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    FUS fused in sarcoma [ Homo sapiens (human) ]

    Gene ID: 2521, updated on 9-Jun-2013
    Official Symbol
    FUSprovided by HGNC
    Official Full Name
    fused in sarcomaprovided by HGNC
    Primary source
    HGNC:4010
    See related
    HPRD:00660; MIM:137070
    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; 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]
    Location :
    16p11.2
    Sequence :
    Chromosome: 16; NC_000016.9 (31191431..31206192)
    See FUS in Epigenomics

    Chromosome 16 - NC_000016.9Genomic Context describing neighboring genes Neighboring gene protease, serine, 8 Neighboring gene protease, serine, 36 Neighboring gene chromosome 16 open reading frame 98 Neighboring gene PYD and CARD domain containing Neighboring gene tripartite motif containing 72 Neighboring gene PYD (pyrin domain) containing 1

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Amyotrophic lateral sclerosis type 6

    Summary from GeneReviews: Amyotrophic Lateral Sclerosis Overview Go to GeneReviews

    Disease Characteristics
    Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both upper motor neurons (UMN) and lower motor neurons (LMN). UMN signs include hyperreflexia, extensor plantar response, increased muscle tone, and weakness in a topographic representation. LMN signs include weakness, muscle wasting, hyporeflexia, muscle cramps, and fasciculations. Initial presentation varies. Affected individuals typically present with either asymmetric focal weakness of the extremities (stumbling or poor handgrip) or bulbar findings (dysarthria, dysphagia). Other findings may include muscle fasciculations, muscle cramps, and labile affect, but not necessarily mood. Regardless of initial symptoms, atrophy and weakness eventually affect other muscles. The mean age of onset is 56 years in individuals with no known family history and 46 years in individuals with more than one affected family member (familial ALS or FALS). Average disease duration is about three years, but it can vary significantly. Death usually results from compromise of the respiratory muscles.
    Diagnosis Testing
    The diagnosis of ALS is based on clinical features, electrodiagnostic testing, and exclusion of other health conditions with related symptoms. Molecular genetic testing plays a prominent role in diagnosis of the genetic subtype and genetic counseling.
    Genetic Counseling
    Amyotrophic lateral sclerosis can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Genetic counseling and risk assessment depend on accurate determination of the specific genetic diagnosis.
    References
    Protein Gene Interaction Pubs
    Rev, p19 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

    Go to the HIV-1, Human Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    P35637 P35637 FUS    HPRD  PubMed  
    P35637 Q05586 GRIN1    HPRD  PubMed  
    P35637 O15399 GRIN2D    HPRD  PubMed  
    P35637 Q12906 ILF3    HPRD  PubMed  
    P35637 P24928 POLR2A    HPRD  PubMed  
    P35637 Q99873 PRMT1    HPRD  PubMed  
    P35637 P26599 PTBP1    HPRD  PubMed  
    P35637 Q04206 RELA    HPRD  PubMed  
    P35637 P19793 RXRA    HPRD  PubMed  
    P35637 Q15637 SF1    HPRD  PubMed  
    P35637 P23246 SFPQ    HPRD  PubMed  
    P35637 P17947 SPI1    HPRD  PubMed  
    P35637 Q8IYB3 SRRM1    HPRD  PubMed  
    P35637 O75494 SRSF10    HPRD  PubMed  
    P35637 Q01130 SRSF2    HPRD  PubMed  
    P35637 Q08170 SRSF4    HPRD  PubMed  
    P35637 P10827 THRA    HPRD  PubMed  
    P35637 P67809 YBX1    HPRD  PubMed  
    P35637 Q9UBW7 ZMYM2    HPRD  PubMed  
    BioGRID:108797 BioGRID:122127 ARHGEF28    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108797 BioGRID:131172 ATXN1L    BioGRID  PubMed Two-hybrid 
    BioGRID:108797 BioGRID:120937 CAND1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:107452 CDK2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:116183 COPS5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:116176 COPS6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:107880 CTNNB1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Two-hybrid 
    BioGRID:108797 BioGRID:114032 CUL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:114031 CUL2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:114030 CUL3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:114029 CUL4A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:114028 CUL4B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:113743 CUL5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:232850 Ccdc15    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:119920 DCUN1D1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:119986 DGCR8    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:108117 DYNC1H1    BioGRID  PubMed Co-fractionation 
    BioGRID:108797 BioGRID:36929 ECM32    BioGRID  PubMed Dosage Rescue 
    BioGRID:108797 BioGRID:108237 EEF1A1    BioGRID  PubMed Co-fractionation 
    BioGRID:108797 BioGRID:109898 EIF6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:108403 ESR1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:108405 ESRRA    BioGRID  PubMed Two-hybrid 
    BioGRID:108797 BioGRID:108431 EWSR1    BioGRID  PubMed Two-hybrid 
    BioGRID:108797 BioGRID:108621 FN1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:109142 GRB2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:116808 GSE1    BioGRID  PubMed Co-fractionation 
    BioGRID:108797 BioGRID:128670 HNRNPA3    BioGRID  PubMed Co-fractionation 
    BioGRID:108797 BioGRID:109433 HNRNPU    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:109789 IL7R    BioGRID  PubMed Protein-RNA 
    BioGRID:108797 BioGRID:109822 ILF3    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:108797 BioGRID:109883 ITGA4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:115899 KHDRBS3    BioGRID  PubMed Two-hybrid 
    BioGRID:108797 BioGRID:115114 KIAA0101    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:119584 LARS    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:119788 MBD3    BioGRID  PubMed Co-fractionation 
    BioGRID:108797 BioGRID:110355 MDH1    BioGRID  PubMed Two-hybrid 
    BioGRID:108797 BioGRID:118797 MRPS18B    BioGRID  PubMed Co-fractionation 
    BioGRID:108797 BioGRID:204968 Mapk13    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:36521 NAM8    BioGRID  PubMed Dosage Rescue 
    BioGRID:108797 BioGRID:110815 NEDD8    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:124517 NKD2    BioGRID  PubMed Two-hybrid 
    BioGRID:108797 BioGRID:110904 NONO    BioGRID  PubMed Co-fractionation 
    BioGRID:108797 BioGRID:120751 OTUB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108797 BioGRID:111075 PA2G4    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:108797 BioGRID:111139 PCM1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:111314 PIK3R2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:109512 PRMT1    BioGRID  PubMed Biochemical Activity; Two-hybrid 
    BioGRID:108797 BioGRID:111668 PSMB7    BioGRID  PubMed Two-hybrid 
    BioGRID:108797 BioGRID:121796 PTBP2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108797 BioGRID:214756 Pds5a    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:118134 RBMX    BioGRID  PubMed Two-hybrid 
    BioGRID:108797 BioGRID:111902 RELA    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108797 BioGRID:112095 RPLP1    BioGRID  PubMed Co-fractionation 
    BioGRID:108797 BioGRID:112168 RXRA    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108797 BioGRID:115022 SAFB2    BioGRID  PubMed Two-hybrid 
    BioGRID:108797 BioGRID:118881 SAP30BP    BioGRID  PubMed Co-fractionation 
    BioGRID:108797 BioGRID:124049 SARNP    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108797 BioGRID:36388 SBP1    BioGRID  PubMed Dosage Rescue 
    BioGRID:108797 BioGRID:113368 SF1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108797 BioGRID:113826 SF3A2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:119602 SIRT7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:35661 SKO1    BioGRID  PubMed Dosage Rescue 
    BioGRID:108797 BioGRID:112566 SPI1    BioGRID  PubMed Affinity Capture-Western; Co-purification; Reconstituted Complex 
    BioGRID:108797 BioGRID:114397 SQSTM1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108797 BioGRID:115544 SRRM1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108797 BioGRID:115990 SRSF10    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:108797 BioGRID:114231 SRSF9    BioGRID  PubMed Two-hybrid 
    BioGRID:108797 BioGRID:113188 SUMO1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108797 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:112496 SUMO3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108797 BioGRID:207949 Shoc2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:113807 TAF15    BioGRID  PubMed Two-hybrid 
    BioGRID:108797 BioGRID:117003 TARDBP    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108797 BioGRID:112791 TCF3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108797 BioGRID:112787 TCF4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108797 BioGRID:123514 TDRD3    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Two-hybrid 
    BioGRID:108797 BioGRID:112923 THRA    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108797 BioGRID:115602 TNIP1    BioGRID  PubMed Two-hybrid 
    BioGRID:108797 BioGRID:114181 TP63    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:108797 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:115791 UBD    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:113177 UBE2I    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108797 BioGRID:113885 UBL4A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:111908 UPF1    BioGRID  PubMed Dosage Rescue 
    BioGRID:108797 BioGRID:113238 USF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:113255 VCAM1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:34935 VHR1    BioGRID  PubMed Dosage Rescue 
    BioGRID:108797 BioGRID:116363 WBP4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:113306 WHSC1    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:108797 BioGRID:110959 YBX1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:108797 BioGRID:113534 ZMYM2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:1205542 rev    BioGRID  PubMed Affinity Capture-MS 
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystem (from REACTOME)
      Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystemCo-transcriptional pre-mRNA splicing is not obligatory. Pre-mRNA splicing begins co-transcriptionally and often continues post-transcriptionally. Human genes contain an average of nine introns per ge...
    • Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
      Transcriptional misregulation in cancer, organism-specific biosystem
      Transcriptional misregulation in cancer
    • Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
      Transcriptional misregulation in cancer, conserved biosystem
      Transcriptional misregulation in cancer
    • mRNA Splicing, organism-specific biosystem (from REACTOME)
      mRNA Splicing, organism-specific biosystemThe process in which excision of introns from the primary transcript of messenger RNA (mRNA) is followed by ligation of the two exon termini exposed by removal of each intron, is called mRNA splicing...
    • mRNA Splicing - Major Pathway, organism-specific biosystem (from REACTOME)
      mRNA Splicing - Major Pathway, organism-specific biosystemThe splicing of pre-mRNA occurs within a large, very dynamic complex, designated the 'spliceosome'. The 50-60S spliceosomes are estimated to be 40-60 nm in diameter, and have molecular weights in the...
    • mRNA processing, organism-specific biosystem (from WikiPathways)
      mRNA processing, organism-specific biosystemThis process describes the conversion of precursor messenger RNA into mature messenger RNA (mRNA). The pre-mRNA molecule undergoes three main modifications. These modifications are 5' capping, 3' po...

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    RNA splicing TAS
    Traceable Author Statement
    more info
     
    cell death IEA
    Inferred from Electronic Annotation
    more info
     
    gene expression TAS
    Traceable Author Statement
    more info
     
    mRNA splicing, via spliceosome TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    RNA-binding protein FUS
    Names
    RNA-binding protein FUS
    oncogene FUS
    oncogene TLS
    fus-like protein
    75 kDa DNA-pairing protein
    fusion gene in myxoid liposarcoma
    translocated in liposarcoma protein
    heterogeneous nuclear ribonucleoprotein P2

    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)

    mRNA and Protein(s)

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

      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/Swiss-Prot
      P35637
      Conserved Domains (3) summary
      COG0724
      Location:263369
      Blast Score: 119
      COG0724; RNA-binding proteins (RRM domain) [General function prediction only]
      cd00590
      Location:285367
      Blast Score: 163
      RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA ...
      pfam00641
      Location:425448
      Blast Score: 87
      zf-RanBP; Zn-finger in Ran binding protein and others
    2. NM_001170937.1NP_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
      Q13344
      Conserved Domains (3) summary
      COG0724
      Location:260366
      Blast Score: 119
      COG0724; RNA-binding proteins (RRM domain) [General function prediction only]
      cd00590
      Location:282364
      Blast Score: 163
      RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA ...
      pfam00641
      Location:422445
      Blast Score: 87
      zf-RanBP; Zn-finger in Ran binding protein and others
    3. NM_004960.3NP_004951.1  RNA-binding protein FUS isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC009088, AI333366, AW408771, BC002459, DC361263
      Consensus CDS
      CCDS10707.1
      UniProtKB/Swiss-Prot
      P35637
      UniProtKB/TrEMBL
      Q6IBQ5
      Conserved Domains (3) summary
      COG0724
      Location:264370
      Blast Score: 119
      COG0724; RNA-binding proteins (RRM domain) [General function prediction only]
      cd00590
      Location:286368
      Blast Score: 163
      RRM; RRM (RNA recognition motif), also known as RBD (RNA binding domain) or RNP (ribonucleoprotein domain), is a highly abundant domain in eukaryotes found in proteins involved in post-transcriptional gene expression processes including mRNA and rRNA ...
      pfam00641
      Location:426449
      Blast Score: 87
      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: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000016.9 Reference GRCh37.p10 Primary Assembly

      Range
      31191431..31206192
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000148.1 Alternate HuRef

      Range
      28753052..28767812
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018927.1 Alternate CHM1_1.0

      Range
      32192625..32207386
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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.