SpermatogenesisOnline 1.0
 

Tag Content
SG ID
SG00000533 
UniProt Accession
Theoretical PI
7.83  
Molecular Weight
78643 Da  
Genbank Nucleotide ID
Genbank Protein ID
Gene Name
LHCGR 
Gene Synonyms/Alias
LCGR, LGR2, LHRHR 
Protein Name
Lutropin-choriogonadotropic hormone receptor 
Protein Synonyms/Alias
LH/CG-R Luteinizing hormone receptor;LHRLSH-RFlags: Precursor 
Organism
Homo sapiens (Human) 
NCBI Taxonomy ID
9606 
Chromosome Location
chr:2;48859428-48982880;-1
View in Ensembl genome browser  
Function in Stage
Function in Cell Type
Description
In men with maldescensus, a high LH drive maintains normal testosterone levels but this LH resistance is not associated with any particular LHCGR genotype. A significant association with the S312N polymorphism in exon 10 of the LHCGR is correlated to the spermatogenetic damage rather than to the maldescensus itself. Either the LHCGR itself or another genomic region linked to this SNP, possibly the germ cell-specific TFIIA-alpha/beta-like factor gene transcribed from the same genomic region in the opposite direction, is a risk factor for male infertility. 
The information of related literatures
1. M. Simoni, F. Tuttelmann, C. Michel, Y. Bockenfeld, E. Nieschlag and J. Gromoll (2008) Polymorphisms of the luteinizing hormone/chorionic gonadotropin receptor gene. Pharmacogenet Genomics 18(3): 193-200. 

Abstract
OBJECTIVE PMID: [18300940] 

2. M. Bruysters, S. Christin-Maitre, M. Verhoef-Post, C. Sultan, J. Auger, I. Faugeron, L. Larue, S. Lumbroso, A. P. Themmen and P. Bouchard (2008) A new LH receptor splice mutation responsible for male hypogonadism with subnormal sperm production in the propositus, and infertility with regular cycles in an affected sister. Hum Reprod 23(8): 1917-23. 

Abstract
BACKGROUND PMID: [18508780] 

3. J. Gromoll, A. Schulz, H. Borta, T. Gudermann, K. J. Teerds, A. Greschniok, E. Nieschlag and F. J. Seif (2002) Homozygous mutation within the conserved Ala-Phe-Asn-Glu-Thr motif of exon 7 of the LH receptor causes male pseudohermaphroditism. Eur J Endocrinol 147(5): 597-608. 

Abstract
BACKGROUND PMID: [12444891] 

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Figures for illustrating the function of this protein/gene
Function
Receptor for lutropin-choriogonadotropic hormone. Theactivity of this receptor is mediated by G proteins which activateadenylate cyclase. 
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Subcellular Location
Cell membrane; Multi-pass membrane protein. 
Tissue Specificity
Gonadal and thyroid cells. 
Gene Ontology
GO IDGO termEvidence
GO:0005783 C:endoplasmic reticulum IEA:Compara.
GO:0005768 C:endosome TAS:ProtInc.
GO:0005615 C:extracellular space IEA:Compara.
GO:0005887 C:integral to plasma membrane ISS:BHF-UCL.
GO:0031233 C:intrinsic to external side of plasma membrane IEA:Compara.
GO:0005764 C:lysosome IEA:Compara.
GO:0005634 C:nucleus IEA:Compara.
GO:0043235 C:receptor complex IEA:Compara.
GO:0038106 F:choriogonadotropin hormone binding ISS:BHF-UCL.
GO:0035472 F:choriogonadotropin hormone receptor activity ISS:BHF-UCL.
GO:0008528 F:G-protein coupled peptide receptor activity IEA:Compara.
GO:0004964 F:luteinizing hormone receptor activity IEA:InterPro.
GO:0017046 F:peptide hormone binding IEA:Compara.
GO:0007190 P:activation of adenylate cyclase activity ISS:BHF-UCL.
GO:0007188 P:adenylate cyclase-modulating G-protein coupled receptor signaling pathway IEA:Compara.
GO:0050482 P:arachidonic acid secretion IEA:Compara.
GO:0071371 P:cellular response to gonadotropin stimulus ISS:BHF-UCL.
GO:0007417 P:central nervous system development IEA:Compara.
GO:0046544 P:development of secondary male sexual characteristics IEA:Compara.
GO:0007187 P:G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS:ProtInc.
GO:0009755 P:hormone-mediated signaling pathway IEA:Compara.
GO:0030539 P:male genitalia development TAS:ProtInc.
GO:0008584 P:male gonad development TAS:ProtInc.
GO:0001541 P:ovarian follicle development IEA:Compara.
GO:0007200 P:phospholipase C-activating G-protein coupled receptor signaling pathway ISS:BHF-UCL.
GO:0050850 P:positive regulation of calcium-mediated signaling IEA:Compara.
GO:0043950 P:positive regulation of cAMP-mediated signaling ISS:BHF-UCL.
GO:0046886 P:positive regulation of hormone biosynthetic process IEA:Compara.
GO:0032962 P:positive regulation of inositol trisphosphate biosynthetic process ISS:BHF-UCL.
GO:0051281 P:positive regulation of release of sequestered calcium ion into cytosol IEA:Compara.
GO:0006622 P:protein targeting to lysosome IEA:Compara.
GO:0090030 P:regulation of steroid hormone biosynthetic process IEA:Compara.
GO:0042493 P:response to drug IEA:Compara.
GO:0072520 P:seminiferous tubule development IEA:Compara.
GO:0007283 P:spermatogenesis IEA:Compara.
GO:0060065 P:uterus development IEA:Compara.
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Interpro
IPR000276;    7TM_GPCR_Rhodpsn.
IPR017452;    GPCR_Rhodpsn_supfam.
IPR002131;    Gphrmn_rcpt.
IPR000372;    LRR-contain_N.
IPR002273;    LSH_rcpt.
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Pfam
PF00001;    7tm_1;    1.
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SMART
SM00013;    LRRNT;    1.
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PROSITE
PS00237;    G_PROTEIN_RECEP_F1_1;    1.
PS50262;    G_PROTEIN_RECEP_F1_2;    1.
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PRINTS
PR00373;    GLYCHORMONER.;   
PR00237;    GPCRRHODOPSN.;   
PR01144;    LSHRECEPTOR.;   
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Created Date
18-Oct-2012 
Record Type
Experiment identified 
Protein sequence Annotation
SIGNAL        1     26       Potential.
CHAIN        27    699       Lutropin-choriogonadotropic hormone
                             receptor.
                             /FTId=PRO_0000012780.
TOPO_DOM     27    363       Extracellular (Potential).
TRANSMEM    364    385       Helical; Name=1; (Potential).
TOPO_DOM    386    395       Cytoplasmic (Potential).
TRANSMEM    396    416       Helical; Name=2; (Potential).
TOPO_DOM    417    439       Extracellular (Potential).
TRANSMEM    440    462       Helical; Name=3; (Potential).
TOPO_DOM    463    482       Cytoplasmic (Potential).
TRANSMEM    483    505       Helical; Name=4; (Potential).
TOPO_DOM    506    525       Extracellular (Potential).
TRANSMEM    526    549       Helical; Name=5; (Potential).
TOPO_DOM    550    570       Cytoplasmic (Potential).
TRANSMEM    571    594       Helical; Name=6; (Potential).
TOPO_DOM    595    605       Extracellular (Potential).
TRANSMEM    606    627       Helical; Name=7; (Potential).
TOPO_DOM    628    699       Cytoplasmic (Potential).
DOMAIN       27     66       LRRNT.
REPEAT       96    115       LRR 1.
REPEAT      124    145       LRR 2.
REPEAT      149    171       LRR 3.
REPEAT      175    196       LRR 4.
REPEAT      198    220       LRR 5.
REPEAT      223    244       LRR 6.
LIPID       643    643       S-palmitoyl cysteine.
LIPID       644    644       S-palmitoyl cysteine.
CARBOHYD     99     99       N-linked (GlcNAc...) (Potential).
CARBOHYD    174    174       N-linked (GlcNAc...) (Potential).
CARBOHYD    195    195       N-linked (GlcNAc...) (Potential).
CARBOHYD    291    291       N-linked (GlcNAc...) (Potential).
CARBOHYD    299    299       N-linked (GlcNAc...) (Potential).
CARBOHYD    313    313       N-linked (GlcNAc...) (Potential).
DISULFID    439    514       By similarity.
VAR_SEQ     227    289       Missing (in isoform Short).
                             /FTId=VSP_001962.
VARIANT      18     18       Q -> QLQ (may be associated with earlier
                             age of onset of breast cancer and poor
                             prognosis).
                             /FTId=VAR_003549.
VARIANT     131    131       C -> R (in LHR; Leydig cell hypoplasia
                             type 2).
                             /FTId=VAR_010154.
VARIANT     144    144       V -> F (in LHR; Leydig cell hypoplasia
                             type 1; exhibits a marked impairment of
                             human chorionic gonadotropin binding;
                             shows the absence of the glycosylated
                             cell surface form; the mutant receptor is
                             retained in the endoplasmic reticulum;
                             mutant receptors do not migrate to the
                             cell surface).
                             /FTId=VAR_062336.
VARIANT     152    152       I -> T (in LHR; reveals a marked
                             impairment of human chorionic
                             gonadotropin binding and signal
                             transduction).
                             /FTId=VAR_062337.
VARIANT     284    284       N -> S.
                             /FTId=VAR_003550.
VARIANT     291    291       N -> S (in dbSNP:rs12470652).
                             /FTId=VAR_055922.
VARIANT     306    306       S -> N.
                             /FTId=VAR_003551.
VARIANT     312    312       N -> S (in dbSNP:rs2293275).
                             /FTId=VAR_060737.
VARIANT     343    343       C -> S (in LHR; Leydig cell hypoplasia
                             type 1; completely devoided of hormone-
                             induced cAMP reporter gene activation;
                             although initial translocation to the
                             endoplasmic reticulum is normal
                             translocation is halted or misrouted and
                             the mutant does not reach the cell
                             surface and cannot bind hormone).
                             /FTId=VAR_010155.
VARIANT     354    354       E -> K (in LHR; Leydig cell hypoplasia
                             type 1).
                             /FTId=VAR_003552.
VARIANT     368    368       L -> P (in FMPP; cells expressing the
                             mutation display up to a 12-fold increase
                             in basal cAMP production compared with
                             cells expressing the same number of cell
                             surface wild-type receptor indicating
                             constitutive activation of the mutant
                             receptor).
                             /FTId=VAR_062338.
VARIANT     373    373       A -> V (in FMPP).
                             /FTId=VAR_003553.
VARIANT     398    398       M -> T (in FMPP).
                             /FTId=VAR_003554.
VARIANT     457    457       L -> R (in FMPP).
                             /FTId=VAR_010156.
VARIANT     502    502       L -> P (in LHR; Leydig cell hypoplasia
                             type 1; shows reduced cAMP production and
                             ligand binding; receptor trafficking is
                             not affected by the mutation).
                             /FTId=VAR_062339.
VARIANT     542    542       I -> L (in FMPP).
                             /FTId=VAR_010157.
VARIANT     543    543       C -> R (in LHR; Leydig cell hypoplasia
                             type 1; completely devoided of hormone-
                             induced cAMP reporter gene activation;
                             although initial translocation to the
                             endoplasmic reticulum is normal
                             translocation is halted or misrouted and
                             the mutant does not reach the cell
                             surface and cannot bind hormone).
                             /FTId=VAR_010158.
VARIANT     564    564       D -> G (in FMPP).
                             /FTId=VAR_010159.
VARIANT     564    564       D -> N (in a breast cancer sample;
                             somatic mutation).
                             /FTId=VAR_035764.
VARIANT     568    568       A -> V (in FMPP).
                             /FTId=VAR_003555.
VARIANT     571    571       M -> I (in FMPP).
                             /FTId=VAR_003556.
VARIANT     572    572       A -> V (in FMPP).
                             /FTId=VAR_003557.
VARIANT     575    575       I -> L (in FMPP).
                             /FTId=VAR_010160.
VARIANT     577    577       T -> I (in FMPP).
                             /FTId=VAR_003558.
VARIANT     578    578       D -> E (in FMPP).
                             /FTId=VAR_010161.
VARIANT     578    578       D -> G (in FMPP).
                             /FTId=VAR_003559.
VARIANT     578    578       D -> H (in Leydig cell tumor; somatic
                             mutation; causes receptor activation and
                             precocious puberty).
                             /FTId=VAR_010162.
VARIANT     578    578       D -> Y (in FMPP).
                             /FTId=VAR_010163.
VARIANT     581    581       C -> R (in FMPP).
                             /FTId=VAR_010164.
VARIANT     593    593       A -> P (in LHR; Leydig cell hypoplasia
                             type 1; abolishes signal transduction).
                             /FTId=VAR_003560.
VARIANT     608    609       Missing (in LHR; Leydig cell hypoplasia
                             type 1).
                             /FTId=VAR_003561.
VARIANT     616    616       S -> Y (in LHR; Leydig cell hypoplasia
                             type 1; micropenis).
                             /FTId=VAR_003562.
VARIANT     625    625       I -> K (in LHR; Leydig cell hypoplasia
                             type 2).
                             /FTId=VAR_003563.
MUTAGEN     643    643       C->G: Loss of palmitoylation.
MUTAGEN     644    644       C->G: Loss of palmitoylation.
CONFLICT      7      7       A -> P (in Ref. 3; AAA70231).
CONFLICT     19     19       P -> A (in Ref. 3; AAA70231).
CONFLICT     27     28       EA -> R (in Ref. 3; AAA70231).
CONFLICT     44     51       CPGPTAGL -> APAPRPS (in Ref. 3;
                             AAA70231).
CONFLICT     68     68       A -> S (in Ref. 3; AAA70231).
CONFLICT    124    124       R -> G (in Ref. 1; AAA59515 and 4;
                             CAA59234).
CONFLICT    262    263       RE -> KQ (in Ref. 3; AAA70231).
CONFLICT    270    270       E -> R (in Ref. 3; AAA70231).
CONFLICT    274    274       T -> H (in Ref. 3; AAA70231).
CONFLICT    290    290       Q -> L (in Ref. 3; AAA70231).
CONFLICT    311    323       Missing (in Ref. 3; AAA70231).
CONFLICT    448    448       F -> L (in Ref. 3; AAA70231).
CONFLICT    540    540       F -> L (in Ref. 3; AAA70231).
CONFLICT    649    649       E -> DP (in Ref. 3; AAA70231).
STRAND       53     55
TURN         64     66
HELIX        67     69
STRAND       77     79
STRAND       87     89
TURN         94     96
STRAND      102    104
TURN        111    113
HELIX       117    119
STRAND      127    129
HELIX       138    141
HELIX       142    145
STRAND      146    149
STRAND      152    154
TURN        159    163
TURN        167    170
STRAND      178    180
TURN        189    195
STRAND      200    203
TURN        208    212
HELIX       216    218
STRAND      226    228
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Nucleotide Sequence
Length: 2995 bp   Go to nucleotide: FASTA
Protein Sequence
Length: 699 bp   Go to amino acid: FASTA
The verified Protein-Protein interaction information
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