LOCUS       NM_199133               2651 bp    mRNA    linear   PRI 19-DEC-2024
DEFINITION  Homo sapiens ATP synthase c subunit lysine N-methyltransferase
            (ATPSCKMT), transcript variant 1, mRNA.
ACCESSION   NM_199133 XM_059691
VERSION     NM_199133.4
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 2651)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 2651)
  AUTHORS   Palada,V., Siddiqah Ahmed,A., Hugo,A., Radojcic,M.R., Svensson,C.I.
            and Kosek,E.
  TITLE     Expression of mitochondrial TSPO and FAM173B is associated with
            inflammation and symptoms in patients with painful knee
            osteoarthritis
  JOURNAL   Rheumatology (Oxford) 60 (4), 1724-1733 (2021)
   PUBMED   33067627
  REMARK    GeneRIF: Expression of mitochondrial TSPO and FAM173B is associated
            with inflammation and symptoms in patients with painful knee
            osteoarthritis.
REFERENCE   3  (bases 1 to 2651)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2651)
  AUTHORS   Malecki,J.M., Willemen,H.L.D.M., Pinto,R., Ho,A.Y.Y., Moen,A.,
            Kjonstad,I.F., Burgering,B.M.T., Zwartkruis,F., Eijkelkamp,N. and
            Falnes,P.O.
  TITLE     Lysine methylation by the mitochondrial methyltransferase FAM173B
            optimizes the function of mitochondrial ATP synthase
  JOURNAL   J Biol Chem 294 (4), 1128-1141 (2019)
   PUBMED   30530489
  REMARK    GeneRIF: It has been identified FAM173B as the long-sought KMT
            responsible for methylation of ATP synthase c-subunit (ATPSc), a
            key protein in cellular ATP production, and have demonstrated
            functional significance of ATPSc methylation.
REFERENCE   5  (bases 1 to 2651)
  AUTHORS   Willemen,H.L.D.M., Kavelaars,A., Prado,J., Maas,M., Versteeg,S.,
            Nellissen,L.J.J., Tromp,J., Gonzalez Cano,R., Zhou,W.,
            Jakobsson,M.E., Malecki,J., Posthuma,G., Habib,A.M., Heijnen,C.J.,
            Falnes,P.O. and Eijkelkamp,N.
  TITLE     Identification of FAM173B as a protein methyltransferase promoting
            chronic pain
  JOURNAL   PLoS Biol 16 (2), e2003452 (2018)
   PUBMED   29444090
  REMARK    GeneRIF: we uncover a role for methyltransferase activity of
            FAM173B in the neurobiology of pain. These results also highlight
            FAM173B methyltransferase activity as a potential therapeutic
            target to treat debilitating chronic pain conditions
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2651)
  AUTHORS   Peters,M.J., Broer,L., Willemen,H.L., Eiriksdottir,G.,
            Hocking,L.J., Holliday,K.L., Horan,M.A., Meulenbelt,I., Neogi,T.,
            Popham,M., Schmidt,C.O., Soni,A., Valdes,A.M., Amin,N.,
            Dennison,E.M., Eijkelkamp,N., Harris,T.B., Hart,D.J., Hofman,A.,
            Huygen,F.J., Jameson,K.A., Jones,G.T., Launer,L.J., Kerkhof,H.J.,
            de Kruijf,M., McBeth,J., Kloppenburg,M., Ollier,W.E., Oostra,B.,
            Payton,A., Rivadeneira,F., Smith,B.H., Smith,A.V., Stolk,L.,
            Teumer,A., Thomson,W., Uitterlinden,A.G., Wang,K., van
            Wingerden,S.H., Arden,N.K., Cooper,C., Felson,D., Gudnason,V.,
            Macfarlane,G.J., Pendleton,N., Slagboom,P.E., Spector,T.D.,
            Volzke,H., Kavelaars,A., van Duijn,C.M., Williams,F.M. and van
            Meurs,J.B.
  TITLE     Genome-wide association study meta-analysis of chronic widespread
            pain: evidence for involvement of the 5p15.2 region
  JOURNAL   Ann Rheum Dis 72 (3), 427-436 (2013)
   PUBMED   22956598
REFERENCE   7  (bases 1 to 2651)
  AUTHORS   Lam,A.K., Gopalan,V., Nassiri,M.R., Kasim,K., Dissanayake,J.,
            Tang,J.C. and Smith,R.A.
  TITLE     Altered JS-2 expression in colorectal cancers and its clinical
            pathological relevance
  JOURNAL   Mol Oncol 5 (5), 475-481 (2011)
   PUBMED   21802380
  REMARK    GeneRIF: Genetic alteration of JS-2 was found to be related to
            location, pathological subtypes and staging of colorectal cancer.
REFERENCE   8  (bases 1 to 2651)
  AUTHORS   Kim,Y.C., Wu,Q., Chen,J., Xuan,Z., Jung,Y.C., Zhang,M.Q.,
            Rowley,J.D. and Wang,S.M.
  TITLE     The transcriptome of human CD34+ hematopoietic stem-progenitor
            cells
  JOURNAL   Proc Natl Acad Sci U S A 106 (20), 8278-8283 (2009)
   PUBMED   19416867
REFERENCE   9  (bases 1 to 2651)
  AUTHORS   Fatima,S., Chui,C.H., Tang,W.K., Hui,K.S., Au,H.W., Li,W.Y.,
            Wong,M.M., Cheung,F., Tsao,S.W., Lam,K.Y., Beh,P.S., Wong,J.,
            Law,S., Srivastava,G., Ho,K.P., Chan,A.S. and Tang,J.C.
  TITLE     Transforming capacity of two novel genes JS-1 and JS-2 located in
            chromosome 5p and their overexpression in human esophageal squamous
            cell carcinoma
  JOURNAL   Int J Mol Med 17 (1), 159-170 (2006)
   PUBMED   16328025
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            GD160552.1, AK300042.1 and AC034229.4.
            
            On Nov 22, 2018 this sequence version replaced NM_199133.3.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.92490.1,
                                           SRR1660809.104696.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155371 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000511437.6/ ENSP00000422338.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 GD160552.1         74-75               c
            3-721               AK300042.1         1-719
            722-2651            AC034229.4         127608-129537       c
FEATURES             Location/Qualifiers
     source          1..2651
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.2"
     gene            1..2651
                     /gene="ATPSCKMT"
                     /gene_synonym="FAM173B; hFAM173B; JS-2"
                     /note="ATP synthase c subunit lysine N-methyltransferase"
                     /db_xref="GeneID:134145"
                     /db_xref="HGNC:HGNC:27029"
                     /db_xref="MIM:618568"
     exon            1..31
                     /gene="ATPSCKMT"
                     /gene_synonym="FAM173B; hFAM173B; JS-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             16..717
                     /gene="ATPSCKMT"
                     /gene_synonym="FAM173B; hFAM173B; JS-2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein FAM173B; family with sequence similarity 173
                     member B; protein N-lysine methyltransferase FAM173B; ATP
                     synthase subunit C lysine N-methyltransferase"
                     /codon_start=1
                     /product="ATP synthase subunit C lysine
                     N-methyltransferase isoform 1"
                     /protein_id="NP_954584.2"
                     /db_xref="CCDS:CCDS43301.1"
                     /db_xref="GeneID:134145"
                     /db_xref="HGNC:HGNC:27029"
                     /db_xref="MIM:618568"
                     /translation="MEGGGGIPLETLKEESQSRHVLPASFEVNSLQKSNWGFLLTGLV
                     GGTLVAVYAVATPFVTPALRKVCLPFVPATTKQIENVVKMLRCRRGSLVDIGSGDGRI
                     VIAAAKKGFTAVGYELNPWLVWYSRYRAWREGVHGSAKFYISDLWKVTFSQYSNVVIF
                     GVPQMMLQLEKKLERELEDDARVIACRFPFPHWTPDHVTGEGIDTVWAYDASTFRGRE
                     KRPCTSMHFQLPIQA"
     exon            32..321
                     /gene="ATPSCKMT"
                     /gene_synonym="FAM173B; hFAM173B; JS-2"
                     /inference="alignment:Splign:2.1.0"
     exon            322..459
                     /gene="ATPSCKMT"
                     /gene_synonym="FAM173B; hFAM173B; JS-2"
                     /inference="alignment:Splign:2.1.0"
     exon            460..510
                     /gene="ATPSCKMT"
                     /gene_synonym="FAM173B; hFAM173B; JS-2"
                     /inference="alignment:Splign:2.1.0"
     exon            511..2651
                     /gene="ATPSCKMT"
                     /gene_synonym="FAM173B; hFAM173B; JS-2"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1297
                     /gene="ATPSCKMT"
                     /gene_synonym="FAM173B; hFAM173B; JS-2"
                     /note="major polyA site"
     regulatory      1815..1820
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATPSCKMT"
                     /gene_synonym="FAM173B; hFAM173B; JS-2"
                     /note="hexamer: TATAAA"
     polyA_site      1829
                     /gene="ATPSCKMT"
                     /gene_synonym="FAM173B; hFAM173B; JS-2"
     regulatory      2629..2634
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATPSCKMT"
                     /gene_synonym="FAM173B; hFAM173B; JS-2"
                     /note="hexamer: ATTAAA"
     polyA_site      2651
                     /gene="ATPSCKMT"
                     /gene_synonym="FAM173B; hFAM173B; JS-2"
ORIGIN      
        1 gttggaaatc tcgcgatgga gggaggagga ggtatacccc tagaaacact taaagaagaa
       61 agtcagtcaa gacatgttct acctgcaagt tttgaagtca acagtttgca gaaaagcaac
      121 tgggggttct tacttactgg gcttgtgggt ggcaccctgg tggctgtgta cgctgtagcc
      181 acgccgtttg taacgccagc ccttcgaaaa gtctgtttgc cgtttgtacc tgcaactacg
      241 aagcagattg aaaatgttgt gaaaatgttg cgatgccgaa gaggatccct tgtggacatc
      301 ggtagtgggg acggacgcat tgtcatagcg gctgcgaaga aagggttcac agcagttggt
      361 tatgaattaa acccatggct agtttggtat tccagatacc gcgcttggcg agaaggtgtg
      421 catggatctg ccaaatttta tatttcagat ttgtggaagg ttactttttc gcagtactcg
      481 aacgttgtta ttttcggtgt gcctcagatg atgctgcagt tggagaagaa acttgaacgt
      541 gaacttgagg atgatgcacg agttattgct tgccggttcc ctttcccaca ttggactcca
      601 gaccacgtca cgggggaggg gatagacaca gtgtgggcat atgatgcaag cacttttaga
      661 ggccgtgaaa agaggccctg tacatcgatg catttccagc tgcccattca agcataaact
      721 tgactgggag tgtttttctg aaatattgta gtcttccctg atcttgtaga gacttacagc
      781 tgtgtcctta gcaaaggagc ataattgtct ttggtttgga atgagaaatt actattactt
      841 tccttaactg ttggagaaaa caaacgaaga aaaacaggta gatttaaaat ctgcttttga
      901 tgctattttc ttaaaaattg tacttactgc ctttccatgc acctggatgc atgaaaagat
      961 gaataagtga tggtcatggt tatgggtagg aaaataagat gccaatagct cttcacatta
     1021 taaacaatat ggcttaatgc ctcgataagg agaaatgatt tttaaagaca gtatatatta
     1081 ccaactgttt gtagtatcct ataactttgt tcatacttaa gttgtatctc tttccttttt
     1141 gtacttcatg gcaaaattaa ttttctaaag gattcagaga ggcgtttata ttttataaca
     1201 tttattagaa ataatttgtt ccaccactag attactgtat tttatggaat ctaagctgta
     1261 tatgtgtaca tttgtataca tgtatgtgta aatgtaagcc tgacgtgggt tcagattcca
     1321 gttttgtcat cagcaagagg cctcggaccc atgacttact gcctctgagc cttggctttc
     1381 tgtgtatctc tgccactggg ataatggtac acataacagt ggagtgggga ccaatttcta
     1441 aaactcatgg cacctagtct ttggtccata aatggtgttt gttattttag acactgagaa
     1501 aaatcttatt cacagaagtt gcagattatt tctgctagtc acttttttat ttcttgagag
     1561 ctgccactca tttaatattt ctcatttatg agaagagact tgactgattt agataaaaga
     1621 cgaattaagg aaaacctttg aacgtgagta gacaagcttc atatatctgt aaagtgaata
     1681 ttgaatggta gcttgagtca ttcgtactta tcacagaaaa gaattgaact cccagtcata
     1741 cacctgtaac tgaaatacca aactgtctta atggagatgt aatgaagtaa gatggtcaca
     1801 tctttaacta aacttataaa aattggtcag tttgatcatt ttcatttaaa tgagaaacat
     1861 ctggggacac attcattcat tcaacaaata tgtattcagt atctactgta gaagaagctc
     1921 tgagattctg cggtaaatag acatgcaaag cccctggcct catggaattc ctattctgga
     1981 aaggagagac aaacaaataa gcaagggaat cttagtgtgt gtggagttct ctgaagtaaa
     2041 cagtgtgatg gtgtagagag cacctgtgtg agtctgagat gaggggatgt gatgttgtgg
     2101 acttcagcca ggtttttggc agctagtgtc tgtccctttt tcagtagctc cagtcttctt
     2161 atgaagaatg agttctttct gtggtgtgtg actttagtgg gagggcagct cttgctctat
     2221 gcctctcagt tgccttccac tgtaaccagt cctgtaactg gtctgggcac actcggaggg
     2281 ggatccatgg tagctccttg ccatgaagat gtgggtagag gagggttctg tggggcctcg
     2341 gaggtgttca acattttcta gaagtgttcc tggtgggttt atagaggcat tgatatggtt
     2401 tggctgtgtc cctacccaaa tctcatcttg aattcccacg tgttgtggga aggacctggt
     2461 gggaggtgat tgaattatgg gggcaggtct ttcctgtgct gttctcatga tagtgagtaa
     2521 gtttaatgag atctgatggt tattttaggg gggagttttc ctgcacaagc tctttttgcc
     2581 tactaccatt cacgtaagat attccagcca catggaactg taagtccaat taaagctctt
     2641 tcttttgtaa a
//
