LOCUS       NM_024083               1764 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens ASPSCR1 tether for SLC2A4, UBX domain containing
            (ASPSCR1), transcript variant 1, mRNA.
ACCESSION   NM_024083 XM_941362
VERSION     NM_024083.4
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 1764)
  AUTHORS   Zhang,L., Jiao,K., Liu,Y., Xu,G., Yang,Z., Xiang,L., Chen,Z.,
            Xu,C., Zuo,Y., Wu,Z., Zheng,N., Zhang,X., Xia,Q. and Liu,Y.
  TITLE     UBXN9 inhibits the RNA exosome function to promote T cell control
            of liver tumorigenesis
  JOURNAL   Hepatology 80 (5), 1041-1057 (2024)
   PUBMED   38051955
  REMARK    GeneRIF: UBXN9 inhibits the RNA exosome function to promote T cell
            control of liver tumorigenesis.
REFERENCE   2  (bases 1 to 1764)
  AUTHORS   Zhao,M., Huang,Y., Yin,X., Xu,J., Sun,Y. and Wang,J.
  TITLE     PEComa with ASPSCR1::TFE3 fusion: expanding the molecular genetic
            spectrum of TFE3-rearranged PEComa with an emphasis on overlap with
            alveolar soft part sarcoma
  JOURNAL   Histopathology 84 (3), 482-491 (2024)
   PUBMED   37936565
  REMARK    GeneRIF: PEComa with ASPSCR1::TFE3 fusion: expanding the molecular
            genetic spectrum of TFE3-rearranged PEComa with an emphasis on
            overlap with alveolar soft part sarcoma.
REFERENCE   3  (bases 1 to 1764)
  AUTHORS   Huang,P., Abacka,H., Varela,D., Venskutonyte,R., Happonen,L.,
            Bogan,J.S., Gourdon,P., Amiry-Moghaddam,M.R., Andre,I. and
            Lindkvist-Petersson,K.
  TITLE     The intracellular helical bundle of human glucose transporter GLUT4
            is important for complex formation with ASPL
  JOURNAL   FEBS Open Bio 13 (11), 2094-2107 (2023)
   PUBMED   37731227
  REMARK    GeneRIF: The intracellular helical bundle of human glucose
            transporter GLUT4 is important for complex formation with ASPL.
REFERENCE   4  (bases 1 to 1764)
  AUTHORS   Petrovic,S., Roske,Y., Rami,B., Phan,M.H.Q., Panakova,D. and
            Heinemann,U.
  TITLE     Structural remodeling of AAA+ ATPase p97 by adaptor protein ASPL
            facilitates posttranslational methylation by METTL21D
  JOURNAL   Proc Natl Acad Sci U S A 120 (4), e2208941120 (2023)
   PUBMED   36656859
  REMARK    GeneRIF: Structural remodeling of AAA+ ATPase p97 by adaptor
            protein ASPL facilitates posttranslational methylation by METTL21D.
REFERENCE   5  (bases 1 to 1764)
  AUTHORS   Bogan,J.S.
  TITLE     Ubiquitin-like processing of TUG proteins as a mechanism to
            regulate glucose uptake and energy metabolism in fat and muscle
  JOURNAL   Front Endocrinol (Lausanne) 13, 1019405 (2022)
   PUBMED   36246906
  REMARK    GeneRIF: Ubiquitin-like processing of TUG proteins as a mechanism
            to regulate glucose uptake and energy metabolism in fat and muscle.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1764)
  AUTHORS   Bogan,J.S., Hendon,N., McKee,A.E., Tsao,T.S. and Lodish,H.F.
  TITLE     Functional cloning of TUG as a regulator of GLUT4 glucose
            transporter trafficking
  JOURNAL   Nature 425 (6959), 727-733 (2003)
   PUBMED   14562105
REFERENCE   7  (bases 1 to 1764)
  AUTHORS   Argani,P., Antonescu,C.R., Illei,P.B., Lui,M.Y., Timmons,C.F.,
            Newbury,R., Reuter,V.E., Garvin,A.J., Perez-Atayde,A.R.,
            Fletcher,J.A., Beckwith,J.B., Bridge,J.A. and Ladanyi,M.
  TITLE     Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar
            soft part sarcoma: a distinctive tumor entity previously included
            among renal cell carcinomas of children and adolescents
  JOURNAL   Am J Pathol 159 (1), 179-192 (2001)
   PUBMED   11438465
REFERENCE   8  (bases 1 to 1764)
  AUTHORS   Heimann,P., El Housni,H., Ogur,G., Weterman,M.A., Petty,E.M. and
            Vassart,G.
  TITLE     Fusion of a novel gene, RCC17, to the TFE3 gene in
            t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas
  JOURNAL   Cancer Res 61 (10), 4130-4135 (2001)
   PUBMED   11358836
REFERENCE   9  (bases 1 to 1764)
  AUTHORS   Ladanyi,M., Lui,M.Y., Antonescu,C.R., Krause-Boehm,A., Meindl,A.,
            Argani,P., Healey,J.H., Ueda,T., Yoshikawa,H., Meloni-Ehrig,A.,
            Sorensen,P.H., Mertens,F., Mandahl,N., van den Berghe,H., Sciot,R.,
            Dal Cin,P. and Bridge,J.
  TITLE     The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma
            fuses the TFE3 transcription factor gene to ASPL, a novel gene at
            17q25
  JOURNAL   Oncogene 20 (1), 48-57 (2001)
   PUBMED   11244503
REFERENCE   10 (bases 1 to 1764)
  AUTHORS   Joyama,S., Ueda,T., Shimizu,K., Kudawara,I., Mano,M., Funai,H.,
            Takemura,K. and Yoshikawa,H.
  TITLE     Chromosome rearrangement at 17q25 and xp11.2 in alveolar soft-part
            sarcoma: A case report and review of the literature
  JOURNAL   Cancer 86 (7), 1246-1250 (1999)
   PUBMED   10506710
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF324219.2 and AK290624.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_024083.3.
            
            Summary: The protein encoded by this gene contains a UBX domain and
            interacts with glucose transporter type 4 (GLUT4). This protein is
            a tether, which sequesters the GLUT4 in intracellular vesicles in
            muscle and fat cells in the absence of insulin, and redistributes
            the GLUT4 to the plasma membrane within minutes of insulin
            stimulation. Translocation t(X;17)(p11;q25) of this gene with
            transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion
            protein in alveolar soft part sarcoma and in renal cell carcinomas.
            Multiple alternatively spliced transcript variants have been found.
            [provided by RefSeq, Oct 2011].
            
            Transcript Variant: This variant (1) encodes the predominant
            protein (isoform 1).
            
            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 :: AF324219.2, AK290624.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306739.9/ ENSP00000302176.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1478              AF324219.2         5-1482
            1479-1762           AK290624.1         1474-1757
            1763-1764           AF324219.2         1767-1768
FEATURES             Location/Qualifiers
     source          1..1764
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..1764
                     /gene="ASPSCR1"
                     /gene_synonym="ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9;
                     UBXN9"
                     /note="ASPSCR1 tether for SLC2A4, UBX domain containing"
                     /db_xref="GeneID:79058"
                     /db_xref="HGNC:HGNC:13825"
                     /db_xref="MIM:606236"
     exon            1..120
                     /gene="ASPSCR1"
                     /gene_synonym="ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9;
                     UBXN9"
                     /inference="alignment:Splign:2.1.0"
     CDS             19..1680
                     /gene="ASPSCR1"
                     /gene_synonym="ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9;
                     UBXN9"
                     /note="isoform 1 is encoded by transcript variant 1; renal
                     cell carcinoma gene on chromosome 17; UBX domain protein
                     9; renal cell carcinoma, papillary, 17; alveolar soft part
                     sarcoma chromosome region, candidate 1; tether containing
                     UBX domain for GLUT4; UBX domain-containing protein 9;
                     alveolar soft part sarcoma locus; ASPSCR1, UBX domain
                     containing tether for SLC2A4; renal papillary cell
                     carcinoma protein 17; alveolar soft part sarcoma
                     chromosomal region candidate gene 1 protein"
                     /codon_start=1
                     /product="tether containing UBX domain for GLUT4 isoform
                     1"
                     /protein_id="NP_076988.1"
                     /db_xref="CCDS:CCDS11796.1"
                     /db_xref="GeneID:79058"
                     /db_xref="HGNC:HGNC:13825"
                     /db_xref="MIM:606236"
                     /translation="MAAPAGGGGSAVSVLAPNGRRHTVKVTPSTVLLQVLEDTCRRQD
                     FNPCEYDLKFQRSVLDLSLQWRFANLPNNAKLEMVPASRSREGPENMVRIALQLDDGS
                     RLQDSFCSGQTLWELLSHFPQIRECLQHPGGATPVCVYTRDEVTGEAALRGTTLQSLG
                     LTGGSATIRFVMKCYDPVGKTPGSLGSSASAGQAAASAPLPLESGELSRGDLSRPEDA
                     DTSGPCCEHTQEKQSTRAPAAAPFVPFSGGGQRLGGPPGPTRPLTSSSAKLPKSLSSP
                     GGPSKPKKSKSGQDPQQEQEQERERDPQQEQERERPVDREPVDREPVVCHPDLEERLQ
                     AWPAELPDEFFELTVDDVRRRLAQLKSERKRLEEAPLVTKAFREAQIKEKLERYPKVA
                     LRVLFPDRYVLQGFFRPSETVGDLRDFVRSHLGNPELSFYLFITPPKTVLDDHTQTLF
                     QANLFPAALVHLGAEEPAGVYLEPGLLEHAISPSAADVLVARYMSRAAGSPSPLPAPD
                     PAPKSEPAAEEGALVPPEPIPGTAQPVKRSLGKVPKWLKLPASKR"
     exon            121..176
                     /gene="ASPSCR1"
                     /gene_synonym="ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9;
                     UBXN9"
                     /inference="alignment:Splign:2.1.0"
     exon            177..291
                     /gene="ASPSCR1"
                     /gene_synonym="ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9;
                     UBXN9"
                     /inference="alignment:Splign:2.1.0"
     exon            292..392
                     /gene="ASPSCR1"
                     /gene_synonym="ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9;
                     UBXN9"
                     /inference="alignment:Splign:2.1.0"
     exon            393..450
                     /gene="ASPSCR1"
                     /gene_synonym="ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9;
                     UBXN9"
                     /inference="alignment:Splign:2.1.0"
     exon            451..524
                     /gene="ASPSCR1"
                     /gene_synonym="ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9;
                     UBXN9"
                     /inference="alignment:Splign:2.1.0"
     exon            525..951
                     /gene="ASPSCR1"
                     /gene_synonym="ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9;
                     UBXN9"
                     /inference="alignment:Splign:2.1.0"
     exon            952..1106
                     /gene="ASPSCR1"
                     /gene_synonym="ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9;
                     UBXN9"
                     /inference="alignment:Splign:2.1.0"
     exon            1107..1188
                     /gene="ASPSCR1"
                     /gene_synonym="ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9;
                     UBXN9"
                     /inference="alignment:Splign:2.1.0"
     exon            1189..1255
                     /gene="ASPSCR1"
                     /gene_synonym="ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9;
                     UBXN9"
                     /inference="alignment:Splign:2.1.0"
     exon            1256..1318
                     /gene="ASPSCR1"
                     /gene_synonym="ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9;
                     UBXN9"
                     /inference="alignment:Splign:2.1.0"
     exon            1319..1371
                     /gene="ASPSCR1"
                     /gene_synonym="ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9;
                     UBXN9"
                     /inference="alignment:Splign:2.1.0"
     exon            1372..1423
                     /gene="ASPSCR1"
                     /gene_synonym="ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9;
                     UBXN9"
                     /inference="alignment:Splign:2.1.0"
     exon            1424..1493
                     /gene="ASPSCR1"
                     /gene_synonym="ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9;
                     UBXN9"
                     /inference="alignment:Splign:2.1.0"
     exon            1494..1666
                     /gene="ASPSCR1"
                     /gene_synonym="ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9;
                     UBXN9"
                     /inference="alignment:Splign:2.1.0"
     exon            1667..1764
                     /gene="ASPSCR1"
                     /gene_synonym="ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9;
                     UBXN9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1741..1746
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASPSCR1"
                     /gene_synonym="ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9;
                     UBXN9"
                     /note="hexamer: AATAAA"
     polyA_site      1764
                     /gene="ASPSCR1"
                     /gene_synonym="ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9;
                     UBXN9"
                     /note="major polyA site"
ORIGIN      
        1 gggtcacgtg agcggaaaat ggcggccccg gcaggcggcg gaggctccgc ggtgtcggtg
       61 ctggccccga acggccggcg ccacacggtg aaggtgacgc cgagcaccgt gctgcttcag
      121 gttctggagg acacgtgccg gcggcaggac ttcaacccct gtgaatatga tctgaagttt
      181 cagaggagcg tgctcgacct ttctctccag tggagatttg ccaacctgcc caacaatgcc
      241 aagctggaga tggtgcccgc ttcccggagc cgtgaggggc ctgagaacat ggttcgcatc
      301 gctttgcagc tggacgatgg ctcgaggttg caggactctt tctgttcagg ccagaccctc
      361 tgggagcttc tcagccattt tccacagatc agggagtgcc tgcagcaccc cggcggggcc
      421 accccagtct gcgtgtacac gagggatgag gtgacgggtg aagctgccct gcggggcacg
      481 acgctgcagt cgctgggcct gaccgggggc agcgccacca tcaggtttgt catgaagtgc
      541 tacgaccccg tgggcaagac cccaggaagc ctgggctcgt cagcgtcggc tggccaggca
      601 gccgccagcg ctccacttcc cttggaatct ggggagctca gccgcggcga cttgagccgt
      661 ccggaggacg cggacacctc agggccctgc tgcgagcaca ctcaggagaa gcagagcaca
      721 agggcacccg cagctgcccc ctttgttcct ttctcgggtg ggggacagag actggggggc
      781 cctcctgggc ccacgaggcc tctgacatca tcttcagcta agttgccgaa gtccctctcc
      841 agccctggag gcccctccaa gccaaagaag tccaagtcgg gccaggatcc ccagcaggag
      901 caggagcagg agcgggagcg ggatccccag caggagcagg agcgggagcg gcccgtggac
      961 cgggagcccg tggaccggga gccggtggtg tgccaccccg acctggagga gcggctgcag
     1021 gcctggccag cggagctgcc tgatgagttc tttgagctga cggtggacga cgtgagaaga
     1081 cgcttggccc agctcaagag tgagcggaag cgcctggaag aagccccctt ggtgaccaag
     1141 gccttcaggg aggcgcagat aaaggagaag ctggagcgct acccaaaggt ggctctgagg
     1201 gtcctgttcc ccgaccgcta cgtcctacag ggcttcttcc gccccagcga gacagtgggg
     1261 gacttgcgag acttcgtgag gagccacctg gggaaccccg agctgtcatt ttacctgttc
     1321 atcacccctc caaaaacagt cctggacgac cacacgcaga ccctctttca ggcgaacctc
     1381 ttcccggccg ctctggtgca cttgggagcc gaggagccgg caggtgtcta cctggagcct
     1441 ggcctgctgg agcatgccat ctccccatct gcggccgatg tgctggtggc caggtacatg
     1501 tccagggccg ccgggtcccc ttccccattg ccagcccctg accctgcacc taagtctgag
     1561 ccagctgctg aggagggggc gctggtcccc cctgagccca tcccagggac ggcccagccc
     1621 gtgaagagga gcctgggcaa ggtgcccaag tggctgaagc tgccggccag caagaggtga
     1681 gagctgccag cctgaggtgc ccactccgcc agccacagga ccacctcctc tgccagcagg
     1741 aataaagact tgtgcatccc tcaa
//
