Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Lutropin-choriogonadotropic hormone receptor

Gene

LHCGR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

G-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

HGNCiHGNC:6585. LHCGR.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini27 – 363337ExtracellularSequence analysisAdd
BLAST
Transmembranei364 – 38522Helical; Name=1Sequence analysisAdd
BLAST
Topological domaini386 – 39510CytoplasmicSequence analysis
Transmembranei396 – 41621Helical; Name=2Sequence analysisAdd
BLAST
Topological domaini417 – 43923ExtracellularSequence analysisAdd
BLAST
Transmembranei440 – 46223Helical; Name=3Sequence analysisAdd
BLAST
Topological domaini463 – 48220CytoplasmicSequence analysisAdd
BLAST
Transmembranei483 – 50523Helical; Name=4Sequence analysisAdd
BLAST
Topological domaini506 – 52520ExtracellularSequence analysisAdd
BLAST
Transmembranei526 – 54924Helical; Name=5Sequence analysisAdd
BLAST
Topological domaini550 – 57021CytoplasmicSequence analysisAdd
BLAST
Transmembranei571 – 59424Helical; Name=6Sequence analysisAdd
BLAST
Topological domaini595 – 60511ExtracellularSequence analysisAdd
BLAST
Transmembranei606 – 62722Helical; Name=7Sequence analysisAdd
BLAST
Topological domaini628 – 69972CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • endosome Source: ProtInc
  • integral component of plasma membrane Source: BHF-UCL
  • plasma membrane Source: Reactome
Complete GO annotation...

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)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
Corresponds to variant rs121912533 [ dbSNP | Ensembl ].
VAR_062338
Natural varianti373 – 3731A → V in FMPP. 1 Publication
Corresponds to variant rs121912528 [ dbSNP | Ensembl ].
VAR_003553
Natural varianti398 – 3981M → T in FMPP. 1 Publication
Corresponds to variant rs121912526 [ dbSNP | Ensembl ].
VAR_003554
Natural varianti457 – 4571L → R in FMPP. 1 Publication
Corresponds to variant rs121912535 [ dbSNP | Ensembl ].
VAR_010156
Natural varianti542 – 5421I → L in FMPP.
Corresponds to variant rs121912531 [ dbSNP | Ensembl ].
VAR_010157
Natural varianti564 – 5641D → G in FMPP. 1 Publication
Corresponds to variant rs121912540 [ dbSNP | Ensembl ].
VAR_010159
Natural varianti568 – 5681A → V in FMPP. 2 Publications
Corresponds to variant rs121912534 [ dbSNP | Ensembl ].
VAR_003555
Natural varianti571 – 5711M → I in FMPP. 1 Publication
Corresponds to variant rs121912519 [ dbSNP | Ensembl ].
VAR_003556
Natural varianti572 – 5721A → V in FMPP. 1 Publication
Corresponds to variant rs121912522 [ dbSNP | Ensembl ].
VAR_003557
Natural varianti575 – 5751I → L in FMPP.
VAR_010160
Natural varianti577 – 5771T → I in FMPP. 2 Publications
Corresponds to variant rs121912521 [ dbSNP | Ensembl ].
VAR_003558
Natural varianti578 – 5781D → E in FMPP.
VAR_010161
Natural varianti578 – 5781D → G in FMPP. 2 Publications
Corresponds to variant rs121912518 [ dbSNP | Ensembl ].
VAR_003559
Natural varianti578 – 5781D → Y in FMPP.
Corresponds to variant rs121912532 [ dbSNP | Ensembl ].
VAR_010163
Natural varianti581 – 5811C → R in FMPP.
VAR_010164
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti131 – 1311C → R in LHR; Leydig cell hypoplasia type 2. 1 Publication
Corresponds to variant rs121912527 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121912536 [ dbSNP | Ensembl ].
VAR_010155
Natural varianti354 – 3541E → K in LHR; Leydig cell hypoplasia type 1. 1 Publication
Corresponds to variant rs121912529 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121912538 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121912537 [ dbSNP | Ensembl ].
VAR_010158
Natural varianti593 – 5931A → P in LHR; Leydig cell hypoplasia type 1; abolishes signal transduction. 1 Publication
Corresponds to variant rs121912520 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121912525 [ dbSNP | Ensembl ].
VAR_003562
Natural varianti625 – 6251I → K in LHR; Leydig cell hypoplasia type 2. 1 Publication
Corresponds to variant rs121912530 [ dbSNP | Ensembl ].
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

MalaCardsiLHCGR.
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.

Chemistry

ChEMBLiCHEMBL1854.
DrugBankiDB06719. Buserelin.
DB00050. Cetrorelix.
DB00097. Choriogonadotropin alfa.
DB00014. Goserelin.
DB00044. Lutropin alfa.
DB00032. Menotropins.
GuidetoPHARMACOLOGYi254.

Polymorphism and mutation databases

BioMutaiLHCGR.
DMDMi281185513.

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.
PeptideAtlasiP22888.
PRIDEiP22888.

PTM databases

iPTMnetiP22888.
PhosphoSiteiP22888.
SwissPalmiP22888.

Expressioni

Tissue specificityi

Gonadal and thyroid cells.

Gene expression databases

BgeeiENSG00000138039.
CleanExiHS_LHCGR.
ExpressionAtlasiP22888. baseline and differential.
GenevisibleiP22888. HS.

Organism-specific databases

HPAiCAB009814.

Interactioni

Protein-protein interaction databases

BioGridi110161. 4 interactions.
STRINGi9606.ENSP00000294954.

Chemistry

BindingDBiP22888.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1LUTmodel-A51-232[»]
1XULmodel-C51-232[»]
ProteinModelPortaliP22888.
SMRiP22888. Positions 54-645.
ModBaseiSearch...
MobiDBiSearch...

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

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

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR002131. Gphrmn_rcpt_fam.
IPR032675. L_dom-like.
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.
SUPFAMiSSF52058. SSF52058. 1 hit.
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. AlignAdd to basket

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

        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

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
Corresponds to variant rs121912527 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121912536 [ dbSNP | Ensembl ].
VAR_010155
Natural varianti354 – 3541E → K in LHR; Leydig cell hypoplasia type 1. 1 Publication
Corresponds to variant rs121912529 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121912533 [ dbSNP | Ensembl ].
VAR_062338
Natural varianti373 – 3731A → V in FMPP. 1 Publication
Corresponds to variant rs121912528 [ dbSNP | Ensembl ].
VAR_003553
Natural varianti398 – 3981M → T in FMPP. 1 Publication
Corresponds to variant rs121912526 [ dbSNP | Ensembl ].
VAR_003554
Natural varianti457 – 4571L → R in FMPP. 1 Publication
Corresponds to variant rs121912535 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121912538 [ dbSNP | Ensembl ].
VAR_062339
Natural varianti542 – 5421I → L in FMPP.
Corresponds to variant rs121912531 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121912537 [ dbSNP | Ensembl ].
VAR_010158
Natural varianti564 – 5641D → G in FMPP. 1 Publication
Corresponds to variant rs121912540 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121912534 [ dbSNP | Ensembl ].
VAR_003555
Natural varianti571 – 5711M → I in FMPP. 1 Publication
Corresponds to variant rs121912519 [ dbSNP | Ensembl ].
VAR_003556
Natural varianti572 – 5721A → V in FMPP. 1 Publication
Corresponds to variant rs121912522 [ dbSNP | Ensembl ].
VAR_003557
Natural varianti575 – 5751I → L in FMPP.
VAR_010160
Natural varianti577 – 5771T → I in FMPP. 2 Publications
Corresponds to variant rs121912521 [ dbSNP | Ensembl ].
VAR_003558
Natural varianti578 – 5781D → E in FMPP.
VAR_010161
Natural varianti578 – 5781D → G in FMPP. 2 Publications
Corresponds to variant rs121912518 [ dbSNP | Ensembl ].
VAR_003559
Natural varianti578 – 5781D → H in Leydig cell tumor; somatic mutation; causes receptor activation and precocious puberty. 1 Publication
Corresponds to variant rs121912532 [ dbSNP | Ensembl ].
VAR_010162
Natural varianti578 – 5781D → Y in FMPP.
Corresponds to variant rs121912532 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121912520 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121912525 [ dbSNP | Ensembl ].
VAR_003562
Natural varianti625 – 6251I → K in LHR; Leydig cell hypoplasia type 2. 1 Publication
Corresponds to variant rs121912530 [ dbSNP | Ensembl ].
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:
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

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
EntryMethodResolution (Å)ChainPositionsPDBsum
1LUTmodel-A51-232[»]
1XULmodel-C51-232[»]
ProteinModelPortaliP22888.
SMRiP22888. Positions 54-645.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110161. 4 interactions.
STRINGi9606.ENSP00000294954.

Chemistry

BindingDBiP22888.
ChEMBLiCHEMBL1854.
DrugBankiDB06719. Buserelin.
DB00050. Cetrorelix.
DB00097. Choriogonadotropin alfa.
DB00014. Goserelin.
DB00044. Lutropin alfa.
DB00032. Menotropins.
GuidetoPHARMACOLOGYi254.

Protein family/group databases

GPCRDBiSearch...

PTM databases

iPTMnetiP22888.
PhosphoSiteiP22888.
SwissPalmiP22888.

Polymorphism and mutation databases

BioMutaiLHCGR.
DMDMi281185513.

Proteomic databases

PaxDbiP22888.
PeptideAtlasiP22888.
PRIDEiP22888.

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.
GeneCardsiLHCGR.
HGNCiHGNC:6585. LHCGR.
HPAiCAB009814.
MalaCardsiLHCGR.
MIMi152790. gene+phenotype.
176410. phenotype.
238320. phenotype.
neXtProtiNX_P22888.
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.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2087. Eukaryota.
ENOG410XR1T. LUCA.
GeneTreeiENSGT00760000119088.
HOGENOMiHOG000045902.
HOVERGENiHBG003521.
InParanoidiP22888.
KOiK04248.
OMAiHAILIML.
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.
PROiP22888.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138039.
CleanExiHS_LHCGR.
ExpressionAtlasiP22888. baseline and differential.
GenevisibleiP22888. HS.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR002131. Gphrmn_rcpt_fam.
IPR032675. L_dom-like.
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.
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: September 7, 2016
This is version 190 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.