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Protein

Lutropin-choriogonadotropic hormone receptor

Gene

LHCGR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Receptor for lutropin-choriogonadotropic hormone (PubMed:11847099). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11847099).1 Publication

GO - Molecular functioni

  • choriogonadotropin hormone binding Source: BHF-UCL
  • choriogonadotropin hormone receptor activity Source: BHF-UCL
  • G protein-coupled peptide receptor activity Source: GO_Central
  • luteinizing hormone receptor activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionG-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

ReactomeiR-HSA-375281 Hormone ligand-binding receptors
R-HSA-418555 G alpha (s) signalling events
SignaLinkiP22888
SIGNORiP22888

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
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000138039.14
HGNCiHGNC:6585 LHCGR
MIMi152790 gene+phenotype
neXtProtiNX_P22888

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini27 – 363ExtracellularSequence analysisAdd BLAST337
Transmembranei364 – 385Helical; Name=1Sequence analysisAdd BLAST22
Topological domaini386 – 395CytoplasmicSequence analysis10
Transmembranei396 – 416Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini417 – 439ExtracellularSequence analysisAdd BLAST23
Transmembranei440 – 462Helical; Name=3Sequence analysisAdd BLAST23
Topological domaini463 – 482CytoplasmicSequence analysisAdd BLAST20
Transmembranei483 – 505Helical; Name=4Sequence analysisAdd BLAST23
Topological domaini506 – 525ExtracellularSequence analysisAdd BLAST20
Transmembranei526 – 549Helical; Name=5Sequence analysisAdd BLAST24
Topological domaini550 – 570CytoplasmicSequence analysisAdd BLAST21
Transmembranei571 – 594Helical; Name=6Sequence analysisAdd BLAST24
Topological domaini595 – 605ExtracellularSequence analysisAdd BLAST11
Transmembranei606 – 627Helical; Name=7Sequence analysisAdd BLAST22
Topological domaini628 – 699CytoplasmicSequence analysisAdd BLAST72

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Familial male precocious puberty (FMPP)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionIn FMPP the receptor is constitutively activated.
See also OMIM:176410
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062338368L → 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 PublicationCorresponds to variant dbSNP:rs121912533EnsemblClinVar.1
Natural variantiVAR_003553373A → V in FMPP. 1 PublicationCorresponds to variant dbSNP:rs121912528EnsemblClinVar.1
Natural variantiVAR_003554398M → T in FMPP. 1 PublicationCorresponds to variant dbSNP:rs121912526EnsemblClinVar.1
Natural variantiVAR_010156457L → R in FMPP. 1 PublicationCorresponds to variant dbSNP:rs121912535EnsemblClinVar.1
Natural variantiVAR_010157542I → L in FMPP. Corresponds to variant dbSNP:rs121912531EnsemblClinVar.1
Natural variantiVAR_010159564D → G in FMPP. 1 PublicationCorresponds to variant dbSNP:rs121912540EnsemblClinVar.1
Natural variantiVAR_003555568A → V in FMPP. 2 PublicationsCorresponds to variant dbSNP:rs121912534EnsemblClinVar.1
Natural variantiVAR_003556571M → I in FMPP. 1 PublicationCorresponds to variant dbSNP:rs121912519EnsemblClinVar.1
Natural variantiVAR_003557572A → V in FMPP. 1 PublicationCorresponds to variant dbSNP:rs121912522EnsemblClinVar.1
Natural variantiVAR_010160575I → L in FMPP. 1
Natural variantiVAR_003558577T → I in FMPP. 2 PublicationsCorresponds to variant dbSNP:rs121912521EnsemblClinVar.1
Natural variantiVAR_010161578D → E in FMPP. 1
Natural variantiVAR_003559578D → G in FMPP. 2 PublicationsCorresponds to variant dbSNP:rs121912518EnsemblClinVar.1
Natural variantiVAR_010163578D → Y in FMPP. Corresponds to variant dbSNP:rs121912532EnsemblClinVar.1
Natural variantiVAR_010164581C → R in FMPP. 1
Luteinizing hormone resistance (LHR)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:238320
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010154131C → R in LHR; Leydig cell hypoplasia type 2. 1 PublicationCorresponds to variant dbSNP:rs121912527EnsemblClinVar.1
Natural variantiVAR_062336144V → 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 PublicationCorresponds to variant dbSNP:rs121912539EnsemblClinVar.1
Natural variantiVAR_062337152I → T in LHR; reveals a marked impairment of human chorionic gonadotropin binding and signal transduction. 1 Publication1
Natural variantiVAR_010155343C → 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 PublicationCorresponds to variant dbSNP:rs121912536EnsemblClinVar.1
Natural variantiVAR_003552354E → K in LHR; Leydig cell hypoplasia type 1. 1 PublicationCorresponds to variant dbSNP:rs121912529EnsemblClinVar.1
Natural variantiVAR_062339502L → P in LHR; Leydig cell hypoplasia type 1; shows reduced cAMP production and ligand binding; receptor trafficking is not affected by the mutation. 1 PublicationCorresponds to variant dbSNP:rs121912538EnsemblClinVar.1
Natural variantiVAR_010158543C → 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 PublicationCorresponds to variant dbSNP:rs121912537EnsemblClinVar.1
Natural variantiVAR_003560593A → P in LHR; Leydig cell hypoplasia type 1; abolishes signal transduction. 1 PublicationCorresponds to variant dbSNP:rs121912520EnsemblClinVar.1
Natural variantiVAR_003561608 – 609Missing in LHR; Leydig cell hypoplasia type 1. 1 Publication2
Natural variantiVAR_003562616S → Y in LHR; Leydig cell hypoplasia type 1; micropenis. 1 PublicationCorresponds to variant dbSNP:rs121912525EnsemblClinVar.1
Natural variantiVAR_003563625I → K in LHR; Leydig cell hypoplasia type 2. 1 PublicationCorresponds to variant dbSNP:rs121912530EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi331Y → F: Reduces intracellular cAMP accumulation. 1 Publication1
Mutagenesisi333Y → F: No change in intracellular cAMP accumulation. 1 Publication1
Mutagenesisi643C → G: Loss of palmitoylation. 1 Publication1
Mutagenesisi644C → G: Loss of palmitoylation. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3973
MalaCardsiLHCGR
MIMi152790 gene+phenotype
176410 phenotype
238320 phenotype
OpenTargetsiENSG00000138039
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 NON RARE IN EUROPE: Primary ovarian failure
PharmGKBiPA30357

Chemistry databases

ChEMBLiCHEMBL1854
DrugBankiDB06719 Buserelin
DB00050 Cetrorelix
DB09126 Chorionic Gonadotropin (Human)
DB00097 Chorionic Gonadotropin (Recombinant)
DB00014 Goserelin
DB00044 Lutropin alfa
DB00032 Menotropins
GuidetoPHARMACOLOGYi254

Polymorphism and mutation databases

BioMutaiLHCGR
DMDMi281185513

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Sequence analysisAdd BLAST26
ChainiPRO_000001278027 – 699Lutropin-choriogonadotropic hormone receptorAdd BLAST673

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi99N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi174N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi195N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi291N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi299N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi313N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei331Sulfotyrosine1 Publication1
Disulfide bondi439 ↔ 514PROSITE-ProRule annotation
Lipidationi643S-palmitoyl cysteine1 Publication1
Lipidationi644S-palmitoyl cysteine1 Publication1

Post-translational modificationi

Sulfated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Lipoprotein, Palmitate, Sulfation

Proteomic databases

PaxDbiP22888
PeptideAtlasiP22888
PRIDEiP22888
ProteomicsDBi54043
54044 [P22888-2]

PTM databases

iPTMnetiP22888
PhosphoSitePlusiP22888
SwissPalmiP22888

Expressioni

Tissue specificityi

Gonadal and thyroid cells.

Gene expression databases

BgeeiENSG00000138039 Expressed in 67 organ(s), highest expression level in lower esophagus muscularis layer
CleanExiHS_LHCGR
ExpressionAtlasiP22888 baseline and differential
GenevisibleiP22888 HS

Organism-specific databases

HPAiCAB009814

Interactioni

Protein-protein interaction databases

BioGridi110161, 4 interactors
CORUMiP22888
MINTiP22888
STRINGi9606.ENSP00000294954

Chemistry databases

BindingDBiP22888

Structurei

3D structure databases

ProteinModelPortaliP22888
SMRiP22888
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini27 – 66LRRNTAdd BLAST40
Repeati96 – 115LRR 1Add BLAST20
Repeati124 – 145LRR 2Add BLAST22
Repeati149 – 171LRR 3Add BLAST23
Repeati175 – 196LRR 4Add BLAST22
Repeati198 – 220LRR 5Add BLAST23
Repeati223 – 244LRR 6Add BLAST22

Sequence similaritiesi

Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily.PROSITE-ProRule annotation

Keywords - Domaini

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

Phylogenomic databases

eggNOGiKOG2087 Eukaryota
ENOG410XR1T LUCA
GeneTreeiENSGT00760000119088
HOGENOMiHOG000045902
HOVERGENiHBG003521
InParanoidiP22888
KOiK04248
OMAiKTLRCAP
OrthoDBiEOG091G02BV
PhylomeDBiP22888
TreeFamiTF316814

Family and domain databases

Gene3Di3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR000276 GPCR_Rhodpsn
IPR017452 GPCR_Rhodpsn_7TM
IPR002131 Gphrmn_rcpt_fam
IPR026906 LRR_5
IPR032675 LRR_dom_sf
IPR002273 LSH_rcpt
IPR034298 TSHR/LHCGR/FSHR
PANTHERiPTHR24372 PTHR24372, 1 hit
PfamiView protein in Pfam
PF00001 7tm_1, 1 hit
PF13306 LRR_5, 2 hits
PRINTSiPR00373 GLYCHORMONER
PR00237 GPCRRHODOPSN
PR01144 LSHRECEPTOR
PROSITEiView protein in PROSITE
PS00237 G_PROTEIN_RECEP_F1_1, 1 hit
PS50262 G_PROTEIN_RECEP_F1_2, 1 hit

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. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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
        10         20         30         40         50
MKQRFSALQL LKLLLLLQPP LPRALREALC PEPCNCVPDG ALRCPGPTAG
60 70 80 90 100
LTRLSLAYLP VKVIPSQAFR GLNEVIKIEI SQIDSLERIE ANAFDNLLNL
110 120 130 140 150
SEILIQNTKN LRYIEPGAFI NLPRLKYLSI CNTGIRKFPD VTKVFSSESN
160 170 180 190 200
FILEICDNLH ITTIPGNAFQ GMNNESVTLK LYGNGFEEVQ SHAFNGTTLT
210 220 230 240 250
SLELKENVHL EKMHNGAFRG ATGPKTLDIS STKLQALPSY GLESIQRLIA
260 270 280 290 300
TSSYSLKKLP SRETFVNLLE ATLTYPSHCC AFRNLPTKEQ NFSHSISENF
310 320 330 340 350
SKQCESTVRK VNNKTLYSSM LAESELSGWD YEYGFCLPKT PRCAPEPDAF
360 370 380 390 400
NPCEDIMGYD FLRVLIWLIN ILAIMGNMTV LFVLLTSRYK LTVPRFLMCN
410 420 430 440 450
LSFADFCMGL YLLLIASVDS QTKGQYYNHA IDWQTGSGCS TAGFFTVFAS
460 470 480 490 500
ELSVYTLTVI TLERWHTITY AIHLDQKLRL RHAILIMLGG WLFSSLIAML
510 520 530 540 550
PLVGVSNYMK VSICFPMDVE TTLSQVYILT ILILNVVAFF IICACYIKIY
560 570 580 590 600
FAVRNPELMA TNKDTKIAKK MAILIFTDFT CMAPISFFAI SAAFKVPLIT
610 620 630 640 650
VTNSKVLLVL FYPINSCANP FLYAIFTKTF QRDFFLLLSK FGCCKRRAEL
660 670 680 690
YRRKDFSAYT SNCKNGFTGS NKPSQSTLKL STLHCQGTAL LDKTRYTEC
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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7ENI1E7ENI1_HUMAN
Lutropin-choriogonadotropic hormone...
LHCGR
672Annotation score:
E7ESK4E7ESK4_HUMAN
Lutropin-choriogonadotropic hormone...
LHCGR
329Annotation score:
E7EQB5E7EQB5_HUMAN
Lutropin-choriogonadotropic hormone...
LHCGR
325Annotation score:
H7C226H7C226_HUMAN
Lutropin-choriogonadotropic hormone...
LHCGR
175Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti7A → P in AAA70231 (PubMed:2293030).Curated1
Sequence conflicti19P → A in AAA70231 (PubMed:2293030).Curated1
Sequence conflicti27 – 28EA → R in AAA70231 (PubMed:2293030).Curated2
Sequence conflicti44 – 51CPGPTAGL → APAPRPS in AAA70231 (PubMed:2293030).Curated8
Sequence conflicti68A → S in AAA70231 (PubMed:2293030).Curated1
Sequence conflicti124R → G in AAA59515 (PubMed:2244890).Curated1
Sequence conflicti124R → G in CAA59234 (PubMed:7556872).Curated1
Sequence conflicti262 – 263RE → KQ in AAA70231 (PubMed:2293030).Curated2
Sequence conflicti270E → R in AAA70231 (PubMed:2293030).Curated1
Sequence conflicti274T → H in AAA70231 (PubMed:2293030).Curated1
Sequence conflicti290Q → L in AAA70231 (PubMed:2293030).Curated1
Sequence conflicti311 – 323Missing in AAA70231 (PubMed:2293030).CuratedAdd BLAST13
Sequence conflicti448F → L in AAA70231 (PubMed:2293030).Curated1
Sequence conflicti540F → L in AAA70231 (PubMed:2293030).Curated1
Sequence conflicti649E → DP in AAA70231 (PubMed:2293030).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00354918Q → QLQ May be associated with earlier age of onset of breast cancer and poor prognosis. 2 Publications1
Natural variantiVAR_010154131C → R in LHR; Leydig cell hypoplasia type 2. 1 PublicationCorresponds to variant dbSNP:rs121912527EnsemblClinVar.1
Natural variantiVAR_062336144V → 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 PublicationCorresponds to variant dbSNP:rs121912539EnsemblClinVar.1
Natural variantiVAR_062337152I → T in LHR; reveals a marked impairment of human chorionic gonadotropin binding and signal transduction. 1 Publication1
Natural variantiVAR_003550284N → S1 Publication1
Natural variantiVAR_055922291N → S. Corresponds to variant dbSNP:rs12470652EnsemblClinVar.1
Natural variantiVAR_003551306S → N1 Publication1
Natural variantiVAR_060737312N → S2 PublicationsCorresponds to variant dbSNP:rs2293275EnsemblClinVar.1
Natural variantiVAR_010155343C → 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 PublicationCorresponds to variant dbSNP:rs121912536EnsemblClinVar.1
Natural variantiVAR_003552354E → K in LHR; Leydig cell hypoplasia type 1. 1 PublicationCorresponds to variant dbSNP:rs121912529EnsemblClinVar.1
Natural variantiVAR_062338368L → 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 PublicationCorresponds to variant dbSNP:rs121912533EnsemblClinVar.1
Natural variantiVAR_003553373A → V in FMPP. 1 PublicationCorresponds to variant dbSNP:rs121912528EnsemblClinVar.1
Natural variantiVAR_003554398M → T in FMPP. 1 PublicationCorresponds to variant dbSNP:rs121912526EnsemblClinVar.1
Natural variantiVAR_010156457L → R in FMPP. 1 PublicationCorresponds to variant dbSNP:rs121912535EnsemblClinVar.1
Natural variantiVAR_062339502L → P in LHR; Leydig cell hypoplasia type 1; shows reduced cAMP production and ligand binding; receptor trafficking is not affected by the mutation. 1 PublicationCorresponds to variant dbSNP:rs121912538EnsemblClinVar.1
Natural variantiVAR_010157542I → L in FMPP. Corresponds to variant dbSNP:rs121912531EnsemblClinVar.1
Natural variantiVAR_010158543C → 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 PublicationCorresponds to variant dbSNP:rs121912537EnsemblClinVar.1
Natural variantiVAR_010159564D → G in FMPP. 1 PublicationCorresponds to variant dbSNP:rs121912540EnsemblClinVar.1
Natural variantiVAR_035764564D → N in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_003555568A → V in FMPP. 2 PublicationsCorresponds to variant dbSNP:rs121912534EnsemblClinVar.1
Natural variantiVAR_003556571M → I in FMPP. 1 PublicationCorresponds to variant dbSNP:rs121912519EnsemblClinVar.1
Natural variantiVAR_003557572A → V in FMPP. 1 PublicationCorresponds to variant dbSNP:rs121912522EnsemblClinVar.1
Natural variantiVAR_010160575I → L in FMPP. 1
Natural variantiVAR_003558577T → I in FMPP. 2 PublicationsCorresponds to variant dbSNP:rs121912521EnsemblClinVar.1
Natural variantiVAR_010161578D → E in FMPP. 1
Natural variantiVAR_003559578D → G in FMPP. 2 PublicationsCorresponds to variant dbSNP:rs121912518EnsemblClinVar.1
Natural variantiVAR_010162578D → H in Leydig cell tumor; somatic mutation; causes receptor activation and precocious puberty. 1 PublicationCorresponds to variant dbSNP:rs121912532EnsemblClinVar.1
Natural variantiVAR_010163578D → Y in FMPP. Corresponds to variant dbSNP:rs121912532EnsemblClinVar.1
Natural variantiVAR_010164581C → R in FMPP. 1
Natural variantiVAR_003560593A → P in LHR; Leydig cell hypoplasia type 1; abolishes signal transduction. 1 PublicationCorresponds to variant dbSNP:rs121912520EnsemblClinVar.1
Natural variantiVAR_003561608 – 609Missing in LHR; Leydig cell hypoplasia type 1. 1 Publication2
Natural variantiVAR_003562616S → Y in LHR; Leydig cell hypoplasia type 1; micropenis. 1 PublicationCorresponds to variant dbSNP:rs121912525EnsemblClinVar.1
Natural variantiVAR_003563625I → K in LHR; Leydig cell hypoplasia type 2. 1 PublicationCorresponds to variant dbSNP:rs121912530EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_001962227 – 289Missing in isoform Short. CuratedAdd BLAST63

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.5 human [P22888-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1LUTmodel-A51-232[»]
1XULmodel-C51-232[»]
ProteinModelPortaliP22888
SMRiP22888
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110161, 4 interactors
CORUMiP22888
MINTiP22888
STRINGi9606.ENSP00000294954

Chemistry databases

BindingDBiP22888
ChEMBLiCHEMBL1854
DrugBankiDB06719 Buserelin
DB00050 Cetrorelix
DB09126 Chorionic Gonadotropin (Human)
DB00097 Chorionic Gonadotropin (Recombinant)
DB00014 Goserelin
DB00044 Lutropin alfa
DB00032 Menotropins
GuidetoPHARMACOLOGYi254

Protein family/group databases

GPCRDBiSearch...

PTM databases

iPTMnetiP22888
PhosphoSitePlusiP22888
SwissPalmiP22888

Polymorphism and mutation databases

BioMutaiLHCGR
DMDMi281185513

Proteomic databases

PaxDbiP22888
PeptideAtlasiP22888
PRIDEiP22888
ProteomicsDBi54043
54044 [P22888-2]

Protocols and materials databases

DNASUi3973
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000294954; ENSP00000294954; ENSG00000138039 [P22888-1]
GeneIDi3973
KEGGihsa:3973
UCSCiuc002rwu.5 human [P22888-1]

Organism-specific databases

CTDi3973
DisGeNETi3973
EuPathDBiHostDB:ENSG00000138039.14
GeneCardsiLHCGR
HGNCiHGNC:6585 LHCGR
HPAiCAB009814
MalaCardsiLHCGR
MIMi152790 gene+phenotype
176410 phenotype
238320 phenotype
neXtProtiNX_P22888
OpenTargetsiENSG00000138039
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 NON RARE IN EUROPE: Primary ovarian failure
PharmGKBiPA30357
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2087 Eukaryota
ENOG410XR1T LUCA
GeneTreeiENSGT00760000119088
HOGENOMiHOG000045902
HOVERGENiHBG003521
InParanoidiP22888
KOiK04248
OMAiKTLRCAP
OrthoDBiEOG091G02BV
PhylomeDBiP22888
TreeFamiTF316814

Enzyme and pathway databases

ReactomeiR-HSA-375281 Hormone ligand-binding receptors
R-HSA-418555 G alpha (s) signalling events
SignaLinkiP22888
SIGNORiP22888

Miscellaneous databases

GeneWikiiLuteinizing_hormone/choriogonadotropin_receptor
GenomeRNAii3973
PROiPR:P22888
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138039 Expressed in 67 organ(s), highest expression level in lower esophagus muscularis layer
CleanExiHS_LHCGR
ExpressionAtlasiP22888 baseline and differential
GenevisibleiP22888 HS

Family and domain databases

Gene3Di3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR000276 GPCR_Rhodpsn
IPR017452 GPCR_Rhodpsn_7TM
IPR002131 Gphrmn_rcpt_fam
IPR026906 LRR_5
IPR032675 LRR_dom_sf
IPR002273 LSH_rcpt
IPR034298 TSHR/LHCGR/FSHR
PANTHERiPTHR24372 PTHR24372, 1 hit
PfamiView protein in Pfam
PF00001 7tm_1, 1 hit
PF13306 LRR_5, 2 hits
PRINTSiPR00373 GLYCHORMONER
PR00237 GPCRRHODOPSN
PR01144 LSHRECEPTOR
PROSITEiView protein in PROSITE
PS00237 G_PROTEIN_RECEP_F1_1, 1 hit
PS50262 G_PROTEIN_RECEP_F1_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiLSHR_HUMAN
AccessioniPrimary (citable) accession number: P22888
Secondary accession number(s): Q14751, Q15996, Q9UEW9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1991
Last sequence update: December 15, 2009
Last modified: November 7, 2018
This is version 206 of the entry and version 4 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
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Main funding by: National Institutes of Health

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