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FLASH GENE

Symbol

GNRHR

contributors: mct/npt - updated : 10/12/2008

HGNC name	gonadotropin-releasing hormone receptor
HGNC id	4421

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GNRHR idiopathic hypogonadotropic hypogonadism HH7 hypogonadotropic hypogonadism 7 with or without anosmia
Location	4q21.2      Physical location : 68.603.105 - 68.621.804
Synonym name	luliberin receptor
	luteinizing hormone releasing horomone receptor
	type I GnRH receptor
Synonym symbol(s)	GRHR, LRHR, LHRHR, GNRHR1

DNA

TYPE	functioning gene
STRUCTURE	18.71 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 3 - 5843 37 328 - Knollman (2008) variant 2 3 splicing 5715 27 249 - Grosse, Knollman (2008) may act a an inhibitor of GnRH-R signaling using an alternate splice site in the coding region (a cryptic splicing acceptor site in exon 2) compared to variant 1, that results in a frameshift

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain limbic system hippocampus       brain forebrain cerebral cortex

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage
cell lines
fluid/secretion	blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

seven transmembrane segments (7TM) receptor

conjugated

GlycoP

HOMOLOGY

interspecies	ortholog to rattus Gnrhr
	ortholog to murine Gnrhr

Homologene

FAMILY	G protein coupled receptor superfamily
	G-protein coupled receptor 1 family

CATEGORY

signaling hormone , receptor membrane G

SUBCELLULAR LOCALIZATION	plasma membrane
text	integral to plasma membrane

basic FUNCTION	mediating the action of GnRH to stimulate the secretion of the gonadotropic hormones (LH and FSH)
	mediating its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule

protein

NBL1 is a novel autocrine/paracrine factor that modulates GNRHR function in pituitary gonadotropes

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

GNRHR , HH7

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS