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Protein

Follitropin subunit beta

Gene

FSHB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • follicle-stimulating hormone activity Source: AgBase
  • hormone activity Source: ProtInc

GO - Biological processi

  • cell-cell signaling Source: GO_Central
  • female gamete generation Source: ProtInc
  • female pregnancy Source: ProtInc
  • follicle-stimulating hormone signaling pathway Source: GO_Central
  • hormone-mediated signaling pathway Source: GO_Central
  • peptide hormone processing Source: Reactome
  • positive regulation of bone resorption Source: Ensembl
  • positive regulation of cell migration Source: BHF-UCL
  • positive regulation of cell proliferation Source: BHF-UCL
  • positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  • progesterone biosynthetic process Source: BHF-UCL
  • regulation of osteoclast differentiation Source: Ensembl
  • Sertoli cell proliferation Source: Ensembl
  • signal transduction Source: ProtInc
  • transforming growth factor beta receptor signaling pathway Source: BHF-UCL

Keywordsi

Molecular functionHormone

Enzyme and pathway databases

ReactomeiR-HSA-209822. Glycoprotein hormones.
R-HSA-375281. Hormone ligand-binding receptors.
R-HSA-418555. G alpha (s) signalling events.
SABIO-RKiP01225.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:3964. FSHB.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • extracellular region Source: Reactome
  • extracellular space Source: GO_Central

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Hypogonadotropic hypogonadism 24 without anosmia (HH24)3 Publications
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. HH24 is characterized by primary amenorrhea in women, oligo or azoospermia with low to normal testosterone levels in men, and infertility.
See also OMIM:229070
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03301569C → G in HH24. 1 PublicationCorresponds to variant dbSNP:rs5030776Ensembl.1

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, Hypogonadotropic hypogonadism

Organism-specific databases

DisGeNETi2488.
MalaCardsiFSHB.
MIMi229070. phenotype.
OpenTargetsiENSG00000131808.
Orphaneti52901. Isolated follicle stimulating hormone deficiency.
PharmGKBiPA28382.

Polymorphism and mutation databases

BioMutaiFSHB.
DMDMi120552.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 181 PublicationAdd BLAST18
ChainiPRO_000001171119 – 129Follitropin subunit betaAdd BLAST111

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi21 ↔ 69
Glycosylationi25N-linked (GlcNAc...) asparagine2 Publications1
Disulfide bondi35 ↔ 84
Disulfide bondi38 ↔ 122
Glycosylationi42N-linked (GlcNAc...) asparagine2 Publications1
Disulfide bondi46 ↔ 100
Disulfide bondi50 ↔ 102
Disulfide bondi105 ↔ 112

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP01225.
PeptideAtlasiP01225.
PRIDEiP01225.

PTM databases

iPTMnetiP01225.
PhosphoSitePlusiP01225.
UniCarbKBiP01225.

Expressioni

Gene expression databases

BgeeiENSG00000131808.
CleanExiHS_FSHB.
ExpressionAtlasiP01225. baseline and differential.
GenevisibleiP01225. HS.

Organism-specific databases

HPAiCAB023410.
HPA069703.

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

GO - Molecular functioni

  • follicle-stimulating hormone activity Source: AgBase
  • hormone activity Source: ProtInc

Protein-protein interaction databases

BioGridi108766. 1 interactor.
DIPiDIP-35604N.
ELMiP01225.
IntActiP01225. 2 interactors.
STRINGi9606.ENSP00000254122.

Structurei

Secondary structure

1129
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi21 – 32Combined sources12
Helixi33 – 35Combined sources3
Beta strandi37 – 53Combined sources17
Beta strandi68 – 81Combined sources14
Beta strandi85 – 87Combined sources3
Beta strandi90 – 103Combined sources14
Turni107 – 109Combined sources3
Beta strandi110 – 114Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB 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.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP01225.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IWHY. Eukaryota.
ENOG4111ZSU. LUCA.
GeneTreeiENSGT00390000010115.
HOGENOMiHOG000116098.
HOVERGENiHBG006698.
InParanoidiP01225.
KOiK05250.
OMAiAVEKEEC.
OrthoDBiEOG091G0XFH.
PhylomeDBiP01225.
TreeFamiTF332940.

Family and domain databases

CDDicd00069. GHB_like. 1 hit.
Gene3Di2.10.90.10. 1 hit.
InterProiView protein in InterPro
IPR029034. Cystine-knot_cytokine.
IPR006208. Glyco_hormone_CN.
IPR001545. Gonadotropin_bsu.
IPR018245. Gonadotropin_bsu_CS.
PANTHERiPTHR11515. PTHR11515. 1 hit.
PfamiView protein in Pfam
PF00007. Cys_knot. 1 hit.
SMARTiView protein in SMART
SM00068. GHB. 1 hit.
SUPFAMiSSF57501. SSF57501. 1 hit.
PROSITEiView protein in PROSITE
PS00261. GLYCO_HORMONE_BETA_1. 1 hit.
PS00689. GLYCO_HORMONE_BETA_2. 1 hit.

Sequencei

Sequence statusi: Complete.

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

P01225-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKTLQFFFLF CCWKAICCNS CELTNITIAI EKEECRFCIS INTTWCAGYC
60 70 80 90 100
YTRDLVYKDP ARPKIQKTCT FKELVYETVR VPGCAHHADS LYTYPVATQC
110 120
HCGKCDSDST DCTVRGLGPS YCSFGEMKE
Length:129
Mass (Da):14,700
Last modified:October 1, 1989 - v2
Checksum:i9D2AF00DD76B8E2B
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01204720S → I1 PublicationCorresponds to variant dbSNP:rs6170Ensembl.1
Natural variantiVAR_03301569C → G in HH24. 1 PublicationCorresponds to variant dbSNP:rs5030776Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFSHB_HUMAN
AccessioniPrimary (citable) accession number: P01225
Secondary accession number(s): A2TF08, A5JVV3, Q14D61
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: October 1, 1989
Last modified: August 30, 2017
This is version 183 of the entry and version 2 of the sequence. See 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