LOCUS NP_001012781 249 aa linear PRI 14-SEP-2008
DEFINITION gonadotropin-releasing hormone receptor isoform 2 [Homo sapiens].
ACCESSION NP_001012781
VERSION NP_001012781.1 GI:61676184
DBSOURCE REFSEQ: accession NM_001012763.1
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 249)
AUTHORS Knollman,P.E. and Conn,P.M.
TITLE Multiple G proteins compete for binding with the human gonadotropin
releasing hormone receptor
JOURNAL Arch. Biochem. Biophys. 477 (1), 92-97 (2008)
PUBMED 18541137
REMARK GeneRIF: Transient co-transfection of HEK293 cells with human WT
GnRHR and with stimulatory and inhibitory G proteins led to either
production or inhibition of total inositol phosphate production,
depending on the G protein that was over-expressed
REFERENCE 2 (residues 1 to 249)
AUTHORS Abreu,A.P., Trarbach,E.B., de Castro,M., Costa,E.M., Versiani,B.,
Baptista,M.T., Garmes,H.M., Mendonca,B.B. and Latronico,A.C.
TITLE LOSS-OF-FUNCTION MUTATIONS IN THE GENES ENCODING PROKINETICIN-2 OR
PROKINETICIN RECEPTOR-2 CAUSE AUTOSOMAL RECESSIVE KALLMANN SYNDROME
JOURNAL J. Clin. Endocrinol. Metab. (2008) In press
PUBMED 18682503
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Available-Online prior to print
REFERENCE 3 (residues 1 to 249)
AUTHORS Pedersen-White,J.R., Chorich,L.P., Bick,D.P., Sherins,R.J. and
Layman,L.C.
TITLE The prevalence of intragenic deletions in patients with idiopathic
hypogonadotropic hypogonadism and Kallmann syndrome
JOURNAL Mol. Hum. Reprod. 14 (6), 367-370 (2008)
PUBMED 18463157
REMARK GeneRIF: 12% of Kallman syndrome males have KAL1 deletions, but
intragenic deletions of the FGFR1, GNRH1, GNRHR, GPR54 and NELF
genes are uncommon in Idiopathic hypogonadotropic
hypogonadism/Kallman syndrome.
REFERENCE 4 (residues 1 to 249)
AUTHORS Pfleger,K.D., Pawson,A.J. and Millar,R.P.
TITLE Changes to gonadotropin-releasing hormone (GnRH) receptor
extracellular loops differentially affect GnRH analog binding and
activation: evidence for distinct ligand-stabilized receptor
conformations
JOURNAL Endocrinology 149 (6), 3118-3129 (2008)
PUBMED 18356273
REMARK GeneRIF: Two endogenous forms of GnRH ligand but only one
functional form of full-length GnRH receptor in humans elecits
specific functions of the receptor.
REFERENCE 5 (residues 1 to 249)
AUTHORS Finch,A.R., Sedgley,K.R., Caunt,C.J. and McArdle,C.A.
TITLE Plasma membrane expression of GnRH receptors: regulation by
antagonists in breast, prostate, and gonadotrope cell lines
JOURNAL J. Endocrinol. 196 (2), 353-367 (2008)
PUBMED 18252959
REMARK GeneRIF: We have defined the proportion of GnRHRs at the cell
surface.
REFERENCE 6 (residues 1 to 249)
AUTHORS Leung,P.C., Squire,J., Peng,C., Fan,N., Hayden,M.R. and
Olofsson,J.I.
TITLE Mapping of the gonadotropin-releasing hormone (GnRH) receptor gene
to human chromosome 4q21.2 by fluorescence in situ hybridization
JOURNAL Mamm. Genome 6 (4), 309-310 (1995)
PUBMED 7613048
REFERENCE 7 (residues 1 to 249)
AUTHORS Fan,N.C., Peng,C., Krisinger,J. and Leung,P.C.
TITLE The human gonadotropin-releasing hormone receptor gene: complete
structure including multiple promoters, transcription initiation
sites, and polyadenylation signals
JOURNAL Mol. Cell. Endocrinol. 107 (2), R1-R8 (1995)
PUBMED 7768323
REMARK GeneRIF: Reports complete structure of human gonadotropin-releasing
hormone receptor gene with figure 2 showing multiple promoters,
transcription sites, and polyadenylation signals.
REFERENCE 8 (residues 1 to 249)
AUTHORS Kakar,S.S., Grizzle,W.E. and Neill,J.D.
TITLE The nucleotide sequences of human GnRH receptors in breast and
ovarian tumors are identical with that found in pituitary
JOURNAL Mol. Cell. Endocrinol. 106 (1-2), 145-149 (1994)
PUBMED 7534732
REFERENCE 9 (residues 1 to 249)
AUTHORS Fan,N.C., Jeung,E.B., Peng,C., Olofsson,J.I., Krisinger,J. and
Leung,P.C.
TITLE The human gonadotropin-releasing hormone (GnRH) receptor gene:
cloning, genomic organization and chromosomal assignment
JOURNAL Mol. Cell. Endocrinol. 103 (1-2), R1-R6 (1994)
PUBMED 7958384
REFERENCE 10 (residues 1 to 249)
AUTHORS Kakar,S.S., Musgrove,L.C., Devor,D.C., Sellers,J.C. and Neill,J.D.
TITLE Cloning, sequencing, and expression of human gonadotropin releasing
hormone (GnRH) receptor
JOURNAL Biochem. Biophys. Res. Commun. 189 (1), 289-295 (1992)
PUBMED 1333190
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AC079880.6, Z81148.1 and
L03380.1.
Summary: This gene encodes the receptor for type 1
gonadotropin-releasing hormone. This receptor is a member of the
seven-transmembrane, G-protein coupled receptor (GPCR) family. It
is expressed on the surface of pituitary gonadotrope cells as well
as lymphocytes, breast, ovary, and prostate. Following binding of
gonadotropin-releasing hormone, the receptor associates with
G-proteins that activate a phosphatidylinositol-calcium second
messenger system. Activation of the receptor ultimately causes the
release of gonadotropic luteinizing hormone (LH) and follicle
stimulating hormone (FSH). Defects in this gene are a cause of
hypogonadotropic hypogonadism (HH). Alternative splicing results in
multiple transcript variants encoding different isoforms. More than
18 transcription initiation sites in the 5' region and multiple
polyA signals in the 3' region have been identified for this gene.
[provided by RefSeq].
Transcript Variant: This variant (2) uses an alternate splice site
in the coding region, compared to variant 1, that results in a
frameshift. It encodes isoform 2 which has a shorter and distinct
C-terminus compared to isoform 1. Isoform 2 may act as an inhibitor
of gonadotropin-releasing hormone receptor signaling.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the
Entrez Gene record to access additional publications.
FEATURES Location/Qualifiers
source 1..249
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="4"
/map="4q21.2"
Protein 1..249
/product="gonadotropin-releasing hormone receptor isoform
2"
/note="leutinizing-releasing hormone receptor; type I GnRH
receptor; gonadotropin-releasing hormone (type 1) receptor
1; leutinizing hormone releasing horomone receptor;
luliberin receptor"
/calculated_mol_wt=27596
CDS 1..249
/gene="GNRHR"
/gene_synonym="GRHR"
/gene_synonym="LRHR"
/gene_synonym="LHRHR"
/gene_synonym="GNRHR1"
/coded_by="NM_001012763.1:1752..2501"
/note="isoform 2 is encoded by transcript variant 2"
/db_xref="GeneID:2798"
/db_xref="HGNC:4421"
/db_xref="HPRD:00732"
/db_xref="MIM:138850"
ORIGIN
1 mansaspeqn qnhcsainns iplmqgnlpt ltlsgkirvt vtfflfllsa tfnasfllkl
61 qkwtqkkekg kklsrmklll khltlanlle tlivmpldgm wnitvqwyag ellckvlsyl
121 klfsmyapaf mmvvisldrs laitrplalk snskvgqsmv glawilssvf agpqlplhhp
181 sfhhadlqck nhlhpdtgps sgpprtttes vqeqytksta edskndgcic hfiyclldsl
241 lcprnlvlv
//