NP_000224.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
39.6 kDa
NCBI Official Full Name
lutropin-choriogonadotropic hormone receptor
NCBI Official Synonym Full Names
luteinizing hormone/choriogonadotropin receptor
NCBI Official Synonym Symbols
HHG; LHR; LCGR; LGR2; ULG5; LHRHR; LSH-R; LH/CGR; LH/CG-R [Similar Products]
NCBI Protein Information
lutropin-choriogonadotropic hormone receptor
UniProt Protein Name
Lutropin-choriogonadotropic hormone receptor
UniProt Synonym Protein Names
Luteinizing hormone receptor; LHR; LSH-R
UniProt Synonym Gene Names
UniProt Entry Name
LSHR_HUMAN
NCBI Summary for LHCGR
This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008]
UniProt Comments for LHCGR
LHR: Receptor for lutropin-choriogonadotropic hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Defects in LHCGR are a cause of familial male precocious puberty (FMPP); also known as testotoxicosis. In FMPP the receptor is constitutively activated. Defects in LHCGR are the cause of luteinizing hormone resistance (LHR); also known as Leydig cell hypoplasia in males. LHR is an autosomal recessive disorder characterized by unresponsiveness to luteinizing hormone, defective sexual development in males, and defective follicular development and ovulation, amenorrhea and infertility in females. Two forms of the disorder have been defined in males. Type 1 is a severe form characterized by complete 46,XY male pseudohermaphroditism, low testosterone and high luteinizing hormone levels, total lack of responsiveness to luteinizing and chorionic gonadotropin hormones, lack of breast development, and absent development of secondary male sex characteristics. Type 2, a milder form, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias. Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: GPCR, family 1; Membrane protein, multi-pass; Receptor, GPCR; Membrane protein, integral
Chromosomal Location of Human Ortholog: 2p21
Cellular Component: endosome; integral to plasma membrane; plasma membrane
Molecular Function: lutropin-choriogonadotropic hormone receptor activity; peptide receptor activity, G-protein coupled
Biological Process: adenylate cyclase activation; cognition; G-protein coupled receptor protein signaling pathway; G-protein signaling, adenylate cyclase activating pathway; G-protein signaling, coupled to cyclic nucleotide second messenger; G-protein signaling, coupled to IP3 second messenger (phospholipase C activating); hormone-mediated signaling; luteinizing hormone signaling pathway; male genitalia development; male gonad development; ovulation cycle process; positive regulation of inositol trisphosphate biosynthetic process
Disease: Leydig Cell Hypoplasia, Type I; Precocious Puberty, Male-limited
Product References and Citations for LHCGR recombinant protein
Cloning and sequencing of human LH/hCG receptor cDNA.Minegish T., Nakamura K., Takakura Y., Miyamoto K., Hasegawa Y., Ibuki Y., Igarashi M.Biochem. Biophys. Res. Commun. 172:1049-1054(1990)
Expression of human luteinizing hormone (LH)
receptor
interaction with LH and chorionic gonadotropin from human but not equine, rat, and ovine species.Jia X.-C., Oikawa M., Bo M., Tanaka T., Ny T., Boime I., Hsueh A.J.W.Mol. Endocrinol. 5:759-768(1991)
Isolation of TSH and LH/CG receptor cDNAs from human thyroid
regulation by tissue specific splicing.Frazier A.L., Robbins L.S., Stork P.J., Sprengel R., Segaloff D.L., Cone R.D.Mol. Endocrinol. 4:1264-1276(1990)
Structure of the human luteinizing hormone-choriogonadotropin receptor gene
unusual promoter and 5' non-coding regions.Atger M., Misrahi M., Sar S., Leflem L., Dessen P., Milgrom E.Mol. Cell. Endocrinol. 111:113-123(1995)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4.Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.Nature 434:724-731(2005)
Genomic distribution and gonadal mRNA expression of two human luteinizing hormone receptor exon 1 sequences in random populations.Tsai-Morris C.-H., Geng Y., Buczko E., Dehejia A., Dufau M.L.Hum. Hered. 49:48-51(1999)
Evidence that palmitoylation of carboxyl terminus cysteine residues of the human luteinizing hormone receptor regulates postendocytic processing.Munshi U.M., Clouser C.L., Peegel H., Menon K.M.Mol. Endocrinol. 19:749-758(2005)
Structural predictions for the ligand-binding region of glycoprotein hormone receptors and the nature of hormone-receptor interactions.Jiang X., Dreano M., Buckler D.R., Cheng S., Ythier A., Wu H., Hendrickson W.A., el Tayar N.Structure 3:1341-1353(1995)
Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys
a novel constitutively activating mutation in the first transmembrane helix.Latronico A.C., Shinozaki H., Guerra G. Jr., Pereira M.A.A., Lemos Marini S.H.V., Baptista M.T.M., Arnhold I.J.P., Fanelli F., Mendonca B.B., Segaloff D.L.J. Clin. Endocrinol. Metab. 85:4799-4805(2000)
Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty.Leschek E.W., Chan W.-Y., Diamond D.A., Kaefer M., Jones J., Barnes K.M., Cutler G.B. Jr.J. Pediatr. 138:949-951(2001)
Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia
abnormal processing causes signaling deficiency.Martens J.W.M., Lumbroso S., Verhoef-Post M., Georget V., Richter-Unruh A., Szarras-Czapnik M., Romer T.E., Brunner H.G., Themmen A.P.N., Sultan C.J. Clin. Endocrinol. Metab. 87:2506-2513(2002)
Luteinizing hormone signaling and breast cancer
polymorphisms and age of onset.Powell B.L., Piersma D., Kevenaar M.E., van Staveren I.L., Themmen A.P.N., Iacopetta B.J., Berns E.M.J.J.J. Clin. Endocrinol. Metab. 88:1653-1657(2003)
A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty.Shenker A., Laue L., Kosugi S., Merendino J.J. Jr., Minegishi T., Cutler G.B. Jr.Nature 365:652-654(1993)
Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.Kremer H., Mariman E., Otten B.J., Moll G.W. Jr., Stoelinga G.B.A., Wit J.M., Jansen M., Drop S.L., Faas B., Ropers H.-H., Brunner H.G.Hum. Mol. Genet. 2:1779-1783(1993)
Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.Kosugi S., van Dop C., Geffner M.E., Rabl W., Carel J.-C., Chaussain J.-L., Mori T., Merendino J.J. Jr., Shenker A.Hum. Mol. Genet. 4:183-188(1995)
A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty.Yano K., Saji M., Hidaka A., Moriya N., Okuno A., Kohn L.D., Cutler G.B. Jr.J. Clin. Endocrinol. Metab. 80:1162-1168(1995)
A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.Latronico A.C., Anasti J., Arnhold I.J., Mendonca B.B., Domenice S., Albano M.C., Zachman K., Wajchenberg B.L., Tsigos C.J. Clin. Endocrinol. Metab. 80:2490-2494(1995)
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.Kremer H., Kraaij R., Toledo S.P.A., Post M., Fridman J.B., Hayashida C.Y., van Reen M., Milgrom E., Ropers H.-H., Mariman E., Themmen A.P.N., Brunner H.G.Nat. Genet. 9:160-164(1995)
A missense (T577I)
mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.Cocco S., Meloni A., Marini M.G., Cao A., Moi P.3.3.CO;2-B>Hum. Mutat. 7:164-166(1996)
A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty
genotype does not always correlate with phenotype.Evans B.A.J., Bowen D.J., Smith P.J., Clayton P.E., Gregory J.W.J. Med. Genet. 33:143-147(1996)
Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene.Latronico A.C., Anasti J., Arnhold I.J.P., Rapaport R., Mendonca B.B., Bloise W., Castro M., Tsigos C., Chrousos G.P.N. Engl. J. Med. 334:507-512(1996)
Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor.Misrahi M., Meduri G., Pissard S., Bouvattier C., Beau I., Loosfelt H., Jolivet A., Rappaport R., Milgrom E., Bougneres P.J. Clin. Endocrinol. Metab. 82:2159-2165(1997)
Polymorphisms in the coding exons of the human luteinizing hormone receptor gene.Wu S.-M., Jose M., Hallermeier K., Rennert O.M., Chan W.-Y.3.0.CO;2-D>Hum. Mutat. 11:333-334(1998)
A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty.Gromoll J., Partsch C.-J., Simoni M., Nordhoff V., Sippell W.G., Nieschlag E., Saxena B.B.J. Clin. Endocrinol. Metab. 83:476-480(1998)
A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters.Stavrou S.S., Zhu Y.S., Cai L.Q., Katz M.D., Herrera C., Defillo-Ricart M., Imperato-Mcginley J.J. Clin. Endocrinol. Metab. 83:2091-2098(1998)
A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.Latronico A.C., Abell A.N., Arnhold I.J., Liu X., Lins T.S., Brito V.N., Billerbeck A.E., Segaloff D.L., Mendonca B.B.J. Clin. Endocrinol. Metab. 83:2435-2440(1998)
Evidences for an allelic variant of the human LC/CG receptor rather than a gene duplication
functional comparison of wild-type and variant receptors.Rodien P., Cetani F., Costagliola S., Tonacchera M., Duprez L., Minegishi T., Govaerts C., Vassart G.J. Clin. Endocrinol. Metab. 83:4431-4434(1998)
A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.Latronico A.C., Chai Y., Arnhold I.J.P., Liu X., Mendonca B.B., Segaloff D.L.Mol. Endocrinol. 12:442-450(1998)
A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia
correlation between receptor activity and phenotype.Martens J.W., Verhoef-Post M., Abelin N., Ezabella M., Toledo S.P., Brunner H.G., Themmen A.P.Mol. Endocrinol. 12:775-784(1998)
Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor.Liu G., Duranteau L., Carel J.-C., Monroe J., Doyle D.A., Shenker A.N. Engl. J. Med. 341:1731-1736(1999)
A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in Leydig cell hypoplasia.Leung M.Y.-K., Al-Muslim O., Wu S.-M., Aziz A., Inam S., Awadh M., Rennert O.M., Chan W.-Y.Am. J. Med. Genet. A 130:146-153(2004)
Leydig cell hypoplasia
absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain.Richter-Unruh A., Verhoef-Post M., Malak S., Homoki J., Hauffa B.P., Themmen A.P.N.J. Clin. Endocrinol. Metab. 89:5161-5167(2004)
The consensus coding sequences of human breast and colorectal cancers.Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.Science 314:268-274(2006)
A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism.Qiao J., Han B., Liu B.-L., Chen X., Ru Y., Cheng K.-X., Chen F.-G., Zhao S.-X., Liang J., Lu Y.-L., Tang J.-F., Wu Y.-X., Wu W.-L., Chen J.-L., Chen M.-D., Song H.-D.Hum. Mutat. 30:E855-E865(2009)
+Additional computationally mapped references.<p>Provides general information on the entry.
Research Articles on LHCGR
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Products associated with LHCGR recombinant protein
Pathways associated with LHCGR recombinant protein
Diseases associated with LHCGR recombinant protein
Organs/Tissues associated with LHCGR recombinant protein
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