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FST follistatin [ Homo sapiens (human) ]

Gene ID: 10468, updated on 3-Apr-2024

Summary

Official Symbol
FSTprovided by HGNC
Official Full Name
follistatinprovided by HGNC
Primary source
HGNC:HGNC:3971
See related
Ensembl:ENSG00000134363 MIM:136470; AllianceGenome:HGNC:3971
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FS
Summary
Follistatin is a single-chain gonadal protein that specifically inhibits follicle-stimulating hormone release. The single FST gene encodes two isoforms, FST317 and FST344 containing 317 and 344 amino acids respectively, resulting from alternative splicing of the precursor mRNA. In a study in which 37 candidate genes were tested for linkage and association with polycystic ovary syndrome (PCOS) or hyperandrogenemia in 150 families, evidence was found for linkage between PCOS and follistatin. [provided by RefSeq, Jul 2008]
Expression
Broad expression in liver (RPKM 13.6), placenta (RPKM 7.9) and 16 other tissues See more
Orthologs
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Genomic context

Location:
5q11.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (53480629..53487134)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (54308436..54314946)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (52776459..52782964)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378965 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86008 Neighboring gene RPL13AP13-RPS19P4 intergenic nontranscribed chromatin-defined enhancer Neighboring gene Sharpr-MPRA regulatory region 15081 Neighboring gene Sharpr-MPRA regulatory region 5487 Neighboring gene ribosomal protein S19 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22546 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:52786330-52787529 Neighboring gene NANOG hESC enhancer GRCh37_chr5:52840750-52841391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22547 Neighboring gene NADH:ubiquinone oxidoreductase subunit S4 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:52966977-52967961 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:53007961-53008462 Neighboring gene uncharacterized LOC124900975

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
EBI GWAS Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of follistatin (FST) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables activin binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables activin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables activin receptor antagonist activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables heparan sulfate proteoglycan binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in BMP signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in ameloblast differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in female gonad development IEA
Inferred from Electronic Annotation
more info
 
involved_in gamete generation IEA
Inferred from Electronic Annotation
more info
 
involved_in hair follicle morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in hematopoietic progenitor cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in keratinocyte proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in multicellular organism development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of activin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of activin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of activin receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in odontogenesis of dentin-containing tooth IEA
Inferred from Electronic Annotation
more info
 
involved_in pattern specification process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within positive regulation of hair follicle development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
involved_in skeletal system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in extracellular region IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
follistatin
Names
activin-binding protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028911.1 RefSeqGene

    Range
    5196..11701
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006350.5NP_006341.1  follistatin isoform FST317 precursor

    See identical proteins and their annotated locations for NP_006341.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (FST317) uses an alternate splice junction at the 5' end of an exon compared to variant, that causes a frameshift. The resulting isoform (FST317) has a shorter and distinct C-terminus compared to isoform FST344.
    Source sequence(s)
    AC008901, BC004107, BQ949678, DR760015
    Consensus CDS
    CCDS43315.1
    UniProtKB/TrEMBL
    Q6FHE1
    Related
    ENSP00000380151.2, ENST00000396947.7
    Conserved Domains (2) summary
    smart00274
    Location:94117
    FOLN; Follistatin-N-terminal domain-like
    smart00280
    Location:117164
    KAZAL; Kazal type serine protease inhibitors
  2. NM_013409.3NP_037541.1  follistatin isoform FST344 precursor

    See identical proteins and their annotated locations for NP_037541.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (FST344) encodes the longer isoform (FST344).
    Source sequence(s)
    AC008901, BC004107, DR760015
    Consensus CDS
    CCDS3959.1
    UniProtKB/Swiss-Prot
    B5BU94, P19883, Q9BTH0
    UniProtKB/TrEMBL
    Q6FHE1
    Related
    ENSP00000256759.3, ENST00000256759.8
    Conserved Domains (2) summary
    smart00274
    Location:94117
    FOLN; Follistatin-N-terminal domain-like
    smart00280
    Location:117164
    KAZAL; Kazal type serine protease inhibitors

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    53480629..53487134
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248402.5XP_005248459.1  follistatin isoform X6

    UniProtKB/TrEMBL
    Q6FHE1
    Conserved Domains (2) summary
    smart00274
    Location:94117
    FOLN; Follistatin-N-terminal domain-like
    smart00280
    Location:117164
    KAZAL; Kazal type serine protease inhibitors
  2. XM_005248400.5XP_005248457.1  follistatin isoform X1

    UniProtKB/TrEMBL
    Q6FHE1
    Conserved Domains (2) summary
    smart00274
    Location:94117
    FOLN; Follistatin-N-terminal domain-like
    smart00280
    Location:117164
    KAZAL; Kazal type serine protease inhibitors
  3. XM_047416631.1XP_047272587.1  follistatin isoform X7

  4. XM_005248403.5XP_005248460.1  follistatin isoform X8

    See identical proteins and their annotated locations for XP_005248460.1

    UniProtKB/TrEMBL
    Q6FHE1
    Conserved Domains (2) summary
    smart00274
    Location:94117
    FOLN; Follistatin-N-terminal domain-like
    smart00280
    Location:117164
    KAZAL; Kazal type serine protease inhibitors
  5. XM_005248401.5XP_005248458.1  follistatin isoform X3

    See identical proteins and their annotated locations for XP_005248458.1

    UniProtKB/TrEMBL
    Q6FHE1
    Conserved Domains (2) summary
    smart00274
    Location:94117
    FOLN; Follistatin-N-terminal domain-like
    smart00280
    Location:117164
    KAZAL; Kazal type serine protease inhibitors
  6. XM_017008954.2XP_016864443.1  follistatin isoform X5

    UniProtKB/TrEMBL
    Q6FHE1
  7. XM_011543099.3XP_011541401.1  follistatin isoform X2

    UniProtKB/TrEMBL
    Q6FHE1
    Conserved Domains (3) summary
    smart00274
    Location:162185
    FOLN; Follistatin-N-terminal domain-like
    smart00280
    Location:112159
    KAZAL; Kazal type serine protease inhibitors
    pfam09289
    Location:90111
    FOLN; Follistatin/Osteonectin-like EGF domain
  8. XM_024454326.2XP_024310094.1  follistatin isoform X4

    UniProtKB/TrEMBL
    Q6FHE1
    Conserved Domains (3) summary
    smart00274
    Location:162185
    FOLN; Follistatin-N-terminal domain-like
    smart00280
    Location:112159
    KAZAL; Kazal type serine protease inhibitors
    pfam09289
    Location:90111
    FOLN; Follistatin/Osteonectin-like EGF domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    54308436..54314946
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351435.1XP_054207410.1  follistatin isoform X6

  2. XM_054351430.1XP_054207405.1  follistatin isoform X1

  3. XM_054351436.1XP_054207411.1  follistatin isoform X7

  4. XM_054351437.1XP_054207412.1  follistatin isoform X8

  5. XM_054351432.1XP_054207407.1  follistatin isoform X3

  6. XM_054351434.1XP_054207409.1  follistatin isoform X5

  7. XM_054351438.1XP_054207413.1  follistatin isoform X9

  8. XM_054351439.1XP_054207414.1  follistatin isoform X10

  9. XM_054351440.1XP_054207415.1  follistatin isoform X11

  10. XM_054351431.1XP_054207406.1  follistatin isoform X2

  11. XM_054351433.1XP_054207408.1  follistatin isoform X4