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Details on Person UniProt:P01148 GNRH1
| Class:Id | ReferenceGeneProduct:55788 |
|---|---|
| _chainChangeLog | signal peptide:1-23 added on Fri February 6 2015;chain:24-92 added on Fri February 6 2015;peptide:24-33 added on Fri February 6 2015;peptide:37-92 added on Fri February 6 2015 |
| _displayName | UniProt:P01148 GNRH1 |
| _timestamp | 2024-11-03 19:56:28 |
| chain | signal peptide:1-23 chain:24-92 peptide:24-33 peptide:37-92 |
| checksum | 30A72221B076FA79 |
| comment | FUNCTION Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones.SUBCELLULAR LOCATION 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).DISEASE The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in GNRH1 as well as in other HH-associated genes including PROKR2 and FGFR1 (PubMed:23643382).PHARMACEUTICAL Available under the names Factrel (Ayerst Labs), Lutrepulse or Lutrelef (Ferring Pharmaceuticals) and Relisorm (Serono). Used in evaluating hypothalamic-pituitary gonadotropic function.MISCELLANEOUS The 3D-structure was determined for the synthetic analog Triptorelin.SIMILARITY Belongs to the GnRH family.ONLINE INFORMATION Gonadotropin-releasing hormone entry |
| description | recommendedName: Progonadoliberin-1 alternativeName: Progonadoliberin I component recommendedName: Gonadoliberin-1 alternativeName: Gonadoliberin I alternativeName: Gonadorelin alternativeName: Gonadotropin-releasing hormone I shortName: GnRH-I alternativeName: Luliberin I alternativeName: Luteinizing hormone-releasing hormone I shortName: LH-RH I /component component recommendedName: GnRH-associated peptide 1 alternativeName: GnRH-associated peptide I /component |
| geneName | GNRH1 GNRH GRH LHRH |
| identifier | P01148 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Amidation Cleavage on pair of basic residues Direct protein sequencing Disease variant Hormone Hypogonadotropic hypogonadism Kallmann syndrome Pharmaceutical Proteomics identification Pyrrolidone carboxylic acid Reference proteome Secreted Signal |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | GNRH1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9003552] ENSEMBL:ENSG00000147437 GNRH1 [Homo sapiens] |
| secondaryIdentifier | GON1_HUMAN A0AVP0 |
| sequenceLength | 92 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:873934] GNRH1(24-33) [extracellular region] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:P01148 GNRH1 (55788)
