LOCUS       NM_012232               3570 bp    mRNA    linear   PRI 01-OCT-2024
DEFINITION  Homo sapiens caveolae associated protein 1 (CAVIN1), mRNA.
ACCESSION   NM_012232
VERSION     NM_012232.6
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 3570)
  AUTHORS   Xiang,H., Wang,M., Chen,Y.F., Wu,H.M., Li,M.G., Guo,L., Zhang,Y.Y.
            and Lu,H.Z.
  TITLE     Regulation of cancer cell ferroptosis by PTRF/Cavin-1
  JOURNAL   Free Radic Res 58 (6-7), 417-429 (2024)
   PUBMED   39079051
  REMARK    GeneRIF: Regulation of cancer cell ferroptosis by PTRF/Cavin-1.
REFERENCE   2  (bases 1 to 3570)
  AUTHORS   Wang,M., Xia,D., Xu,D., Yin,Y., Xu,F., Zhang,B., Li,K., Yang,Z. and
            Zou,J.
  TITLE     Neovascularization directed by CAVIN1/CCBE1/VEGFC confers
            TMZ-resistance in glioblastoma
  JOURNAL   Cancer Lett 582, 216593 (2024)
   PUBMED   38092144
  REMARK    GeneRIF: Neovascularization directed by CAVIN1/CCBE1/VEGFC confers
            TMZ-resistance in glioblastoma.
REFERENCE   3  (bases 1 to 3570)
  AUTHORS   Hao,X., Li,J., Liu,B., Jing,W., Guo,Y., Liu,F., Li,X., Chen,X.,
            Yuan,Y. and Ma,W.
  TITLE     Cavin1 activates the Wnt/beta-catenin pathway to influence the
            proliferation and migration of hepatocellular carcinoma
  JOURNAL   Ann Hepatol 29 (1), 101160 (2024)
   PUBMED   37774837
  REMARK    GeneRIF: Cavin1 activates the Wnt/beta-catenin pathway to influence
            the proliferation and migration of hepatocellular carcinoma.
REFERENCE   4  (bases 1 to 3570)
  AUTHORS   Sun,S., Yang,C., Wang,K., Huang,R., Zhang,K.N., Liu,Y., Cao,Z.,
            Zhao,Z. and Jiang,T.
  TITLE     Molecular and clinical characterization of PTRF in glioma via 1,022
            samples
  JOURNAL   BMC Cancer 23 (1), 551 (2023)
   PUBMED   37322408
  REMARK    GeneRIF: Molecular and clinical characterization of PTRF in glioma
            via 1,022 samples.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3570)
  AUTHORS   Yi,K., Cui,X., Liu,X., Wang,Y., Zhao,J., Yang,S., Xu,C., Yang,E.,
            Xiao,M., Hong,B., Fang,C., Kang,C., Tan,Y. and Wang,Q.
  TITLE     PTRF/Cavin-1 as a Novel RNA-Binding Protein Expedites the
            NF-kappaB/PD-L1 Axis by Stabilizing lncRNA NEAT1, Contributing to
            Tumorigenesis and Immune Evasion in Glioblastoma
  JOURNAL   Front Immunol 12, 802795 (2022)
   PUBMED   35069587
  REMARK    GeneRIF: PTRF/Cavin-1 as a Novel RNA-Binding Protein Expedites the
            NF-kappaB/PD-L1 Axis by Stabilizing lncRNA NEAT1, Contributing to
            Tumorigenesis and Immune Evasion in Glioblastoma.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3570)
  AUTHORS   Zhang,Y., Wolf-Yadlin,A., Ross,P.L., Pappin,D.J., Rush,J.,
            Lauffenburger,D.A. and White,F.M.
  TITLE     Time-resolved mass spectrometry of tyrosine phosphorylation sites
            in the epidermal growth factor receptor signaling network reveals
            dynamic modules
  JOURNAL   Mol Cell Proteomics 4 (9), 1240-1250 (2005)
   PUBMED   15951569
REFERENCE   7  (bases 1 to 3570)
  AUTHORS   Rush,J., Moritz,A., Lee,K.A., Guo,A., Goss,V.L., Spek,E.J.,
            Zhang,H., Zha,X.M., Polakiewicz,R.D. and Comb,M.J.
  TITLE     Immunoaffinity profiling of tyrosine phosphorylation in cancer
            cells
  JOURNAL   Nat Biotechnol 23 (1), 94-101 (2005)
   PUBMED   15592455
REFERENCE   8  (bases 1 to 3570)
  AUTHORS   Aboulaich,N., Vainonen,J.P., Stralfors,P. and Vener,A.V.
  TITLE     Vectorial proteomics reveal targeting, phosphorylation and specific
            fragmentation of polymerase I and transcript release factor (PTRF)
            at the surface of caveolae in human adipocytes
  JOURNAL   Biochem J 383 (Pt 2), 237-248 (2004)
   PUBMED   15242332
  REMARK    GeneRIF: Caveolae of human adipocytes are proposed to function in
            targeting, relocation and proteolytic control of PTRF and other
            PEST-domain-containing signalling proteins
REFERENCE   9  (bases 1 to 3570)
  AUTHORS   Hasegawa,T., Takeuchi,A., Miyaishi,O., Xiao,H., Mao,J. and Isobe,K.
  TITLE     PTRF (polymerase I and transcript-release factor) is
            tissue-specific and interacts with the BFCOL1 (binding factor of a
            type-I collagen promoter) zinc-finger transcription factor which
            binds to the two mouse type-I collagen gene promoters
  JOURNAL   Biochem J 347 Pt 1 (Pt 1), 55-59 (2000)
   PUBMED   10727401
REFERENCE   10 (bases 1 to 3570)
  AUTHORS   Jansa,P., Mason,S.W., Hoffmann-Rohrer,U. and Grummt,I.
  TITLE     Cloning and functional characterization of PTRF, a novel protein
            which induces dissociation of paused ternary transcription
            complexes
  JOURNAL   EMBO J 17 (10), 2855-2864 (1998)
   PUBMED   9582279
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Valerie Delague, Johan den Dunnen, Isabelle
            Richard, James Ware. The reference sequence was derived from
            AF312393.1, BC008849.1, AC107993.9 and AL050224.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_012232.5.
            
            Summary: This gene encodes a protein that enables the dissociation
            of paused ternary polymerase I transcription complexes from the 3'
            end of pre-rRNA transcripts. This protein regulates rRNA
            transcription by promoting the dissociation of transcription
            complexes and the reinitiation of polymerase I on nascent rRNA
            transcripts. This protein also localizes to caveolae at the plasma
            membrane and is thought to play a critical role in the formation of
            caveolae and the stabilization of caveolins. This protein
            translocates from caveolae to the cytoplasm after insulin
            stimulation. Caveolae contain truncated forms of this protein and
            may be the site of phosphorylation-dependent proteolysis. This
            protein is also thought to modify lipid metabolism and
            insulin-regulated gene expression. Mutations in this gene result in
            a disorder characterized by generalized lipodystrophy and muscular
            dystrophy. [provided by RefSeq, Nov 2009].
            
            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 :: BC066123.1, SRR1803613.274006.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357037.6/ ENSP00000349541.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-773               AF312393.1         262-1034
            774-2112            BC008849.1         121-1459
            2113-3517           AC107993.9         74904-76308         c
            3518-3570           AL050224.1         1199-1251
FEATURES             Location/Qualifiers
     source          1..3570
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..3570
                     /gene="CAVIN1"
                     /gene_synonym="CAVIN; cavin-1; CGL4; FKSG13; PTRF"
                     /note="caveolae associated protein 1"
                     /db_xref="GeneID:284119"
                     /db_xref="HGNC:HGNC:9688"
                     /db_xref="MIM:603198"
     exon            1..630
                     /gene="CAVIN1"
                     /gene_synonym="CAVIN; cavin-1; CGL4; FKSG13; PTRF"
                     /inference="alignment:Splign:2.1.0"
     CDS             160..1332
                     /gene="CAVIN1"
                     /gene_synonym="CAVIN; cavin-1; CGL4; FKSG13; PTRF"
                     /note="RNA polymerase I and transcript release factor;
                     TTF-I interacting peptide 12; congenital generalized
                     lipodystrophy 4"
                     /codon_start=1
                     /product="caveolae-associated protein 1"
                     /protein_id="NP_036364.2"
                     /db_xref="CCDS:CCDS11425.1"
                     /db_xref="GeneID:284119"
                     /db_xref="HGNC:HGNC:9688"
                     /db_xref="MIM:603198"
                     /translation="MEDPTLYIVERPLPGYPDAEAPEPSSAGAQAAEEPSGAGSEELI
                     KSDQVNGVLVLSLLDKIIGAVDQIQLTQAQLEERQAEMEGAVQSIQGELSKLGKAHAT
                     TSNTVSKLLEKVRKVSVNVKTVRGSLERQAGQIKKLEVNEAELLRRRNFKVMIYQDEV
                     KLPAKLSISKSLKESEALPEKEGEELGEGERPEEDAAALELSSDEAVEVEEVIEESRA
                     ERIKRSGLRRVDDFKKAFSKEKMEKTKVRTRENLEKTRLKTKENLEKTRHTLEKRMNK
                     LGTRLVPAERREKLKTSRDKLRKSFTPDHVVYARSKTAVYKVPPFTFHVKKIREGQVE
                     VLKATEMVEVGADDDEGGAERGEAGDLRRGSSPDVHALLEITEESDAVLVDKSDSD"
     exon            631..3570
                     /gene="CAVIN1"
                     /gene_synonym="CAVIN; cavin-1; CGL4; FKSG13; PTRF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3547..3552
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAVIN1"
                     /gene_synonym="CAVIN; cavin-1; CGL4; FKSG13; PTRF"
                     /note="hexamer: AATAAA"
     polyA_site      3570
                     /gene="CAVIN1"
                     /gene_synonym="CAVIN; cavin-1; CGL4; FKSG13; PTRF"
                     /note="major polyA site"
ORIGIN      
        1 agttctggcc gctgtcccgg tgcgcacgga cgtggctcga gtttcctctg ctctccgctc
       61 tcgcccgcta gctctcctcc cttccgctcc tgcttctctc cgggtctccc gctccagctc
      121 cagccccacc cggccggtcc cgcacggctc cgggtagcca tggaggaccc cacgctctat
      181 attgtcgagc ggccgcttcc cgggtacccc gacgccgagg ccccggagcc ttcctccgct
      241 ggggctcagg cagcggagga gccgtcgggg gccggctcag aagagctgat caagtcggac
      301 caggtgaacg gcgtgctggt gctgagcctc ctggacaaaa tcatcggggc cgtagaccag
      361 atccagctga ctcaagcaca gctggaggag cggcaggcgg agatggaggg cgcagtgcag
      421 agcatccagg gcgagctgag caagctgggc aaggcgcacg ccaccacgag caatacggtg
      481 agcaagctgc tggagaaggt gcgcaaggtc agcgtcaacg tgaagaccgt gcgcggcagc
      541 ctggagcgcc aggcggggca gatcaagaag ctggaggtca acgaggccga gctgctgcgg
      601 cgccgcaact ttaaagtcat gatctaccag gatgaagtga agctgccggc caaactgagc
      661 atcagcaaat cgctgaaaga gtcggaggcg ctgccagaga aggagggcga ggagctgggc
      721 gagggcgagc ggcccgagga ggacgcagcg gcgctggagc tttcgtcgga cgaggcggtg
      781 gaggttgagg aggttattga ggagtcccgc gcagagcgta tcaagcgcag cggcctgcgg
      841 cgcgtggacg acttcaagaa ggccttctcc aaggagaaga tggagaagac caaggtgcgt
      901 acccgcgaga acctggagaa gacgcgcctc aagaccaagg aaaacctgga gaagacgcgg
      961 cacaccctgg agaagcgcat gaacaagctg ggcacgcgcc tggtgcccgc cgagcggcgc
     1021 gagaaactga agacgtcgcg ggacaagttg cgcaaatcct tcacgcccga ccacgtggtg
     1081 tacgcgcgct ccaagaccgc ggtctacaag gtgccaccct tcaccttcca cgtcaagaag
     1141 atccgcgagg gccaggtgga agtgctcaag gccaccgaga tggtggaggt gggcgccgac
     1201 gacgacgagg gcggcgcgga gcgcggggag gccggcgacc tgcggcgcgg gagcagcccc
     1261 gacgtgcacg cgctgctgga gatcaccgag gagtcggacg ccgtgctggt ggacaagagc
     1321 gacagcgact gagccgcccc cgctgccacc caccccattc ctcgctcctt ccgaacttcc
     1381 tctttcgcat tctctctcgg ctcgagctgg ctgagatttt tctaaattga aaacacgccc
     1441 ccctccccac acctccagga actccactcc cagtcttaga gctgttagga cccgatgggg
     1501 aggcagcccc cgcagtggac aacccccgct tggacacagt ccgagtggaa tgggaaggga
     1561 atggtcaatc cctgtcctgg ttgtccaagt cgggatctca gaggaaattg cagtgattcc
     1621 acggttaggc ccccctgggg gggctgcctt cccctcagcc tctccccaca ccacccaccc
     1681 agctgctgtc attccgctca ctgagctctt cttcattctc accctgatcc ctgggggact
     1741 caaagccaaa actgcccaaa gaggaaagat tgaatcctaa aggggatccc tgcccccatg
     1801 ggaggccccc tactagaagg acgtgaaagc agcttttggg ggaaactgag gcagtgggga
     1861 agacagagca gaatgagccc tcaccctggc tgggggtcca gcacaggctg tatctgcaga
     1921 gggtcccaga ggaacgctgg agccaagaga agccctggga aggaggggtg gggaacgaca
     1981 tgcatgtgag ggatggcaca ctgatgtgtt tatgcacctg tacacaggag cgcatggcca
     2041 tggctttgga aaggagaatg gaaaaataga agaaggtcgg ccgggcttgg tggcttatgc
     2101 ctgtaacccc agcactttgg gaggccgagg tgggcggatc acctgaagtc aggagttcgg
     2161 gaccagcctg gcaaacaccc catctctact aagcgaaaac ccatctctac taaaattaca
     2221 aaaattagct gggcatggtt gcgcatgcct gtaatcccag ctactttgga ggctgaggtg
     2281 gggagaattg cttgaacctg ggaggtggag gttgcagtga gccaaggtcg cgacactgca
     2341 ctccagcctg ggtgacagag tgagactcca tctcaacaga aggaaaaaaa aggaaaatag
     2401 gagaaggtgg aaatgggtga agagagaagt cccctcacta gctgcatgag aaatctatct
     2461 tactgtggtt ctccatgggc agcaggacca tttttcagaa tcaagaggga ggacagtgtg
     2521 agaaggcgat gatccaaaga agacagagag gtcagcccca cccgatccct caaatgggct
     2581 cttggaggca cccccagggg cagcccattt ctcaaagtcc agaaaattag ggtcccagaa
     2641 gggggcagca gcaggctggg agttaggagg gagagcaggg tgccggccct gccaccaagt
     2701 tgagagctgg aggggaggtg gggagagaac atcacagagc agccagccct ggttcactcc
     2761 tggcagtttc ttctcaagct ccttccctag gagcatggtg gcacgtgcct gtggtctcag
     2821 ctacttggga ggctgaggcg ggaggatcgc cagagcccag gagtttgagg ctgcagtgag
     2881 ctatgagggt gcctctgtgc tccatcctag gcaacagagt gatacgctgt ttaaaaagga
     2941 aaaaatcctt ccctagagct agtatcctaa agctgcagag ctagcccaga cctcattggt
     3001 ttccttgtcc ttggggtgct tttcctgaat ctttgcgggt gaagggagtg ttgctcccag
     3061 tccagaggcc tgattctgtt tggactgggt tctcaagaca cgaccaggtt ctcaagacac
     3121 gagtcccctt gttcctcccc attaaagggg gtttgtcaga agcaagaaca gcccctctcc
     3181 ccagtcacag cctgaaggga ggccccgaga gcttcctcct tccccccacc tgctccttac
     3241 cttctctgcc ctgcttttta gaactgcagt tcattgtttt aagggattgg gggagggagc
     3301 ctggggacac aaacctttta tacaatacaa agctttgctt tttttttttt tttcttcctt
     3361 ttccctttct cggttctctt ctctcctctg aatggctgaa gacccctctg ccgagggagg
     3421 ttggggattg tgggacaagg tcccttggtg ctgatggcct gaaggggcct gagctgtggg
     3481 cagatgcagt tttctgtggg cttggggaac ctctcacgtt gctgtgtcct ggtgagcagc
     3541 ccgaccaata aacctgcttt tctaaaagga
//
