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P01225

- FSHB_HUMAN

UniProt

P01225 - FSHB_HUMAN

Protein

Follitropin subunit beta

Gene

FSHB

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

    Stimulates development of follicle and spermatogenesis in the reproductive organs.

    GO - Molecular functioni

    1. hormone activity Source: ProtInc
    2. protein binding Source: IntAct

    GO - Biological processi

    1. cellular protein metabolic process Source: Reactome
    2. female gamete generation Source: ProtInc
    3. female pregnancy Source: ProtInc
    4. follicle-stimulating hormone signaling pathway Source: Ensembl
    5. peptide hormone processing Source: Reactome
    6. positive regulation of bone resorption Source: Ensembl
    7. positive regulation of cell migration Source: BHF-UCL
    8. positive regulation of cell proliferation Source: BHF-UCL
    9. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    10. progesterone biosynthetic process Source: BHF-UCL
    11. regulation of osteoclast differentiation Source: Ensembl
    12. Sertoli cell proliferation Source: Ensembl
    13. signal transduction Source: ProtInc
    14. transforming growth factor beta receptor signaling pathway Source: BHF-UCL

    Keywords - Molecular functioni

    Hormone

    Enzyme and pathway databases

    ReactomeiREACT_15398. Glycoprotein hormones.
    REACT_16942. Hormone ligand-binding receptors.
    REACT_19327. G alpha (s) signalling events.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Follitropin subunit beta
    Alternative name(s):
    Follicle-stimulating hormone beta subunit
    Short name:
    FSH-B
    Short name:
    FSH-beta
    Follitropin beta chain
    Gene namesi
    Name:FSHB
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:3964. FSHB.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. extracellular region Source: UniProtKB
    3. extracellular vesicular exosome Source: UniProt

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti69 – 691C → G in IFSHD. 1 Publication
    Corresponds to variant rs5030776 [ dbSNP | Ensembl ].
    VAR_033015

    Pharmaceutical usei

    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.

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi229070. phenotype.
    Orphaneti52901. Isolated follicle stimulating hormone deficiency.
    PharmGKBiPA28382.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 18181 PublicationAdd
    BLAST
    Chaini19 – 129111Follitropin subunit betaPRO_0000011711Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi21 ↔ 69
    Glycosylationi25 – 251N-linked (GlcNAc...)2 Publications
    Disulfide bondi35 ↔ 84
    Disulfide bondi38 ↔ 122
    Glycosylationi42 – 421N-linked (GlcNAc...)2 Publications
    Disulfide bondi46 ↔ 100
    Disulfide bondi50 ↔ 102
    Disulfide bondi105 ↔ 112

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiP01225.
    PeptideAtlasiP01225.
    PRIDEiP01225.

    PTM databases

    UniCarbKBiP01225.

    Expressioni

    Gene expression databases

    ArrayExpressiP01225.
    BgeeiP01225.
    CleanExiHS_FSHB.
    GenevestigatoriP01225.

    Interactioni

    Subunit structurei

    Heterodimer of a common alpha chain and a unique beta chain which confers biological specificity to thyrotropin, lutropin, follitropin and gonadotropin.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CGAP012152EBI-1030645,EBI-718913

    Protein-protein interaction databases

    BioGridi108766. 1 interaction.
    DIPiDIP-35604N.
    IntActiP01225. 2 interactions.
    STRINGi9606.ENSP00000254122.

    Structurei

    Secondary structure

    1
    129
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi21 – 3212
    Helixi33 – 353
    Beta strandi37 – 5317
    Beta strandi68 – 8114
    Beta strandi85 – 873
    Beta strandi90 – 10314
    Turni107 – 1093
    Beta strandi110 – 1145

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1FL7X-ray3.00B/D19-129[»]
    1XWDX-ray2.92B/E19-129[»]
    4AY9X-ray2.50B/E/H19-129[»]
    4MQWX-ray2.90B/E/H19-129[»]
    ProteinModelPortaliP01225.
    SMRiP01225. Positions 19-125.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP01225.

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG41629.
    HOGENOMiHOG000116098.
    HOVERGENiHBG006698.
    InParanoidiP01225.
    KOiK05250.
    OMAiCFLFCCW.
    OrthoDBiEOG7JQBQF.
    PhylomeDBiP01225.
    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.

    P01225-1 [UniParc]FASTAAdd to Basket

    « Hide

    MKTLQFFFLF CCWKAICCNS CELTNITIAI EKEECRFCIS INTTWCAGYC    50
    YTRDLVYKDP ARPKIQKTCT FKELVYETVR VPGCAHHADS LYTYPVATQC 100
    HCGKCDSDST DCTVRGLGPS YCSFGEMKE 129
    Length:129
    Mass (Da):14,700
    Last modified:October 1, 1989 - v2
    Checksum:i9D2AF00DD76B8E2B
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti20 – 201S → I.1 Publication
    Corresponds to variant rs6170 [ dbSNP | Ensembl ].
    VAR_012047
    Natural varianti69 – 691C → G in IFSHD. 1 Publication
    Corresponds to variant rs5030776 [ dbSNP | Ensembl ].
    VAR_033015

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS7868.1.
    PIRiA40920. FTHUB.
    RefSeqiNP_000501.1. NM_000510.2.
    NP_001018090.1. NM_001018080.1.
    UniGeneiHs.36975.

    Genome annotation databases

    EnsembliENST00000254122; ENSP00000254122; ENSG00000131808.
    ENST00000417547; ENSP00000416606; ENSG00000131808.
    ENST00000533718; ENSP00000433424; ENSG00000131808.
    GeneIDi2488.
    KEGGihsa:2488.
    UCSCiuc001msl.3. human.

    Polymorphism databases

    DMDMi120552.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    SHMPD

    The Singapore human mutation and polymorphism database

    Wikipedia

    Follicle-stimulating hormone entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS7868.1.
    PIRi A40920. FTHUB.
    RefSeqi NP_000501.1. NM_000510.2.
    NP_001018090.1. NM_001018080.1.
    UniGenei Hs.36975.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1FL7 X-ray 3.00 B/D 19-129 [» ]
    1XWD X-ray 2.92 B/E 19-129 [» ]
    4AY9 X-ray 2.50 B/E/H 19-129 [» ]
    4MQW X-ray 2.90 B/E/H 19-129 [» ]
    ProteinModelPortali P01225.
    SMRi P01225. Positions 19-125.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108766. 1 interaction.
    DIPi DIP-35604N.
    IntActi P01225. 2 interactions.
    STRINGi 9606.ENSP00000254122.

    Chemistry

    DrugBanki DB00066. Follitropin beta.
    DB00024. Thyrotropin Alfa.
    DB00094. Urofollitropin.

    PTM databases

    UniCarbKBi P01225.

    Polymorphism databases

    DMDMi 120552.

    Proteomic databases

    PaxDbi P01225.
    PeptideAtlasi P01225.
    PRIDEi P01225.

    Protocols and materials databases

    DNASUi 2488.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000254122 ; ENSP00000254122 ; ENSG00000131808 .
    ENST00000417547 ; ENSP00000416606 ; ENSG00000131808 .
    ENST00000533718 ; ENSP00000433424 ; ENSG00000131808 .
    GeneIDi 2488.
    KEGGi hsa:2488.
    UCSCi uc001msl.3. human.

    Organism-specific databases

    CTDi 2488.
    GeneCardsi GC11P030210.
    HGNCi HGNC:3964. FSHB.
    MIMi 136530. gene.
    229070. phenotype.
    neXtProti NX_P01225.
    Orphaneti 52901. Isolated follicle stimulating hormone deficiency.
    PharmGKBi PA28382.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG41629.
    HOGENOMi HOG000116098.
    HOVERGENi HBG006698.
    InParanoidi P01225.
    KOi K05250.
    OMAi CFLFCCW.
    OrthoDBi EOG7JQBQF.
    PhylomeDBi P01225.
    TreeFami TF332940.

    Enzyme and pathway databases

    Reactomei REACT_15398. Glycoprotein hormones.
    REACT_16942. Hormone ligand-binding receptors.
    REACT_19327. G alpha (s) signalling events.

    Miscellaneous databases

    EvolutionaryTracei P01225.
    GeneWikii FSHB.
    GenomeRNAii 2488.
    NextBioi 9829.
    PROi P01225.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P01225.
    Bgeei P01225.
    CleanExi HS_FSHB.
    Genevestigatori P01225.

    Family and domain databases

    Gene3Di 2.10.90.10. 1 hit.
    InterProi IPR029034. Cystine-knot_cytokine.
    IPR006208. Glyco_hormone_CN.
    IPR001545. Gonadotropin_bsu.
    IPR018245. Gonadotropin_bsu_CS.
    [Graphical view ]
    PANTHERi PTHR11515. PTHR11515. 1 hit.
    Pfami PF00007. Cys_knot. 1 hit.
    [Graphical view ]
    SMARTi SM00068. GHB. 1 hit.
    [Graphical view ]
    SUPFAMi SSF57501. SSF57501. 1 hit.
    PROSITEi PS00261. GLYCO_HORMONE_BETA_1. 1 hit.
    PS00689. GLYCO_HORMONE_BETA_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. 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. Cited for: VARIANT ILE-20.

    Entry informationi

    Entry nameiFSHB_HUMAN
    AccessioniPrimary (citable) accession number: P01225
    Secondary accession number(s): A2TF08, A5JVV3, Q14D61
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 21, 1986
    Last sequence update: October 1, 1989
    Last modified: October 1, 2014
    This is version 159 of the entry and version 2 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, Pharmaceutical, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: 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