LOCUS       NM_025092               3699 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens protein-glucosylgalactosylhydroxylysine glucosidase
            (PGGHG), mRNA.
ACCESSION   NM_025092
VERSION     NM_025092.5
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 3699)
  AUTHORS   Hamazaki,H. and Hamazaki,M.H.
  TITLE     Catalytic site of human protein-glucosylgalactosylhydroxylysine
            glucosidase: Three crucial carboxyl residues were determined by
            cloning and site-directed mutagenesis
  JOURNAL   Biochem Biophys Res Commun 469 (3), 357-362 (2016)
   PUBMED   26682924
REFERENCE   2  (bases 1 to 3699)
  AUTHORS   Wheeler,H.E., Metter,E.J., Tanaka,T., Absher,D., Higgins,J.,
            Zahn,J.M., Wilhelmy,J., Davis,R.W., Singleton,A., Myers,R.M.,
            Ferrucci,L. and Kim,S.K.
  TITLE     Sequential use of transcriptional profiling, expression
            quantitative trait mapping, and gene association implicates MMP20
            in human kidney aging
  JOURNAL   PLoS Genet 5 (10), e1000685 (2009)
   PUBMED   19834535
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (bases 1 to 3699)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC136475.7, CN298034.1, BP262327.1, BC109257.2, AL832932.1,
            BM842384.1, AI217945.1 and AI919161.1.
            
            On May 17, 2019 this sequence version replaced NM_025092.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: HM005338.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000409548.7/ ENSP00000387185.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                AC136475.7         73670-73681
            13-663              CN298034.1         2-652
            664-1127            BP262327.1         62-525
            1128-2597           BC109257.2         515-1984
            2598-2850           AL832932.1         1244-1496
            2851-3237           BM842384.1         51-437
            3238-3263           AI217945.1         18-43               c
            3264-3280           AI919161.1         3-19                c
            3281-3699           AC136475.7         80233-80651
FEATURES             Location/Qualifiers
     source          1..3699
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..3699
                     /gene="PGGHG"
                     /gene_synonym="ATHL1"
                     /note="protein-glucosylgalactosylhydroxylysine
                     glucosidase"
                     /db_xref="GeneID:80162"
                     /db_xref="HGNC:HGNC:26210"
                     /db_xref="MIM:617032"
     exon            1..114
                     /gene="PGGHG"
                     /gene_synonym="ATHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            115..386
                     /gene="PGGHG"
                     /gene_synonym="ATHL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             128..2341
                     /gene="PGGHG"
                     /gene_synonym="ATHL1"
                     /EC_number="3.2.1.107"
                     /note="acid trehalase-like protein 1; testicular tissue
                     protein Li 25; ATH1, acid trehalase-like 1"
                     /codon_start=1
                     /product="protein-glucosylgalactosylhydroxylysine
                     glucosidase"
                     /protein_id="NP_079368.3"
                     /db_xref="CCDS:CCDS31322.2"
                     /db_xref="GeneID:80162"
                     /db_xref="HGNC:HGNC:26210"
                     /db_xref="MIM:617032"
                     /translation="MEDAGEDPTTFAAHSLPSDPRLLATVTNAYLGTRVFHDTLHVSG
                     VYNGAGGDTHRAMLPSPLNVRLEAPAGMGEQLTETFALDTNTGSFLHTLEGPRFRASQ
                     CIYAHRTLPHVLAFRVSIARLAPGSGPITLLLRSAFSPESPDLDLHQGPDFQGARYLY
                     GHTLTPEQPGGPQQEVHMLWTPAPPDLTLGEGEEARTWDFLTAVGGSQAEAQACLTEA
                     LQLQARGALYTAHAQAWAQLWVECGLDVVGPLQLRQALRGSLYYLLSALPQPKAPGYI
                     CHGLSPGGLSNGSREECYWGHVFWDQDLWMFPSILMFHPEAARAILEYRIRTLDGALE
                     NAQNLGYQGAKFAWESADSGLEVCPEDIYGVQEVHVNGAVVLAFELYYHTTQDLQLFR
                     EAGGWDVVRAVAEFWCSRVEWSPREEKYHLRGVMSPDEYHSGVNNSVYTNVLVQNSLR
                     FAAALAQDLGLPIPSQWLAVADKIKVPFDVEQNFHPEFDGYEPGEVVKQADVVLLGYP
                     VPFSLSPDVRRKNLEIYEAVTSPQGPAMTWSMFAVGWMELKDAVRARGLLDRSFANMA
                     EPFKVWTENADGSGAVNFLTGMGGFLQAVVFGCTGFRVTRAGVTFDPVCLSGISRVSV
                     SGIFYQGNKLNFSFSEDSVTVEVTARAGPWAPHLEAELWPSQSRLSLLPGHKVSFPRS
                     AGRIQMSPPKLPGSSSSEFPGRTFSDVRDPLQSPLWVTLGSSSPTESLTVDPASE"
     exon            387..597
                     /gene="PGGHG"
                     /gene_synonym="ATHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            598..1033
                     /gene="PGGHG"
                     /gene_synonym="ATHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1034..1153
                     /gene="PGGHG"
                     /gene_synonym="ATHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1154..1285
                     /gene="PGGHG"
                     /gene_synonym="ATHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1286..1397
                     /gene="PGGHG"
                     /gene_synonym="ATHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1398..1470
                     /gene="PGGHG"
                     /gene_synonym="ATHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1471..1607
                     /gene="PGGHG"
                     /gene_synonym="ATHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1608..1741
                     /gene="PGGHG"
                     /gene_synonym="ATHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1742..1837
                     /gene="PGGHG"
                     /gene_synonym="ATHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1838..1935
                     /gene="PGGHG"
                     /gene_synonym="ATHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1936..2147
                     /gene="PGGHG"
                     /gene_synonym="ATHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2148..3699
                     /gene="PGGHG"
                     /gene_synonym="ATHL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2337..2342
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGGHG"
                     /gene_synonym="ATHL1"
                     /note="hexamer: AATAAT"
     polyA_site      2359
                     /gene="PGGHG"
                     /gene_synonym="ATHL1"
     regulatory      3242..3247
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGGHG"
                     /gene_synonym="ATHL1"
                     /note="hexamer: ATTAAA"
     polyA_site      3268
                     /gene="PGGHG"
                     /gene_synonym="ATHL1"
                     /note="major polyA site"
     polyA_site      3400
                     /gene="PGGHG"
                     /gene_synonym="ATHL1"
ORIGIN      
        1 gcggaccttc ctggtggcgc ggcagccggg cggctcctcc ttcctcccgg ccctggcgtg
       61 gagcagaggg acacaggttc ccacgctggc gcccggcgac cgggtggggc tgcggcccag
      121 cagctccatg gaggacgccg gcgaggaccc caccacgttt gctgcccact ctctgcccag
      181 tgacccccgt ctcttggcca ctgtgaccaa cgcatacctg ggcacacgag tgtttcacga
      241 cacgctgcac gtgagcggcg tgtacaatgg ggctggcggg gacacgcacc gggccatgct
      301 gcccagcccc ctcaacgtcc ggctggaggc ccctgcaggg atgggggagc agctgaccga
      361 gaccttcgcc ctggacacca acacaggctc ctttcttcac accctggagg gcccccgctt
      421 ccgggcctcc cagtgcatct atgcgcatcg cacgctgccc cacgtgctgg ctttccgagt
      481 gtccatcgcc cgcctggccc cggggagcgg gcccatcacg ctgctcctgc ggtcagcctt
      541 ctccccagaa agcccagacc tggacctgca tcagggtcct gacttccagg gagcccggta
      601 cctgtatggc cacaccctca cccctgagca gcccgggggg ccacagcaag aggtacacat
      661 gctgtggaca ccagcacccc cagacctgac ccttggggaa ggtgaggagg ctaggacgtg
      721 ggacttcctg acagcagtgg gcggcagcca ggctgaggct caggcctgcc tcactgaggc
      781 cctgcagctg caggccaggg gagctctgta tacggctcac gcacaggcct gggcccagct
      841 ctgggtagaa tgtggcttgg acgtggtggg gcccctgcag ctgcgccagg ccctgcgtgg
      901 ctccctctac tacctgctca gtgccctgcc ccagcccaag gccccaggat acatctgcca
      961 tggcctcagt cctgggggcc tctccaatgg gagccgtgag gaatgctact ggggccacgt
     1021 cttctgggac caggacctct ggatgttccc gagtatcctg atgttccacc cagaagccgc
     1081 cagggccatc ctggagtacc gcatccgcac gctggacggg gccctggaga acgcccagaa
     1141 cctgggctac cagggagcca agtttgcctg ggagagtgca gactccggcc tagaggtttg
     1201 ccctgaggac atttacggag tccaggaggt ccacgtcaac ggggccgtgg tgttggcctt
     1261 cgagctgtac taccatacca cccaggacct gcagctattt cgagaggctg gtggctggga
     1321 cgtggtcagg gctgtggccg agttttggtg cagtcgtgtt gagtggagcc ccagggagga
     1381 aaagtaccac ctgaggggag tcatgtcccc cgacgagtac cattcagggg tcaacaactc
     1441 tgtgtacacc aacgtcctgg tccagaacag cctgcgcttt gctgctgccc tggcccagga
     1501 cctgggtctt cccatcccca gccagtggct ggcggtggct gacaagatca aggtaccctt
     1561 tgacgtggag cagaacttcc acccggagtt cgatgggtat gagcctggag aggtggtgaa
     1621 gcaggcagac gtcgtgctcc tgggataccc agtccccttc tccctgagtc ctgatgttcg
     1681 caggaaaaat ctggagattt acgaggctgt gacgtccccc cagggccccg ccatgacctg
     1741 gagcatgttt gctgtgggct ggatggagct gaaggacgca gtgcgggccc ggggcctcct
     1801 ggacaggagc tttgccaaca tggctgaacc cttcaaggtg tggacggaga atgcagacgg
     1861 gtcaggcgct gtgaacttcc tgacaggcat ggggggcttc ctgcaggcgg tggtcttcgg
     1921 gtgcacgggg ttcagggtca cccgagcggg tgtgaccttt gaccctgtgt gtctgtcggg
     1981 gatctccaga gtgagcgtct ccggcatctt ctaccagggg aacaagctca acttctcttt
     2041 ttccgaggac tccgtgaccg tggaggtcac agctcgagca gggccctggg ctcctcacct
     2101 ggaggctgag ctgtggccat cccagtcccg gctctccctg ttgccaggac acaaggtctc
     2161 ctttccccgc tcggctggcc ggatacaaat gtcacccccg aagctgcctg gaagttccag
     2221 ctccgagttc cctgggagga ctttttcaga tgttagggac ccgctccaga gccccctctg
     2281 ggtcaccctg ggttcctcca gccccaccga gtcactcact gtggaccctg cctctgaata
     2341 atcaggaacg gtggcttcag agacgtctct tgggccttcc ctctggccac gtctgcaccc
     2401 acccctcctg ggcaccctcc tagcctgcca tccctcacct gcagccaggc tctcagggaa
     2461 ggtccatgct gcttggcctg agttcaaggc tttctgcctg tagcctggac tcccgtggac
     2521 ccccgtgggc aggtggcttc cccgtggcat ctccacaccg cctctgcctg cccctgtgga
     2581 ctgatgctat cgcgcaccgt cccacgaccc caccccgagc tcctgaagcc ggggtctgag
     2641 cctgcatcac ctctggcctc tcatccccca ctctcctgag agcagtggtc acagcggccg
     2701 gccgctctgc tgagaaggca gagaggcagg ctcaggcctc agcgtggaca gcagggataa
     2761 ggggcacgaa ggacggggac tcggcccctt cagaattcct caggactctc aggtgcagct
     2821 ttgccaaaaa ggaacttttc atgtcatgca gttgagggga cttagtctca atcccaggct
     2881 cctcttgact ctgggcagct ttaatcaggt tgggcagcct ctgctacagc gtggggtggg
     2941 atggctctct tccctcagcc acgccgcttg tgaggacaga ggtgggggag tgggaagtgg
     3001 gaagtcacca gagaacagga gagggatttg agggcgagac cccagcgctc tccacggacc
     3061 agccagaggg actggagcca ggtgtgcatg ggttcaaggc cctggccctg cccagccttt
     3121 gtcttgggag ctcagcccca gggttcggtc gtcagcagtt tcccaagaac aagatgtgat
     3181 ggcatctgct gctgaaaccc tgatgaggac caggccccct gcaccgctgt cagcctgagg
     3241 aattaaagct ttggtgctgg ggagagcatt attcctctga ggagccgctg tgcttccttc
     3301 tgaagtgagg gccgtgcccc gggtcccatt tctcctttca cttgagtcgg gaagcacagc
     3361 aactttaagg ctcgcgccca gcaacatggc tcccctcgca tctgcatctc cctcctgctc
     3421 tggtgttgcc gctgcaccct gtcctcggag gacagcagag gtttggacgg agactcaggg
     3481 agggagggaa ggaggcaagg acgcctgtgg aaacatcttt caggcagctc tagggtctgg
     3541 gggccaggat gcctgggtct cccaaggcct gtctgctgtc tctgccaccc tcagcggctg
     3601 ccagaagcag cgtgtggggg aggcatgtgc tgcagcacac ctgcggccga gaccagcact
     3661 cagaggtcgg ctcccctgac aggaaccgtg tagggtgca
//
