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Gene id 2796
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary

Gene Symbol GNRH1   Gene   UCSC   Ensembl
Aliases GNRH, GRH, LHRH, LNRH
Gene name gonadotropin releasing hormone 1
Alternate names progonadoliberin-1, GnRH-associated peptide 1, gonadotropin-releasing hormone 1 (luteinizing-releasing hormone), leuteinizing-releasing hormone, luliberin I, prolactin release-inhibiting factor,
Gene location 8p21.2 (25425039: 25419257)     Exons: 4     NC_000008.11
Gene summary(Entrez) 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
OMIM 152760

Protein Summary

Protein general information P01148  

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

Length: 92  Mass: 10,380

Sequence MKPIQKLLAGLILLTWCVEGCSSQHWSYGLRPGGKRDAENLIDSFQEIVKEVGQLAETQRFECTTHQPRSPLRDL
KGALESLIEEETGQKKI
Structural information
Interpro:  IPR002012  IPR019792  IPR004079  
Prosite:   PS00473

PDB:  
4D5M
PDBsum:   4D5M
STRING:   ENSP00000276414
Other Databases GeneCards:  GNRH1  Malacards:  GNRH1

Gene ontology

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GO accessionTerm nameEvidence codeGo category
GO:0005179 hormone activity
TAS molecular function
GO:0005183 gonadotropin hormone-rele
asing hormone activity
IEA molecular function
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005615 extracellular space
IEA cellular component
GO:0005739 mitochondrion
IEA cellular component
GO:0005798 Golgi-associated vesicle
IEA cellular component
GO:0007165 signal transduction
TAS biological process
GO:0007267 cell-cell signaling
TAS biological process
GO:0007275 multicellular organism de
velopment
TAS biological process
GO:0007565 female pregnancy
IEA biological process
GO:0007568 aging
IEA biological process
GO:0008285 negative regulation of ce
ll proliferation
TAS biological process
GO:0010468 regulation of gene expres
sion
IEA biological process
GO:0030238 male sex determination
IEA biological process
GO:0030425 dendrite
IEA cellular component
GO:0031960 response to corticosteroi
d
IEA biological process
GO:0032496 response to lipopolysacch
aride
IEA biological process
GO:0033087 negative regulation of im
mature T cell proliferati
on
IEA biological process
GO:0033574 response to testosterone
IEA biological process
GO:0034695 response to prostaglandin
E
IEA biological process
GO:0035864 response to potassium ion
IEA biological process
GO:0043066 negative regulation of ap
optotic process
IEA biological process
GO:0043204 perikaryon
IEA cellular component
GO:0043679 axon terminus
IEA cellular component
GO:0044849 estrous cycle
IEA biological process
GO:0045471 response to ethanol
IEA biological process
GO:0098556 cytoplasmic side of rough
endoplasmic reticulum me
mbrane
IEA cellular component
GO:1990008 neurosecretory vesicle
IEA cellular component
GO:1990637 response to prolactin
IEA biological process
GO:2000354 regulation of ovarian fol
licle development
IEA biological process
GO:2001223 negative regulation of ne
uron migration
IEA biological process
GO:0005179 hormone activity
IEA molecular function
GO:0005179 hormone activity
IEA molecular function
GO:0005179 hormone activity
TAS molecular function
GO:0005183 gonadotropin hormone-rele
asing hormone activity
IEA molecular function
GO:0005183 gonadotropin hormone-rele
asing hormone activity
IEA molecular function
GO:0005183 gonadotropin hormone-rele
asing hormone activity
TAS molecular function
GO:0005576 extracellular region
IEA cellular component
GO:0005576 extracellular region
IEA cellular component
GO:0005576 extracellular region
IEA cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005615 extracellular space
IEA cellular component
GO:0005739 mitochondrion
IEA cellular component
GO:0005798 Golgi-associated vesicle
IEA cellular component
GO:0007165 signal transduction
TAS biological process
GO:0007267 cell-cell signaling
TAS biological process
GO:0007275 multicellular organism de
velopment
IEA biological process
GO:0007275 multicellular organism de
velopment
IEA biological process
GO:0007275 multicellular organism de
velopment
TAS biological process
GO:0007565 female pregnancy
IEA biological process
GO:0007568 aging
IEA biological process
GO:0008285 negative regulation of ce
ll proliferation
TAS biological process
GO:0010468 regulation of gene expres
sion
IEA biological process
GO:0014070 response to organic cycli
c compound
IEA biological process
GO:0030238 male sex determination
IEA biological process
GO:0030425 dendrite
IEA cellular component
GO:0031960 response to corticosteroi
d
IEA biological process
GO:0032496 response to lipopolysacch
aride
IEA biological process
GO:0033087 negative regulation of im
mature T cell proliferati
on
IEA biological process
GO:0033574 response to testosterone
IEA biological process
GO:0034695 response to prostaglandin
E
IEA biological process
GO:0035864 response to potassium ion
IEA biological process
GO:0042698 ovulation cycle
IEA biological process
GO:0043005 neuron projection
IEA cellular component
GO:0043066 negative regulation of ap
optotic process
IEA biological process
GO:0043204 perikaryon
IEA cellular component
GO:0043434 response to peptide hormo
ne
IEA biological process
GO:0043679 axon terminus
IEA cellular component
GO:0044849 estrous cycle
IEA biological process
GO:0045471 response to ethanol
IEA biological process
GO:0048545 response to steroid hormo
ne
IEA biological process
GO:0098556 cytoplasmic side of rough
endoplasmic reticulum me
mbrane
IEA cellular component
GO:1990008 neurosecretory vesicle
IEA cellular component
GO:1990637 response to prolactin
IEA biological process
GO:2000354 regulation of ovarian fol
licle development
IEA biological process
GO:2001223 negative regulation of ne
uron migration
IEA biological process
GO:0005179 hormone activity
TAS molecular function
GO:0005183 gonadotropin hormone-rele
asing hormone activity
TAS molecular function
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0007165 signal transduction
TAS biological process
GO:0007267 cell-cell signaling
TAS biological process
GO:0007275 multicellular organism de
velopment
TAS biological process
GO:0008285 negative regulation of ce
ll proliferation
TAS biological process

KEGG pathways

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Pathway idPathway name
hsa04080Neuroactive ligand-receptor interaction
hsa04929GnRH secretion
hsa04912GnRH signaling pathway
Associated diseases References
Cancer GAD: 19640273
Cancer (epithelial ovarian) GAD: 19064572
Cancer (prostate) GAD: 17220347
Cancer (breast) GAD: 19640273
Hyperandrogenism GAD: 19403562
Hyperparathyroidism GAD: 20424473
Periodontitis GAD: 15490304
Obesity GAD: 20734064
Bone diseases GAD: 12633791
Psychological disorders GAD: 19086053
Several psychiatric disorders GAD: 19086053
Endometriosis GAD: 17595314
Hypogonadotropic hypogonadism GAD: 19567835
Hypogonadotropic hypogonadism INFBASE: 17235395
Female infertility INFBASE: 4601472
Polycystic ovary syndrome (PCOS) INFBASE: 9467578
Tubuli seminiferi and hyperplasia of the Leydig cells INFBASE: 7782053
Anovulation INFBASE: 4601472
Azoospermia MIK: 2509619
Human spermatogenic defect MIK: 3886437
Hypogonadotropic hypogonadism MIK: 1730329
Sertoli cell only syndrome (SCOS) MIK: 18082732
Male factor infertility MIK: 18082732
Varicocele MIK: 3096787
Male factor infertility MIK: 2509619
Spermatogenesis defects MIK: 18082732
Oligozoospermia MIK: 2509619
Oligozoospermia MIK: 3886437
Hypogonadotropic hypogonadism OMIM: 152760
Congenital hypogonadotropic hypogonadism (CHH) MIK: 23936060
Azoospermia MIK: 7782053
Azoospermia MIK: 7782053
Tubuli seminiferi and hyperplasia of the Leydig cells MIK: 7782053
Congenital hypogonadotropic hypogonadism MIK: 23936060
Hypogonadotropic Hypogonadism MIK: 26595427
Idiopathic hypogonadotropic hypogonadism (IHH) MIK: 17235395
Oligozoospermia MIK: 2509619
Male infertility MIK: 2509619
Sertoli- cell only syndrome MIK: 18082732
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
23936060 Congenital
hypogonad
otropic hy
pogonadism
R31C GNRH1
9 nCHH subjects
Male infertility, Female infertility
Show abstract
18082732 Male infer
tility, Sp
ermatogeni
c failure,
Sertoli-
cell only
syndrome

34 azoospermic
men
Male infertility GnRH-I
GnRH-II
GnRH-R
CYP11A1
HSD3B2
Show abstract
1730329 idiopathic
hypogonad
otropic hy
pogonadism
 (IHH)


Male infertility FSH beta
LH beta
GnRH
Show abstract
17235395 Idiopathic
hypogonad
otropic hy
pogonadism
(IHH)
FGFR1 mutation
2 families one
with Kallmann s
yndrome (IHH an
d anosmia) and
another with no
rmosmic IHH,
Male infertility FGFR1
LHRH factor (NELF)
GNRHR
Show abstract
2509619 Idiopathic
oligozoos
permia, az
oospermia

35 (21 infertil
e patients with
idiopathic azo
ospermia or oli
goasthenozoospe
rmia, 14 fertil
e age-matched c
ontrols)
Male infertility LHRH
Show abstract
7782053 Azoospermi
a, tubuli
seminiferi
and hyper
plasia of
the Leydig
cells

1 XX male with
constitutional
delay of growt
h and developme
nt and genetic
short stature
Male infertility LHRH
Show abstract
17327269 Teratozoos
permia

13 (5 controls,
8 cases)
Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
26595427 Hypogonado
tropic Hyp
ogonadism
p.G29GfsX12,c.87delAc,G92A leading to p.R31H.
3(1 case)
Male infertility
Show abstract
3886437 Human sper
matogenesi
s, oligozo
ospermia

103 samples wer
e divided into
four groups. In
the low-concen
tration groups
(oligozoospermi
c patients), th
e hormonal conc
entrations diff
ered significan
tly (P less tha
n 0.05) between
those specimen
s demonstrating
good and poor
motility
Male infertility LH-RH
Show abstract