LOCUS       NM_199227               3049 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens methionyl aminopeptidase type 1D, mitochondrial
            (METAP1D), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_199227 XM_171022
VERSION     NM_199227.3
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 3049)
  AUTHORS   Lee,Y., Kim,H., Lee,E., Hahn,H., Heo,Y., Jang,D.M., Kwak,K.,
            Kim,H.J. and Kim,H.S.
  TITLE     Structural insights into N-terminal methionine cleavage by the
            human mitochondrial methionine aminopeptidase, MetAP1D
  JOURNAL   Sci Rep 13 (1), 22326 (2023)
   PUBMED   38102161
  REMARK    GeneRIF: Structural insights into N-terminal methionine cleavage by
            the human mitochondrial methionine aminopeptidase, MetAP1D.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3049)
  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   3  (bases 1 to 3049)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 3049)
  AUTHORS   Zouboulis,C.C., Nogueira da Costa,A., Fimmel,S. and Zouboulis,K.C.
  TITLE     Apocrine glands are bystanders in hidradenitis suppurativa and
            their involvement is gender specific
  JOURNAL   J Eur Acad Dermatol Venereol 34 (7), 1555-1563 (2020)
   PUBMED   32031713
REFERENCE   5  (bases 1 to 3049)
  AUTHORS   Michailidou,K., Hall,P., Gonzalez-Neira,A., Ghoussaini,M.,
            Dennis,J., Milne,R.L., Schmidt,M.K., Chang-Claude,J., Bojesen,S.E.,
            Bolla,M.K., Wang,Q., Dicks,E., Lee,A., Turnbull,C., Rahman,N.,
            Fletcher,O., Peto,J., Gibson,L., Dos Santos Silva,I.,
            Nevanlinna,H., Muranen,T.A., Aittomaki,K., Blomqvist,C., Czene,K.,
            Irwanto,A., Liu,J., Waisfisz,Q., Meijers-Heijboer,H., Adank,M., van
            der Luijt,R.B., Hein,R., Dahmen,N., Beckman,L., Meindl,A.,
            Schmutzler,R.K., Muller-Myhsok,B., Lichtner,P., Hopper,J.L.,
            Southey,M.C., Makalic,E., Schmidt,D.F., Uitterlinden,A.G.,
            Hofman,A., Hunter,D.J., Chanock,S.J., Vincent,D., Bacot,F.,
            Tessier,D.C., Canisius,S., Wessels,L.F., Haiman,C.A., Shah,M.,
            Luben,R., Brown,J., Luccarini,C., Schoof,N., Humphreys,K., Li,J.,
            Nordestgaard,B.G., Nielsen,S.F., Flyger,H., Couch,F.J., Wang,X.,
            Vachon,C., Stevens,K.N., Lambrechts,D., Moisse,M., Paridaens,R.,
            Christiaens,M.R., Rudolph,A., Nickels,S., Flesch-Janys,D.,
            Johnson,N., Aitken,Z., Aaltonen,K., Heikkinen,T., Broeks,A.,
            Veer,L.J., van der Schoot,C.E., Guenel,P., Truong,T.,
            Laurent-Puig,P., Menegaux,F., Marme,F., Schneeweiss,A., Sohn,C.,
            Burwinkel,B., Zamora,M.P., Perez,J.I., Pita,G., Alonso,M.R.,
            Cox,A., Brock,I.W., Cross,S.S., Reed,M.W., Sawyer,E.J.,
            Tomlinson,I., Kerin,M.J., Miller,N., Henderson,B.E., Schumacher,F.,
            Le Marchand,L., Andrulis,I.L., Knight,J.A., Glendon,G.,
            Mulligan,A.M., Lindblom,A., Margolin,S., Hooning,M.J.,
            Hollestelle,A., van den Ouweland,A.M., Jager,A., Bui,Q.M.,
            Stone,J., Dite,G.S., Apicella,C., Tsimiklis,H., Giles,G.G.,
            Severi,G., Baglietto,L., Fasching,P.A., Haeberle,L., Ekici,A.B.,
            Beckmann,M.W., Brenner,H., Muller,H., Arndt,V., Stegmaier,C.,
            Swerdlow,A., Ashworth,A., Orr,N., Jones,M., Figueroa,J.,
            Lissowska,J., Brinton,L., Goldberg,M.S., Labreche,F., Dumont,M.,
            Winqvist,R., Pylkas,K., Jukkola-Vuorinen,A., Grip,M., Brauch,H.,
            Hamann,U., Bruning,T., Radice,P., Peterlongo,P., Manoukian,S.,
            Bonanni,B., Devilee,P., Tollenaar,R.A., Seynaeve,C., van
            Asperen,C.J., Jakubowska,A., Lubinski,J., Jaworska,K., Durda,K.,
            Mannermaa,A., Kataja,V., Kosma,V.M., Hartikainen,J.M.,
            Bogdanova,N.V., Antonenkova,N.N., Dork,T., Kristensen,V.N.,
            Anton-Culver,H., Slager,S., Toland,A.E., Edge,S., Fostira,F.,
            Kang,D., Yoo,K.Y., Noh,D.Y., Matsuo,K., Ito,H., Iwata,H., Sueta,A.,
            Wu,A.H., Tseng,C.C., Van Den Berg,D., Stram,D.O., Shu,X.O., Lu,W.,
            Gao,Y.T., Cai,H., Teo,S.H., Yip,C.H., Phuah,S.Y., Cornes,B.K.,
            Hartman,M., Miao,H., Lim,W.Y., Sng,J.H., Muir,K., Lophatananon,A.,
            Stewart-Brown,S., Siriwanarangsan,P., Shen,C.Y., Hsiung,C.N.,
            Wu,P.E., Ding,S.L., Sangrajrang,S., Gaborieau,V., Brennan,P.,
            McKay,J., Blot,W.J., Signorello,L.B., Cai,Q., Zheng,W.,
            Deming-Halverson,S., Shrubsole,M., Long,J., Simard,J.,
            Garcia-Closas,M., Pharoah,P.D., Chenevix-Trench,G., Dunning,A.M.,
            Benitez,J. and Easton,D.F.
  CONSRTM   Breast and Ovarian Cancer Susceptibility Collaboration; Hereditary
            Breast and Ovarian Cancer Research Group Netherlands (HEBON);
            kConFab Investigators; Australian Ovarian Cancer Study Group;
            GENICA (Gene Environment Interaction and Breast Cancer in Germany)
            Network
  TITLE     Large-scale genotyping identifies 41 new loci associated with
            breast cancer risk
  JOURNAL   Nat Genet 45 (4), 353-361 (2013)
   PUBMED   23535729
REFERENCE   6  (bases 1 to 3049)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   7  (bases 1 to 3049)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3049)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 3049)
  AUTHORS   Leszczyniecka,M., Bhatia,U., Cueto,M., Nirmala,N.R., Towbin,H.,
            Vattay,A., Wang,B., Zabludoff,S. and Phillips,P.E.
  TITLE     MAP1D, a novel methionine aminopeptidase family member is
            overexpressed in colon cancer
  JOURNAL   Oncogene 25 (24), 3471-3478 (2006)
   PUBMED   16568094
  REMARK    GeneRIF: MAP1D is a potentially oncogenic, novel member of the MAP
            gene family that may play an important role in colon tumorigenesis
REFERENCE   10 (bases 1 to 3049)
  AUTHORS   Serero,A., Giglione,C., Sardini,A., Martinez-Sanz,J. and Meinnel,T.
  TITLE     An unusual peptide deformylase features in the human mitochondrial
            N-terminal methionine excision pathway
  JOURNAL   J Biol Chem 278 (52), 52953-52963 (2003)
   PUBMED   14532271
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY374142.1, AC015976.8 and BM982111.1.
            
            On Nov 23, 2018 this sequence version replaced NM_199227.2.
            
            Summary: The N-terminal methionine excision pathway is an essential
            process in which the N-terminal methionine is removed from many
            proteins, thus facilitating subsequent protein modification. In
            mitochondria, enzymes that catalyze this reaction are celled
            methionine aminopeptidases (MetAps, or MAPs; EC 3.4.11.18) (Serero
            et al., 2003 [PubMed 14532271]).[supplied by OMIM, Mar 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.138718.1,
                                           SRR1803611.97857.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000315796.5/
                                                  ENSP00000315152.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1478              AY374142.1         57-1534
            1479-2440           AC015976.8         153928-154889
            2441-3049           BM982111.1         16-624              c
FEATURES             Location/Qualifiers
     source          1..3049
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     gene            1..3049
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /note="methionyl aminopeptidase type 1D, mitochondrial"
                     /db_xref="GeneID:254042"
                     /db_xref="HGNC:HGNC:32583"
                     /db_xref="MIM:610267"
     exon            1..57
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /inference="alignment:Splign:2.1.0"
     CDS             18..1025
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /EC_number="3.4.11.18"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; methionine aminopeptidase 1D, mitochondrial;
                     CDS of metAP-3 within PCR fragment; peptidase M 1D; metAP
                     1D"
                     /codon_start=1
                     /product="methionine aminopeptidase 1D, mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_954697.1"
                     /db_xref="CCDS:CCDS2246.1"
                     /db_xref="GeneID:254042"
                     /db_xref="HGNC:HGNC:32583"
                     /db_xref="MIM:610267"
                     /translation="MAAPSGVHLLVRRGSHRIFSSPLNHIYLHKQSSSQQRRNFFFRR
                     QRDISHSIVLPAAVSSAHPVPKHIKKPDYVTTGIVPDWGDSIEVKNEDQIQGLHQACQ
                     LARHVLLLAGKSLKVDMTTEEIDALVHREIISHNAYPSPLGYGGFPKSVCTSVNNVLC
                     HGIPDSRPLQDGDIINIDVTVYYNGYHGDTSETFLVGNVDECGKKLVEVARRCRDEAI
                     AACRAGAPFSVIGNTISHITHQNGFQVCPHFVGHGIGSYFHGHPEIWHHANDSDLPME
                     EGMAFTIEPIITEGSPEFKVLEDAWTVVSLDNQRSAQFEHTVLITSRGAQILTKLPHE
                     A"
     exon            58..215
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /inference="alignment:Splign:2.1.0"
     exon            216..365
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /inference="alignment:Splign:2.1.0"
     exon            366..514
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /inference="alignment:Splign:2.1.0"
     exon            515..557
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /inference="alignment:Splign:2.1.0"
     exon            558..721
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /inference="alignment:Splign:2.1.0"
     exon            722..819
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /inference="alignment:Splign:2.1.0"
     exon            820..867
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /inference="alignment:Splign:2.1.0"
     exon            868..946
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /inference="alignment:Splign:2.1.0"
     exon            947..3049
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3030..3035
                     /regulatory_class="polyA_signal_sequence"
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /note="hexamer: ATTAAA"
     polyA_site      3049
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /note="major polyA site"
ORIGIN      
        1 acgtgaccga cgccaacatg gcggcgccca gtggcgtcca cctgctcgtc cgcagaggtt
       61 ctcatagaat tttctcttca ccactcaatc atatctactt acacaagcag tcaagcagtc
      121 aacaaagaag aaatttcttt tttcggagac aaagagatat ttcacacagt atagttttgc
      181 cggctgcagt ttcttcagct catccggttc ctaagcacat aaagaagcca gactatgtga
      241 cgacaggcat tgtaccagac tggggagaca gcatagaagt taagaatgaa gatcagattc
      301 aagggcttca tcaggcttgt cagctggccc gccacgtcct cctcttggct gggaagagtt
      361 taaaggttga catgacaact gaagagatag atgctcttgt tcatcgggaa atcatcagtc
      421 ataatgccta tccctcacct ctaggctatg gaggttttcc aaaatctgtt tgtacctctg
      481 taaacaacgt gctctgtcat ggtattcctg acagtcgacc tcttcaggat ggagatatta
      541 tcaacattga tgtcacagtc tattacaatg gctaccatgg agacacctct gaaacatttt
      601 tggtgggcaa tgtggacgaa tgtggtaaaa agttagtgga ggttgccagg aggtgtagag
      661 atgaagcaat tgcagcttgc agagcagggg ctcccttctc tgtaattgga aacacaatca
      721 gccacataac tcatcagaat ggttttcaag tctgtccaca ttttgtggga catggaatag
      781 gatcttactt tcatggacat ccagaaattt ggcatcatgc aaacgacagt gatctaccca
      841 tggaggaggg catggcattc actatagagc caatcatcac ggagggatcc cctgaattta
      901 aagtcctgga ggatgcatgg actgtggtct ccctagacaa tcaaaggtcg gcgcagttcg
      961 agcacacggt tctgatcacg tcgaggggcg cgcagatcct gaccaaacta ccccatgagg
     1021 cctgaggagc cgcccgaagg tcgcggtgac ctggtgcctt tttaaataaa ttgctgaaat
     1081 ttggctggag aacttttaga agaaacaggg aaatgaccgg tggtgcggta acctgcgtgg
     1141 ctcctgatag cgtttggaag aacgcggggg agactgaaga gcaactggga actcggatct
     1201 gaagccctgc tggggtcgcg cggctttgga aaaacaaatc ctggccctgg actcggtttc
     1261 ccagcgcggt caacgcatct ggaggggact ggaggaaacc cccttgttgg aagagattcc
     1321 aagagaagca cggttttctc tttcccttgc cctgactgtt ggagtaaaaa acctcttaaa
     1381 tccattgtat cagaggtcct tacctctctg acagttacag tgatctttgt atctgaactt
     1441 tgcacgtctg ccgaaaaatc cgaacctgtt gactgggatt tttaagaatc cgtttctccc
     1501 ttttgtgtat tccatattgg ccggccccaa ggatgctcgc agaagccagc ccccaacccc
     1561 agcccttccg tatctttccc ctccatcgcg gctttgcgat gaaagattag cccgcgaaca
     1621 gaggcattga ttacaaacat gtccttggca gtggactctg ggcctggcca ttcttcaggt
     1681 ttctgtcaat ccagaaacgc gactttcctg gacccctgcg gctcttcctc ccccgcccac
     1741 atccagccct ccaaggccag tccagaggtg aagtttgagg ccctcccccc acccacccca
     1801 cacgcacgca cgcacgctag accgtttgct gcactaggaa ttcgagcttg ggccccactc
     1861 gcccaggtgt gaacagtggc tgattagtgg gcggtctagt ctctaaaatg acccctcccc
     1921 agactggccc ttctcgcatc gggacccgcg cttgcacgct gcaggagccg caaacgtcag
     1981 ctgttctgga aaccgagagg gtcccagaga gaggagatac gggcgcattt gagagcaagg
     2041 gcctacttgg ccgggactga agcttgcgag ttgagctcca gttcggccgg cagttccatc
     2101 ccgcttcagg aacaggaatc caagggccca cgctctgtct gccaagggcc attcctgccc
     2161 ggagcaccct cctttccctt gcgcttgctc tccggtacct gttcctcacc tgagctcaag
     2221 ggcagggaga ggccgggcct ctggcagtcc acgaaggaag ccgtctgcct tcggttatga
     2281 ttttaggaac aagtccaacg agggtgttca agcagttaat ggttgtgcta actcttgttt
     2341 ctactgaagc gggttttgca aagctgacat cccttaaaga taacttgggc tttcggaagc
     2401 ggcaaggaaa tggcacctgt agttgccagg acaggtggtg tcctcggcca ggactaagag
     2461 ccagctcatc tttgtaacat tcataatacg ggaaactgag gaccaggtgg ctcggaaaag
     2521 agatgagttc cagcttttac ctaacacagg gttctctcgt cgtcccccaa cccctccagc
     2581 tcggcttctt tgtgtccagg gttgtagatt tttggataga ggtgtttctg attctagtga
     2641 gtctgagaac tggaaaagac caaggagggg ttgatgattt acaaggtcca tagaaaaact
     2701 ttttgtgtgg tcggaagttg gccaagcaga ggcccacagc ctgatgctac tgccccccac
     2761 ccccccaaag atctgaattc cctaaagatc aagagggttc agctggcctt gggagatgtt
     2821 tgctggagaa tgacttcagt tttctcctaa ggcaatcaga ttgcaaccat tagcattgta
     2881 tcttatctgc aaatcagttt actccgaggt tccccaagga tagttttatt aggaccacag
     2941 gactttacta accactgagg taacacgctg cttgtgcagc aattattttg aggtggaggt
     3001 atttatggga caagtttata attccattta ttaaagggac taacctaaa
//
