LOCUS       NM_172529               1234 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus N-acetylglucosamine-1-phosphotransferase, gamma
            subunit (Gnptg), transcript variant 1, mRNA.
ACCESSION   NM_172529
VERSION     NM_172529.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1234)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 1234)
  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 1234)
  AUTHORS   Westermann,L.M., Fleischhauer,L., Vogel,J., Jenei-Lanzl,Z.,
            Ludwig,N.F., Schau,L., Morellini,F., Baranowsky,A., Yorgan,T.A., Di
            Lorenzo,G., Schweizer,M., de Souza Pinheiro,B., Guarany,N.R.,
            Sperb-Ludwig,F., Visioli,F., Oliveira Silva,T., Soul,J.,
            Hendrickx,G., Wiegert,J.S., Schwartz,I.V.D., Clausen-Schaumann,H.,
            Zaucke,F., Schinke,T., Pohl,S. and Danyukova,T.
  TITLE     Imbalanced cellular metabolism compromises cartilage homeostasis
            and joint function in a mouse model of mucolipidosis type III gamma
  JOURNAL   Dis Model Mech 13 (11) (2020)
   PUBMED   33023972
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1234)
  AUTHORS   Di Lorenzo,G., Velho,R.V., Winter,D., Thelen,M., Ahmadi,S.,
            Schweizer,M., De Pace,R., Cornils,K., Yorgan,T.A., Grub,S.,
            Hermans-Borgmeyer,I., Schinke,T., Muller-Loennies,S., Braulke,T.
            and Pohl,S.
  TITLE     Lysosomal Proteome and Secretome Analysis Identifies Missorted
            Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse
            Cells
  JOURNAL   Mol Cell Proteomics 17 (8), 1612-1626 (2018)
   PUBMED   29773673
REFERENCE   5  (bases 1 to 1234)
  AUTHORS   Idol,R.A., Wozniak,D.F., Fujiwara,H., Yuede,C.M., Ory,D.S.,
            Kornfeld,S. and Vogel,P.
  TITLE     Neurologic abnormalities in mouse models of the lysosomal storage
            disorders mucolipidosis II and mucolipidosis III gamma
  JOURNAL   PLoS One 9 (10), e109768 (2014)
   PUBMED   25314316
  REMARK    Erratum:[PLoS One. 2014;9(11):e114199]
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1234)
  AUTHORS   Encarnacao,M., Kollmann,K., Trusch,M., Braulke,T. and Pohl,S.
  TITLE     Post-translational modifications of the gamma-subunit affect
            intracellular trafficking and complex assembly of
            GlcNAc-1-phosphotransferase
  JOURNAL   J Biol Chem 286 (7), 5311-5318 (2011)
   PUBMED   21173149
REFERENCE   7  (bases 1 to 1234)
  AUTHORS   Qian,Y., Lee,I., Lee,W.S., Qian,M., Kudo,M., Canfield,W.M.,
            Lobel,P. and Kornfeld,S.
  TITLE     Functions of the alpha, beta, and gamma subunits of
            UDP-GlcNAc:lysosomal enzyme
            N-acetylglucosamine-1-phosphotransferase
  JOURNAL   J Biol Chem 285 (5), 3360-3370 (2010)
   PUBMED   19955174
  REMARK    GeneRIF: analysis of functional differences in alpha, beta, and
            gamma subunits of UDP-GlcNAc:lysosomal enzyme
            N-acetylglucosamine-1-phosphotransferase
REFERENCE   8  (bases 1 to 1234)
  AUTHORS   Vogel,P., Payne,B.J., Read,R., Lee,W.S., Gelfman,C.M. and
            Kornfeld,S.
  TITLE     Comparative pathology of murine mucolipidosis types II and IIIC
  JOURNAL   Vet Pathol 46 (2), 313-324 (2009)
   PUBMED   19261645
REFERENCE   9  (bases 1 to 1234)
  AUTHORS   Lee,W.S., Payne,B.J., Gelfman,C.M., Vogel,P. and Kornfeld,S.
  TITLE     Murine UDP-GlcNAc:lysosomal enzyme
            N-acetylglucosamine-1-phosphotransferase lacking the gamma-subunit
            retains substantial activity toward acid hydrolases
  JOURNAL   J Biol Chem 282 (37), 27198-27203 (2007)
   PUBMED   17652091
REFERENCE   10 (bases 1 to 1234)
  AUTHORS   Sun,Q., Li,J., Wang,C., Huang,X., Huang,H., Du,D., Liang,Y. and
            Han,H.
  TITLE     Overexpression of mouse GlcNAc-1-phosphotransferase-gamma subunit
            in cells induced an I-cell-like phenotype of mucolipidosis
  JOURNAL   Gene 347 (1), 55-64 (2005)
   PUBMED   15716021
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC122454.4 and AC130711.3.
            
            On Mar 21, 2007 this sequence version replaced NM_172529.2.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: BC055872.1, AY465529.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849381, SAMN01164139
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-57                AC122454.4         27338-27394         c
            58-115              AC122454.4         27192-27249         c
            116-183             AC122454.4         27053-27120         c
            184-238             AC130711.3         222855-222909       c
            239-322             AC130711.3         222704-222787       c
            323-416             AC130711.3         222533-222626       c
            417-531             AC130711.3         222344-222458       c
            532-614             AC130711.3         222181-222263       c
            615-746             AC130711.3         221979-222110       c
            747-828             AC130711.3         221807-221888       c
            829-1234            AC130711.3         221316-221721       c
FEATURES             Location/Qualifiers
     source          1..1234
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="17"
                     /map="17 12.53 cM"
     gene            1..1234
                     /gene="Gnptg"
                     /gene_synonym="6430527N14Rik; A830081F19; Mdcp1; Tce7"
                     /note="N-acetylglucosamine-1-phosphotransferase, gamma
                     subunit"
                     /db_xref="GeneID:214505"
                     /db_xref="MGI:MGI:2147006"
     exon            1..57
                     /gene="Gnptg"
                     /gene_synonym="6430527N14Rik; A830081F19; Mdcp1; Tce7"
                     /inference="alignment:Splign:2.1.0"
     CDS             6..929
                     /gene="Gnptg"
                     /gene_synonym="6430527N14Rik; A830081F19; Mdcp1; Tce7"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; N-acetylglucosamine-1-phosphotransferase
                     subunit gamma; M6PR domain-containing protein 1;
                     mannose-6-phosphate receptor domain; T-complex expressed
                     7; glcNAc-1-phosphotransferase subunit gamma;
                     UDP-N-acetylglucosamine-1-phosphotransferase subunit
                     gamma"
                     /codon_start=1
                     /product="N-acetylglucosamine-1-phosphotransferase subunit
                     gamma isoform 1 precursor"
                     /protein_id="NP_766117.2"
                     /db_xref="CCDS:CCDS28511.1"
                     /db_xref="GeneID:214505"
                     /db_xref="MGI:MGI:2147006"
                     /translation="MAGRLAGFLMLLGLASQGPAPACAGKMKVVEEPNTFGLNNPFLP
                     QASRLQPKREPSAVSGPLHLFRLAGKCFSLVESTYKYEFCPFHNVTQHEQTFRWNAYS
                     GILGIWHEWEIINNTFKGMWMTDGDSCHSRSRQSKVELTCGKINRLAHVSEPSTCVYA
                     LTFETPLVCHPHSLLVYPTLSEALQQRWDQVEQDLADELITPQGYEKLLRVLFEDAGY
                     LKVPGETHPTQLAGGSKGLGLETLDNCRKAHAELSQEVQRLTSLLQQHGIPHTQPTET
                     THSQHLGQQLPIGAIAAEHLRSDPGLRGNIL"
     exon            58..115
                     /gene="Gnptg"
                     /gene_synonym="6430527N14Rik; A830081F19; Mdcp1; Tce7"
                     /inference="alignment:Splign:2.1.0"
     exon            116..183
                     /gene="Gnptg"
                     /gene_synonym="6430527N14Rik; A830081F19; Mdcp1; Tce7"
                     /inference="alignment:Splign:2.1.0"
     exon            184..238
                     /gene="Gnptg"
                     /gene_synonym="6430527N14Rik; A830081F19; Mdcp1; Tce7"
                     /inference="alignment:Splign:2.1.0"
     exon            239..322
                     /gene="Gnptg"
                     /gene_synonym="6430527N14Rik; A830081F19; Mdcp1; Tce7"
                     /inference="alignment:Splign:2.1.0"
     exon            323..416
                     /gene="Gnptg"
                     /gene_synonym="6430527N14Rik; A830081F19; Mdcp1; Tce7"
                     /inference="alignment:Splign:2.1.0"
     exon            417..531
                     /gene="Gnptg"
                     /gene_synonym="6430527N14Rik; A830081F19; Mdcp1; Tce7"
                     /inference="alignment:Splign:2.1.0"
     exon            532..614
                     /gene="Gnptg"
                     /gene_synonym="6430527N14Rik; A830081F19; Mdcp1; Tce7"
                     /inference="alignment:Splign:2.1.0"
     exon            615..746
                     /gene="Gnptg"
                     /gene_synonym="6430527N14Rik; A830081F19; Mdcp1; Tce7"
                     /inference="alignment:Splign:2.1.0"
     exon            747..828
                     /gene="Gnptg"
                     /gene_synonym="6430527N14Rik; A830081F19; Mdcp1; Tce7"
                     /inference="alignment:Splign:2.1.0"
     exon            829..1234
                     /gene="Gnptg"
                     /gene_synonym="6430527N14Rik; A830081F19; Mdcp1; Tce7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1106..1111
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Gnptg"
                     /gene_synonym="6430527N14Rik; A830081F19; Mdcp1; Tce7"
                     /note="hexamer: AATAAA"
     polyA_site      1130
                     /gene="Gnptg"
                     /gene_synonym="6430527N14Rik; A830081F19; Mdcp1; Tce7"
                     /note="major polyA site"
     regulatory      1202..1207
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Gnptg"
                     /gene_synonym="6430527N14Rik; A830081F19; Mdcp1; Tce7"
                     /note="hexamer: AACAAA"
     polyA_site      1222
                     /gene="Gnptg"
                     /gene_synonym="6430527N14Rik; A830081F19; Mdcp1; Tce7"
ORIGIN      
        1 gagcaatggc ggggcggctg gctggcttcc tgatgttgct ggggctcgcg tcgcaggggc
       61 ccgcgccggc atgtgccggg aagatgaagg tggtggagga gcctaacaca ttcgggctga
      121 ataacccgtt cttgccccag gcaagccgcc ttcagcccaa gagagagcct tcagctgtat
      181 ccgggcccct gcatctcttc agacttgctg gcaagtgctt tagcctagtg gagtccacgt
      241 acaagtatga attctgccct ttccacaacg tcacccagca cgagcagacc ttccgctgga
      301 acgcctacag cgggatcctt ggcatctggc atgagtggga aatcatcaac aataccttca
      361 agggcatgtg gatgactgat ggggactcct gccactcccg gagccggcag agcaaggtgg
      421 agctcacctg tggaaagatc aaccgactgg cccacgtgtc tgagccaagc acctgtgtct
      481 atgcattgac attcgagacc cctcttgttt gccatcccca ctctttgtta gtgtatccaa
      541 ctctgtcaga ggccctgcag cagcgctggg accaggtgga acaggacctg gcagacgaac
      601 tgatcacacc acagggctat gagaagttgc taagggtact ttttgaggat gctggctact
      661 taaaggtccc aggagaaacc catcccaccc agctggcagg aggttccaag ggcctggggc
      721 ttgagactct ggacaactgt agaaaggcac atgcagagct gtcacaggag gtacaaagac
      781 tgacgagtct gctgcaacag catggaatcc cccacactca gcccacagaa accactcact
      841 ctcagcacct gggtcagcag ctccccatag gtgcaatcgc agcagagcat ctgcggagtg
      901 acccaggact acgtgggaac atcctgtgag caaggtggcc acgaagaata gaaatatcct
      961 gagctttgag tgtcctttca cagagtgaac aaaactggtg tggtgtagac acggcttctt
     1021 ttggcatatt ctagatcaga cagtgtcact gacaaacaag agggacctgc tggccagcct
     1081 ttgttgtgcc caaagatcca gacaaaataa agattcaaag ttttaattaa ttccatactg
     1141 ataaaaaata actccatgac ttctgtaaac cattgcataa atgctattgt aaaaaaaatt
     1201 aaacaaatgt taacaacttt aacaattcac taaa
//
