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    FUS fused in sarcoma [ Homo sapiens ]

    Gene ID: 2521, updated on 20-May-2012

    Summary

    Official Symbol
    FUSprovided by HGNC
    Official Full Name
    fused in sarcomaprovided by HGNC
    Primary source
    HGNC:4010
    See related
    Ensembl:ENSG00000089280; HPRD:00660; MIM:137070; Vega:OTTHUMG00000132395
    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; 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]

    Genomic context

    Location :
    16p11.2
    Sequence :
    Chromosome: 16; NC_000016.9 (31191431..31206192)

    Chromosome 16 - NC_000016.9Genomic Context describing neighboring genes Neighboring gene protease, serine, 8 Neighboring gene protease, serine, 36 Neighboring gene uncharacterized LOC100652740 Neighboring gene PYD and CARD domain containing Neighboring gene tripartite motif containing 72 Neighboring gene PYD (pyrin domain) containing 1

    Genomic regions, transcripts, and products

    Bibliography

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

    Interactions

    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:232850 Ccdc15    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:119986 DGCR8    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:109898 EIF6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:109822 ILF3    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:108797 BioGRID:204968 Mapk13    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:120751 OTUB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108797 BioGRID:111139 PCM1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:109512 PRMT1    BioGRID  PubMed Biochemical Activity; 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:111902 RELA    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108797 BioGRID:112168 RXRA    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108797 BioGRID:124049 SARNP    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108797 BioGRID:113368 SF1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108797 BioGRID:112566 SPI1    BioGRID  PubMed Affinity Capture-Western; Co-purification; Reconstituted Complex 
    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:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:207949 Shoc2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:117003 TARDBP    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108797 BioGRID:112923 THRA    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108797 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:113238 USF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:116363 WBP4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108797 BioGRID:110959 YBX1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108797 BioGRID:113534 ZMYM2    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    • Homologs of the FUS gene: The FUS gene is conserved in chimpanzee, , cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, A.thaliana, and rice.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    • 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...

    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
     
    metal ion 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
     
    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
     
    nuclear mRNA splicing, via spliceosome TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular IEA
    Inferred from Electronic Annotation
    more info
     
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    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
      UniProtKB/Swiss-Prot
      P35637
      Related
      ENSP00000369594, OTTHUMP00000255007, ENST00000380244, OTTHUMT00000433551
      Conserved Domains (2) summary
      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 ...
      cl02656
      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
      Related
      ENSP00000378041, ENST00000394533
      Conserved Domains (2) summary
      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 ...
      cl02656
      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
      Related
      ENSP00000254108, OTTHUMP00000163228, ENST00000254108, OTTHUMT00000255526
      Conserved Domains (2) summary
      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 ...
      cl02656
      Location:426449
      Blast Score: 87
      zf-RanBP; Zn-finger in Ran binding protein and others

    RNA

    1. NR_028388.2 RNA Sequence

      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: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000016.9 Reference GRCh37.p5 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)

    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.

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC009088.9 (63046..77396) None
    genomic AF071213.1 AAC35284.1
      AAC35285.1
    genomic CH471192.1 EAW52150.1
      EAW52151.1
      EAW52152.1
    mRNA AB208902.1 BAD92139.1
    mRNA AI333366.1 None
    mRNA AK098774.1 None
    mRNA AK130774.1 None
    mRNA AK290936.1 BAF83625.1
    mRNA AK299129.1 BAG61182.1
    mRNA AK301110.1 BAG62709.1
    mRNA AW408771.1 None
    mRNA AW514140.1 None
    mRNA BC000402.2 AAH00402.1
    mRNA BC002459.1 AAH02459.1
    mRNA BC026062.2 AAH26062.1
    mRNA BC051293.1 None
    mRNA BT007131.1 AAP35795.1
    mRNA BX423519.2 None
    mRNA CR456747.1 CAG33028.1
    mRNA DA541747.1 None
    mRNA DC361263.1 None
    mRNA GU933437.1 None
    mRNA R07006.1 None
    mRNA S62140.1 AAB27102.1
    mRNA U00942.1 None
    mRNA U36561.1 AAA79948.1
    mRNA X71428.1 CAA50559.1
    other-genetic DQ891705.2 ABM82631.1
    other-genetic DQ894882.2 ABM85808.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P35637.1 GenPept UniProtKB/Swiss-Prot:P35637
    Q13344 GenPept UniProtKB/TrEMBL:Q13344
    Q59H57 GenPept UniProtKB/TrEMBL:Q59H57
    Q6IBQ5 GenPept UniProtKB/TrEMBL:Q6IBQ5
    Q8TBR3 GenPept UniProtKB/TrEMBL:Q8TBR3

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