Human Gene GNRH1 (ENST00000276414.4) from GENCODE V44
  Description: Homo sapiens gonadotropin releasing hormone 1 (GNRH1), transcript variant 1, mRNA. (from RefSeq NM_000825)
RefSeq Summary (NM_000825): 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 is secreted and then cleaved to generate gonadoliberin-1 and GnRH-associated peptide 1. Gonadoliberin-1 stimulates the release of luteinizing and follicle stimulating hormones, which are important for reproduction. Mutations in this gene are associated with hypogonadotropic hypogonadism. [provided by RefSeq, Nov 2015].
Gencode Transcript: ENST00000276414.4
Gencode Gene: ENSG00000147437.10
Transcript (Including UTRs)
   Position: hg38 chr8:25,419,262-25,424,654 Size: 5,393 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg38 chr8:25,419,419-25,423,330 Size: 3,912 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:25,419,262-25,424,654)mRNA (may differ from genome)Protein (92 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GON1_HUMAN
DESCRIPTION: RecName: Full=Progonadoliberin-1; AltName: Full=Progonadoliberin I; Contains: RecName: Full=Gonadoliberin-1; AltName: Full=Gonadoliberin I; AltName: Full=Gonadorelin; AltName: Full=Gonadotropin-releasing hormone I; Short=GnRH-I; AltName: Full=Luliberin I; AltName: Full=Luteinizing hormone-releasing hormone I; Short=LH-RH I; Contains: RecName: Full=GnRH-associated peptide 1; AltName: Full=GnRH-associated peptide I; Flags: Precursor;
FUNCTION: Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones.
SUBCELLULAR LOCATION: Secreted.
PHARMACEUTICAL: Available under the names Factrel (Ayerst Labs), Lutrepulse or Lutrelef (Ferring Pharmaceuticals) and Relisorm (Serono). Used in evaluating hypothalamic-pituitary gonadotropic function.
SIMILARITY: Belongs to the GnRH family.
WEB RESOURCE: Name=Wikipedia; Note=Gonadotropin-releasing hormone entry; URL="http://en.wikipedia.org/wiki/Gonadotropin-releasing_hormone";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GNRH1
Diseases sorted by gene-association score: hypogonadotropic hypogonadism 12 with or without anosmia* (980), gnrh1-related isolated gonadotropin-releasing hormone deficiency* (100), normosmic congenital hypogonadotropic hypogonadism* (82), hypogonadotropic hypogonadism (70), hypogonadism (68), ovarian disease (45), varicocele (29), ovarian hyperstimulation syndrome (26), pituitary apoplexy (21), endometriosis (20), anovulation (19), catamenial pneumothorax (18), polycystic ovary syndrome (18), orbital leiomyoma (18), premenstrual tension (16), myoma (15), leiomyoma (14), gonadal disease (14), reproductive system disease (13), female reproductive system disease (13), isolated gonadotropin-releasing hormone deficiency (13), precocious puberty (12), hypothalamic disease (12), hyperprolactinemia (12), cryptorchidism (11), central precocious puberty (11), empty sella syndrome (10), kallmann syndrome (10), hyperandrogenism (9), hypogonadotropic hypogonadism 23 with or without anosmia (9), hypogonadotropism (9), amenorrhea (8), nodular prostate (8), hypopituitarism (8), uterine fibroid (8), leiomyomatosis (7), pituitary infarct (7), atrophy of testis (7), endometriosis of uterus (7), endogenous depression (7), penis agenesis (7), pituitary gland disease (7), acth-independent macronodular adrenal hyperplasia (7), chiasmal syndrome (6), taylor's syndrome (6), diabetes insipidus, neurohypophyseal (6), premature ovarian failure 1 (6), robinow syndrome (6), craniopharyngioma (6), priapism (6), aromatase deficiency (6), chromophobe adenoma (6), stuttering (6), freemartinism (5), pelvic varices (5), infertility (5), sex differentiation disease (5), pneumothorax (5), marshall-smith syndrome (5), prostate cancer (4), acromegaly (4), pituitary-dependent cushing's disease (4), adrenal rest tumor (4), endometrial cancer (3), ovarian cancer, somatic (2), breast cancer (2), nervous system cancer (1), male reproductive organ cancer (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.13 RPKM in Nerve - Tibial
Total median expression: 171.59 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -348.701324-0.263 Picture PostScript Text
3' UTR -21.50157-0.137 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002012 - GnRH
IPR019792 - Gonadoliberin_I
IPR004079 - Gonadoliberin_I_precursor

Pfam Domains:
PF00446 - Gonadotropin-releasing hormone

ModBase Predicted Comparative 3D Structure on P01148
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005179 hormone activity
GO:0005183 gonadotropin hormone-releasing hormone activity

Biological Process:
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007267 cell-cell signaling
GO:0007275 multicellular organism development
GO:0007565 female pregnancy
GO:0007568 aging
GO:0008285 negative regulation of cell proliferation
GO:0010468 regulation of gene expression
GO:0010469 regulation of receptor activity
GO:0014070 response to organic cyclic compound
GO:0030238 male sex determination
GO:0031960 response to corticosteroid
GO:0032496 response to lipopolysaccharide
GO:0033087 negative regulation of immature T cell proliferation
GO:0033574 response to testosterone
GO:0034695 response to prostaglandin E
GO:0035864 response to potassium ion
GO:0042698 ovulation cycle
GO:0043066 negative regulation of apoptotic process
GO:0043434 response to peptide hormone
GO:0044849 estrous cycle
GO:0045471 response to ethanol
GO:0048545 response to steroid hormone
GO:1990637 response to prolactin
GO:2000354 regulation of ovarian follicle development
GO:2001223 negative regulation of neuron migration

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005739 mitochondrion
GO:0005798 Golgi-associated vesicle
GO:0030425 dendrite
GO:0043005 neuron projection
GO:0043204 perikaryon
GO:0043679 axon terminus
GO:0098556 cytoplasmic side of rough endoplasmic reticulum membrane
GO:1990008 neurosecretory vesicle


-  Descriptions from all associated GenBank mRNAs
  M12578 - Human gonadotropin-releasing hormone and prolactin release-inhibiting factor mRNA, complete cds.
E00844 - cDNA encoding human pre pro-LHRH (Luteining Hormone Releasing Hormone).
X01059 - Human placenta mRNA for luteinizing hormone releasing hormone precursor (LHRH).
BC067290 - Homo sapiens gonadotropin-releasing hormone 1 (luteinizing-releasing hormone), mRNA (cDNA clone IMAGE:30395430), with apparent retained intron.
BC126437 - Homo sapiens gonadotropin-releasing hormone 1 (luteinizing-releasing hormone), mRNA (cDNA clone MGC:161715 IMAGE:8992153), complete cds.
BC126463 - Homo sapiens gonadotropin-releasing hormone 1 (luteinizing-releasing hormone), mRNA (cDNA clone MGC:161741 IMAGE:8992179), complete cds.
HQ258027 - Synthetic construct Homo sapiens clone IMAGE:100072336 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) (GNRH1), transcript variant 2 (GNRH1) gene, encodes complete protein.
KJ891268 - Synthetic construct Homo sapiens clone ccsbBroadEn_00662 GNRH1 gene, encodes complete protein.
JD063251 - Sequence 44275 from Patent EP1572962.
JD326513 - Sequence 307537 from Patent EP1572962.
JD308525 - Sequence 289549 from Patent EP1572962.
JD410606 - Sequence 391630 from Patent EP1572962.
JD379078 - Sequence 360102 from Patent EP1572962.
JD532760 - Sequence 513784 from Patent EP1572962.
JD455895 - Sequence 436919 from Patent EP1572962.
JD256141 - Sequence 237165 from Patent EP1572962.
JD300443 - Sequence 281467 from Patent EP1572962.
JD091829 - Sequence 72853 from Patent EP1572962.
JD077017 - Sequence 58041 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04080 - Neuroactive ligand-receptor interaction
hsa04912 - GnRH signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein P01148 (Reactome details) participates in the following event(s):

R-HSA-391372 Gonadotropin-releasing hormone receptors can bind GNRH I and II
R-HSA-749452 The Ligand:GPCR:Gq complex dissociates
R-HSA-749448 Liganded Gq-activating GPCRs bind inactive heterotrimeric Gq
R-HSA-379048 Liganded Gq/11-activating GPCRs act as GEFs for Gq/11
R-HSA-375281 Hormone ligand-binding receptors
R-HSA-416476 G alpha (q) signalling events
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-388396 GPCR downstream signalling
R-HSA-500792 GPCR ligand binding
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A0AVP0, ENST00000276414.1, ENST00000276414.2, ENST00000276414.3, GNRH, GON1_HUMAN, GRH, LHRH, NM_000825, P01148, uc064lhq.1
UCSC ID: ENST00000276414.4
RefSeq Accession: NM_000825
Protein: P01148 (aka GON1_HUMAN)
CCDS: CCDS43725.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene GNRH1:
kms (Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.