LOCUS       NM_003707               1899 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens RuvB like AAA ATPase 1 (RUVBL1), transcript variant 1,
            mRNA.
ACCESSION   NM_003707 XM_939707
VERSION     NM_003707.3
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 1899)
  AUTHORS   Chen,D., Ji,F., Zhou,Q., Cheung,H., Pan,Y., Lau,H.C., Liang,C.,
            Yang,Z., Huang,P., Wei,Q., Cheung,A.H., Kang,W., Chen,H., Yu,J. and
            Wong,C.C.
  TITLE     RUVBL1/2 Blockade Targets YTHDF1 Activity to Suppress m6A-Dependent
            Oncogenic Translation and Colorectal Tumorigenesis
  JOURNAL   Cancer Res 84 (17), 2856-2872 (2024)
   PUBMED   38900944
  REMARK    GeneRIF: RUVBL1/2 Blockade Targets YTHDF1 Activity to Suppress
            m6A-Dependent Oncogenic Translation and Colorectal Tumorigenesis.
REFERENCE   2  (bases 1 to 1899)
  AUTHORS   Zemke,N.R., Hsu,E., Barshop,W.D., Sha,J., Wohlschlegel,J.A. and
            Berk,A.J.
  TITLE     Adenovirus E1A binding to DCAF10 targets proteasomal degradation of
            RUVBL1/2 AAA+ ATPases required for quaternary assembly of
            multiprotein machines, innate immunity, and responses to metabolic
            stress
  JOURNAL   J Virol 97 (12), e0099323 (2023)
   PUBMED   37962355
  REMARK    GeneRIF: Adenovirus E1A binding to DCAF10 targets proteasomal
            degradation of RUVBL1/2 AAA+ ATPases required for quaternary
            assembly of multiprotein machines, innate immunity, and responses
            to metabolic stress.
REFERENCE   3  (bases 1 to 1899)
  AUTHORS   Tian,Y., Dong,D., Wang,Z., Wu,L., Park,J.Y., Wei,G.H. and Wang,L.
  CONSRTM   PRACTICAL consortium
  TITLE     Combined CRISPRi and proteomics screening reveal a
            cohesin-CTCF-bound allele contributing to increased expression of
            RUVBL1 and prostate cancer progression
  JOURNAL   Am J Hum Genet 110 (8), 1289-1303 (2023)
   PUBMED   37541187
  REMARK    GeneRIF: Combined CRISPRi and proteomics screening reveal a
            cohesin-CTCF-bound allele contributing to increased expression of
            RUVBL1 and prostate cancer progression.
REFERENCE   4  (bases 1 to 1899)
  AUTHORS   Li,X., Li,H., Shao,M.M., Miao,J., Fu,Y. and Hu,B.
  TITLE     Downregulation of AHNAK2 inhibits cell cycle of lung adenocarcinoma
            cells by interacting with RUVBL1
  JOURNAL   Thorac Cancer 14 (22), 2093-2104 (2023)
   PUBMED   37349884
  REMARK    GeneRIF: Downregulation of AHNAK2 inhibits cell cycle of lung
            adenocarcinoma cells by interacting with RUVBL1.
REFERENCE   5  (bases 1 to 1899)
  AUTHORS   Li,M., Yang,L., Chan,A.K.N., Pokharel,S.P., Liu,Q., Mattson,N.,
            Xu,X., Chang,W.H., Miyashita,K., Singh,P., Zhang,L., Li,M., Wu,J.,
            Wang,J., Chen,B., Chan,L.N., Lee,J., Zhang,X.H., Rosen,S.T.,
            Muschen,M., Qi,J., Chen,J., Hiom,K., Bishop,A.J.R. and Chen,C.W.
  TITLE     Epigenetic Control of Translation Checkpoint and Tumor Progression
            via RUVBL1-EEF1A1 Axis
  JOURNAL   Adv Sci (Weinh) 10 (17), e2206584 (2023)
   PUBMED   37075745
  REMARK    GeneRIF: Epigenetic Control of Translation Checkpoint and Tumor
            Progression via RUVBL1-EEF1A1 Axis.
REFERENCE   6  (bases 1 to 1899)
  AUTHORS   Queval,R., Papin,C., Dalvai,M., Bystricky,K. and Humbert,O.
  TITLE     Reptin and Pontin oligomerization and activity are modulated
            through histone H3 N-terminal tail interaction
  JOURNAL   J Biol Chem 289 (49), 33999-34012 (2014)
   PUBMED   25336637
  REMARK    GeneRIF: Reptin and Pontin oligomerization and activity are
            modulated through histone H3 N-terminal tail interaction.
REFERENCE   7  (bases 1 to 1899)
  AUTHORS   Qiu,X.B., Lin,Y.L., Thome,K.C., Pian,P., Schlegel,B.P.,
            Weremowicz,S., Parvin,J.D. and Dutta,A.
  TITLE     An eukaryotic RuvB-like protein (RUVBL1) essential for growth
  JOURNAL   J Biol Chem 273 (43), 27786-27793 (1998)
   PUBMED   9774387
REFERENCE   8  (bases 1 to 1899)
  AUTHORS   Makino,Y., Mimori,T., Koike,C., Kanemaki,M., Kurokawa,Y., Inoue,S.,
            Kishimoto,T. and Tamura,T.
  TITLE     TIP49, homologous to the bacterial DNA helicase RuvB, acts as an
            autoantigen in human
  JOURNAL   Biochem Biophys Res Commun 245 (3), 819-823 (1998)
   PUBMED   9588198
REFERENCE   9  (bases 1 to 1899)
  AUTHORS   Kanemaki,M., Makino,Y., Yoshida,T., Kishimoto,T., Koga,A.,
            Yamamoto,K., Yamamoto,M., Moncollin,V., Egly,J.M., Muramatsu,M. and
            Tamura,T.
  TITLE     Molecular cloning of a rat 49-kDa TBP-interacting protein (TIP49)
            that is highly homologous to the bacterial RuvB
  JOURNAL   Biochem Biophys Res Commun 235 (1), 64-68 (1997)
   PUBMED   9196036
REFERENCE   10 (bases 1 to 1899)
  AUTHORS   Dawson,S.J. and White,L.A.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA530328.1, BC002993.1,
            AW069473.1 and AC069419.20.
            
            On May 17, 2019 this sequence version replaced NM_003707.2.
            
            Summary: This gene encodes a protein that has both DNA-dependent
            ATPase and DNA helicase activities and belongs to the ATPases
            associated with diverse cellular activities (AAA+) protein family.
            The encoded protein associates with several multisubunit
            transcriptional complexes and with protein complexes involved in
            both ATP-dependent remodeling and histone modification. Alternate
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: GQ891468.1, BC002993.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000322623.10/ ENSP00000318297.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                DA530328.1         17-33
            18-1746             BC002993.1         1-1729
            1747-1752           AW069473.1         18-23               c
            1753-1899           AC069419.20        58860-59006
FEATURES             Location/Qualifiers
     source          1..1899
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q21.3"
     gene            1..1899
                     /gene="RUVBL1"
                     /gene_synonym="ECP-54; ECP54; INO80H; NMP 238; NMP238;
                     PONTIN; Pontin52; RVB1; TIH1; TIP49; TIP49A"
                     /note="RuvB like AAA ATPase 1"
                     /db_xref="GeneID:8607"
                     /db_xref="HGNC:HGNC:10474"
                     /db_xref="MIM:603449"
     exon            1..229
                     /gene="RUVBL1"
                     /gene_synonym="ECP-54; ECP54; INO80H; NMP 238; NMP238;
                     PONTIN; Pontin52; RVB1; TIH1; TIP49; TIP49A"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..1459
                     /gene="RUVBL1"
                     /gene_synonym="ECP-54; ECP54; INO80H; NMP 238; NMP238;
                     PONTIN; Pontin52; RVB1; TIH1; TIP49; TIP49A"
                     /EC_number="3.6.4.12"
                     /note="isoform 1 is encoded by transcript variant 1; TATA
                     binding protein interacting protein 49 kDa; RuvB (E coli
                     homolog)-like 1; INO80 complex subunit H; TAP54-alpha;
                     nuclear matrix protein 238; pontin 52; 49 kDa
                     TBP-interacting protein; TIP60-associated protein
                     54-alpha; 54 kDa erythrocyte cytosolic protein; 49 kDa
                     TATA box-binding protein-interacting protein; RuvB-like
                     AAA ATPase; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="ruvB-like 1 isoform 1"
                     /protein_id="NP_003698.1"
                     /db_xref="CCDS:CCDS3047.1"
                     /db_xref="GeneID:8607"
                     /db_xref="HGNC:HGNC:10474"
                     /db_xref="MIM:603449"
                     /translation="MKIEEVKSTTKTQRIASHSHVKGLGLDESGLAKQAASGLVGQEN
                     AREACGVIVELIKSKKMAGRAVLLAGPPGTGKTALALAIAQELGSKVPFCPMVGSEVY
                     STEIKKTEVLMENFRRAIGLRIKETKEVYEGEVTELTPCETENPMGGYGKTISHVIIG
                     LKTAKGTKQLKLDPSIFESLQKERVEAGDVIYIEANSGAVKRQGRCDTYATEFDLEAE
                     EYVPLPKGDVHKKKEIIQDVTLHDLDVANARPQGGQDILSMMGQLMKPKKTEITDKLR
                     GEINKVVNKYIDQGIAELVPGVLFVDEVHMLDIECFTYLHRALESSIAPIVIFASNRG
                     NCVIRGTEDITSPHGIPLDLLDRVMIIRTMLYTPQEMKQIIKIRAQTEGINISEEALN
                     HLGEIGTKTTLRYSVQLLTPANLLAKINGKDSIEKEHVEEISELFYDAKSSAKILADQ
                     QDKYMK"
     exon            230..316
                     /gene="RUVBL1"
                     /gene_synonym="ECP-54; ECP54; INO80H; NMP 238; NMP238;
                     PONTIN; Pontin52; RVB1; TIH1; TIP49; TIP49A"
                     /inference="alignment:Splign:2.1.0"
     exon            317..449
                     /gene="RUVBL1"
                     /gene_synonym="ECP-54; ECP54; INO80H; NMP 238; NMP238;
                     PONTIN; Pontin52; RVB1; TIH1; TIP49; TIP49A"
                     /inference="alignment:Splign:2.1.0"
     exon            450..601
                     /gene="RUVBL1"
                     /gene_synonym="ECP-54; ECP54; INO80H; NMP 238; NMP238;
                     PONTIN; Pontin52; RVB1; TIH1; TIP49; TIP49A"
                     /inference="alignment:Splign:2.1.0"
     exon            602..691
                     /gene="RUVBL1"
                     /gene_synonym="ECP-54; ECP54; INO80H; NMP 238; NMP238;
                     PONTIN; Pontin52; RVB1; TIH1; TIP49; TIP49A"
                     /inference="alignment:Splign:2.1.0"
     exon            692..841
                     /gene="RUVBL1"
                     /gene_synonym="ECP-54; ECP54; INO80H; NMP 238; NMP238;
                     PONTIN; Pontin52; RVB1; TIH1; TIP49; TIP49A"
                     /inference="alignment:Splign:2.1.0"
     exon            842..905
                     /gene="RUVBL1"
                     /gene_synonym="ECP-54; ECP54; INO80H; NMP 238; NMP238;
                     PONTIN; Pontin52; RVB1; TIH1; TIP49; TIP49A"
                     /inference="alignment:Splign:2.1.0"
     exon            906..1104
                     /gene="RUVBL1"
                     /gene_synonym="ECP-54; ECP54; INO80H; NMP 238; NMP238;
                     PONTIN; Pontin52; RVB1; TIH1; TIP49; TIP49A"
                     /inference="alignment:Splign:2.1.0"
     exon            1105..1207
                     /gene="RUVBL1"
                     /gene_synonym="ECP-54; ECP54; INO80H; NMP 238; NMP238;
                     PONTIN; Pontin52; RVB1; TIH1; TIP49; TIP49A"
                     /inference="alignment:Splign:2.1.0"
     exon            1208..1299
                     /gene="RUVBL1"
                     /gene_synonym="ECP-54; ECP54; INO80H; NMP 238; NMP238;
                     PONTIN; Pontin52; RVB1; TIH1; TIP49; TIP49A"
                     /inference="alignment:Splign:2.1.0"
     exon            1300..1899
                     /gene="RUVBL1"
                     /gene_synonym="ECP-54; ECP54; INO80H; NMP 238; NMP238;
                     PONTIN; Pontin52; RVB1; TIH1; TIP49; TIP49A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1729..1734
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RUVBL1"
                     /gene_synonym="ECP-54; ECP54; INO80H; NMP 238; NMP238;
                     PONTIN; Pontin52; RVB1; TIH1; TIP49; TIP49A"
                     /note="hexamer: AATAAA"
     polyA_site      1749
                     /gene="RUVBL1"
                     /gene_synonym="ECP-54; ECP54; INO80H; NMP 238; NMP238;
                     PONTIN; Pontin52; RVB1; TIH1; TIP49; TIP49A"
                     /note="major polyA site"
ORIGIN      
        1 agtaacggcc gcatggtaac tcaggcgccg ggcgcactgt cctagctgct ggttttccac
       61 gctggtttta gctcccggcg tctgcaaaat gaagattgag gaggtgaaga gcactacgaa
      121 gacgcagcgc atcgcctccc acagccacgt gaaagggctg gggctggacg agagcggctt
      181 ggccaagcag gcggcctcag ggcttgtggg ccaggagaac gcgcgagagg catgtggcgt
      241 catagtagaa ttaatcaaaa gcaagaaaat ggctggaaga gctgtcttgt tggcaggacc
      301 tcctggaact ggcaagacag ctctggctct ggctattgct caggagctgg gtagtaaggt
      361 ccccttctgc ccaatggtgg ggagtgaagt ttactcaact gagatcaaga agacagaggt
      421 gctgatggag aacttccgca gggccattgg gctgcgaata aaggagacca aggaagttta
      481 tgaaggtgaa gtcacagagc taactccgtg tgagacagag aatcccatgg gaggatatgg
      541 caaaaccatt agccatgtga tcataggact caaaacagcc aaaggaacca aacagttgaa
      601 actggacccc agcatttttg aaagtttgca gaaagagcga gtagaagctg gagatgtgat
      661 ttacattgaa gccaacagtg gggccgtgaa gaggcagggc aggtgtgata cctatgccac
      721 agaattcgac cttgaagctg aagagtatgt ccccttgcca aaaggggatg tgcacaaaaa
      781 gaaagaaatc atccaagatg tgaccttgca tgacttggat gtggctaatg cgcggcccca
      841 ggggggacaa gatatcctgt ccatgatggg ccagctaatg aagccaaaga agacagaaat
      901 cacagacaaa cttcgagggg agattaataa ggtggtgaac aagtacatcg accagggcat
      961 tgctgagctg gtcccgggtg tgctgtttgt tgatgaggtc cacatgctgg acattgagtg
     1021 cttcacctac ctgcaccgcg ccctggagtc ttctatcgct cccatcgtca tctttgcatc
     1081 caaccgaggc aactgtgtca tcagaggcac tgaggacatc acatcccctc acggcatccc
     1141 tcttgacctt ctggaccgag tgatgataat ccggaccatg ctgtatactc cacaggaaat
     1201 gaaacagatc attaaaatcc gtgcccagac ggaaggaatc aacatcagtg aggaggcact
     1261 gaaccacctg ggggagattg gcaccaagac cacactgagg tactcagtgc agctgctgac
     1321 cccggccaac ttgcttgcta aaatcaacgg gaaggacagc attgagaaag agcatgtcga
     1381 agagatcagt gaacttttct atgatgccaa gtcctccgcc aaaatcctgg ctgaccagca
     1441 ggataagtac atgaagtgag atggctgagg ttttcagcag taagagactc cccaggtgtg
     1501 cctggcctgg gtccagcctg tgggcgcttg cccctgggct tggggctgcc gtccccactc
     1561 aggcgtggtc tgcagcgctg tcagttcagt gtggaaagca tttcttttta agttatcgta
     1621 actgttcctg tggttgcttt gaaagaaccc ttccttacct ggtgtgtttt ctataaatct
     1681 tcataggtta ttttgattct ctctctctct ctctctaagt tttttaaaaa taaacttttc
     1741 agaacagttt tagatgtaca gagtcattgt gaacatacaa tagggagttc ccatgtatct
     1801 tgtacccagt ttcccttctt gttaacgtgt tacatcagat agcacatttg tcaccgtgaa
     1861 tgaccaatac tgatgcatta ttctactgcg ttcacattt
//
