LOCUS       NM_004960               1824 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens FUS RNA binding protein (FUS), transcript variant 1,
            mRNA.
ACCESSION   NM_004960
VERSION     NM_004960.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1824)
  AUTHORS   Hou,X., Shi,W., Luo,W., Luo,Y., Huang,X., Li,J., Ji,N. and Chen,Q.
  TITLE     FUS::DDIT3 Fusion Protein in the Development of Myxoid Liposarcoma
            and Possible Implications for Therapy
  JOURNAL   Biomolecules 14 (10), 1297 (2024)
   PUBMED   39456230
  REMARK    GeneRIF: FUS::DDIT3 Fusion Protein in the Development of Myxoid
            Liposarcoma and Possible Implications for Therapy.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1824)
  AUTHORS   Vazquez-Sanchez,S., Tilkin,B., Gasset-Rosa,F., Zhang,S., Piol,D.,
            McAlonis-Downes,M., Artates,J., Govea-Perez,N., Verresen,Y.,
            Guo,L., Cleveland,D.W., Shorter,J. and Da Cruz,S.
  TITLE     Frontotemporal dementia-like disease progression elicited by seeded
            aggregation and spread of FUS
  JOURNAL   Mol Neurodegener 19 (1), 46 (2024)
   PUBMED   38862967
  REMARK    GeneRIF: Frontotemporal dementia-like disease progression elicited
            by seeded aggregation and spread of FUS.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1824)
  AUTHORS   Chen,Y., Pei,X., Chen,L. and Chen,L.
  TITLE     A dynamic regulatory switch for phase separation of FUS protein:
            Zinc ions and zinc finger domain
  JOURNAL   Biochem Biophys Res Commun 710, 149862 (2024)
   PUBMED   38593618
  REMARK    GeneRIF: A dynamic regulatory switch for phase separation of FUS
            protein: Zinc ions and zinc finger domain.
REFERENCE   4  (bases 1 to 1824)
  AUTHORS   Ranji,P., Jonasson,E., Andersson,L., Filges,S., Luna Santamaria,M.,
            Vannas,C., Dolatabadi,S., Gustafsson,A., Myklebost,O.,
            Hakansson,J., Fagman,H., Landberg,G., Aman,P. and Stahlberg,A.
  TITLE     Deciphering the role of FUS::DDIT3 expression and tumor
            microenvironment in myxoid liposarcoma development
  JOURNAL   J Transl Med 22 (1), 389 (2024)
   PUBMED   38671504
  REMARK    GeneRIF: Deciphering the role of FUS::DDIT3 expression and tumor
            microenvironment in myxoid liposarcoma development.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1824)
  AUTHORS   Shiramasa,Y., Yamamoto,R., Kashiwagi,N., Sasaki,F., Imai,S.,
            Ike,M., Kitazawa,S., Kameda,T. and Kitahara,R.
  TITLE     An aberrant fused in sarcoma liquid droplet of amyotrophic lateral
            sclerosis pathological variant, R495X, accelerates liquid-solid
            phase transition
  JOURNAL   Sci Rep 14 (1), 8914 (2024)
   PUBMED   38632300
  REMARK    GeneRIF: An aberrant fused in sarcoma liquid droplet of amyotrophic
            lateral sclerosis pathological variant, R495X, accelerates
            liquid-solid phase transition.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1824)
  AUTHORS   Panagopoulos,I., Mandahl,N., Ron,D., Hoglund,M., Nilbert,M.,
            Mertens,F., Mitelman,F. and Aman,P.
  TITLE     Characterization of the CHOP breakpoints and fusion transcripts in
            myxoid liposarcomas with the 12;16 translocation
  JOURNAL   Cancer Res 54 (24), 6500-6503 (1994)
   PUBMED   7987849
REFERENCE   7  (bases 1 to 1824)
  AUTHORS   Ichikawa,H., Shimizu,K., Hayashi,Y. and Ohki,M.
  TITLE     An RNA-binding protein gene, TLS/FUS, is fused to ERG in human
            myeloid leukemia with t(16;21) chromosomal translocation
  JOURNAL   Cancer Res 54 (11), 2865-2868 (1994)
   PUBMED   8187069
REFERENCE   8  (bases 1 to 1824)
  AUTHORS   Rabbitts,T.H., Forster,A., Larson,R. and Nathan,P.
  TITLE     Fusion of the dominant negative transcription regulator CHOP with a
            novel gene FUS by translocation t(12;16) in malignant liposarcoma
  JOURNAL   Nat Genet 4 (2), 175-180 (1993)
   PUBMED   7503811
REFERENCE   9  (bases 1 to 1824)
  AUTHORS   Siddique,N. and Siddique,T.
  TITLE     Amyotrophic Lateral Sclerosis Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301623
REFERENCE   10 (bases 1 to 1824)
  AUTHORS   Eneroth,M., Mandahl,N., Heim,S., Willen,H., Rydholm,A.,
            Alberts,K.A. and Mitelman,F.
  TITLE     Localization of the chromosomal breakpoints of the t(12;16) in
            liposarcoma to subbands 12q13.3 and 16p11.2
  JOURNAL   Cancer Genet Cytogenet 48 (1), 101-107 (1990)
   PUBMED   2372777
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009088.9 and BC002459.1.
            
            On Dec 4, 2019 this sequence version replaced NM_004960.3.
            
            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].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC000402.2, AK290936.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000254108.12/ ENSP00000254108.8
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-89                AC009088.9         63054-63142
            90-114              AC009088.9         65313-65337
            115-266             AC009088.9         65428-65579
            267-411             AC009088.9         66773-66917
            412-599             AC009088.9         67124-67311
            600-840             AC009088.9         67854-68094
            841-875             AC009088.9         69717-69751
            876-908             AC009088.9         71240-71272
            909-1012            AC009088.9         72038-72141
            1013-1142           AC009088.9         72580-72709
            1143-1244           AC009088.9         72955-73056
            1245-1368           AC009088.9         73190-73313
            1369-1469           AC009088.9         73657-73757
            1470-1617           AC009088.9         73878-74025
            1618-1789           AC009088.9         74314-74485
            1790-1824           BC002459.1         1754-1788
FEATURES             Location/Qualifiers
     source          1..1824
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..1824
                     /gene="FUS"
                     /gene_synonym="ALS6; altFUS; ETM4; FUS1; HNRNPP2; POMP75;
                     TLS"
                     /note="FUS RNA binding protein"
                     /db_xref="GeneID:2521"
                     /db_xref="HGNC:HGNC:4010"
                     /db_xref="MIM:137070"
     exon            1..89
                     /gene="FUS"
                     /gene_synonym="ALS6; altFUS; ETM4; FUS1; HNRNPP2; POMP75;
                     TLS"
                     /inference="alignment:Splign:2.1.0"
     CDS             77..1657
                     /gene="FUS"
                     /gene_synonym="ALS6; altFUS; ETM4; FUS1; HNRNPP2; POMP75;
                     TLS"
                     /note="isoform 1 is encoded by transcript variant 1;
                     heterogeneous nuclear ribonucleoprotein P2; fused in
                     sarcoma; fusion gene in myxoid liposarcoma; 75 kDa
                     DNA-pairing protein; RNA-binding protein FUS; oncogene
                     TLS; fus-like protein; oncogene FUS; translocated in
                     liposarcoma protein"
                     /codon_start=1
                     /product="RNA-binding protein FUS isoform 1"
                     /protein_id="NP_004951.1"
                     /db_xref="CCDS:CCDS10707.1"
                     /db_xref="GeneID:2521"
                     /db_xref="HGNC:HGNC:4010"
                     /db_xref="MIM:137070"
                     /translation="MASNDYTQQATQSYGAYPTQPGQGYSQQSSQPYGQQSYSGYSQS
                     TDTSGYGQSSYSSYGQSQNTGYGTQSTPQGYGSTGGYGSSQSSQSSYGQQSSYPGYGQ
                     QPAPSSTSGSYGSSSQSSSYGQPQSGSYSQQPSYGGQQQSYGQQQSYNPPQGYGQQNQ
                     YNSSSGGGGGGGGGGNYGQDQSSMSSGGGSGGGYGNQDQSGGGGSGGYGQQDRGGRGR
                     GGSGGGGGGGGGGYNRSSGGYEPRGRGGGRGGRGGMGGSDRGGFNKFGGPRDQGSRHD
                     SEQDNSDNNTIFVQGLGENVTIESVADYFKQIGIIKTNKKTGQPMINLYTDRETGKLK
                     GEATVSFDDPPSAKAAIDWFDGKEFSGNPIKVSFATRRADFNRGGGNGRGGRGRGGPM
                     GRGGYGGGGSGGGGRGGFPSGGGGGGGQQRAGDWKCPNPTCENMNFSWRNECNQCKAP
                     KPDGPGGGPGGSHMGGNYGDDRRGGRGGYDRGGYRGRGGDRGGFRGGRGGGDRGGFGP
                     GKMDSRGEHRQDRRERPY"
     exon            90..114
                     /gene="FUS"
                     /gene_synonym="ALS6; altFUS; ETM4; FUS1; HNRNPP2; POMP75;
                     TLS"
                     /inference="alignment:Splign:2.1.0"
     exon            115..266
                     /gene="FUS"
                     /gene_synonym="ALS6; altFUS; ETM4; FUS1; HNRNPP2; POMP75;
                     TLS"
                     /inference="alignment:Splign:2.1.0"
     exon            267..411
                     /gene="FUS"
                     /gene_synonym="ALS6; altFUS; ETM4; FUS1; HNRNPP2; POMP75;
                     TLS"
                     /inference="alignment:Splign:2.1.0"
     exon            412..599
                     /gene="FUS"
                     /gene_synonym="ALS6; altFUS; ETM4; FUS1; HNRNPP2; POMP75;
                     TLS"
                     /inference="alignment:Splign:2.1.0"
     exon            600..840
                     /gene="FUS"
                     /gene_synonym="ALS6; altFUS; ETM4; FUS1; HNRNPP2; POMP75;
                     TLS"
                     /inference="alignment:Splign:2.1.0"
     exon            841..875
                     /gene="FUS"
                     /gene_synonym="ALS6; altFUS; ETM4; FUS1; HNRNPP2; POMP75;
                     TLS"
                     /inference="alignment:Splign:2.1.0"
     exon            876..908
                     /gene="FUS"
                     /gene_synonym="ALS6; altFUS; ETM4; FUS1; HNRNPP2; POMP75;
                     TLS"
                     /inference="alignment:Splign:2.1.0"
     exon            909..1012
                     /gene="FUS"
                     /gene_synonym="ALS6; altFUS; ETM4; FUS1; HNRNPP2; POMP75;
                     TLS"
                     /inference="alignment:Splign:2.1.0"
     exon            1013..1142
                     /gene="FUS"
                     /gene_synonym="ALS6; altFUS; ETM4; FUS1; HNRNPP2; POMP75;
                     TLS"
                     /inference="alignment:Splign:2.1.0"
     exon            1143..1244
                     /gene="FUS"
                     /gene_synonym="ALS6; altFUS; ETM4; FUS1; HNRNPP2; POMP75;
                     TLS"
                     /inference="alignment:Splign:2.1.0"
     exon            1245..1368
                     /gene="FUS"
                     /gene_synonym="ALS6; altFUS; ETM4; FUS1; HNRNPP2; POMP75;
                     TLS"
                     /inference="alignment:Splign:2.1.0"
     exon            1369..1469
                     /gene="FUS"
                     /gene_synonym="ALS6; altFUS; ETM4; FUS1; HNRNPP2; POMP75;
                     TLS"
                     /inference="alignment:Splign:2.1.0"
     exon            1470..1617
                     /gene="FUS"
                     /gene_synonym="ALS6; altFUS; ETM4; FUS1; HNRNPP2; POMP75;
                     TLS"
                     /inference="alignment:Splign:2.1.0"
     exon            1618..1824
                     /gene="FUS"
                     /gene_synonym="ALS6; altFUS; ETM4; FUS1; HNRNPP2; POMP75;
                     TLS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1800..1805
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FUS"
                     /gene_synonym="ALS6; altFUS; ETM4; FUS1; HNRNPP2; POMP75;
                     TLS"
                     /note="hexamer: ATTAAA"
     polyA_site      1824
                     /gene="FUS"
                     /gene_synonym="ALS6; altFUS; ETM4; FUS1; HNRNPP2; POMP75;
                     TLS"
                     /note="major polyA site"
ORIGIN      
        1 gctcagtcct ccaggcgtcg gtactcagcg gtgttggaac ttcgttgctt gcttgcctgt
       61 gcgcgcgtgc gcggacatgg cctcaaacga ttatacccaa caagcaaccc aaagctatgg
      121 ggcctacccc acccagcccg ggcagggcta ttcccagcag agcagtcagc cctacggaca
      181 gcagagttac agtggttata gccagtccac ggacacttca ggctatggcc agagcagcta
      241 ttcttcttat ggccagagcc agaacacagg ctatggaact cagtcaactc cccagggata
      301 tggctcgact ggcggctatg gcagtagcca gagctcccaa tcgtcttacg ggcagcagtc
      361 ctcctaccct ggctatggcc agcagccagc tcccagcagc acctcgggaa gttacggtag
      421 cagttctcag agcagcagct atgggcagcc ccagagtggg agctacagcc agcagcctag
      481 ctatggtgga cagcagcaaa gctatggaca gcagcaaagc tataatcccc ctcagggcta
      541 tggacagcag aaccagtaca acagcagcag tggtggtgga ggtggaggtg gaggtggagg
      601 taactatggc caagatcaat cctccatgag tagtggtggt ggcagtggtg gcggttatgg
      661 caatcaagac cagagtggtg gaggtggcag cggtggctat ggacagcagg accgtggagg
      721 ccgcggcagg ggtggcagtg gtggcggcgg cggcggcggc ggtggtggtt acaaccgcag
      781 cagtggtggc tatgaaccca gaggtcgtgg aggtggccgt ggaggcagag gtggcatggg
      841 cggaagtgac cgtggtggct tcaataaatt tggtggccct cgggaccaag gatcacgtca
      901 tgactccgaa caggataatt cagacaacaa caccatcttt gtgcaaggcc tgggtgagaa
      961 tgttacaatt gagtctgtgg ctgattactt caagcagatt ggtattatta agacaaacaa
     1021 gaaaacggga cagcccatga ttaatttgta cacagacagg gaaactggca agctgaaggg
     1081 agaggcaacg gtctcttttg atgacccacc ttcagctaaa gcagctattg actggtttga
     1141 tggtaaagaa ttctccggaa atcctatcaa ggtctcattt gctactcgcc gggcagactt
     1201 taatcggggt ggtggcaatg gtcgtggagg ccgagggcga ggaggaccca tgggccgtgg
     1261 aggctatgga ggtggtggca gtggtggtgg tggccgagga ggatttccca gtggaggtgg
     1321 tggcggtgga ggacagcagc gagctggtga ctggaagtgt cctaatccca cctgtgagaa
     1381 tatgaacttc tcttggagga atgaatgcaa ccagtgtaag gcccctaaac cagatggccc
     1441 aggaggggga ccaggtggct ctcacatggg gggtaactac ggggatgatc gtcgtggtgg
     1501 cagaggaggc tatgatcgag gcggctaccg gggccgcggc ggggaccgtg gaggcttccg
     1561 agggggccgg ggtggtgggg acagaggtgg ctttggccct ggcaagatgg attccagggg
     1621 tgagcacaga caggatcgca gggagaggcc gtattaatta gcctggctcc ccaggttctg
     1681 gaacagcttt ttgtcctgta cccagtgtta ccctcgttat tttgtaacct tccaattcct
     1741 gatcacccaa gggttttttt gtgtcggact atgtaattgt aactatacct ctggttccca
     1801 ttaaaagtga ccattttagt taaa
//
