GNRH1
entrez
2796
canonical
uniprot
P01148
canonical
ensembl
ENSG00000147437
resolver
ensp
ENSP00000276414
resolver
ensp
ENSP00000391280
resolver
ensp
ENSP00000636689
resolver
enst
ENST00000276414
resolver
enst
ENST00000421054
resolver
enst
ENST00000966630
resolver
genesymbol
GNRH1
resolver
genesymbol_syn
GNRH
resolver
genesymbol_syn
GRH
resolver
genesymbol_syn
LHRH
resolver
hgnc
HGNC:4419
resolver
uniprot
A0AVP0
resolver
uniprot_entry
GON1_HUMAN
resolver
uniprot_sec
A0AVP0
resolver
amino_acid_sequence
MKPIQKLLAGLILLTWCVEGCSSQHWSYGLRPGGKRDAENLIDSFQEIVKEVGQLAETQRFECTTHQPRSPLRDLKGALESLIEEETGQKKI
uniprot
proteins
disease_involvement
DISEASE: Hypogonadotropic hypogonadism 12 with or without anosmia (HH12) [MIM:614841]: A 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). {ECO:0000269|PubMed:19535795, ECO:0000269|PubMed:23643382}. Note=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). {ECO:0000269|PubMed:23643382}.
uniprot
proteins
function
FUNCTION: Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones.
uniprot
proteins
mass_dalton
10380
uniprot
proteins
post_translational_modification
PTM: [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). {ECO:0000269|PubMed:10336644, ECO:0000269|PubMed:2983326, ECO:0000269|PubMed:7683654}.
uniprot
proteins
protein_family
GnRH family
uniprot
proteins
pubmed
10336644
uniprot
proteins
pubmed
10391209
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19535795
uniprot
proteins
pubmed
23643382
uniprot
proteins
pubmed
26190377
uniprot
proteins
pubmed
2671939
uniprot
proteins
pubmed
2867548
uniprot
proteins
pubmed
2983326
uniprot
proteins
pubmed
6090951
uniprot
proteins
pubmed
6760865
uniprot
proteins
pubmed
7683654
uniprot
proteins
sequence_length
92
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted.
uniprot
proteins