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

    Gene ID: 2521, updated on 12-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
    		Compare labs
    Tremor, hereditary essential, 4
    MedGen: C3539195 OMIM: 614782 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 non-membrane-bounded 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 non-membrane-bounded 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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