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P01225

- FSHB_HUMAN

UniProt

P01225 - FSHB_HUMAN

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Protein

Follitropin subunit beta

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

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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
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 – 18183 PublicationsAdd
BLAST
Chaini19 – 129111Follitropin subunit betaPRO_0000011711Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi21 ↔ 693 Publications
Glycosylationi25 – 251N-linked (GlcNAc...)2 Publications
Disulfide bondi35 ↔ 843 Publications
Disulfide bondi38 ↔ 1223 Publications
Glycosylationi42 – 421N-linked (GlcNAc...)2 Publications
Disulfide bondi46 ↔ 1003 Publications
Disulfide bondi50 ↔ 1023 Publications
Disulfide bondi105 ↔ 1123 Publications

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.

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.

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 158 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

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