LOCUS       NM_001207024            2192 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens mannose-6-phosphate receptor, cation dependent (M6PR),
            transcript variant 2, mRNA.
ACCESSION   NM_001207024
VERSION     NM_001207024.2
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 2192)
  AUTHORS   Calcagni',A., Staiano,L., Zampelli,N., Minopoli,N., Herz,N.J., Di
            Tullio,G., Huynh,T., Monfregola,J., Esposito,A., Cirillo,C.,
            Bajic,A., Zahabiyon,M., Curnock,R., Polishchuk,E., Parkitny,L.,
            Medina,D.L., Pastore,N., Cullen,P.J., Parenti,G., De Matteis,M.A.,
            Grumati,P. and Ballabio,A.
  TITLE     Loss of the batten disease protein CLN3 leads to mis-trafficking of
            M6PR and defective autophagic-lysosomal reformation
  JOURNAL   Nat Commun 14 (1), 3911 (2023)
   PUBMED   37400440
  REMARK    GeneRIF: Loss of the batten disease protein CLN3 leads to
            mis-trafficking of M6PR and defective autophagic-lysosomal
            reformation.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2192)
  AUTHORS   Mihalic,F., Simonetti,L., Giudice,G., Sander,M.R., Lindqvist,R.,
            Peters,M.B.A., Benz,C., Kassa,E., Badgujar,D., Inturi,R., Ali,M.,
            Krystkowiak,I., Sayadi,A., Andersson,E., Aronsson,H., Soderberg,O.,
            Dobritzsch,D., Petsalaki,E., Overby,A.K., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Large-scale phage-based screening reveals extensive pan-viral
            mimicry of host short linear motifs
  JOURNAL   Nat Commun 14 (1), 2409 (2023)
   PUBMED   37100772
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2192)
  AUTHORS   Dai,P., Ruan,P., Mao,Y., Tang,Z., Qiu,X., Bajinka,O. and Tan,Y.
  TITLE     Gimap5 promoted RSV degradation through interaction with M6PR
  JOURNAL   J Med Virol 95 (1), e28390 (2023)
   PUBMED   36484389
  REMARK    GeneRIF: Gimap5 promoted RSV degradation through interaction with
            M6PR.
REFERENCE   4  (bases 1 to 2192)
  AUTHORS   Usategui-Martin,R., Perez-Castrillon,J.L., Mansego,M.L.,
            Lara-Hernandez,F., Manzano,I., Briongos,L., Abadia-Otero,J.,
            Martin-Vallejo,J., Garcia-Garcia,A.B., Martin-Escudero,J.C. and
            Chaves,F.J.
  TITLE     Association between genetic variants in oxidative stress-related
            genes and osteoporotic bone fracture. The Hortega follow-up study
  JOURNAL   Gene 809, 146036 (2022)
   PUBMED   34688818
  REMARK    GeneRIF: Association between genetic variants in oxidative
            stress-related genes and osteoporotic bone fracture. The Hortega
            follow-up study.
REFERENCE   5  (bases 1 to 2192)
  AUTHORS   Hille-Rehfeld,A.
  TITLE     Mannose 6-phosphate receptors in sorting and transport of lysosomal
            enzymes
  JOURNAL   Biochim Biophys Acta 1241 (2), 177-194 (1995)
   PUBMED   7640295
  REMARK    Review article
REFERENCE   6  (bases 1 to 2192)
  AUTHORS   Klumperman,J., Hille,A., Veenendaal,T., Oorschot,V., Stoorvogel,W.,
            von Figura,K. and Geuze,H.J.
  TITLE     Differences in the endosomal distributions of the two mannose
            6-phosphate receptors
  JOURNAL   J Cell Biol 121 (5), 997-1010 (1993)
   PUBMED   8099077
REFERENCE   7  (bases 1 to 2192)
  AUTHORS   Klier,H.J., von Figura,K. and Pohlmann,R.
  TITLE     Isolation and analysis of the human 46-kDa mannose 6-phosphate
            receptor gene
  JOURNAL   Eur J Biochem 197 (1), 23-28 (1991)
   PUBMED   1849818
REFERENCE   8  (bases 1 to 2192)
  AUTHORS   Watanabe,H., Grubb,J.H. and Sly,W.S.
  TITLE     The overexpressed human 46-kDa mannose 6-phosphate receptor
            mediates endocytosis and sorting of beta-glucuronidase
  JOURNAL   Proc Natl Acad Sci U S A 87 (20), 8036-8040 (1990)
   PUBMED   2172972
REFERENCE   9  (bases 1 to 2192)
  AUTHORS   Faust,P.L., Chirgwin,J.M. and Kornfeld,S.
  TITLE     Renin, a secretory glycoprotein, acquires phosphomannosyl residues
  JOURNAL   J Cell Biol 105 (5), 1947-1955 (1987)
   PUBMED   2960682
REFERENCE   10 (bases 1 to 2192)
  AUTHORS   Pohlmann,R., Nagel,G., Schmidt,B., Stein,M., Lorkowski,G.,
            Krentler,C., Cully,J., Meyer,H.E., Grzeschik,K.H., Mersmann,G. et
            al.
  TITLE     Cloning of a cDNA encoding the human cation-dependent mannose
            6-phosphate-specific receptor
  JOURNAL   Proc Natl Acad Sci U S A 84 (16), 5575-5579 (1987)
   PUBMED   2441386
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU166950.1, BM546062.1,
            BG750588.1 and AA648974.1.
            
            On Aug 14, 2020 this sequence version replaced NM_001207024.1.
            
            Summary: This gene encodes a member of the P-type lectin family.
            P-type lectins play a critical role in lysosome function through
            the specific transport of mannose-6-phosphate-containing acid
            hydrolases from the Golgi complex to lysosomes. The encoded protein
            functions as a homodimer and requires divalent cations for ligand
            binding. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed for this gene. A pseudogene of
            this gene is located on the long arm of chromosome X. [provided by
            RefSeq, May 2011].
            
            Transcript Variant: This variant (2) lacks two consecutive exons in
            the 3' coding region, but maintains the reading frame, compared to
            variant 1. The encoded isoform (2) is shorter than isoform 1.
            
            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 :: SRR14038193.3996810.1,
                                           SRR14038191.4083325.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-672               BU166950.1         12-683
            673-1343            BM546062.1         202-872
            1344-1605           BG750588.1         92-353
            1606-2192           AA648974.1         18-604              c
FEATURES             Location/Qualifiers
     source          1..2192
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..2192
                     /gene="M6PR"
                     /gene_synonym="CD-M6PR; CD-MPR; MPR 46; MPR-46; MPR46;
                     SMPR"
                     /note="mannose-6-phosphate receptor, cation dependent"
                     /db_xref="GeneID:4074"
                     /db_xref="HGNC:HGNC:6752"
                     /db_xref="MIM:154540"
     exon            1..158
                     /gene="M6PR"
                     /gene_synonym="CD-M6PR; CD-MPR; MPR 46; MPR-46; MPR46;
                     SMPR"
                     /inference="alignment:Splign:2.1.0"
     exon            159..335
                     /gene="M6PR"
                     /gene_synonym="CD-M6PR; CD-MPR; MPR 46; MPR-46; MPR46;
                     SMPR"
                     /inference="alignment:Splign:2.1.0"
     CDS             160..735
                     /gene="M6PR"
                     /gene_synonym="CD-M6PR; CD-MPR; MPR 46; MPR-46; MPR46;
                     SMPR"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; 46-kDa mannose 6-phosphate receptor; small
                     mannose 6-phosphate receptor; Mr 46,000 Man6PR;
                     cation-dependent mannose-6-phosphate receptor; CD Man-6-P
                     receptor"
                     /codon_start=1
                     /product="cation-dependent mannose-6-phosphate receptor
                     isoform 2 precursor"
                     /protein_id="NP_001193953.1"
                     /db_xref="CCDS:CCDS73440.1"
                     /db_xref="GeneID:4074"
                     /db_xref="HGNC:HGNC:6752"
                     /db_xref="MIM:154540"
                     /translation="MFPFYSCWRTGLLLLLLAVAVRESWQTEEKTCDLVGEKGKESEK
                     ELALVKRLKPLFNKSFESTVGQGSDTYIYIFRVCREAGNHTSGAGLVQINKSNGKETV
                     VGRLNETHIFNGSNWIMLIYKGGDEYDNHCGKEQRRAVVMISCNRHTLADGCDFVCRS
                     KPRNVPAAYRGVGDDQLGEESEERDDHLLPM"
     exon            336..502
                     /gene="M6PR"
                     /gene_synonym="CD-M6PR; CD-MPR; MPR 46; MPR-46; MPR46;
                     SMPR"
                     /inference="alignment:Splign:2.1.0"
     exon            503..612
                     /gene="M6PR"
                     /gene_synonym="CD-M6PR; CD-MPR; MPR 46; MPR-46; MPR46;
                     SMPR"
                     /inference="alignment:Splign:2.1.0"
     exon            613..2192
                     /gene="M6PR"
                     /gene_synonym="CD-M6PR; CD-MPR; MPR 46; MPR-46; MPR46;
                     SMPR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2171..2176
                     /regulatory_class="polyA_signal_sequence"
                     /gene="M6PR"
                     /gene_synonym="CD-M6PR; CD-MPR; MPR 46; MPR-46; MPR46;
                     SMPR"
                     /note="hexamer: ATTAAA"
     polyA_site      2179
                     /gene="M6PR"
                     /gene_synonym="CD-M6PR; CD-MPR; MPR 46; MPR-46; MPR46;
                     SMPR"
                     /note="major polyA site"
     polyA_site      2192
                     /gene="M6PR"
                     /gene_synonym="CD-M6PR; CD-MPR; MPR 46; MPR-46; MPR46;
                     SMPR"
                     /note="major polyA site"
ORIGIN      
        1 agagtggggc acagcgaggc gctaggggga acgctggcct ctgaaactag ctctgggacc
       61 ggggtctgcg gccggcccct agctggcccc gtctcccatc cccagaaggg tattcactgg
      121 ggattctgag ctttggctac tccagtttcc cacgacacga tgttcccttt ctacagctgc
      181 tggaggactg gactgctact actactcctg gctgtggcag tgagagaatc ctggcagaca
      241 gaagaaaaaa cttgcgactt ggtaggagaa aagggtaaag agtcagagaa agagttggct
      301 ctagtgaaga ggctgaaacc actgtttaat aaaagctttg agagcactgt gggccagggt
      361 tcagacacat acatctacat cttcagggtg tgccgggaag ctggcaacca cacttctggg
      421 gcaggcctgg tgcaaatcaa caaaagtaat gggaaggaga cagtggtagg gagactcaac
      481 gagactcaca tcttcaacgg aagtaattgg atcatgctga tctataaagg gggtgatgaa
      541 tatgacaacc actgtggcaa ggagcagcgt cgtgcagtgg tgatgatctc ctgcaatcga
      601 cacaccctag cggatggctg tgactttgtc tgccgttcta aacctcgaaa tgtgcctgca
      661 gcatatcgtg gtgtggggga tgaccagctg ggggaggagt cagaagaaag ggatgaccat
      721 ttattaccaa tgtagattgc actttatatg tccagcctct tcctcagtcc cccaaaccaa
      781 agctacacag ccagatttct caagcagtct caactccagt ccctcatctc acccttacta
      841 ttgctcttgc tttccagttt gcttttgatt tgcatcttct cactagtaaa actgccttcc
      901 ctttgttcct tattttctgt tttttctcta gagaggtaca gttgtaagtc agagttaata
      961 taatagggcc tgtgaaaaca gaggcttttg cattgtctct tgacatcaga agttacaata
     1021 ggcatatggg caaaatggtg tagcaggctc actggccgtt tgttttttaa acacattttc
     1081 acaagttttt gagacactgg atttctttaa ttaaaaaaaa aatgccaaga aacattattt
     1141 atacagggtt gattgctttc atgttgttat tctgtaccct atagtagcct ccatgagaat
     1201 ctggtatttc ttgctgcttg gaactacttt gcagtgatta cttggttgca gtccaagtac
     1261 tctcgtttag tctgagcctg gagatgttct agacttgctt ctcccacctc tgagattagg
     1321 acaggaaaaa tgtgaaattt cccaattaca ggattatacg gtaccatcac atcatttgtg
     1381 gaaattgggg tgactgtata gctgggattg ggctaaggac tgtggtctta tctgtccaca
     1441 tacagccaaa atgcctatcc agaaatccag ttcgttggaa aggaaaattg gtactcctgt
     1501 gccacagggg ttccagaaaa gggaagtcac tttaccttgc ggtggtggga tcctgatgtc
     1561 tttcatccat ttgtagtaaa agctggtaaa gcttttctta ctcctggttc cctaccagta
     1621 tttctaaaca tgtcgcactt tctccacagg catgtggttt tgaccttttt ttcaatcttc
     1681 tagaaaggga acggaagcag aagtgggaca tcgagggctc tgctgtcctc tgcgctgggt
     1741 gtggaatgct gctgcacctg tcccttctgc tggctcaggg aagtgtcttc ttgcccacat
     1801 ttctgtgggg aaaggttttt aatcctctga tgcttccatc ttcctgttta ggccatgtgc
     1861 ccagaaacct ggactgatct ttctttaata gtgaacccct gggccactga agagtaacat
     1921 ggctccactg gacacaaaag agggatggaa tcaacaggca gggggccttt tataagcctt
     1981 aggaaaagaa aatgaaacta tttcatcttt ggacttttca atactattgg agtgattttt
     2041 ttctttctaa acagggaaaa taatgttaca aaagcatctt ttttgttatt tgtttgcatc
     2101 cctcccccac accctggtgt tttaaaatga agaaaaaaaa ccatcacctt ttgtacaaaa
     2161 actcttaatg attaaaaaac aaacaaaaca ta
//
