LOCUS       NM_005155               1906 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens palmitoyl-protein thioesterase 2 (PPT2), transcript
            variant 1, mRNA.
ACCESSION   NM_005155
VERSION     NM_005155.7
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 1906)
  AUTHORS   Guan,W., Steffen,B.T., Lemaitre,R.N., Wu,J.H.Y., Tanaka,T.,
            Manichaikul,A., Foy,M., Rich,S.S., Wang,L., Nettleton,J.A.,
            Tang,W., Gu,X., Bandinelli,S., King,I.B., McKnight,B., Psaty,B.M.,
            Siscovick,D., Djousse,L., Chen,Y.I., Ferrucci,L., Fornage,M.,
            Mozafarrian,D., Tsai,M.Y. and Steffen,L.M.
  TITLE     Genome-wide association study of plasma N6 polyunsaturated fatty
            acids within the cohorts for heart and aging research in genomic
            epidemiology consortium
  JOURNAL   Circ Cardiovasc Genet 7 (3), 321-331 (2014)
   PUBMED   24823311
REFERENCE   2  (bases 1 to 1906)
  AUTHORS   Kim,W.J., Lee,M.K., Shin,C., Cho,N.H., Lee,S.D., Oh,Y.M. and
            Sung,J.
  TITLE     Genome-wide association studies identify locus on 6p21 influencing
            lung function in the Korean population
  JOURNAL   Respirology 19 (3), 360-368 (2014)
   PUBMED   24387323
  REMARK    GeneRIF: We identified that PPT2 on chromosome 6p21 is associated
            with loss of lung function in the Korean population.
REFERENCE   3  (bases 1 to 1906)
  AUTHORS   Wu,J.H., Lemaitre,R.N., Manichaikul,A., Guan,W., Tanaka,T., Foy,M.,
            Kabagambe,E.K., Djousse,L., Siscovick,D., Fretts,A.M., Johnson,C.,
            King,I.B., Psaty,B.M., McKnight,B., Rich,S.S., Chen,Y.D.,
            Nettleton,J.A., Tang,W., Bandinelli,S., Jacobs,D.R. Jr.,
            Browning,B.L., Laurie,C.C., Gu,X., Tsai,M.Y., Steffen,L.M.,
            Ferrucci,L., Fornage,M. and Mozaffarian,D.
  TITLE     Genome-wide association study identifies novel loci associated with
            concentrations of four plasma phospholipid fatty acids in the de
            novo lipogenesis pathway: results from the Cohorts for Heart and
            Aging Research in Genomic Epidemiology (CHARGE) consortium
  JOURNAL   Circ Cardiovasc Genet 6 (2), 171-183 (2013)
   PUBMED   23362303
REFERENCE   4  (bases 1 to 1906)
  AUTHORS   Xie,T., Rowen,L., Aguado,B., Ahearn,M.E., Madan,A., Qin,S.,
            Campbell,R.D. and Hood,L.
  TITLE     Analysis of the gene-dense major histocompatibility complex class
            III region and its comparison to mouse
  JOURNAL   Genome Res 13 (12), 2621-2636 (2003)
   PUBMED   14656967
REFERENCE   5  (bases 1 to 1906)
  AUTHORS   Calero,G., Gupta,P., Nonato,M.C., Tandel,S., Biehl,E.R.,
            Hofmann,S.L. and Clardy,J.
  TITLE     The crystal structure of palmitoyl protein thioesterase-2 (PPT2)
            reveals the basis for divergent substrate specificities of the two
            lysosomal thioesterases, PPT1 and PPT2
  JOURNAL   J Biol Chem 278 (39), 37957-37964 (2003)
   PUBMED   12855696
  REMARK    GeneRIF: The crystal structure of palmitoyl protein thioesterase-2
            (PPT2) reveals the basis for divergent substrate specificities of
            the two lysosomal thioesterases, PPT1 and PPT2.
REFERENCE   6  (bases 1 to 1906)
  AUTHORS   Gupta,P., Soyombo,A.A., Atashband,A., Wisniewski,K.E.,
            Shelton,J.M., Richardson,J.A., Hammer,R.E. and Hofmann,S.L.
  TITLE     Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in
            knockout mice
  JOURNAL   Proc Natl Acad Sci U S A 98 (24), 13566-13571 (2001)
   PUBMED   11717424
REFERENCE   7  (bases 1 to 1906)
  AUTHORS   Aguado,B. and Campbell,R.D.
  TITLE     Characterization of a human MHC class III region gene product with
            S-thioesterase activity
  JOURNAL   Biochem J 341 (Pt 3) (Pt 3), 679-689 (1999)
   PUBMED   10417332
REFERENCE   8  (bases 1 to 1906)
  AUTHORS   Soyombo,A.A., Yi,W. and Hofmann,S.L.
  TITLE     Structure of the human palmitoyl-protein thioesterase-2 gene (PPT2)
            in the major histocompatibility complex on chromosome 6p21.3
  JOURNAL   Genomics 56 (2), 208-216 (1999)
   PUBMED   10051407
REFERENCE   9  (bases 1 to 1906)
  AUTHORS   Soyombo,A.A. and Hofmann,S.L.
  TITLE     Molecular cloning and expression of palmitoyl-protein thioesterase
            2 (PPT2), a homolog of lysosomal palmitoyl-protein thioesterase
            with a distinct substrate specificity
  JOURNAL   J Biol Chem 272 (43), 27456-27463 (1997)
   PUBMED   9341199
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF020543.1, DA153675.1 and
            AI472281.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_005155.6.
            
            Summary: This gene encodes a member of the palmitoyl-protein
            thioesterase family. The encoded glycosylated lysosomal protein has
            palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze
            palmitate from cysteine residues in proteins. Alternative splicing
            results in multiple transcript variants. Read-through transcription
            also exists between this gene and the downstream EGFL8
            (EGF-like-domain, multiple 8) gene. [provided by RefSeq, Feb 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the shorter isoform (a). Both variants 1 and
            3 encode the same isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC001355.2, AF020543.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000324816.11/ ENSP00000320528.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-286               AF020543.1         88-373
            287-352             DA153675.1         262-327
            353-1358            AF020543.1         440-1445
            1359-1905           AF020543.1         1447-1993
            1906-1906           AI472281.1         16-16               c
FEATURES             Location/Qualifiers
     source          1..1906
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.32"
     gene            1..1906
                     /gene="PPT2"
                     /gene_synonym="C6orf8; G14; PPT-2"
                     /note="palmitoyl-protein thioesterase 2"
                     /db_xref="GeneID:9374"
                     /db_xref="HGNC:HGNC:9326"
                     /db_xref="MIM:603298"
     exon            1..264
                     /gene="PPT2"
                     /gene_synonym="C6orf8; G14; PPT-2"
                     /inference="alignment:Splign:2.1.0"
     exon            265..455
                     /gene="PPT2"
                     /gene_synonym="C6orf8; G14; PPT-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             273..1181
                     /gene="PPT2"
                     /gene_synonym="C6orf8; G14; PPT-2"
                     /EC_number="3.1.2.22"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; palmitoyl-protein hydrolase 2; lysosomal
                     thioesterase PPT2; VE-statin2; S-thioesterase G14"
                     /codon_start=1
                     /product="lysosomal thioesterase PPT2 isoform a precursor"
                     /protein_id="NP_005146.4"
                     /db_xref="CCDS:CCDS4742.1"
                     /db_xref="GeneID:9374"
                     /db_xref="HGNC:HGNC:9326"
                     /db_xref="MIM:603298"
                     /translation="MLGLCGQRLPAAWVLLLLPFLPLLLLAAPAPHRASYKPVIVVHG
                     LFDSSYSFRHLLEYINETHPGTVVTVLDLFDGRESLRPLWEQVQGFREAVVPIMAKAP
                     QGVHLICYSQGGLVCRALLSVMDDHNVDSFISLSSPQMGQYGDTDYLKWLFPTSMRSN
                     LYRICYSPWGQEFSICNYWHDPHHDDLYLNASSFLALINGERDHPNATVWRKNFLRVG
                     HLVLIGGPDDGVITPWQSSFFGFYDANETVLEMEEQLVYLRDSFGLKTLLARGAIVRC
                     PMAGISHTAWHSNRTLYETCIEPWLS"
     exon            456..609
                     /gene="PPT2"
                     /gene_synonym="C6orf8; G14; PPT-2"
                     /inference="alignment:Splign:2.1.0"
     exon            610..705
                     /gene="PPT2"
                     /gene_synonym="C6orf8; G14; PPT-2"
                     /inference="alignment:Splign:2.1.0"
     exon            706..813
                     /gene="PPT2"
                     /gene_synonym="C6orf8; G14; PPT-2"
                     /inference="alignment:Splign:2.1.0"
     exon            814..897
                     /gene="PPT2"
                     /gene_synonym="C6orf8; G14; PPT-2"
                     /inference="alignment:Splign:2.1.0"
     exon            898..982
                     /gene="PPT2"
                     /gene_synonym="C6orf8; G14; PPT-2"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1037
                     /gene="PPT2"
                     /gene_synonym="C6orf8; G14; PPT-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1038..1906
                     /gene="PPT2"
                     /gene_synonym="C6orf8; G14; PPT-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1887..1892
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PPT2"
                     /gene_synonym="C6orf8; G14; PPT-2"
                     /note="hexamer: AATAAA"
     polyA_site      1906
                     /gene="PPT2"
                     /gene_synonym="C6orf8; G14; PPT-2"
                     /note="major polyA site"
ORIGIN      
        1 gtcattcccc tgcgctctct ttcctcaccc ttccccccgc caccgtgggt tccagacttg
       61 ggataagtaa acagcgggtg gagcgaggcc tacggaccca ggccaggtgg gagtctgcac
      121 tcttcaaggg gcctgggctg ctgctcacgg gtattaaaga actccgcgtt gttcatggct
      181 gaggcgatgc attaggaaga tcctggacct agagaacaag tcccccgaac gctgagttgg
      241 aggcgggact tcgggtgcgc gttggcggga gcatgctggg gctctgcggg cagcggctcc
      301 ccgcggcgtg ggtcctgctt ctgttgcctt tcctgccgct gctgctgctt gcagcccccg
      361 cgccccaccg cgcgtcctac aagccggtca tcgtggtgca tgggctcttc gacagctcgt
      421 acagcttccg ccacctgctg gaatacatca atgagacaca ccccgggact gtggtgacag
      481 tgctcgatct cttcgatggg agagagagct tgcgacccct gtgggaacag gtgcaagggt
      541 tccgagaggc tgtggtcccc atcatggcaa aggcccctca aggggtgcat ctcatctgct
      601 actcgcaggg gggccttgtg tgccgggctc tgctttctgt catggatgat cacaacgtgg
      661 attctttcat ctccctctcc tctccacaga tgggacagta tggagacacg gactacttga
      721 agtggctgtt ccccacctcc atgcggtcta acctctatcg gatctgctat agcccctggg
      781 gccaggaatt ctccatctgc aactactggc atgatcccca ccacgatgac ttgtacctca
      841 atgccagcag cttcctggcc ctgatcaatg gggaaagaga ccatcccaat gccacagtat
      901 ggcggaagaa ctttctgcgt gtgggccacc tggtgctgat tgggggccct gatgatggtg
      961 ttattactcc ctggcagtcc agcttctttg gtttctatga tgcaaatgag accgtcctgg
     1021 agatggagga gcaactggtt tatctgcggg attcttttgg gttgaagact ctattggccc
     1081 ggggggccat agtgaggtgt ccaatggccg gtatctccca cacagcctgg cactccaacc
     1141 gtacccttta tgagacctgc attgaacctt ggctctcctg aggatatatt caggggtccc
     1201 caggaactcc tcggtccaga gaccaagtgg tggccttgga aagcagatgt caggctttgg
     1261 tgtgcctgtg accacctcat tgctcccata ttatccccca tttttagtag agacggggtt
     1321 ttagtagaga cttggcctcc cagaaccccc ttcctctgct cctccatgaa tgacaattcc
     1381 aggcctcccc tacctcatgt cctctcattt gggggattgc tccgtgctgt ccctttctct
     1441 caaggccgaa gttgggaagt gagaaaccat gtttttaact tgtggctgct tttgctgctg
     1501 ctgctcctcc gtatctggct gtatgggtgg agaacccacc ccctgcccac cacaggggtc
     1561 tccttccagg ccactcagga catttttagc ttctctcctc cccatgttcc cttttttctc
     1621 taaagtcccc tgacatcagc cctcccaact cctaagaggg actacccatg agagtggggt
     1681 tctgaggctc ccctatgggg acagttccgt tcttgaagtg tcagtgttgg ggaatatctg
     1741 tggcctatga ggcccatctc aggtttgggg atcccccagt ccctatgatc agtgttggag
     1801 tacccccctg ggagagccta gtttctttga ggccccaggc cctcttttaa ctacctttga
     1861 ataggtgtta tccctgtatt tatggaaata aagttccatt tcctca
//
