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P01225 (FSHB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 154. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Follitropin subunit beta
Alternative name(s):
Follicle-stimulating hormone beta subunit
Short name=FSH-B
Short name=FSH-beta
Follitropin beta chain
Gene names
Name:FSHB
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length129 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Stimulates development of follicle and spermatogenesis in the reproductive organs.

Subunit structure

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

Subcellular location

Secreted.

Involvement in disease

Isolated follicle-stimulating hormone deficiency (IFSHD) [MIM:229070]: Selective follicle-stimulating hormone deficiency is an uncommon cause of infertility, producing amenorrhea and hypogonadism in women and oligo or azoospermia with normal testosterone levels in normally virilised men.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.15 Ref.16 Ref.17

Pharmaceutical use

Available under the names Gonal-F or Metrodin HP (Serono) and Puregon (Organon). Used in the treatment of infertility in women with proven hypopituitarism or who have not responded to clomifene; or in superovulation treatment for assisted conception (such as in vitro fertilization). Metrodin HP is also used in the treatment of hypogonadotrophic hypogonadism in men for the stimulation of spermatogenesis.

Sequence similarities

Belongs to the glycoprotein hormones subunit beta family.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainSignal
   Molecular functionHormone
   PTMDisulfide bond
Glycoprotein
   Technical term3D-structure
Complete proteome
Direct protein sequencing
Pharmaceutical
Reference proteome
Gene Ontology (GO)
   Biological_processSertoli cell proliferation

Inferred from electronic annotation. Source: Ensembl

cellular protein metabolic process

Traceable author statement. Source: Reactome

female gamete generation

Traceable author statement Ref.15. Source: ProtInc

female pregnancy

Traceable author statement Ref.15. Source: ProtInc

follicle-stimulating hormone signaling pathway

Inferred from electronic annotation. Source: Ensembl

peptide hormone processing

Traceable author statement. Source: Reactome

positive regulation of bone resorption

Inferred from electronic annotation. Source: Ensembl

positive regulation of cell migration

Non-traceable author statement PubMed 20613903. Source: BHF-UCL

positive regulation of cell proliferation

Non-traceable author statement PubMed 20613903. Source: BHF-UCL

positive regulation of transcription from RNA polymerase II promoter

Non-traceable author statement PubMed 20613903. Source: BHF-UCL

progesterone biosynthetic process

Traceable author statement PubMed 14557487. Source: BHF-UCL

regulation of osteoclast differentiation

Inferred from electronic annotation. Source: Ensembl

signal transduction

Traceable author statement Ref.15. Source: ProtInc

transforming growth factor beta receptor signaling pathway

Inferred from expression pattern PubMed 14557487. Source: BHF-UCL

   Cellular_componentcytoplasm

Inferred from direct assay PubMed 14602737. Source: UniProtKB

extracellular region

Non-traceable author statement PubMed 14718574. Source: UniProtKB

   Molecular_functionhormone activity

Traceable author statement Ref.15. Source: ProtInc

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

CGAP012152EBI-1030645,EBI-718913

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1818 Ref.8 Ref.9 Ref.10
Chain19 – 129111Follitropin subunit beta
PRO_0000011711

Amino acid modifications

Glycosylation251N-linked (GlcNAc...) Ref.10 Ref.14
Glycosylation421N-linked (GlcNAc...) Ref.10 Ref.14
Disulfide bond21 ↔ 69 Ref.11 Ref.12 Ref.14
Disulfide bond35 ↔ 84 Ref.11 Ref.12 Ref.14
Disulfide bond38 ↔ 122 Ref.11 Ref.12 Ref.14
Disulfide bond46 ↔ 100 Ref.11 Ref.12 Ref.14
Disulfide bond50 ↔ 102 Ref.11 Ref.12 Ref.14
Disulfide bond105 ↔ 112 Ref.11 Ref.12 Ref.14

Natural variations

Natural variant201S → I. Ref.18
Corresponds to variant rs6170 [ dbSNP | Ensembl ].
VAR_012047
Natural variant691C → G in IFSHD. Ref.16
Corresponds to variant rs5030776 [ dbSNP | Ensembl ].
VAR_033015

Secondary structure

............. 129
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P01225 [UniParc].

Last modified October 1, 1989. Version 2.
Checksum: 9D2AF00DD76B8E2B

FASTA12914,700
        10         20         30         40         50         60 
MKTLQFFFLF CCWKAICCNS CELTNITIAI EKEECRFCIS INTTWCAGYC YTRDLVYKDP 

        70         80         90        100        110        120 
ARPKIQKTCT FKELVYETVR VPGCAHHADS LYTYPVATQC HCGKCDSDST DCTVRGLGPS 


YCSFGEMKE 

« Hide

References

« Hide 'large scale' references
[1]"DNA sequence and regional assignment of the human follicle-stimulating hormone beta-subunit gene to the short arm of human chromosome 11."
Watkins P.C., Eddy R., Beck A.K., Vellucci V., Leverone B., Tanzi R.E., Gusella J.F., Shows T.B.
DNA 6:205-212(1987) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"Expression of biologically active human follitropin in Chinese hamster ovary cells."
Keene J.L., Matzuk M.M., Otani T., Fauser B.C.J.M., Galway A.B., Hsueh A.J.W., Boime I.
J. Biol. Chem. 264:4769-4775(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"Human follicle-stimulating hormone beta-subunit gene encodes multiple messenger ribonucleic acids."
Jameson J.L., Becker C.B., Lindell C.M., Habener J.F.
Mol. Endocrinol. 2:806-815(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]"Follicle-stimulating hormone (FSHB) beta subunit genes."
Akbari Eidgahi M.R., Shaebani A.A., Nasr R.
Submitted (AUG-2007) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[5]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[8]"A reevaluation of the amino acid sequence of human follitropin beta-subunit."
Shome B., Parlow A.F., Liu W.K., Nahm H.S., Wen T., Ward D.N.
J. Protein Chem. 7:325-339(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 19-129.
[9]"Amino acid sequence of the beta subunit of follicle-stimulating hormone from human pituitary glands."
Saxena B.B., Rathnam P.
J. Biol. Chem. 251:993-1005(1976) [PubMed] [Europe PMC] [Abstract]
Cited for: PRELIMINARY PROTEIN SEQUENCE OF 19-129.
[10]"Human follicle stimulating hormone: first proposal for the amino acid sequence of the hormone-specific, beta subunit (hFSHb)."
Shome B., Parlow A.F.
J. Clin. Endocrinol. Metab. 39:203-205(1974) [PubMed] [Europe PMC] [Abstract]
Cited for: PRELIMINARY PROTEIN SEQUENCE OF 19-129.
[11]"Studies on the disulfide bonds in human pituitary follicle-stimulating hormone."
Fujiki Y., Rathnam P., Saxena B.B.
Biochim. Biophys. Acta 624:428-435(1980) [PubMed] [Europe PMC] [Abstract]
Cited for: PRELIMINARY ASSIGNMENT OF DISULFIDE BONDS.
[12]"Assignment of the complete disulphide bridge pattern in the human recombinant follitropin beta-chain."
Amoresano A., Orru S., Siciliano R.A., De Luca E., Napoleoni R., Sirna A., Pucci P.
Biol. Chem. 382:961-968(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: DISULFIDE BONDS.
[13]"Three-dimensional structure of human follicle-stimulating hormone."
Fox K.M., Dias J.A., Van Roey P.
Mol. Endocrinol. 15:378-389(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF MUTANT ALA-27.
[14]"Structure of human follicle-stimulating hormone in complex with its receptor."
Fan Q.R., Hendrickson W.A.
Nature 433:269-277(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.92 ANGSTROMS) OF 19-129 IN COMPLEX WITH CGA AND FSHR, DISULFIDE BONDS, GLYCOSYLATION AT ASN-25 AND ASN-42.
[15]"Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone."
Matthews C.H., Borgato S., Beck-Peccoz P., Adams M., Tone Y., Gambino G., Casagrande S., Tedeschini G., Benedetti A., Chatterjee V.K.K.
Nat. Genet. 5:83-86(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN IFSHD.
[16]"Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene."
Layman L.C., Lee E.-J., Peak D.B., Namnoum A.B., Vu K.V., van Lingen B.L., Gray M.R., McDonough P.G., Reindollar R.H., Jameson J.L.
N. Engl. J. Med. 337:607-611(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT IFSHD GLY-69.
[17]"Isolated deficiency of follicle-stimulating hormone re-revisited."
Matthews C., Chatterjee V.K.
N. Engl. J. Med. 337:642-642(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN IFSHD.
[18]"Characterization of single-nucleotide polymorphisms in coding regions of human genes."
Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S.
Nat. Genet. 22:231-238(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ILE-20.
[19]Erratum
Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S.
Nat. Genet. 23:373-373(1999)
+Additional computationally mapped references.

Web resources

GeneReviews
SHMPD

The Singapore human mutation and polymorphism database

Wikipedia

Follicle-stimulating hormone entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M16647, M16646 Genomic DNA. Translation: AAA52476.1.
M24540, M24539 Genomic DNA. Translation: AAA52470.1.
M54914, M54913 Genomic DNA. Translation: AAB02868.1.
EF198021 Genomic DNA. Translation: ABM88373.1.
EF585489 mRNA. Translation: ABQ57401.1.
EF585490 Genomic DNA. Translation: ABQ57402.1.
EU081884 Genomic DNA. Translation: ABU96749.1.
EU081885 Genomic DNA. Translation: ABU96750.1.
AL358944 Genomic DNA. No translation available.
CH471064 Genomic DNA. Translation: EAW68260.1.
BC113488 mRNA. Translation: AAI13489.1.
BC113490 mRNA. Translation: AAI13491.1.
PIRFTHUB. A40920.
RefSeqNP_000501.1. NM_000510.2.
NP_001018090.1. NM_001018080.1.
UniGeneHs.36975.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1FL7X-ray3.00B/D19-129[»]
1XWDX-ray2.92B/E19-129[»]
4AY9X-ray2.50B/E/H19-129[»]
ProteinModelPortalP01225.
SMRP01225. Positions 19-125.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108766. 1 interaction.
DIPDIP-35604N.
IntActP01225. 2 interactions.
STRING9606.ENSP00000254122.

Chemistry

DrugBankDB00066. Follitropin beta.
DB00024. Thyrotropin Alfa.
DB00094. Urofollitropin.

PTM databases

UniCarbKBP01225.

Polymorphism databases

DMDM120552.

Proteomic databases

PaxDbP01225.
PeptideAtlasP01225.
PRIDEP01225.

Protocols and materials databases

DNASU2488.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000254122; ENSP00000254122; ENSG00000131808.
ENST00000417547; ENSP00000416606; ENSG00000131808.
ENST00000533718; ENSP00000433424; ENSG00000131808.
GeneID2488.
KEGGhsa:2488.
UCSCuc001msl.3. human.

Organism-specific databases

CTD2488.
GeneCardsGC11P030210.
HGNCHGNC:3964. FSHB.
MIM136530. gene.
229070. phenotype.
neXtProtNX_P01225.
Orphanet52901. Isolated follicle stimulating hormone deficiency.
PharmGKBPA28382.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG41629.
HOGENOMHOG000116098.
HOVERGENHBG006698.
InParanoidP01225.
KOK05250.
OMATWCAGYC.
OrthoDBEOG7JQBQF.
PhylomeDBP01225.
TreeFamTF332940.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_17015. Metabolism of proteins.

Gene expression databases

ArrayExpressP01225.
BgeeP01225.
CleanExHS_FSHB.
GenevestigatorP01225.

Family and domain databases

InterProIPR006208. Glyco_hormone_CN.
IPR001545. Gonadotropin_bsu.
IPR018245. Gonadotropin_bsu_CS.
[Graphical view]
PANTHERPTHR11515. PTHR11515. 1 hit.
PfamPF00007. Cys_knot. 1 hit.
[Graphical view]
SMARTSM00068. GHB. 1 hit.
[Graphical view]
PROSITEPS00261. GLYCO_HORMONE_BETA_1. 1 hit.
PS00689. GLYCO_HORMONE_BETA_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceP01225.
GeneWikiFSHB.
GenomeRNAi2488.
NextBio9829.
PROP01225.
SOURCESearch...

Entry information

Entry nameFSHB_HUMAN
AccessionPrimary (citable) accession number: P01225
Secondary accession number(s): A2TF08, A5JVV3, Q14D61
Entry history
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: October 1, 1989
Last modified: April 16, 2014
This is version 154 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM