P01148 · GON1_HUMAN
- ProteinProgonadoliberin-1
- GeneGNRH1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones.
Miscellaneous
The 3D-structure was determined for the synthetic analog Triptorelin.
Features
Showing features for site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Site | 26 | Appears to be essential for biological activity | ||||
Sequence: W | ||||||
Site | 26-27 | Cleavage; by ACE | ||||
Sequence: WS | ||||||
Site | 28-29 | Cleavage; by ACE | ||||
Sequence: YG | ||||||
Site | 30-31 | Cleavage; by ACE | ||||
Sequence: LR | ||||||
Site | 33-34 | Cleavage; by ACE | ||||
Sequence: GG |
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | extracellular region | |
Cellular Component | extracellular space | |
Molecular Function | gonadotropin hormone-releasing hormone activity | |
Molecular Function | gonadotropin-releasing hormone receptor binding | |
Molecular Function | hormone activity | |
Biological Process | cell-cell signaling | |
Biological Process | negative regulation of neuron migration | |
Biological Process | regulation of gene expression | |
Biological Process | regulation of ovarian follicle development | |
Biological Process | response to ethanol | |
Biological Process | response to steroid hormone | |
Biological Process | signal transduction |
Keywords
- Molecular function
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameProgonadoliberin-1
- Alternative names
- Cleaved into 2 chains
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP01148
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Hypogonadotropic hypogonadism 12 with or without anosmia (HH12)
- Note
- DescriptionA disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
- See alsoMIM:614841
Natural variants in HH12
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_069966 | 31 | R>C | in HH12; uncertain significance; the patient also carries mutations in PROKR2 and FGFR1 |
Pharmaceutical
Available under the names Factrel (Ayerst Labs), Lutrepulse or Lutrelef (Ferring Pharmaceuticals) and Relisorm (Serono). Used in evaluating hypothalamic-pituitary gonadotropic function.
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_013943 | 16 | in dbSNP:rs6185 | |||
Sequence: W → S | ||||||
Natural variant | VAR_069966 | 31 | in HH12; uncertain significance; the patient also carries mutations in PROKR2 and FGFR1 | |||
Sequence: R → C |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 126 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for signal, modified residue, peptide, chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-23 | |||||
Sequence: MKPIQKLLAGLILLTWCVEGCSS | ||||||
Modified residue | 24 | Pyrrolidone carboxylic acid | ||||
Sequence: Q | ||||||
Peptide | PRO_0000012396 | 24-33 | Gonadoliberin-1 | |||
Sequence: QHWSYGLRPG | ||||||
Chain | PRO_0000012395 | 24-92 | Progonadoliberin-1 | |||
Sequence: QHWSYGLRPGGKRDAENLIDSFQEIVKEVGQLAETQRFECTTHQPRSPLRDLKGALESLIEEETGQKKI | ||||||
Modified residue | 33 | Glycine amide | ||||
Sequence: G | ||||||
Peptide | PRO_0000012397 | 37-92 | GnRH-associated peptide 1 | |||
Sequence: DAENLIDSFQEIVKEVGQLAETQRFECTTHQPRSPLRDLKGALESLIEEETGQKKI |
Post-translational modification
Gonadoliberin-1
The precursor is cleaved by ACE, which removes the Gly-Lys-Arg peptide at the C-terminus, leading to mature hormone (PubMed:10336644, PubMed:7683654).
The mature form of Gonadoliberin-1 is also cleaved and degraded by ACE (PubMed:2983326, PubMed:7683654).
The mature form of Gonadoliberin-1 is also cleaved and degraded by ACE (PubMed:2983326, PubMed:7683654).
Keywords
- PTM
Proteomic databases
Structure
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
- Length92
- Mass (Da)10,380
- Last updated1988-04-01 v1
- Checksum30A72221B076FA79
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
X01059 EMBL· GenBank· DDBJ | CAA25526.1 EMBL· GenBank· DDBJ | mRNA | ||
M12578 EMBL· GenBank· DDBJ | AAA35916.1 EMBL· GenBank· DDBJ | mRNA | ||
X15215 EMBL· GenBank· DDBJ | CAA33285.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC126437 EMBL· GenBank· DDBJ | AAI26438.1 EMBL· GenBank· DDBJ | mRNA | ||
BC126463 EMBL· GenBank· DDBJ | AAI26464.1 EMBL· GenBank· DDBJ | mRNA |