LOCUS       NM_032520               1975 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens N-acetylglucosamine-1-phosphate transferase subunit
            gamma (GNPTG), mRNA.
ACCESSION   NM_032520
VERSION     NM_032520.5
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 1975)
  AUTHORS   Di Lorenzo,G., Westermann,L.M., Yorgan,T.A., Sturznickel,J.,
            Ludwig,N.F., Ammer,L.S., Baranowsky,A., Ahmadi,S.,
            Pourbarkhordariesfandabadi,E., Breyer,S.R., Board,T.N., Foster,A.,
            Mercer,J., Tylee,K., Velho,R.V., Schweizer,M., Renne,T.,
            Braulke,T., Randon,D.N., Sperb-Ludwig,F., de Camargo Pinto,L.L.,
            Moreno,C.A., Cavalcanti,D.P., Amling,M., Kutsche,K., Winter,D.,
            Muschol,N.M., Schwartz,I.V.D., Rolvien,T., Danyukova,T., Schinke,T.
            and Pohl,S.
  TITLE     Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits
            of GlcNAc-1-phosphotransferase differentially impact bone
            resorption in patients with mucolipidosis type II and III
  JOURNAL   Genet Med 23 (12), 2369-2377 (2021)
   PUBMED   34341521
  REMARK    GeneRIF: Pathogenic variants in GNPTAB and GNPTG encoding distinct
            subunits of GlcNAc-1-phosphotransferase differentially impact bone
            resorption in patients with mucolipidosis type II and III.
REFERENCE   2  (bases 1 to 1975)
  AUTHORS   Tiede,S., Hundt,J.E. and Paus,R.
  TITLE     UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator
            of Human and Mouse Hair Pigmentation
  JOURNAL   J Invest Dermatol 141 (12), 2957-2965 (2021)
   PUBMED   34116066
  REMARK    GeneRIF: UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important
            Regulator of Human and Mouse Hair Pigmentation.
REFERENCE   3  (bases 1 to 1975)
  AUTHORS   Dogan,M., Eroz,R., Terali,K., Gezdirici,A. and Bolu,S.
  TITLE     Clinical, radiological and computational studies on two novel GNPTG
            variants causing mucolipidosis III gamma phenotypes with varying
            severity
  JOURNAL   Mol Biol Rep 48 (2), 1465-1474 (2021)
   PUBMED   33507475
  REMARK    GeneRIF: Clinical, radiological and computational studies on two
            novel GNPTG variants causing mucolipidosis III gamma phenotypes
            with varying severity.
REFERENCE   4  (bases 1 to 1975)
  AUTHORS   Pasumarthi,D., Gupta,N., Sheth,J., Jain,S.J.M.N., Rungsung,I.,
            Kabra,M., Ranganath,P., Aggarwal,S., Phadke,S.R., Girisha,K.M.,
            Shukla,A., Datar,C., Verma,I.C., Puri,R.D., Bhavsar,R., Mistry,M.,
            Sankar,V.H., Gowrishankar,K., Agrawal,D., Nair,M., Danda,S.,
            Soni,J.P. and Dalal,A.
  TITLE     Identification and characterization of 30 novel pathogenic
            variations in 69 unrelated Indian patients with Mucolipidosis Type
            II and Type III
  JOURNAL   J Hum Genet 65 (11), 971-984 (2020)
   PUBMED   32651481
  REMARK    GeneRIF: Identification and characterization of 30 novel pathogenic
            variations in 69 unrelated Indian patients with Mucolipidosis Type
            II and Type III.
REFERENCE   5  (bases 1 to 1975)
  AUTHORS   Persichetti,E., Chuzhanova,N.A., Dardis,A., Tappino,B., Pohl,S.,
            Thomas,N.S., Rosano,C., Balducci,C., Paciotti,S., Dominissini,S.,
            Montalvo,A.L., Sibilio,M., Parini,R., Rigoldi,M., Di Rocco,M.,
            Parenti,G., Orlacchio,A., Bembi,B., Cooper,D.N., Filocamo,M. and
            Beccari,T.
  TITLE     Identification and molecular characterization of six novel
            mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma
            subunit (GNPTG) gene in patients with mucolipidosis III gamma
  JOURNAL   Hum Mutat 30 (6), 978-984 (2009)
   PUBMED   19370764
  REMARK    GeneRIF: The mutational spectrum of the GNPTG gene is strongly
            influenced by the properties of the local DNA sequence environment.
REFERENCE   6  (bases 1 to 1975)
  AUTHORS   Gonzalez-Begne,M., Lu,B., Han,X., Hagen,F.K., Hand,A.R.,
            Melvin,J.E. and Yates,J.R.
  TITLE     Proteomic analysis of human parotid gland exosomes by
            multidimensional protein identification technology (MudPIT)
  JOURNAL   J Proteome Res 8 (3), 1304-1314 (2009)
   PUBMED   19199708
REFERENCE   7  (bases 1 to 1975)
  AUTHORS   Kim,J.M., Lee,K.H., Jeon,Y.J., Oh,J.H., Jeong,S.Y., Song,I.S.,
            Kim,J.M., Lee,D.S. and Kim,N.S.
  TITLE     Identification of genes related to Parkinson's disease using
            expressed sequence tags
  JOURNAL   DNA Res 13 (6), 275-286 (2006)
   PUBMED   17213182
REFERENCE   8  (bases 1 to 1975)
  AUTHORS   Raas-Rothschild,A., Cormier-Daire,V., Bao,M., Genin,E., Salomon,R.,
            Brewer,K., Zeigler,M., Mandel,H., Toth,S., Roe,B., Munnich,A. and
            Canfield,W.M.
  TITLE     Molecular basis of variant pseudo-hurler polydystrophy
            (mucolipidosis IIIC)
  JOURNAL   J Clin Invest 105 (5), 673-681 (2000)
   PUBMED   10712439
REFERENCE   9  (bases 1 to 1975)
  AUTHORS   Raas-Rothschild,A. and Spiegel,R.
  TITLE     Mucolipidosis III Gamma
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301784
REFERENCE   10 (bases 1 to 1975)
  AUTHORS   Ben-Yoseph,Y., Potier,M., Pack,B.A., Mitchell,D.A., Melancon,S.B.
            and Nadler,H.L.
  TITLE     Molecular size of N-acetylglucosaminylphosphotransferase and
            alpha-N-acetylglucosaminyl phosphodiesterase as determined in situ
            in Golgi membranes by radiation inactivation
  JOURNAL   Biochem J 235 (3), 883-886 (1986)
   PUBMED   3019310
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DT219524.1, BC014592.1,
            AK312067.1, AY203933.1 and AL031709.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_032520.4.
            
            Summary: This gene encodes the gamma sunbunit of the
            N-acetylglucosamine-1-phosphotransferase complex. This hexameric
            complex, composed of alpha, beta and gamma subunits, catalyzes the
            first step in synthesis of a mannose 6-phosphate lysosomal
            recognition marker. This enzyme complex is necessary for targeting
            of lysosomal hydrolases to the lysosome. Mutations in the gene
            encoding the gamma subunit have been associated with mucolipidosis
            IIIC, also known as mucolipidosis III gamma.[provided by RefSeq,
            Feb 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK312067.1, SRR1660803.200444.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000204679.9/ ENSP00000204679.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 DT219524.1         34-42
            10-704              BC014592.1         5-699
            705-707             AK312067.1         705-707
            708-1211            BC014592.1         700-1203
            1212-1213           AY203933.1         1174-1175
            1214-1975           AL031709.12        31423-32184
FEATURES             Location/Qualifiers
     source          1..1975
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1975
                     /gene="GNPTG"
                     /gene_synonym="C16orf27; GNPTAG; LP2537; RJD9"
                     /note="N-acetylglucosamine-1-phosphate transferase subunit
                     gamma"
                     /db_xref="GeneID:84572"
                     /db_xref="HGNC:HGNC:23026"
                     /db_xref="MIM:607838"
     exon            1..87
                     /gene="GNPTG"
                     /gene_synonym="C16orf27; GNPTAG; LP2537; RJD9"
                     /inference="alignment:Splign:2.1.0"
     CDS             36..953
                     /gene="GNPTG"
                     /gene_synonym="C16orf27; GNPTAG; LP2537; RJD9"
                     /note="UDP-N-acetylglucosamine-1-phosphotransferase
                     subunit gamma; glcNAc-1-phosphotransferase subunit gamma;
                     N-acetylglucosamine-1-phosphate transferase gamma subunit"
                     /codon_start=1
                     /product="N-acetylglucosamine-1-phosphotransferase subunit
                     gamma precursor"
                     /protein_id="NP_115909.1"
                     /db_xref="CCDS:CCDS10436.1"
                     /db_xref="GeneID:84572"
                     /db_xref="HGNC:HGNC:23026"
                     /db_xref="MIM:607838"
                     /translation="MAAGLARLLLLLGLSAGGPAPAGAAKMKVVEEPNAFGVNNPFLP
                     QASRLQAKRDPSPVSGPVHLFRLSGKCFSLVESTYKYEFCPFHNVTQHEQTFRWNAYS
                     GILGIWHEWEIANNTFTGMWMRDGDACRSRSRQSKVELACGKSNRLAHVSEPSTCVYA
                     LTFETPLVCHPHALLVYPTLPEALQRQWDQVEQDLADELITPQGHEKLLRTLFEDAGY
                     LKTPEENEPTQLEGGPDSLGFETLENCRKAHKELSKEIKRLKGLLTQHGIPYTRPTET
                     SNLEHLGHETPRAKSPEQLRGDPGLRGSL"
     exon            88..145
                     /gene="GNPTG"
                     /gene_synonym="C16orf27; GNPTAG; LP2537; RJD9"
                     /inference="alignment:Splign:2.1.0"
     exon            146..213
                     /gene="GNPTG"
                     /gene_synonym="C16orf27; GNPTAG; LP2537; RJD9"
                     /inference="alignment:Splign:2.1.0"
     exon            214..268
                     /gene="GNPTG"
                     /gene_synonym="C16orf27; GNPTAG; LP2537; RJD9"
                     /inference="alignment:Splign:2.1.0"
     exon            269..352
                     /gene="GNPTG"
                     /gene_synonym="C16orf27; GNPTAG; LP2537; RJD9"
                     /inference="alignment:Splign:2.1.0"
     exon            353..446
                     /gene="GNPTG"
                     /gene_synonym="C16orf27; GNPTAG; LP2537; RJD9"
                     /inference="alignment:Splign:2.1.0"
     exon            447..561
                     /gene="GNPTG"
                     /gene_synonym="C16orf27; GNPTAG; LP2537; RJD9"
                     /inference="alignment:Splign:2.1.0"
     exon            562..644
                     /gene="GNPTG"
                     /gene_synonym="C16orf27; GNPTAG; LP2537; RJD9"
                     /inference="alignment:Splign:2.1.0"
     exon            645..776
                     /gene="GNPTG"
                     /gene_synonym="C16orf27; GNPTAG; LP2537; RJD9"
                     /inference="alignment:Splign:2.1.0"
     exon            777..858
                     /gene="GNPTG"
                     /gene_synonym="C16orf27; GNPTAG; LP2537; RJD9"
                     /inference="alignment:Splign:2.1.0"
     exon            859..1975
                     /gene="GNPTG"
                     /gene_synonym="C16orf27; GNPTAG; LP2537; RJD9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1193..1198
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNPTG"
                     /gene_synonym="C16orf27; GNPTAG; LP2537; RJD9"
                     /note="hexamer: AGTAAA"
     polyA_site      1213
                     /gene="GNPTG"
                     /gene_synonym="C16orf27; GNPTAG; LP2537; RJD9"
                     /note="major polyA site"
     regulatory      1951..1956
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNPTG"
                     /gene_synonym="C16orf27; GNPTAG; LP2537; RJD9"
                     /note="hexamer: AATAAA"
     polyA_site      1975
                     /gene="GNPTG"
                     /gene_synonym="C16orf27; GNPTAG; LP2537; RJD9"
ORIGIN      
        1 acttcacgtg accgcgcggc ggccgctgcg gcgcgatggc ggcggggctg gcgcggctcc
       61 tgttgctcct cgggctctcg gccggcgggc ccgcgccggc aggtgcagcg aagatgaagg
      121 tggtggagga gcccaacgcg tttggggtga acaacccgtt cttgcctcag gccagtcgcc
      181 tccaggccaa gagggatcct tcacccgtgt ctggacccgt gcatctcttc cgactctcgg
      241 gcaagtgctt cagcctggtg gagtccacgt acaagtatga gttctgcccg ttccacaacg
      301 tgacccagca cgagcagacc ttccgctgga acgcctacag tgggatcctc ggcatctggc
      361 acgagtggga gatcgccaac aacaccttca cgggcatgtg gatgagggac ggtgacgcct
      421 gccgttcccg gagccggcag agcaaggtgg agctggcgtg tggaaaaagc aaccggctgg
      481 cccatgtgtc cgagccgagc acctgcgtct acgcgctgac gttcgagacc cccctcgtct
      541 gccaccccca cgccttgcta gtgtacccaa ccctgccaga ggccctgcag cggcagtggg
      601 accaggtaga gcaggacctg gccgatgagc tgatcacccc ccagggccat gagaagttgc
      661 tgaggacact ttttgaggat gctggctact taaagacccc agaagaaaat gaacccaccc
      721 agctggaggg aggtcctgac agcttggggt ttgagaccct ggaaaactgc aggaaggctc
      781 ataaagaact ctcaaaggag atcaaaaggc tgaaaggttt gctcacccag cacggcatcc
      841 cctacacgag gcccacagaa acttccaact tggagcactt gggccacgag acgcccagag
      901 ccaagtctcc agagcagctg cggggtgacc caggactgcg tgggagtttg tgaccttgtg
      961 gtgggagagc agaggtggac gcggccgaga gccctacaga gaagctggct ggtaggaccc
     1021 gcagggacca gctgaccagg cttgtgctca gagaagcaga caaaacaaag attcaaggtt
     1081 ttaattaatt cccatactga taaaaataac tccatgaatt ctgtaaacca ttgcataaat
     1141 gctatagtgt aaaaaaattt aaacaagtgt taactttaaa cagttcgcta caagtaaatg
     1201 attataaata ctaccttctg ggttaagaaa attccattca aataacattc tcatgtaaat
     1261 actcaaacat acagattgag gcttccagaa attaatccac ttgaggcgtc cacgcggaac
     1321 aaggtctgct gaccacagtt acacacgtcg tgacaccact gtatcacggc gaatgtcgaa
     1381 cactagagtt acagacgaca ggcaacaaga acatgcagag ccggccgcca gccagctcct
     1441 acgccccgtg cccgccatgg ccacaggggg gagctgctgg gcgcgcctcc acctcagcct
     1501 ccacggggca ccttccagcc actgctgtgc ctcagccacc taggagccat ccctgaggcc
     1561 atggccacca agacaggtga gggaggcccc agggcacaca gccccaggat cttgccccca
     1621 tttccaaccc tggcagcgct gccagccatt ctttggtctt cccactgctc acctgtcctc
     1681 agagccagta ctgatctagg ggagcaggtg ccacctccat ctcccagctg tccccccacc
     1741 cctggggctc cccagctcta ccaccccgga agctgagccc tggagacacc ctgaggggcg
     1801 ggcgccacct ccttcccaga aagagcagag cagctggcag actagagctc agctgctcct
     1861 gaccactgac aaccgggaga tgtctcggca gacaccactt atcccagaaa agaccagagg
     1921 ctccaaatgg gaaccaagtg cataaataca aataaaaaca gagtttacac atcga
//
