LOCUS       NM_001322279            3099 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens methionyl aminopeptidase type 1D, mitochondrial
            (METAP1D), transcript variant 3, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001322279 XM_011510897
VERSION     NM_001322279.2
KEYWORDS    RefSeq.
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 3099)
  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 3099)
  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 3099)
  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 3099)
  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 3099)
  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 3099)
  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 3099)
  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 3099)
  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 3099)
  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 3099)
  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, AC114745.6, AC015976.8 and BM982111.1.
            
            On May 31, 2019 this sequence version replaced NM_001322279.1.
            
            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 :: SRR14038194.2897602.1,
                                           SRR18074967.1270459.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-57                AY374142.1         57-113
            58-107              AC114745.6         97855-97904
            108-1528            AY374142.1         114-1534
            1529-2490           AC015976.8         153928-154889
            2491-3099           BM982111.1         16-624              c
FEATURES             Location/Qualifiers
     source          1..3099
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     gene            1..3099
                     /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..107
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /inference="alignment:Splign:2.1.0"
     exon            108..265
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /inference="alignment:Splign:2.1.0"
     exon            266..415
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /inference="alignment:Splign:2.1.0"
     exon            416..564
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /inference="alignment:Splign:2.1.0"
     CDS             422..1075
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /EC_number="3.4.11.18"
                     /note="isoform 2 is encoded by transcript variant 3;
                     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 2"
                     /protein_id="NP_001309208.1"
                     /db_xref="GeneID:254042"
                     /db_xref="HGNC:HGNC:32583"
                     /db_xref="MIM:610267"
                     /translation="MTTEEIDALVHREIISHNAYPSPLGYGGFPKSVCTSVNNVLCHG
                     IPDSRPLQDGDIINIDVTVYYNGYHGDTSETFLVGNVDECGKKLVEVARRCRDEAIAA
                     CRAGAPFSVIGNTISHITHQNGFQVCPHFVGHGIGSYFHGHPEIWHHANDSDLPMEEG
                     MAFTIEPIITEGSPEFKVLEDAWTVVSLDNQRSAQFEHTVLITSRGAQILTKLPHEA"
     exon            565..607
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /inference="alignment:Splign:2.1.0"
     exon            608..771
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /inference="alignment:Splign:2.1.0"
     exon            772..869
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /inference="alignment:Splign:2.1.0"
     exon            870..917
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /inference="alignment:Splign:2.1.0"
     exon            918..996
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /inference="alignment:Splign:2.1.0"
     exon            997..3099
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3080..3085
                     /regulatory_class="polyA_signal_sequence"
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /note="hexamer: ATTAAA"
     polyA_site      3099
                     /gene="METAP1D"
                     /gene_synonym="MAP 1D; MAP1D; MetAP 1D; Metap1l"
                     /note="major polyA site"
ORIGIN      
        1 acgtgaccga cgccaacatg gcggcgccca gtggcgtcca cctgctcgtc cgcagaggta
       61 agcgcgtgga ggagagcccc gtgagggttc gcacggttgc tcactaggtt ctcatagaat
      121 tttctcttca ccactcaatc atatctactt acacaagcag tcaagcagtc aacaaagaag
      181 aaatttcttt tttcggagac aaagagatat ttcacacagt atagttttgc cggctgcagt
      241 ttcttcagct catccggttc ctaagcacat aaagaagcca gactatgtga cgacaggcat
      301 tgtaccagac tggggagaca gcatagaagt taagaatgaa gatcagattc aagggcttca
      361 tcaggcttgt cagctggccc gccacgtcct cctcttggct gggaagagtt taaaggttga
      421 catgacaact gaagagatag atgctcttgt tcatcgggaa atcatcagtc ataatgccta
      481 tccctcacct ctaggctatg gaggttttcc aaaatctgtt tgtacctctg taaacaacgt
      541 gctctgtcat ggtattcctg acagtcgacc tcttcaggat ggagatatta tcaacattga
      601 tgtcacagtc tattacaatg gctaccatgg agacacctct gaaacatttt tggtgggcaa
      661 tgtggacgaa tgtggtaaaa agttagtgga ggttgccagg aggtgtagag atgaagcaat
      721 tgcagcttgc agagcagggg ctcccttctc tgtaattgga aacacaatca gccacataac
      781 tcatcagaat ggttttcaag tctgtccaca ttttgtggga catggaatag gatcttactt
      841 tcatggacat ccagaaattt ggcatcatgc aaacgacagt gatctaccca tggaggaggg
      901 catggcattc actatagagc caatcatcac ggagggatcc cctgaattta aagtcctgga
      961 ggatgcatgg actgtggtct ccctagacaa tcaaaggtcg gcgcagttcg agcacacggt
     1021 tctgatcacg tcgaggggcg cgcagatcct gaccaaacta ccccatgagg cctgaggagc
     1081 cgcccgaagg tcgcggtgac ctggtgcctt tttaaataaa ttgctgaaat ttggctggag
     1141 aacttttaga agaaacaggg aaatgaccgg tggtgcggta acctgcgtgg ctcctgatag
     1201 cgtttggaag aacgcggggg agactgaaga gcaactggga actcggatct gaagccctgc
     1261 tggggtcgcg cggctttgga aaaacaaatc ctggccctgg actcggtttc ccagcgcggt
     1321 caacgcatct ggaggggact ggaggaaacc cccttgttgg aagagattcc aagagaagca
     1381 cggttttctc tttcccttgc cctgactgtt ggagtaaaaa acctcttaaa tccattgtat
     1441 cagaggtcct tacctctctg acagttacag tgatctttgt atctgaactt tgcacgtctg
     1501 ccgaaaaatc cgaacctgtt gactgggatt tttaagaatc cgtttctccc ttttgtgtat
     1561 tccatattgg ccggccccaa ggatgctcgc agaagccagc ccccaacccc agcccttccg
     1621 tatctttccc ctccatcgcg gctttgcgat gaaagattag cccgcgaaca gaggcattga
     1681 ttacaaacat gtccttggca gtggactctg ggcctggcca ttcttcaggt ttctgtcaat
     1741 ccagaaacgc gactttcctg gacccctgcg gctcttcctc ccccgcccac atccagccct
     1801 ccaaggccag tccagaggtg aagtttgagg ccctcccccc acccacccca cacgcacgca
     1861 cgcacgctag accgtttgct gcactaggaa ttcgagcttg ggccccactc gcccaggtgt
     1921 gaacagtggc tgattagtgg gcggtctagt ctctaaaatg acccctcccc agactggccc
     1981 ttctcgcatc gggacccgcg cttgcacgct gcaggagccg caaacgtcag ctgttctgga
     2041 aaccgagagg gtcccagaga gaggagatac gggcgcattt gagagcaagg gcctacttgg
     2101 ccgggactga agcttgcgag ttgagctcca gttcggccgg cagttccatc ccgcttcagg
     2161 aacaggaatc caagggccca cgctctgtct gccaagggcc attcctgccc ggagcaccct
     2221 cctttccctt gcgcttgctc tccggtacct gttcctcacc tgagctcaag ggcagggaga
     2281 ggccgggcct ctggcagtcc acgaaggaag ccgtctgcct tcggttatga ttttaggaac
     2341 aagtccaacg agggtgttca agcagttaat ggttgtgcta actcttgttt ctactgaagc
     2401 gggttttgca aagctgacat cccttaaaga taacttgggc tttcggaagc ggcaaggaaa
     2461 tggcacctgt agttgccagg acaggtggtg tcctcggcca ggactaagag ccagctcatc
     2521 tttgtaacat tcataatacg ggaaactgag gaccaggtgg ctcggaaaag agatgagttc
     2581 cagcttttac ctaacacagg gttctctcgt cgtcccccaa cccctccagc tcggcttctt
     2641 tgtgtccagg gttgtagatt tttggataga ggtgtttctg attctagtga gtctgagaac
     2701 tggaaaagac caaggagggg ttgatgattt acaaggtcca tagaaaaact ttttgtgtgg
     2761 tcggaagttg gccaagcaga ggcccacagc ctgatgctac tgccccccac ccccccaaag
     2821 atctgaattc cctaaagatc aagagggttc agctggcctt gggagatgtt tgctggagaa
     2881 tgacttcagt tttctcctaa ggcaatcaga ttgcaaccat tagcattgta tcttatctgc
     2941 aaatcagttt actccgaggt tccccaagga tagttttatt aggaccacag gactttacta
     3001 accactgagg taacacgctg cttgtgcagc aattattttg aggtggaggt atttatggga
     3061 caagtttata attccattta ttaaagggac taacctaaa
//
