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Protein

Lutropin subunit beta

Gene

LHB

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

Functioni

Promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids.

GO - Molecular functioni

  • receptor binding Source: ProtInc

GO - Biological processi

  • cell-cell signaling Source: ProtInc
  • cellular protein metabolic process Source: Reactome
  • male gonad development Source: ProtInc
  • peptide hormone processing Source: Reactome
  • progesterone biosynthetic process Source: BHF-UCL
  • signal transduction Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Hormone

Enzyme and pathway databases

ReactomeiREACT_11047. Mineralocorticoid biosynthesis.
REACT_11059. Androgen biosynthesis.
REACT_15398. Glycoprotein hormones.
REACT_16942. Hormone ligand-binding receptors.
REACT_19327. G alpha (s) signalling events.

Names & Taxonomyi

Protein namesi
Recommended name:
Lutropin subunit beta
Short name:
Lutropin beta chain
Alternative name(s):
Luteinizing hormone subunit beta
Short name:
LH-B
Short name:
LSH-B
Short name:
LSH-beta
Gene namesi
Name:LHB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:6584. LHB.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • extracellular region Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Hypogonadotropic hypogonadism 23 without anosmia (HH23)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. HH23 male patients have normal sexual differentiation, reduced or absent Leydig cells, reduced or absent spermatogenesis, and absence of spontaneous puberty. Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea.

See also OMIM:228300
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti74 – 741Q → R in HH23; lack of receptor binding. 1 Publication
Corresponds to variant rs5030773 [ dbSNP | Ensembl ].
VAR_003189

Keywords - Diseasei

Disease mutation, Hypogonadotropic hypogonadism

Organism-specific databases

MIMi228300. phenotype.
Orphaneti325448. Leydig cell hypoplasia due to LHB deficiency.
PharmGKBiPA30356.

Polymorphism and mutation databases

BioMutaiLHB.
DMDMi1170834.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 20201 PublicationAdd
BLAST
Chaini21 – 141121Lutropin subunit betaPRO_0000011726Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi29 ↔ 77By similarity
Disulfide bondi43 ↔ 92By similarity
Disulfide bondi46 ↔ 130By similarity
Glycosylationi50 – 501N-linked (GlcNAc...)CAR_000045
Disulfide bondi54 ↔ 108By similarity
Disulfide bondi58 ↔ 110By similarity
Disulfide bondi113 ↔ 120By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP01229.
PRIDEiP01229.

PTM databases

UniCarbKBiP01229.

Expressioni

Tissue specificityi

Pituitary gland.

Gene expression databases

BgeeiP01229.
CleanExiHS_LHB.
ExpressionAtlasiP01229. baseline and differential.
GenevisibleiP01229. HS.

Organism-specific databases

HPAiHPA038925.

Interactioni

Subunit structurei

Heterodimer of a common alpha chain and a unique beta chain which confers biological specificity to thyrotropin, lutropin, follitropin and gonadotropin.

Protein-protein interaction databases

STRINGi9606.ENSP00000221421.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1M92model-A1-141[»]
ProteinModelPortaliP01229.
SMRiP01229. Positions 22-131.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG44551.
GeneTreeiENSGT00390000010115.
HOGENOMiHOG000116098.
HOVERGENiHBG006698.
InParanoidiP01229.
KOiK08521.
OrthoDBiEOG7JQBQF.
PhylomeDBiP01229.
TreeFamiTF332940.

Family and domain databases

Gene3Di2.10.90.10. 1 hit.
InterProiIPR029034. Cystine-knot_cytokine.
IPR006208. Glyco_hormone_CN.
IPR001545. Gonadotropin_bsu.
IPR018245. Gonadotropin_bsu_CS.
[Graphical view]
PANTHERiPTHR11515. PTHR11515. 1 hit.
PfamiPF00007. Cys_knot. 1 hit.
[Graphical view]
SMARTiSM00068. GHB. 1 hit.
[Graphical view]
SUPFAMiSSF57501. SSF57501. 1 hit.
PROSITEiPS00261. GLYCO_HORMONE_BETA_1. 1 hit.
PS00689. GLYCO_HORMONE_BETA_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

P01229-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEMLQGLLLL LLLSMGGAWA SREPLRPWCH PINAILAVEK EGCPVCITVN
60 70 80 90 100
TTICAGYCPT MMRVLQAVLP PLPQVVCTYR DVRFESIRLP GCPRGVDPVV
110 120 130 140
SFPVALSCRC GPCRRSTSDC GGPKDHPLTC DHPQLSGLLF L
Length:141
Mass (Da):15,345
Last modified:November 1, 1995 - v3
Checksum:iE411766253113F7C
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti39 – 391E → Q AA sequence (PubMed:1191677).Curated
Sequence conflicti76 – 761Missing AA sequence (PubMed:1191677).Curated
Sequence conflicti132 – 1354HPQL → PQH AA sequence (PubMed:1191677).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151M → I.
Corresponds to variant rs34247911 [ dbSNP | Ensembl ].
VAR_034098
Natural varianti18 – 181A → T More effective in stimulating IP3 but not cAMP production. 1 Publication
Corresponds to variant rs5030775 [ dbSNP | Ensembl ].
VAR_015672
Natural varianti28 – 281W → R.1 Publication
Corresponds to variant rs1800447 [ dbSNP | Ensembl ].
VAR_014589
Natural varianti35 – 351I → T.1 Publication
Corresponds to variant rs34349826 [ dbSNP | Ensembl ].
VAR_014590
Natural varianti74 – 741Q → R in HH23; lack of receptor binding. 1 Publication
Corresponds to variant rs5030773 [ dbSNP | Ensembl ].
VAR_003189
Natural varianti122 – 1221G → S May be implicated in female infertility. 1 Publication
Corresponds to variant rs5030774 [ dbSNP | Ensembl ].
VAR_015673

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X00264 Genomic DNA. Translation: CAA25067.1.
S71273 Genomic DNA. Translation: AAD14960.1. Sequence problems.
CCDSiCCDS12748.1.
PIRiI37994. UTHUB.
RefSeqiNP_000885.1. NM_000894.2.
UniGeneiHs.154704.

Genome annotation databases

EnsembliENST00000221421; ENSP00000221421; ENSG00000104826.
GeneIDi3972.
KEGGihsa:3972.
UCSCiuc002plt.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

SHMPD

The Singapore human mutation and polymorphism database

Wikipedia

Luteinizing hormone entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X00264 Genomic DNA. Translation: CAA25067.1.
S71273 Genomic DNA. Translation: AAD14960.1. Sequence problems.
CCDSiCCDS12748.1.
PIRiI37994. UTHUB.
RefSeqiNP_000885.1. NM_000894.2.
UniGeneiHs.154704.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1M92model-A1-141[»]
ProteinModelPortaliP01229.
SMRiP01229. Positions 22-131.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000221421.

PTM databases

UniCarbKBiP01229.

Polymorphism and mutation databases

BioMutaiLHB.
DMDMi1170834.

Proteomic databases

PaxDbiP01229.
PRIDEiP01229.

Protocols and materials databases

DNASUi3972.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000221421; ENSP00000221421; ENSG00000104826.
GeneIDi3972.
KEGGihsa:3972.
UCSCiuc002plt.3. human.

Organism-specific databases

CTDi3972.
GeneCardsiGC19M049519.
HGNCiHGNC:6584. LHB.
HPAiHPA038925.
MIMi152780. gene.
228300. phenotype.
neXtProtiNX_P01229.
Orphaneti325448. Leydig cell hypoplasia due to LHB deficiency.
PharmGKBiPA30356.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG44551.
GeneTreeiENSGT00390000010115.
HOGENOMiHOG000116098.
HOVERGENiHBG006698.
InParanoidiP01229.
KOiK08521.
OrthoDBiEOG7JQBQF.
PhylomeDBiP01229.
TreeFamiTF332940.

Enzyme and pathway databases

ReactomeiREACT_11047. Mineralocorticoid biosynthesis.
REACT_11059. Androgen biosynthesis.
REACT_15398. Glycoprotein hormones.
REACT_16942. Hormone ligand-binding receptors.
REACT_19327. G alpha (s) signalling events.

Miscellaneous databases

GeneWikiiLuteinizing_hormone_beta_polypeptide.
GenomeRNAii3972.
NextBioi15570.
PROiP01229.
SOURCEiSearch...

Gene expression databases

BgeeiP01229.
CleanExiHS_LHB.
ExpressionAtlasiP01229. baseline and differential.
GenevisibleiP01229. HS.

Family and domain databases

Gene3Di2.10.90.10. 1 hit.
InterProiIPR029034. Cystine-knot_cytokine.
IPR006208. Glyco_hormone_CN.
IPR001545. Gonadotropin_bsu.
IPR018245. Gonadotropin_bsu_CS.
[Graphical view]
PANTHERiPTHR11515. PTHR11515. 1 hit.
PfamiPF00007. Cys_knot. 1 hit.
[Graphical view]
SMARTiSM00068. GHB. 1 hit.
[Graphical view]
SUPFAMiSSF57501. SSF57501. 1 hit.
PROSITEiPS00261. GLYCO_HORMONE_BETA_1. 1 hit.
PS00689. GLYCO_HORMONE_BETA_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "Evolution of the genes for the beta subunits of human chorionic gonadotropin and luteinizing hormone."
    Talmadge K., Vamvakopoulos N.C., Fiddes J.C.
    Nature 307:37-40(1984) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "Human pituitary lutropin. Isolation, properties, and the complete amino acid sequence of the beta-subunit."
    Sairam M.R., Li C.H.
    Biochim. Biophys. Acta 412:70-81(1975) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 21-141.
  3. "The primary structure of the hormone-specific, beta subunit of human pituitary luteinizing hormone (hLH)."
    Shome B., Parlow A.F.
    J. Clin. Endocrinol. Metab. 36:618-621(1973) [PubMed] [Europe PMC] [Abstract]
    Cited for: PRELIMINARY PROTEIN SEQUENCE OF 21-141.
  4. "Structure and significance of human luteinizing hormone-beta core fragment purified from human pituitary extracts."
    Birken S., Chen Y., Gawinowicz M.A., Agosto G.M., Canfield R.E., Hartree A.S.
    Endocrinology 133:985-989(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 26-40 AND 75-89.
    Tissue: Pituitary.
  5. "Human luteinizing hormone. The amino acid sequence of the subunit."
    Closset J., Hennen G., Lequin R.M.
    FEBS Lett. 29:97-100(1973) [PubMed] [Europe PMC] [Abstract]
    Cited for: PRELIMINARY PARTIAL PROTEIN SEQUENCE.
  6. "NMR investigations of the N-linked oligosaccharides at individual glycosylation sites of human lutropin."
    Weisshaar G., Hiyama J., Renwick A.G.C., Nimtz M.
    Eur. J. Biochem. 195:257-268(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE OF CARBOHYDRATE.
  7. "Structure of a receptor-binding fragment from human luteinizing hormone beta-subunit determined by [1H]- and [15N]nuclear magnetic resonance spectroscopy."
    Keutmann H.T., Hua Q.-X., Weiss M.A.
    Mol. Endocrinol. 6:904-913(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 58-77.
  8. "Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone."
    Weiss J., Axelrod L., Whitcomb R.W., Harris P.E., Crowley W.F. Jr., Jameson J.L.
    N. Engl. J. Med. 326:179-183(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN HH23, VARIANT HH23 ARG-74.
  9. "A new molecular variant of luteinizing hormone associated with female infertility."
    Liao W.X., Roy A.C., Chan C., Arulkumaran S., Ratnam S.S.
    Fertil. Steril. 69:102-106(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SER-122.
  10. "Increased prevalence of luteinizing hormone beta-subunit variant in Japanese infertility patients."
    Takahashi K., Kurioka H., Ozaki T., Kanasaki H., Kohsaka M., Miyazaki K., Karino K.
    Hum. Reprod. 13:3338-3344(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARG-28 AND THR-35.
  11. "A novel Ala(-3)Thr mutation in the signal peptide of human luteinizing hormone beta-subunit: potentiation of the inositol phosphate signalling pathway and attenuation of the adenylate cyclase pathway by recombinant variant hormone."
    Jiang M., Lamminen T., Pakarinen P., Hellman J., Manna P., Herrera R.J., Huhtaniemi I.
    Mol. Hum. Reprod. 8:201-212(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT THR-18.

Entry informationi

Entry nameiLSHB_HUMAN
AccessioniPrimary (citable) accession number: P01229
Secondary accession number(s): Q9UDI0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: November 1, 1995
Last modified: July 22, 2015
This is version 159 of the entry and version 3 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.