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FUS FUS RNA binding protein [ Homo sapiens (human) ]

Gene ID: 2521, updated on 14-Nov-2024

Summary

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Official Symbol
FUSprovided by HGNC
Official Full Name
FUS RNA binding proteinprovided by HGNC
Primary source
HGNC:HGNC:4010
See related
Ensembl:ENSG00000089280 MIM:137070; AllianceGenome:HGNC:4010
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
TLS; ALS6; ETM4; FUS1; POMP75; altFUS; HNRNPP2
Summary
This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm. This protein belongs to the FET family of RNA-binding proteins which have been implicated in cellular processes that include regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. Alternative splicing results in multiple transcript variants. Defects in this gene result in amyotrophic lateral sclerosis type 6. [provided by RefSeq, Sep 2009]
Expression
Ubiquitous expression in appendix (RPKM 32.4), lymph node (RPKM 29.5) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See FUS in Genome Data Viewer
Location:
16p11.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (31180110..31194871)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31567541..31582292)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (31191431..31206192)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31149797-31150490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31150491-31151183 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31151465-31152000 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31152001-31152534 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7411 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10750 Neighboring gene serine protease 36 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31160021-31160558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31160559-31161094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31161095-31161631 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:31181095-31181755 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10751 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31190697-31191457 Neighboring gene NADH:ubiquinone oxidoreductase subunit A3 pseudogene 6 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31191458-31192219 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31192220-31192980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31193602-31194102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31212912-31213542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10757 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7416 Neighboring gene PYCARD antisense RNA 1 Neighboring gene PYD and CARD domain containing Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31224931-31225846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31225847-31226761 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31227677-31228591 Neighboring gene tripartite motif containing 72 Neighboring gene pyrin domain containing 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Sclerosing epithelioid fibrosarcoma - a report of two cases with cytogenetic analysis of FUS gene rearrangement by FISH technique. Rekhi B, et al. Pathol Oncol Res, 2011 Mar. PMID 20499220
  2. Cytoplasmic granule formation by FUS-R495X is attributable to arginine methylation in all Gly-rich, RGG1 and RGG2 domains. Kawahara D, et al. Genes Cells, 2021 Mar. PMID 33411976
  3. FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion. Suzuki N, et al. J Hum Genet, 2010 Apr. PMID 20224596
  4. A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS. Corcia P, et al. Amyotroph Lateral Scler Frontotemporal Degener, 2017 May. PMID 28054830
  5. De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis. DeJesus-Hernandez M, et al. Hum Mutat, 2010 May. PMID 20232451, Free PMC Article

See all (728) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. FUS::DDIT3 Fusion Protein in the Development of Myxoid Liposarcoma and Possible Implications for Therapy.
    Title: FUS::DDIT3 Fusion Protein in the Development of Myxoid Liposarcoma and Possible Implications for Therapy.
  2. FUS-Mediated CircFGFR1 Accelerates the Development of Papillary Thyroid Carcinoma by Stabilizing FGFR1 Protein.
    Title: FUS-Mediated CircFGFR1 Accelerates the Development of Papillary Thyroid Carcinoma by Stabilizing FGFR1 Protein.
  3. Frontotemporal dementia-like disease progression elicited by seeded aggregation and spread of FUS.
    Title: Frontotemporal dementia-like disease progression elicited by seeded aggregation and spread of FUS.
  4. Post-translational modification sites are present in hydrophilic cavities of alpha-synuclein, tau, FUS, and TDP-43 fibrils: A molecular dynamics study.
    Title: Post-translational modification sites are present in hydrophilic cavities of alpha-synuclein, tau, FUS, and TDP-43 fibrils: A molecular dynamics study.
  5. FUS reads histone H3K36me3 to regulate alternative polyadenylation.
    Title: FUS reads histone H3K36me3 to regulate alternative polyadenylation.
  6. Deciphering the role of FUS::DDIT3 expression and tumor microenvironment in myxoid liposarcoma development.
    Title: Deciphering the role of FUS::DDIT3 expression and tumor microenvironment in myxoid liposarcoma development.
  7. A dynamic regulatory switch for phase separation of FUS protein: Zinc ions and zinc finger domain.
    Title: A dynamic regulatory switch for phase separation of FUS protein: Zinc ions and zinc finger domain.
  8. An aberrant fused in sarcoma liquid droplet of amyotrophic lateral sclerosis pathological variant, R495X, accelerates liquid-solid phase transition.
    Title: An aberrant fused in sarcoma liquid droplet of amyotrophic lateral sclerosis pathological variant, R495X, accelerates liquid-solid phase transition.
  9. RNA and the RNA-binding protein FUS act in concert to prevent TDP-43 spatial segregation.
    Title: RNA and the RNA-binding protein FUS act in concert to prevent TDP-43 spatial segregation.
  10. Cell-Type-Dependent Recruitment Dynamics of FUS Protein at Laser-Induced DNA Damage Sites.
    Title: Cell-Type-Dependent Recruitment Dynamics of FUS Protein at Laser-Induced DNA Damage Sites.
Submit: New GeneRIF Correction See all GeneRIFs (449)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Amyotrophic lateral sclerosis type 6
MedGen: C2931786 OMIM: 608030 GeneReviews: Amyotrophic Lateral Sclerosis Overview
not available
Tremor, hereditary essential, 4
MedGen: C3539195 OMIM: 614782 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev interacting protein, FUS (fused in sarcoma; HNRNPP2), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with FUS is increased by RRE PubMed
Tat tat FUS RNA binding protein (FUS) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables RNA binding EXP
Inferred from Experiment
more info
 PubMed 
enables RNA binding HDA PubMed 
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables mRNA 3'-UTR binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables molecular condensate scaffold activity EXP
Inferred from Experiment
more info
 PubMed 
enables molecular condensate scaffold activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables molecular condensate scaffold activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription coactivator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription coregulator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in RNA splicing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in amyloid fibril formation EXP
Inferred from Experiment
more info
 PubMed 
involved_in amyloid fibril formation IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within mRNA stabilization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in membraneless organelle assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein homooligomerization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of RNA splicing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in intracellular membraneless organelle IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in nucleoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in postsynaptic cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in presynaptic cytosol IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
RNA-binding protein FUS
Names
75 kDa DNA-pairing protein
fus-like protein
fused in sarcoma
fusion gene in myxoid liposarcoma
heterogeneous nuclear ribonucleoprotein P2
oncogene FUS
oncogene TLS
translocated in liposarcoma protein

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

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_012889.2 RefSeqGene

    Range
    4979..19740
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_655

mRNA and Protein(s)

  1. NM_001170634.1 → NP_001164105.1  RNA-binding protein FUS isoform 2

    See identical proteins and their annotated locations for NP_001164105.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter isoform (2), compared to isoform 1.
    Source sequence(s)
    AC009088, AI333366, DC361263
    Consensus CDS
    CCDS58454.1
    UniProtKB/TrEMBL
    H3BPE7
    Related
    ENSP00000369594.3, ENST00000380244.8
    Conserved Domains (3) summary
    COG0724
    Location:263 → 373
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12535
    Location:282 → 367
    RRM_FUS_TAF15; RNA recognition motif in vertebrate fused in Ewing's sarcoma protein (FUS), TATA-binding protein-associated factor 15 (TAF15) and similar proteins
    pfam00641
    Location:421 → 448
    zf-RanBP; Zn-finger in Ran binding protein and others

  2. NM_001170937.1 → NP_001164408.1  RNA-binding protein FUS isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
    Source sequence(s)
    AC009088, AI333366, DA541747, DC361263, U36561
    UniProtKB/TrEMBL
    H3BPE7
    Conserved Domains (3) summary
    COG0724
    Location:260 → 370
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12535
    Location:279 → 364
    RRM_FUS_TAF15; RNA recognition motif in vertebrate fused in Ewing's sarcoma protein (FUS), TATA-binding protein-associated factor 15 (TAF15) and similar proteins
    pfam00641
    Location:418 → 445
    zf-RanBP; Zn-finger in Ran binding protein and others

  3. NM_004960.4 → NP_004951.1  RNA-binding protein FUS isoform 1

    See identical proteins and their annotated locations for NP_004951.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC009088, BC002459
    Consensus CDS
    CCDS10707.1
    UniProtKB/Swiss-Prot
    P35637
    UniProtKB/TrEMBL
    H3BPE7, Q6IBQ5
    Related
    ENSP00000254108.8, ENST00000254108.12
    Conserved Domains (2) summary
    cd12535
    Location:283 → 368
    RRM_FUS_TAF15; RNA recognition motif in vertebrate fused in Ewing's sarcoma protein (FUS), TATA-binding protein-associated factor 15 (TAF15) and similar proteins
    pfam00641
    Location:422 → 449
    zf-RanBP; Zn-finger in Ran binding protein and others

RNA

  1. NR_028388.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) omits an exon in the coding sequence, compared to variant 1, resulting in a frameshift and premature stop codon. The transcript is predicted to be subject to nonsense-mediated decay and thus the truncated protein is not annotated.
    Source sequence(s)
    AC009088, AI333366, AW408771, DC361263

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    31180110..31194871
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545781.2 → XP_011544083.1  RNA-binding protein FUS isoform X1

    UniProtKB/TrEMBL
    A0AAQ5BIG2, H3BPE7
    Related
    ENSP00000520462.1, ENST00000715542.1
    Conserved Domains (3) summary
    COG0724
    Location:262 → 372
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12535
    Location:281 → 366
    RRM_FUS_TAF15; RNA recognition motif in vertebrate fused in Ewing's sarcoma protein (FUS), TATA-binding protein-associated factor 15 (TAF15) and similar proteins
    pfam00641
    Location:420 → 447
    zf-RanBP; Zn-finger in Ran binding protein and others

  2. XM_024450221.2 → XP_024305989.1  RNA-binding protein FUS isoform X2

    UniProtKB/TrEMBL
    H3BPE7
    Conserved Domains (2) summary
    cd12535
    Location:280 → 365
    RRM_FUS_TAF15; RNA recognition motif in vertebrate fused in Ewing's sarcoma protein (FUS), TATA-binding protein-associated factor 15 (TAF15) and similar proteins
    pfam00641
    Location:419 → 446
    zf-RanBP; Zn-finger in Ran binding protein and others

  3. XM_011545782.3 → XP_011544084.1  RNA-binding protein FUS isoform X3

    See identical proteins and their annotated locations for XP_011544084.1

    UniProtKB/TrEMBL
    Q59H57
    Conserved Domains (3) summary
    COG0724
    Location:63 → 169
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12535
    Location:78 → 163
    RRM_FUS_TAF15; RNA recognition motif in vertebrate fused in Ewing's sarcoma protein (FUS), TATA-binding protein-associated factor 15 (TAF15) and similar proteins
    pfam00641
    Location:217 → 244
    zf-RanBP; Zn-finger in Ran binding protein and others

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    31567541..31582292
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379990.1 → XP_054235965.1  RNA-binding protein FUS isoform X1

    UniProtKB/TrEMBL
    A0AAQ5BIG2

  2. XM_054379991.1 → XP_054235966.1  RNA-binding protein FUS isoform X2

  3. XM_054379992.1 → XP_054235967.1  RNA-binding protein FUS isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001010850.1: Suppressed sequence

    Description
    NM_001010850.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P35637.1 GenPept UniProtKB/Swiss-Prot:P35637

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