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P22888

- LSHR_HUMAN

UniProt

P22888 - LSHR_HUMAN

Protein

Lutropin-choriogonadotropic hormone receptor

Gene

LHCGR

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 173 (01 Oct 2014)
      Sequence version 4 (15 Dec 2009)
      Previous versions | rss
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    Functioni

    Receptor for lutropin-choriogonadotropic hormone. The activity of this receptor is mediated by G proteins which activate adenylate cyclase.

    GO - Molecular functioni

    1. choriogonadotropin hormone binding Source: BHF-UCL
    2. choriogonadotropin hormone receptor activity Source: BHF-UCL
    3. luteinizing hormone receptor activity Source: InterPro

    GO - Biological processi

    1. activation of adenylate cyclase activity Source: BHF-UCL
    2. cellular response to gonadotropin stimulus Source: BHF-UCL
    3. cognition Source: UniProt
    4. development of secondary male sexual characteristics Source: Ensembl
    5. G-protein coupled receptor signaling pathway Source: ProtInc
    6. G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger Source: ProtInc
    7. male genitalia development Source: ProtInc
    8. male gonad development Source: ProtInc
    9. ovarian follicle development Source: Ensembl
    10. phospholipase C-activating G-protein coupled receptor signaling pathway Source: BHF-UCL
    11. positive regulation of cAMP-mediated signaling Source: BHF-UCL
    12. positive regulation of inositol trisphosphate biosynthetic process Source: BHF-UCL
    13. regulation of steroid hormone biosynthetic process Source: Ensembl
    14. seminiferous tubule development Source: Ensembl
    15. spermatogenesis Source: Ensembl
    16. uterus development Source: Ensembl

    Keywords - Molecular functioni

    G-protein coupled receptor, Receptor, Transducer

    Enzyme and pathway databases

    ReactomeiREACT_16942. Hormone ligand-binding receptors.
    REACT_19327. G alpha (s) signalling events.
    SignaLinkiP22888.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Lutropin-choriogonadotropic hormone receptor
    Short name:
    LH/CG-R
    Alternative name(s):
    Luteinizing hormone receptor
    Short name:
    LHR
    Short name:
    LSH-R
    Gene namesi
    Name:LHCGR
    Synonyms:LCGR, LGR2, LHRHR
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:6585. LHCGR.

    Subcellular locationi

    GO - Cellular componenti

    1. endosome Source: ProtInc
    2. integral component of plasma membrane Source: BHF-UCL
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Familial male precocious puberty (FMPP) [MIM:176410]: In FMPP the receptor is constitutively activated.11 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti368 – 3681L → 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. 1 Publication
    VAR_062338
    Natural varianti373 – 3731A → V in FMPP. 1 Publication
    VAR_003553
    Natural varianti398 – 3981M → T in FMPP. 1 Publication
    VAR_003554
    Natural varianti457 – 4571L → R in FMPP. 1 Publication
    VAR_010156
    Natural varianti542 – 5421I → L in FMPP.
    VAR_010157
    Natural varianti564 – 5641D → G in FMPP. 1 Publication
    VAR_010159
    Natural varianti568 – 5681A → V in FMPP. 2 Publications
    VAR_003555
    Natural varianti571 – 5711M → I in FMPP. 1 Publication
    VAR_003556
    Natural varianti572 – 5721A → V in FMPP. 1 Publication
    VAR_003557
    Natural varianti575 – 5751I → L in FMPP.
    VAR_010160
    Natural varianti577 – 5771T → I in FMPP. 2 Publications
    VAR_003558
    Natural varianti578 – 5781D → E in FMPP.
    VAR_010161
    Natural varianti578 – 5781D → G in FMPP. 2 Publications
    VAR_003559
    Natural varianti578 – 5781D → Y in FMPP.
    VAR_010163
    Natural varianti581 – 5811C → R in FMPP.
    VAR_010164
    Luteinizing hormone resistance (LHR) [MIM:238320]: 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.10 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti131 – 1311C → R in LHR; Leydig cell hypoplasia type 2. 1 Publication
    VAR_010154
    Natural varianti144 – 1441V → 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. 1 Publication
    Corresponds to variant rs121912539 [ dbSNP | Ensembl ].
    VAR_062336
    Natural varianti152 – 1521I → T in LHR; reveals a marked impairment of human chorionic gonadotropin binding and signal transduction. 1 Publication
    VAR_062337
    Natural varianti343 – 3431C → 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. 1 Publication
    VAR_010155
    Natural varianti354 – 3541E → K in LHR; Leydig cell hypoplasia type 1. 1 Publication
    VAR_003552
    Natural varianti502 – 5021L → P in LHR; Leydig cell hypoplasia type 1; shows reduced cAMP production and ligand binding; receptor trafficking is not affected by the mutation. 1 Publication
    VAR_062339
    Natural varianti543 – 5431C → 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. 1 Publication
    VAR_010158
    Natural varianti593 – 5931A → P in LHR; Leydig cell hypoplasia type 1; abolishes signal transduction. 1 Publication
    VAR_003560
    Natural varianti608 – 6092Missing in LHR; Leydig cell hypoplasia type 1. 1 Publication
    VAR_003561
    Natural varianti616 – 6161S → Y in LHR; Leydig cell hypoplasia type 1; micropenis. 1 Publication
    VAR_003562
    Natural varianti625 – 6251I → K in LHR; Leydig cell hypoplasia type 2. 1 Publication
    VAR_003563

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi643 – 6431C → G: Loss of palmitoylation. 1 Publication
    Mutagenesisi644 – 6441C → G: Loss of palmitoylation. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi152790. gene+phenotype.
    176410. phenotype.
    238320. phenotype.
    Orphaneti3000. Familial male-limited precocious puberty.
    96265. Leydig cell hypoplasia due to complete LH resistance.
    96266. Leydig cell hypoplasia due to partial LH resistance.
    619. Primary ovarian failure.
    PharmGKBiPA30357.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2626Sequence AnalysisAdd
    BLAST
    Chaini27 – 699673Lutropin-choriogonadotropic hormone receptorPRO_0000012780Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi99 – 991N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi174 – 1741N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi195 – 1951N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi291 – 2911N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi299 – 2991N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi313 – 3131N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi439 ↔ 514PROSITE-ProRule annotation
    Lipidationi643 – 6431S-palmitoyl cysteine1 Publication
    Lipidationi644 – 6441S-palmitoyl cysteine1 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Lipoprotein, Palmitate

    Proteomic databases

    PaxDbiP22888.
    PRIDEiP22888.

    PTM databases

    PhosphoSiteiP22888.

    Expressioni

    Tissue specificityi

    Gonadal and thyroid cells.

    Gene expression databases

    ArrayExpressiP22888.
    BgeeiP22888.
    CleanExiHS_LHCGR.
    GenevestigatoriP22888.

    Organism-specific databases

    HPAiCAB009814.

    Interactioni

    Protein-protein interaction databases

    BioGridi110161. 4 interactions.
    STRINGi9606.ENSP00000294954.

    Structurei

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1LUTmodel-A51-232[»]
    1XULmodel-C51-232[»]
    ProteinModelPortaliP22888.
    SMRiP22888. Positions 7-645.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini27 – 363337ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini386 – 39510CytoplasmicSequence Analysis
    Topological domaini417 – 43923ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini463 – 48220CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini506 – 52520ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini550 – 57021CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini595 – 60511ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini628 – 69972CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei364 – 38522Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei396 – 41621Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei440 – 46223Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei483 – 50523Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei526 – 54924Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei571 – 59424Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei606 – 62722Helical; Name=7Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini27 – 6640LRRNTAdd
    BLAST
    Repeati96 – 11520LRR 1Add
    BLAST
    Repeati124 – 14522LRR 2Add
    BLAST
    Repeati149 – 17123LRR 3Add
    BLAST
    Repeati175 – 19622LRR 4Add
    BLAST
    Repeati198 – 22023LRR 5Add
    BLAST
    Repeati223 – 24422LRR 6Add
    BLAST

    Sequence similaritiesi

    Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.PROSITE-ProRule annotation
    Contains 6 LRR (leucine-rich) repeats.Curated
    Contains 1 LRRNT domain.Curated

    Keywords - Domaini

    Leucine-rich repeat, Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG285844.
    HOGENOMiHOG000045902.
    HOVERGENiHBG003521.
    InParanoidiP22888.
    KOiK04248.
    OMAiIYFAVQN.
    OrthoDBiEOG73BVCG.
    PhylomeDBiP22888.
    TreeFamiTF316814.

    Family and domain databases

    Gene3Di1.20.1070.10. 1 hit.
    InterProiIPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    IPR002131. Gphrmn_rcpt_fam.
    IPR000372. LRR-contain_N.
    IPR026906. LRR_5.
    IPR002273. LSH_rcpt.
    [Graphical view]
    PANTHERiPTHR24372. PTHR24372. 1 hit.
    PTHR24372:SF1. PTHR24372:SF1. 1 hit.
    PfamiPF00001. 7tm_1. 1 hit.
    PF13306. LRR_5. 2 hits.
    [Graphical view]
    PRINTSiPR00373. GLYCHORMONER.
    PR00237. GPCRRHODOPSN.
    PR01144. LSHRECEPTOR.
    SMARTiSM00013. LRRNT. 1 hit.
    [Graphical view]
    PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
    PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Note: Additional isoforms seem to exist.

    Isoform Long (identifier: P22888-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MKQRFSALQL LKLLLLLQPP LPRALREALC PEPCNCVPDG ALRCPGPTAG    50
    LTRLSLAYLP VKVIPSQAFR GLNEVIKIEI SQIDSLERIE ANAFDNLLNL 100
    SEILIQNTKN LRYIEPGAFI NLPRLKYLSI CNTGIRKFPD VTKVFSSESN 150
    FILEICDNLH ITTIPGNAFQ GMNNESVTLK LYGNGFEEVQ SHAFNGTTLT 200
    SLELKENVHL EKMHNGAFRG ATGPKTLDIS STKLQALPSY GLESIQRLIA 250
    TSSYSLKKLP SRETFVNLLE ATLTYPSHCC AFRNLPTKEQ NFSHSISENF 300
    SKQCESTVRK VNNKTLYSSM LAESELSGWD YEYGFCLPKT PRCAPEPDAF 350
    NPCEDIMGYD FLRVLIWLIN ILAIMGNMTV LFVLLTSRYK LTVPRFLMCN 400
    LSFADFCMGL YLLLIASVDS QTKGQYYNHA IDWQTGSGCS TAGFFTVFAS 450
    ELSVYTLTVI TLERWHTITY AIHLDQKLRL RHAILIMLGG WLFSSLIAML 500
    PLVGVSNYMK VSICFPMDVE TTLSQVYILT ILILNVVAFF IICACYIKIY 550
    FAVRNPELMA TNKDTKIAKK MAILIFTDFT CMAPISFFAI SAAFKVPLIT 600
    VTNSKVLLVL FYPINSCANP FLYAIFTKTF QRDFFLLLSK FGCCKRRAEL 650
    YRRKDFSAYT SNCKNGFTGS NKPSQSTLKL STLHCQGTAL LDKTRYTEC 699
    Length:699
    Mass (Da):78,643
    Last modified:December 15, 2009 - v4
    Checksum:i2E3D93F4621BA842
    GO
    Isoform Short (identifier: P22888-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         227-289: Missing.

    Show »
    Length:636
    Mass (Da):71,615
    Checksum:i969918F83E700C85
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti7 – 71A → P in AAA70231. (PubMed:2293030)Curated
    Sequence conflicti19 – 191P → A in AAA70231. (PubMed:2293030)Curated
    Sequence conflicti27 – 282EA → R in AAA70231. (PubMed:2293030)Curated
    Sequence conflicti44 – 518CPGPTAGL → APAPRPS in AAA70231. (PubMed:2293030)Curated
    Sequence conflicti68 – 681A → S in AAA70231. (PubMed:2293030)Curated
    Sequence conflicti124 – 1241R → G in AAA59515. (PubMed:2244890)Curated
    Sequence conflicti124 – 1241R → G in CAA59234. (PubMed:7556872)Curated
    Sequence conflicti262 – 2632RE → KQ in AAA70231. (PubMed:2293030)Curated
    Sequence conflicti270 – 2701E → R in AAA70231. (PubMed:2293030)Curated
    Sequence conflicti274 – 2741T → H in AAA70231. (PubMed:2293030)Curated
    Sequence conflicti290 – 2901Q → L in AAA70231. (PubMed:2293030)Curated
    Sequence conflicti311 – 32313Missing in AAA70231. (PubMed:2293030)CuratedAdd
    BLAST
    Sequence conflicti448 – 4481F → L in AAA70231. (PubMed:2293030)Curated
    Sequence conflicti540 – 5401F → L in AAA70231. (PubMed:2293030)Curated
    Sequence conflicti649 – 6491E → DP in AAA70231. (PubMed:2293030)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti18 – 181Q → QLQ May be associated with earlier age of onset of breast cancer and poor prognosis. 2 Publications
    VAR_003549
    Natural varianti131 – 1311C → R in LHR; Leydig cell hypoplasia type 2. 1 Publication
    VAR_010154
    Natural varianti144 – 1441V → 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. 1 Publication
    Corresponds to variant rs121912539 [ dbSNP | Ensembl ].
    VAR_062336
    Natural varianti152 – 1521I → T in LHR; reveals a marked impairment of human chorionic gonadotropin binding and signal transduction. 1 Publication
    VAR_062337
    Natural varianti284 – 2841N → S.1 Publication
    VAR_003550
    Natural varianti291 – 2911N → S.
    Corresponds to variant rs12470652 [ dbSNP | Ensembl ].
    VAR_055922
    Natural varianti306 – 3061S → N.1 Publication
    VAR_003551
    Natural varianti312 – 3121N → S.2 Publications
    Corresponds to variant rs2293275 [ dbSNP | Ensembl ].
    VAR_060737
    Natural varianti343 – 3431C → 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. 1 Publication
    VAR_010155
    Natural varianti354 – 3541E → K in LHR; Leydig cell hypoplasia type 1. 1 Publication
    VAR_003552
    Natural varianti368 – 3681L → 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. 1 Publication
    VAR_062338
    Natural varianti373 – 3731A → V in FMPP. 1 Publication
    VAR_003553
    Natural varianti398 – 3981M → T in FMPP. 1 Publication
    VAR_003554
    Natural varianti457 – 4571L → R in FMPP. 1 Publication
    VAR_010156
    Natural varianti502 – 5021L → P in LHR; Leydig cell hypoplasia type 1; shows reduced cAMP production and ligand binding; receptor trafficking is not affected by the mutation. 1 Publication
    VAR_062339
    Natural varianti542 – 5421I → L in FMPP.
    VAR_010157
    Natural varianti543 – 5431C → 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. 1 Publication
    VAR_010158
    Natural varianti564 – 5641D → G in FMPP. 1 Publication
    VAR_010159
    Natural varianti564 – 5641D → N in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035764
    Natural varianti568 – 5681A → V in FMPP. 2 Publications
    VAR_003555
    Natural varianti571 – 5711M → I in FMPP. 1 Publication
    VAR_003556
    Natural varianti572 – 5721A → V in FMPP. 1 Publication
    VAR_003557
    Natural varianti575 – 5751I → L in FMPP.
    VAR_010160
    Natural varianti577 – 5771T → I in FMPP. 2 Publications
    VAR_003558
    Natural varianti578 – 5781D → E in FMPP.
    VAR_010161
    Natural varianti578 – 5781D → G in FMPP. 2 Publications
    VAR_003559
    Natural varianti578 – 5781D → H in Leydig cell tumor; somatic mutation; causes receptor activation and precocious puberty. 1 Publication
    VAR_010162
    Natural varianti578 – 5781D → Y in FMPP.
    VAR_010163
    Natural varianti581 – 5811C → R in FMPP.
    VAR_010164
    Natural varianti593 – 5931A → P in LHR; Leydig cell hypoplasia type 1; abolishes signal transduction. 1 Publication
    VAR_003560
    Natural varianti608 – 6092Missing in LHR; Leydig cell hypoplasia type 1. 1 Publication
    VAR_003561
    Natural varianti616 – 6161S → Y in LHR; Leydig cell hypoplasia type 1; micropenis. 1 Publication
    VAR_003562
    Natural varianti625 – 6251I → K in LHR; Leydig cell hypoplasia type 2. 1 Publication
    VAR_003563

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei227 – 28963Missing in isoform Short. CuratedVSP_001962Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M63108 mRNA. Translation: AAA59515.1.
    S57793 mRNA. Translation: AAB19917.2.
    M73746 mRNA. Translation: AAA70231.1.
    X84753
    , X84754, X84755, X84756, X84757, X84758, X84759, X84760, X84761, X84762, X84763 Genomic DNA. Translation: CAA59234.1.
    AC073082 Genomic DNA. No translation available.
    AC087816 Genomic DNA. No translation available.
    AF082076 Genomic DNA. Translation: AAC98291.1.
    AF024642 Genomic DNA. Translation: AAB88417.1.
    CCDSiCCDS1842.1. [P22888-1]
    PIRiA36243. QRHUUT.
    RefSeqiNP_000224.2. NM_000233.3. [P22888-1]
    UniGeneiHs.468490.

    Genome annotation databases

    EnsembliENST00000294954; ENSP00000294954; ENSG00000138039. [P22888-1]
    GeneIDi3973.
    KEGGihsa:3973.
    UCSCiuc002rwu.4. human. [P22888-1]

    Polymorphism databases

    DMDMi281185513.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    GRIS

    Glycoprotein-hormone Receptors Information System

    Atlas of Genetics and Cytogenetics in Oncology and Haematology
    Sequence-structure-function-analysis of glycoprotein hormone receptors

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M63108 mRNA. Translation: AAA59515.1 .
    S57793 mRNA. Translation: AAB19917.2 .
    M73746 mRNA. Translation: AAA70231.1 .
    X84753
    , X84754 , X84755 , X84756 , X84757 , X84758 , X84759 , X84760 , X84761 , X84762 , X84763 Genomic DNA. Translation: CAA59234.1 .
    AC073082 Genomic DNA. No translation available.
    AC087816 Genomic DNA. No translation available.
    AF082076 Genomic DNA. Translation: AAC98291.1 .
    AF024642 Genomic DNA. Translation: AAB88417.1 .
    CCDSi CCDS1842.1. [P22888-1 ]
    PIRi A36243. QRHUUT.
    RefSeqi NP_000224.2. NM_000233.3. [P22888-1 ]
    UniGenei Hs.468490.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1LUT model - A 51-232 [» ]
    1XUL model - C 51-232 [» ]
    ProteinModelPortali P22888.
    SMRi P22888. Positions 7-645.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110161. 4 interactions.
    STRINGi 9606.ENSP00000294954.

    Chemistry

    ChEMBLi CHEMBL1854.
    DrugBanki DB00050. Cetrorelix.
    DB00097. Choriogonadotropin alfa.
    DB00014. Goserelin.
    DB00044. Lutropin alfa.
    DB00032. Menotropins.
    GuidetoPHARMACOLOGYi 254.

    Protein family/group databases

    GPCRDBi Search...

    PTM databases

    PhosphoSitei P22888.

    Polymorphism databases

    DMDMi 281185513.

    Proteomic databases

    PaxDbi P22888.
    PRIDEi P22888.

    Protocols and materials databases

    DNASUi 3973.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000294954 ; ENSP00000294954 ; ENSG00000138039 . [P22888-1 ]
    GeneIDi 3973.
    KEGGi hsa:3973.
    UCSCi uc002rwu.4. human. [P22888-1 ]

    Organism-specific databases

    CTDi 3973.
    GeneCardsi GC02M048825.
    HGNCi HGNC:6585. LHCGR.
    HPAi CAB009814.
    MIMi 152790. gene+phenotype.
    176410. phenotype.
    238320. phenotype.
    neXtProti NX_P22888.
    Orphaneti 3000. Familial male-limited precocious puberty.
    96265. Leydig cell hypoplasia due to complete LH resistance.
    96266. Leydig cell hypoplasia due to partial LH resistance.
    619. Primary ovarian failure.
    PharmGKBi PA30357.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG285844.
    HOGENOMi HOG000045902.
    HOVERGENi HBG003521.
    InParanoidi P22888.
    KOi K04248.
    OMAi IYFAVQN.
    OrthoDBi EOG73BVCG.
    PhylomeDBi P22888.
    TreeFami TF316814.

    Enzyme and pathway databases

    Reactomei REACT_16942. Hormone ligand-binding receptors.
    REACT_19327. G alpha (s) signalling events.
    SignaLinki P22888.

    Miscellaneous databases

    GeneWikii Luteinizing_hormone/choriogonadotropin_receptor.
    GenomeRNAii 3973.
    NextBioi 15574.
    PROi P22888.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P22888.
    Bgeei P22888.
    CleanExi HS_LHCGR.
    Genevestigatori P22888.

    Family and domain databases

    Gene3Di 1.20.1070.10. 1 hit.
    InterProi IPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    IPR002131. Gphrmn_rcpt_fam.
    IPR000372. LRR-contain_N.
    IPR026906. LRR_5.
    IPR002273. LSH_rcpt.
    [Graphical view ]
    PANTHERi PTHR24372. PTHR24372. 1 hit.
    PTHR24372:SF1. PTHR24372:SF1. 1 hit.
    Pfami PF00001. 7tm_1. 1 hit.
    PF13306. LRR_5. 2 hits.
    [Graphical view ]
    PRINTSi PR00373. GLYCHORMONER.
    PR00237. GPCRRHODOPSN.
    PR01144. LSHRECEPTOR.
    SMARTi SM00013. LRRNT. 1 hit.
    [Graphical view ]
    PROSITEi PS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
    PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT SER-312.
      Tissue: Ovary.
    2. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Ovary.
    3. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Thyroid.
    4. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS LEU-GLN-18 INS AND SER-312.
    5. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-54, VARIANT LEU-GLN-18 INS.
    7. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: PALMITOYLATION AT CYS-643 AND CYS-644, MUTAGENESIS OF CYS-643 AND CYS-644.
    8. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: 3D-STRUCTURE MODELING OF 51-232.
    9. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS FMPP PRO-368 AND VAL-568, CHARACTERIZATION OF VARIANT FMPP PRO-368.
    10. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FMPP GLY-564.
    11. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LHR SER-343 AND ARG-543, CHARACTERIZATION OF VARIANTS LHR SER-343 AND ARG-543.
    12. Cited for: ASSOCIATION OF VARIANT LEU-GLN-18 INS WITH AGE OF BREAST CANCER ONSET.
    13. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FMPP GLY-578.
    14. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS FMPP ILE-571 AND GLY-578.
    15. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FMPP ILE-577.
    16. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FMPP VAL-572.
    17. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FMPP VAL-568.
    18. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LHR PRO-593.
    19. "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.
      Hum. Mutat. 7:164-166(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FMPP ILE-577.
    20. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FMPP THR-398.
    21. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LHR TYR-616.
    22. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LHR ARG-131.
    23. "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.
      Hum. Mutat. 11:333-334(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LEU-GLN-18 INS; SER-284 AND ASN-306.
    24. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FMPP VAL-373.
    25. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LHR LYS-354.
    26. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FMPP ARG-457.
    27. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LEU-GLN-18 INS.
    28. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LHR 608-LEU-VAL-609 DEL.
    29. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LHR LYS-625.
    30. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LEYDIG CELL TUMOR HIS-578.
    31. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LHR PRO-502, CHARACTERIZATION OF VARIANT LCH PRO-502.
    32. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LHR PHE-144, CHARACTERIZATION OF VARIANT LCH PHE-144.
    33. Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-564.
    34. "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) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LHR THR-152, CHARACTERIZATION OF VARIANT LHR THR-152.

    Entry informationi

    Entry nameiLSHR_HUMAN
    AccessioniPrimary (citable) accession number: P22888
    Secondary accession number(s): Q14751, Q15996, Q9UEW9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 1, 1991
    Last sequence update: December 15, 2009
    Last modified: October 1, 2014
    This is version 173 of the entry and version 4 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. 7-transmembrane G-linked receptors
      List of 7-transmembrane G-linked receptor entries
    2. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3