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RecName: Full=ATP synthase subunit C lysine N-methyltransferase; AltName: Full=Protein N-lysine methyltransferase FAM173B; Short=hFAM173B

UniProtKB/Swiss-Prot: Q6P4H8.2

Identical Proteins FASTA Graphics 

LOCUS       ACKMT_HUMAN              233 aa            linear   PRI 27-NOV-2024
DEFINITION  RecName: Full=ATP synthase subunit C lysine N-methyltransferase;
            AltName: Full=Protein N-lysine methyltransferase FAM173B;
            Short=hFAM173B.
ACCESSION   Q6P4H8
VERSION     Q6P4H8.2
DBSOURCE    UniProtKB: locus ACKMT_HUMAN, accession Q6P4H8;
            class: standard.
            extra accessions:B4DT41,B4DXK2,E9PBZ4
            created: Feb 26, 2008.
            sequence updated: Feb 26, 2008.
            annotation updated: Nov 27, 2024.
            xrefs: AK300042.1, BAG61853.1, AK302012.1, BAG63414.1, AC012640.12,
            AC034229.4, CH471102.2, EAX08074.1, BC063406.1, AAH63406.1,
            NP_001245317.1, NP_954584.2
            xrefs (non-sequence databases): CCDS:CCDS43301.1, CCDS:CCDS58942.1,
            AlphaFoldDB:Q6P4H8, SMR:Q6P4H8, BioGRID:126386, IntAct:Q6P4H8,
            STRING:9606.ENSP00000422338, iPTMnet:Q6P4H8,
            PhosphoSitePlus:Q6P4H8, BioMuta:FAM173B, DMDM:190360174,
            MassIVE:Q6P4H8, PaxDb:9606-ENSP00000422338, PeptideAtlas:Q6P4H8,
            ProteomicsDB:19326, ProteomicsDB:66979, Pumba:Q6P4H8,
            Antibodypedia:22448, DNASU:134145, Ensembl:ENST00000510047.5,
            Ensembl:ENSP00000420876.1, Ensembl:ENSG00000150756.14,
            Ensembl:ENST00000511437.6, Ensembl:ENSP00000422338.1,
            GeneID:134145, KEGG:hsa:134145, MANE-Select:ENST00000511437.6,
            UCSC:uc003jeo.4, AGR:HGNC:27029, CTD:134145, DisGeNET:134145,
            GeneCards:ATPSCKMT, HGNC:27029, HPA:ENSG00000150756, MIM 618568,
            neXtProt:NX_Q6P4H8, OpenTargets:ENSG00000150756,
            PharmGKB:PA162387281, VEuPathDB:HostDB:ENSG00000150756,
            eggNOG:KOG4058, GeneTree:ENSGT00390000014771,
            HOGENOM:CLU_068443_4_0_1, InParanoid:Q6P4H8, OMA:FRKFCLP,
            OrthoDB:2963877at2759, PhylomeDB:Q6P4H8, TreeFam:TF314984,
            PathwayCommons:Q6P4H8, SignaLink:Q6P4H8, BioGRID-ORCS:134145,
            ChiTaRS:FAM173B, GenomeRNAi:134145, Pharos:Q6P4H8, PRO:PR:Q6P4H8,
            Proteomes:UP000005640, RNAct:Q6P4H8, Bgee:ENSG00000150756,
            ExpressionAtlas:Q6P4H8, GO:0030061, GO:0005739, GO:0042054,
            GO:0016279, GO:0018022, GO:0018023, GO:1905273, GO:1904058,
            GO:1905706, FunFam:3.40.50.150:FF:000141, Gene3D:3.40.50.150,
            InterPro:IPR026170, InterPro:IPR029063, PANTHER:PTHR13610:SF8,
            PANTHER:PTHR13610, SUPFAM:SSF53335
KEYWORDS    Acetylation; Alternative splicing; Membrane; Methyltransferase;
            Mitochondrion; Proteomics identification; Reference proteome;
            S-adenosyl-L-methionine; Transferase; Transmembrane; Transmembrane
            helix.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 233)
  AUTHORS   Ota,T., Suzuki,Y., Nishikawa,T., Otsuki,T., Sugiyama,T., Irie,R.,
            Wakamatsu,A., Hayashi,K., Sato,H., Nagai,K., Kimura,K., Makita,H.,
            Sekine,M., Obayashi,M., Nishi,T., Shibahara,T., Tanaka,T.,
            Ishii,S., Yamamoto,J., Saito,K., Kawai,Y., Isono,Y., Nakamura,Y.,
            Nagahari,K., Murakami,K., Yasuda,T., Iwayanagi,T., Wagatsuma,M.,
            Shiratori,A., Sudo,H., Hosoiri,T., Kaku,Y., Kodaira,H., Kondo,H.,
            Sugawara,M., Takahashi,M., Kanda,K., Yokoi,T., Furuya,T.,
            Kikkawa,E., Omura,Y., Abe,K., Kamihara,K., Katsuta,N., Sato,K.,
            Tanikawa,M., Yamazaki,M., Ninomiya,K., Ishibashi,T., Yamashita,H.,
            Murakawa,K., Fujimori,K., Tanai,H., Kimata,M., Watanabe,M.,
            Hiraoka,S., Chiba,Y., Ishida,S., Ono,Y., Takiguchi,S., Watanabe,S.,
            Yosida,M., Hotuta,T., Kusano,J., Kanehori,K., Takahashi-Fujii,A.,
            Hara,H., Tanase,T.O., Nomura,Y., Togiya,S., Komai,F., Hara,R.,
            Takeuchi,K., Arita,M., Imose,N., Musashino,K., Yuuki,H., Oshima,A.,
            Sasaki,N., Aotsuka,S., Yoshikawa,Y., Matsunawa,H., Ichihara,T.,
            Shiohata,N., Sano,S., Moriya,S., Momiyama,H., Satoh,N., Takami,S.,
            Terashima,Y., Suzuki,O., Nakagawa,S., Senoh,A., Mizoguchi,H.,
            Goto,Y., Shimizu,F., Wakebe,H., Hishigaki,H., Watanabe,T.,
            Sugiyama,A., Takemoto,M., Kawakami,B., Yamazaki,M., Watanabe,K.,
            Kumagai,A., Itakura,S., Fukuzumi,Y., Fujimori,Y., Komiyama,M.,
            Tashiro,H., Tanigami,A., Fujiwara,T., Ono,T., Yamada,K., Fujii,Y.,
            Ozaki,K., Hirao,M., Ohmori,Y., Kawabata,A., Hikiji,T., Kobatake,N.,
            Inagaki,H., Ikema,Y., Okamoto,S., Okitani,R., Kawakami,T.,
            Noguchi,S., Itoh,T., Shigeta,K., Senba,T., Matsumura,K.,
            Nakajima,Y., Mizuno,T., Morinaga,M., Sasaki,M., Togashi,T.,
            Oyama,M., Hata,H., Watanabe,M., Komatsu,T., Mizushima-Sugano,J.,
            Satoh,T., Shirai,Y., Takahashi,Y., Nakagawa,K., Okumura,K.,
            Nagase,T., Nomura,N., Kikuchi,H., Masuho,Y., Yamashita,R.,
            Nakai,K., Yada,T., Nakamura,Y., Ohara,O., Isogai,T. and Sugano,S.
  TITLE     Complete sequencing and characterization of 21,243 full-length
            human cDNAs
  JOURNAL   Nat Genet 36 (1), 40-45 (2004)
   PUBMED   14702039
  REMARK    NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND
            VARIANT MET-75.;
            TISSUE=Testis
REFERENCE   2  (residues 1 to 233)
  AUTHORS   Schmutz,J., Martin,J., Terry,A., Couronne,O., Grimwood,J.,
            Lowry,S., Gordon,L.A., Scott,D., Xie,G., Huang,W., Hellsten,U.,
            Tran-Gyamfi,M., She,X., Prabhakar,S., Aerts,A., Altherr,M.,
            Bajorek,E., Black,S., Branscomb,E., Caoile,C., Challacombe,J.F.,
            Chan,Y.M., Denys,M., Detter,J.C., Escobar,J., Flowers,D.,
            Fotopulos,D., Glavina,T., Gomez,M., Gonzales,E., Goodstein,D.,
            Grigoriev,I., Groza,M., Hammon,N., Hawkins,T., Haydu,L., Israni,S.,
            Jett,J., Kadner,K., Kimball,H., Kobayashi,A., Lopez,F., Lou,Y.,
            Martinez,D., Medina,C., Morgan,J., Nandkeshwar,R., Noonan,J.P.,
            Pitluck,S., Pollard,M., Predki,P., Priest,J., Ramirez,L.,
            Retterer,J., Rodriguez,A., Rogers,S., Salamov,A., Salazar,A.,
            Thayer,N., Tice,H., Tsai,M., Ustaszewska,A., Vo,N., Wheeler,J.,
            Wu,K., Yang,J., Dickson,M., Cheng,J.F., Eichler,E.E., Olsen,A.,
            Pennacchio,L.A., Rokhsar,D.S., Richardson,P., Lucas,S.M.,
            Myers,R.M. and Rubin,E.M.
  TITLE     The DNA sequence and comparative analysis of human chromosome 5
  JOURNAL   Nature 431 (7006), 268-274 (2004)
   PUBMED   15372022
  REMARK    NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
REFERENCE   3  (residues 1 to 233)
  AUTHORS   Mural,R.J., Istrail,S., Sutton,G.G., Florea,L., Halpern,A.L.,
            Mobarry,C.M., Lippert,R., Walenz,B., Shatkay,H., Dew,I.,
            Miller,J.R., Flanigan,M.J., Edwards,N.J., Bolanos,R., Fasulo,D.,
            Halldorsson,B.V., Hannenhalli,S., Turner,R., Yooseph,S., Lu,F.,
            Nusskern,D.R., Shue,B.C., Zheng,X.H., Zhong,F., Delcher,A.L.,
            Huson,D.H., Kravitz,S.A., Mouchard,L., Reinert,K., Remington,K.A.,
            Clark,A.G., Waterman,M.S., Eichler,E.E., Adams,M.D.,
            Hunkapiller,M.W., Myers,E.W. and Venter,J.C.
  TITLE     Direct Submission
  JOURNAL   Submitted (??-SEP-2005) to the EMBL/GenBank/DDBJ databases
  REMARK    NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
REFERENCE   4  (residues 1 to 233)
  AUTHORS   Gerhard,D.S., Wagner,L., Feingold,E.A., Shenmen,C.M., Grouse,L.H.,
            Schuler,G., Klein,S.L., Old,S., Rasooly,R., Good,P., Guyer,M.,
            Peck,A.M., Derge,J.G., Lipman,D., Collins,F.S., Jang,W., Sherry,S.,
            Feolo,M., Misquitta,L., Lee,E., Rotmistrovsky,K., Greenhut,S.F.,
            Schaefer,C.F., Buetow,K., Bonner,T.I., Haussler,D., Kent,J.,
            Kiekhaus,M., Furey,T., Brent,M., Prange,C., Schreiber,K.,
            Shapiro,N., Bhat,N.K., Hopkins,R.F., Hsie,F., Driscoll,T.,
            Soares,M.B., Casavant,T.L., Scheetz,T.E., Brown-stein,M.J.,
            Usdin,T.B., Toshiyuki,S., Carninci,P., Piao,Y., Dudekula,D.B.,
            Ko,M.S., Kawakami,K., Suzuki,Y., Sugano,S., Gruber,C.E.,
            Smith,M.R., Simmons,B., Moore,T., Waterman,R., Johnson,S.L.,
            Ruan,Y., Wei,C.L., Mathavan,S., Gunaratne,P.H., Wu,J., Garcia,A.M.,
            Hulyk,S.W., Fuh,E., Yuan,Y., Sneed,A., Kowis,C., Hodgson,A.,
            Muzny,D.M., McPherson,J., Gibbs,R.A., Fahey,J., Helton,E.,
            Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M.,
            Madari,A., Young,A.C., Wetherby,K.D., Granite,S.J., Kwong,P.N.,
            Brinkley,C.P., Pearson,R.L., Bouffard,G.G., Blakesly,R.W.,
            Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J.,
            Myers,R.M., Butterfield,Y.S., Griffith,M., Griffith,O.L.,
            Krzywinski,M.I., Liao,N., Morin,R., Palmquist,D., Petrescu,A.S.,
            Skalska,U., Smailus,D.E., Stott,J.M., Schnerch,A., Schein,J.E.,
            Jones,S.J., Holt,R.A., Baross,A., Marra,M.A., Clifton,S.,
            Makowski,K.A., Bosak,S. and Malek,J.
  CONSRTM   MGC Project Team
  TITLE     The status, quality, and expansion of the NIH full-length cDNA
            project: the Mammalian Gene Collection (MGC)
  JOURNAL   Genome Res 14 (10B), 2121-2127 (2004)
   PUBMED   15489334
  REMARK    NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
            MET-75.;
            TISSUE=Colon
            Erratum:[Genome Res. 2006 Jun;16(6):804. Morrin, Ryan [corrected to
            Morin, Ryan]]
REFERENCE   5  (residues 1 to 233)
  AUTHORS   Van Damme,P., Lasa,M., Polevoda,B., Gazquez,C., Elosegui-Artola,A.,
            Kim,D.S., De Juan-Pardo,E., Demeyer,K., Hole,K., Larrea,E.,
            Timmerman,E., Prieto,J., Arnesen,T., Sherman,F., Gevaert,K. and
            Aldabe,R.
  TITLE     N-terminal acetylome analyses and functional insights of the
            N-terminal acetyltransferase NatB
  JOURNAL   Proc Natl Acad Sci U S A 109 (31), 12449-12454 (2012)
   PUBMED   22814378
  REMARK    ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY
            MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
REFERENCE   6  (residues 1 to 233)
  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    FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND MUTAGENESIS
            OF ASP-94.
            Publication Status: Online-Only
REFERENCE   7  (residues 1 to 233)
  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    FUNCTION, SUBCELLULAR LOCATION, CATALYTIC ACTIVITY, DOMAIN, AND
            MUTAGENESIS OF GLU-117.
COMMENT     On Jun 14, 2008 this sequence version replaced gi:74758272.
            [FUNCTION] Mitochondrial protein-lysine N-methyltransferase that
            trimethylates ATP synthase subunit C, ATP5MC1 and ATP5MC2.
            Trimethylation is required for proper incorporation of the C
            subunit into the ATP synthase complex and mitochondrial respiration
            (PubMed:29444090, PubMed:30530489). Promotes chronic pain
            (PubMed:29444090). Involved in persistent inflammatory and
            neuropathic pain: methyltransferase activity in the mitochondria of
            sensory neurons promotes chronic pain via a pathway that depends on
            the production of reactive oxygen species (ROS) and on the
            engagement of spinal cord microglia (PubMed:29444090).
            {ECO:0000269|PubMed:29444090, ECO:0000269|PubMed:30530489}.
            [CATALYTIC ACTIVITY] Reaction=L-lysyl-[protein] + 3
            S-adenosyl-L-methionine =
            N(6),N(6),N(6)-trimethyl-L-lysyl-[protein] + 3
            S-adenosyl-L-homocysteine + 3 H(+); Xref=Rhea:RHEA:54192,
            Rhea:RHEA-COMP:9752, Rhea:RHEA-COMP:13826, ChEBI:CHEBI:15378,
            ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789,
            ChEBI:CHEBI:61961; Evidence={ECO:0000269|PubMed:29444090,
            ECO:0000269|PubMed:30530489}; PhysiologicalDirection=left-to-right;
            Xref=Rhea:RHEA:54193; Evidence={ECO:0000269|PubMed:29444090,
            ECO:0000269|PubMed:30530489}.
            [INTERACTION] Q6P4H8; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-12382465,
            EBI-16439278.
            [SUBCELLULAR LOCATION] Mitochondrion membrane
            {ECO:0000269|PubMed:30530489, ECO:0000305|PubMed:29444090};
            Single-pass membrane protein {ECO:0000255}. Note=Localizes to
            mitochondrial cristae. {ECO:0000269|PubMed:29444090}.
            [ALTERNATIVE PRODUCTS] Event=Alternative splicing; Named
            isoforms=2; Name=1; IsoId=Q6P4H8-1; Sequence=Displayed; Name=2;
            IsoId=Q6P4H8-2; Sequence=VSP_044724.
            [TISSUE SPECIFICITY] Ubiquitously expressed.
            {ECO:0000269|PubMed:29444090}.
            [DOMAIN] Contains an atypical, non-cleavable mitochondrial
            targeting sequence responsible for its localization to
            mitochondria. {ECO:0000269|PubMed:30530489}.
            [SIMILARITY] Belongs to the ANT/ATPSC lysine N-methyltransferase
            family. {ECO:0000305}.
FEATURES             Location/Qualifiers
     source          1..233
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
     gene            1..233
                     /gene="ATPSCKMT"
                     /gene_synonym="FAM173B"
     Protein         1..233
                     /product="ATP synthase subunit C lysine
                     N-methyltransferase"
                     /EC_number="2.1.1.-"
                     /note="Protein N-lysine methyltransferase FAM173B;
                     hFAM173B"
                     /UniProtKB_evidence="Evidence at protein level"
     Region          1..233
                     /region_name="Mature chain"
                     /note="ATP synthase subunit C lysine N-methyltransferase.
                     /id=PRO_0000321536."
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:22814378."
     Region          38..58
                     /region_name="Transmembrane region"
                     /note="Helical. /evidence=ECO:0000255."
     Region          56..90
                     /region_name="Region of interest in the sequence"
                     /note="Required for mitochondrial location.
                     /evidence=ECO:0000269|PubMed:30530489."
     Region          75
                     /region_name="Variant"
                     /note="T -> M (in dbSNP:rs2438652).
                     /evidence=ECO:0000269|PubMed:14702039,
                     ECO:0000269|PubMed:15489334. /id=VAR_039345."
     Region          76..>136
                     /region_name="UbiG"
                     /note="2-polyprenyl-3-methyl-5-hydroxy-6-metoxy-1,
                     4-benzoquinol methylase [Coenzyme transport and
                     metabolism]; COG2227"
                     /db_xref="CDD:441829"
     Site            94
                     /site_type="mutagenized"
                     /note="D->A: Abolished protein-lysine N-methyltransferase
                     activity and ability to promote chronic pain.
                     /evidence=ECO:0000269|PubMed:29444090."
     Region          105
                     /region_name="Variant"
                     /note="A -> V (in dbSNP:rs16884350). /id=VAR_039346."
     Region          114
                     /region_name="Variant"
                     /note="V -> A (in dbSNP:rs17360625). /id=VAR_039347."
     Site            117
                     /site_type="mutagenized"
                     /note="E->A: Abolished protein-lysine N-methyltransferase
                     activity. /evidence=ECO:0000269|PubMed:30530489."
     Region          149..165
                     /region_name="Splicing variant"
                     /note="Missing (in isoform 2).
                     /evidence=ECO:0000303|PubMed:14702039. /id=VSP_044724."
     Region          229
                     /region_name="Variant"
                     /note="L -> M (in dbSNP:rs15757). /id=VAR_039348."
ORIGIN      
        1 meggggiple tlkeesqsrh vlpasfevns lqksnwgfll tglvggtlva vyavatpfvt
       61 palrkvclpf vpattkqien vvkmlrcrrg slvdigsgdg riviaaakkg ftavgyelnp
      121 wlvwysryra wregvhgsak fyisdlwkvt fsqysnvvif gvpqmmlqle kklereledd
      181 arviacrfpf phwtpdhvtg egidtvwayd astfrgrekr pctsmhfqlp iqa
//
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