GNRH1
Progonadoliberin-1
Also known as: GNRH, GON1_HUMAN, GRH, LHRH
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P01148
- Gene
- GNRH1
- Ensembl
- ENSG00000147437
- Chromosome
- 8
- Canonical length
- 92 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted secreted proteins
- Secretome location
- Secreted to blood
OverviewNCBI Gene
This gene encodes a preproprotein that is proteolytically processed to generate a peptide that is a member of the gonadotropin-releasing hormone (GnRH) family of peptides. Alternative splicing results in multiple transcript variants, at least one of which is secreted and then cleaved to generate gonadoliberin-1 and GnRH-associated peptide 1. Gonadoliberin-1 stimulates the release of luteinizing and follicle stimulating hormones, which are important for reproduction. Mutations in this gene are associated with hypogonadotropic hypogonadism. [provided by RefSeq, Nov 2015]
Canonical amino-acid sequenceUniProt
92 residues, UniProt reviewed canonical sequence.
>P01148|GNRH1
1 MKPIQKLLAG LILLTWCVEG CSSQHWSYGL RPGGKRDAEN LIDSFQEIVK EVGQLAETQR
61 FECTTHQPRS PLRDLKGALE SLIEEETGQK KILocalizationUniProt · AlphaFold · HPA
Whether an antibody against GNRH1 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
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.57
- Highest tissue expression
- 21 nTPM
Expression across tissuesHPA
Tissue
- basal ganglia: 21 nTPM
- cerebellum: 13 nTPM
- blood vessel: 12 nTPM
- ovary: 8.5 nTPM
- retina: 8.5 nTPM
- vagina: 8.2 nTPM
Single-cell type
- peritubular myoid cells: 15 nCPM
- leydig cells: 14 nCPM
- fibro-adipogenic progenitors: 12 nCPM
- other brain neurons: 11 nCPM
- thymocytes: 11 nCPM
- innate lymphoid cells: 10 nCPM
Immune cell
- gdT-cell: 0.3 nTPM
- T-reg: 0.3 nTPM
- neutrophil: 0.2 nTPM
- MAIT T-cell: 0.1 nTPM
- memory CD8 T-cell: 0.1 nTPM
- naive B-cell: 0.1 nTPM
Brain region
- hypothalamus: 27 nTPM
- basal ganglia: 12 nTPM
- white matter: 10 nTPM
- cerebellum: 9.9 nTPM
- cerebral cortex: 9.9 nTPM
- pons: 7.9 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GNRH1.
Disease | AllUniProt
Conditions GNRH1 is implicated in, by any mechanism.
- Hypogonadotropic hypogonadism 12 with or without anosmia (HH12) MIM:614841
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 51 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hypogonadotropic hypogonadism 12 with or without anosmia
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)
- 1.05
- gnomAD pLI
- 0.15
- gnomAD missense Z
- 0.16
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell-cell signaling
- estrous cycle
- female pregnancy
- male sex determination
- negative regulation of apoptotic process
- negative regulation of neuron migration
- regulation of gene expression
- regulation of ovarian follicle development
- regulation of signaling
- response to ethanol
- response to lipopolysaccharide
- response to potassium ion
- response to prolactin
- response to prostaglandin E
- response to steroid hormone
- response to testosterone
- signal transduction
- negative regulation of immature T cell proliferation
Molecular functions
- gonadotropin hormone-releasing hormone activity
- gonadotropin-releasing hormone receptor binding
- hormone activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Gonadotropin-releasing hormone
- Gonadoliberin
- Gonadotropin-releasing hormone
- Gonadoliberin I precursor
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GNRH1 as an antibody target. Whether an autoantibody or antibody against GNRH1 could matter depends on whether native GNRH1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GNRH1 is annotated as secreted, so native GNRH1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label GNRH1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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