GNRH1 (gonadotropin releasing hormone 1)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
2796 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Gonadotropin releasing hormone 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
GNRH1 |
SynonymsGene synonyms aliases
|
GNRH, GRH, LHRH, LNRH |
ChromosomeChromosome number
|
8 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
8p21.2 |
SummarySummary of gene provided in NCBI Entrez 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 |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs587777758 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
P01148 |
Protein name |
Progonadoliberin-1 (Progonadoliberin I) [Cleaved into: Gonadoliberin-1 (Gonadoliberin I) (Gonadorelin) (Gonadotropin-releasing hormone I) (GnRH-I) (Luliberin I) (Luteinizing hormone-releasing hormone I) (LH-RH I); GnRH-associated peptide 1 (GnRH-associate |
Protein function |
Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones. |
PDB |
4D5M
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00446 |
GnRH |
24 → 33 |
Gonadotropin-releasing hormone |
Family |
|
Sequence |
MKPIQKLLAGLILLTWCVEGCSSQHWSYGLRPGGKRDAENLIDSFQEIVKEVGQLAETQR FECTTHQPRSPLRDLKGALESLIEEETGQKKI
|
|
Sequence length |
92 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Cryptorchidism |
Cryptorchidism |
rs121912555, rs104894697, rs104894698, rs398122886 |
|
Hyperprolactinemia |
Hyperprolactinemia |
rs398122522, rs376188691, rs754974807 |
2204052 |
Hypertension |
Hypertensive disease |
rs13306026, rs13333226 |
6350720 |
Hypogonadotropic hypogonadism |
Hypogonadotropic hypogonadism, Idiopathic hypogonadotropic hypogonadism |
rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139 |
20063086, 19535795 |
Hypogonadotropic hypogonadism with or without anosmia |
Eunuchoidism, familial hypogonadotropic |
rs387906271, rs121918340, rs606231136, rs587777834, rs74315419, rs554675432, rs28939719, rs104894701, rs104894702, rs104894703, rs137852659, rs137852661, rs137852662, rs137852663, rs137852512, rs137852513, rs137852514, rs2146817110, rs137852515, rs2146819139, rs2146919315, rs137852516, rs387906427, rs121918124, rs121918125, rs587777758, rs104893836, rs104893837, rs28933074, rs104893838, rs104893839, rs104893840, rs104893841, rs104893842, rs104893843, rs104893844, rs797044452, rs74452732, rs104893847, rs5030646, rs5030776, rs121909666, rs121909627, rs1586111679, rs1563433902, rs121909628, rs121909629, rs1586287678, rs121909630, rs121909635, rs267606805, rs121909636, rs121909638, rs121909639, rs587776835, rs121909640, rs121909642, rs121909643, rs121909645, rs281865427, rs587777835, rs761325768, rs2104908342, rs886037634, rs397515446, rs398123024, rs398123025, rs398124651, rs398124652, rs398124653, rs398124654, rs369641068, rs145221454, rs587776980, rs587776981, rs886037637, rs398122393, rs144292455, rs397515483, rs397518425, rs398124321, rs515726220, rs515726223, rs515726224, rs515726225, rs10835638, rs606231406, rs369176613, rs606231409, rs587777739, rs587777740, rs587777864, rs587783457, rs727505375, rs727505367, rs727505377, rs727505376, rs727505370, rs727505371, rs727505373, rs727505372, rs727505374, rs764659822, rs5030777, rs794727423, rs876661334, rs876661330, rs876661329, rs886039395, rs886039881, rs886037916, rs886040962, rs1057519418, rs374623109, rs1057520209, rs1057520210, rs1060499663, rs773138384, rs1131692039, rs932845258, rs1554570706, rs1554834303, rs1555904591, rs747010865, rs1554603970, rs1555893221, rs1554564353, rs1554594114, rs1602050730, rs1584891562, rs1601946139, rs1586083500, rs1586375906, rs1601965037, rs1601988004, rs1586462917, rs760022956, rs1727077385, rs1726901153, rs1726871489 |
23643382, 22724017, 19535795 |
Non-obstructive azoospermia |
Non-obstructive azoospermia |
rs587777872, rs879253743, rs1600840291, rs1600877766, rs753462162, rs1588618614, rs1602684496, rs377712900 |
|
Osteoporosis |
Osteoporosis |
rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 |
|
Precocious puberty |
Precocious Puberty |
rs879255238, rs879255239, rs879255240, rs1264639964, rs1566764505 |
18345393 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Adrenal cancer |
Adrenal Cancer |
|
19261682 |
Adrenal neoplasia |
Adrenal Gland Neoplasms |
|
19261682 |
Anxiety disorder |
Anxiety |
|
|
Central precocious puberty |
Central Precocious Puberty |
|
18345393 |
Congenital camptodactyly |
Congenital Camptodactyly |
|
|
Breast hypoplasia |
Congenital hypoplasia of breast |
|
|
Hypoplasia of the ovary |
Congenital hypoplasia of ovary |
|
|
Congenital sensorineural hearing loss |
Congenital sensorineural hearing loss |
|
|
Erectile dysfunction |
Erectile dysfunction |
|
|
Female hypogonadism syndrome |
Female hypogonadism syndrome |
|
|
Gynecomastia |
Gynecomastia |
|
|
Hypogonadism |
Hypogonadism, Primary hypogonadism, Hypogonadism, Isolated Hypogonadotropic |
|
20063086 |
Mental depression |
Depressive disorder |
rs587778876, rs587778877 |
|
Normosmic congenital hypogonadotropic hypogonadism |
Normosmic congenital hypogonadotropic hypogonadism |
|
|
Osteopenia |
Osteopenia |
|
|
Penis agenesis |
Penis agenesis |
|
|
Physiologic amenorrhea |
Primary physiologic amenorrhea |
|
|
Respiratory distress syndrome |
Respiratory Distress Syndrome, Adult |
|
25070658 |
Secondary physiologic amenorrhea |
Secondary physiologic amenorrhea |
|
|
Testicular hypogonadism |
Testicular hypogonadism |
|
|
Testotoxicosis |
Testotoxicosis |
|
18345393 |
|
|
|