Seroatlas · Human Serome Atlas

GFRA1

GDNF family receptor alpha-1

Also known as: GDNFR, GDNFRA, GFR-ALPHA-1, GFRA1_HUMAN, RET1L, RETL1, TRNR1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P56159
Gene
GFRA1
Ensembl
ENSG00000151892
Chromosome
10
Canonical length
465 aa
Protein class
Disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Nucleoplasm,Golgi apparatus

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

465 residues, UniProt reviewed canonical sequence.

>P56159|GFRA1
     1  MFLATLYFAL PLLDLLLSAE VSGGDRLDCV KASDQCLKEQ SCSTKYRTLR QCVAGKETNF
    61  SLASGLEAKD ECRSAMEALK QKSLYNCRCK RGMKKEKNCL RIYWSMYQSL QGNDLLEDSP
   121  YEPVNSRLSD IFRVVPFISD VFQQVEHIPK GNNCLDAAKA CNLDDICKKY RSAYITPCTT
   181  SVSNDVCNRR KCHKALRQFF DKVPAKHSYG MLFCSCRDIA CTERRRQTIV PVCSYEEREK
   241  PNCLNLQDSC KTNYICRSRL ADFFTNCQPE SRSVSSCLKE NYADCLLAYS GLIGTVMTPN
   301  YIDSSSLSVA PWCDCSNSGN DLEECLKFLN FFKDNTCLKN AIQAFGNGSD VTVWQPAFPV
   361  QTTTATTTTA LRVKNKPLGP AGSENEIPTH VLPPCANLQA QKLKSNVSGN THLCISNGNY
   421  EKEGLGASSH ITTKSMAAPP SCGLSPLLVL VVTALSTLLS LTETS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GFRA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.4
Highest tissue expression
23 nTPM

Expression across tissuesHPA

Tissue

  • breast: 23 nTPM
  • fallopian tube: 20 nTPM
  • epididymis: 20 nTPM
  • colon: 17 nTPM
  • liver: 17 nTPM
  • basal ganglia: 14 nTPM

Single-cell type

  • pituicytes/fscs: 419 nCPM
  • oligodendrocyte progenitor cells: 161 nCPM
  • fibro-adipogenic progenitors: 123 nCPM
  • schwann cells: 108 nCPM
  • pituitary stem cells: 102 nCPM
  • retinal amacrine cells: 88 nCPM

Immune cell

  • basophil: 0.6 nTPM
  • myeloid DC: 0.4 nTPM
  • total PBMC: 0.4 nTPM
  • classical monocyte: 0.3 nTPM
  • non-classical monocyte: 0.3 nTPM
  • intermediate monocyte: 0.2 nTPM

Brain region

  • midbrain: 81 nTPM
  • hypothalamus: 49 nTPM
  • basal ganglia: 42 nTPM
  • hippocampal formation: 29 nTPM
  • cerebral cortex: 27 nTPM
  • pons: 26 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GFRA1.

Disease | AllUniProt

Conditions GFRA1 is implicated in, by any mechanism.

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 82 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Renal hypodysplasia/aplasia 4
  • GFRA1-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.52
gnomAD pLI
0.12
gnomAD missense Z
1.39
DepMap mean gene effect
0.01
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GFRA1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GFRA1 as an antibody target. Whether an autoantibody or antibody against GFRA1 could matter depends on whether native GFRA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GFRA1 is annotated at the cell surface, where native GFRA1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label GFRA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GFRA1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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