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 2 GO 2 Gene3D 1 GenomeRNAi 1 InterPro 3 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PeptideAtlas 1 Pfam 1 ProteomicsDB 1 RefSeq 1 SMART 2 SUPFAM 1

Sequence Information:

  • Length: 344
  • Mass: 37713
  • Checksum: 4359FD2C57E371F1
  • Sequence:
    • MQEGKFWKGM AETGMWGCGE WIPVEHIPKG NNCLDAAKAC NLDDICKKYR SAYITPCTTS 
VSNDVCNRRK CHKALRQFFD KVPAKHSYGM LFCSCRDIAC TERRRQTIVP VCSYEEREKP 
NCLNLQDSCK TNYICRSRLA DFFTNCQPES RSVSSCLKEN YADCLLAYSG LIGTVMTPNY 
IDSSSLSVAP WCDCSNSGND LEECLKFLNF FKDNTCLKNA IQAFGNGSDV TVWQPAFPVQ 
TTTATTTTAL RVKNKPLGPA GSENEIPTHV LPPCANLQAQ KLKSNVSGNT HLCISNGNYE 
KEGLGASSHI TTKSMAAPPS CGLSPLLVLV VTALSTLLSL TETS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.