LOCUS       NM_002355               2450 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens mannose-6-phosphate receptor, cation dependent (M6PR),
            transcript variant 1, mRNA.
ACCESSION   NM_002355
VERSION     NM_002355.4
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 2450)
  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 2450)
  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 2450)
  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 2450)
  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 2450)
  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 2450)
  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 2450)
  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 2450)
  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 2450)
  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 2450)
  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 DC341018.1, M16985.1 and
            AA648974.1.
            
            On Nov 23, 2018 this sequence version replaced NM_002355.3.
            
            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 (1) encodes the longest isoform
            (1). Variants 1, 3, and 14-16 all encode the same 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 :: SRR1803612.173024.1,
                                           SRR1803617.184384.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2149178
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000000412.8/ ENSP00000000412.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                DC341018.1         117-130
            15-2442             M16985.1           1-2428
            2443-2450           AA648974.1         18-25               c
FEATURES             Location/Qualifiers
     source          1..2450
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..2450
                     /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..993
                     /gene="M6PR"
                     /gene_synonym="CD-M6PR; CD-MPR; MPR 46; MPR-46; MPR46;
                     SMPR"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; 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 1 precursor"
                     /protein_id="NP_002346.1"
                     /db_xref="CCDS:CCDS8598.1"
                     /db_xref="GeneID:4074"
                     /db_xref="HGNC:HGNC:6752"
                     /db_xref="MIM:154540"
                     /translation="MFPFYSCWRTGLLLLLLAVAVRESWQTEEKTCDLVGEKGKESEK
                     ELALVKRLKPLFNKSFESTVGQGSDTYIYIFRVCREAGNHTSGAGLVQINKSNGKETV
                     VGRLNETHIFNGSNWIMLIYKGGDEYDNHCGKEQRRAVVMISCNRHTLADNFNPVSEE
                     RGKVQDCFYLFEMDSSLACSPEISHLSVGSILLVTFASLVAVYVVGGFLYQRLVVGAK
                     GMEQFPHLAFWQDLGNLVADGCDFVCRSKPRNVPAAYRGVGDDQLGEESEERDDHLLP
                     M"
     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..743
                     /gene="M6PR"
                     /gene_synonym="CD-M6PR; CD-MPR; MPR 46; MPR-46; MPR46;
                     SMPR"
                     /inference="alignment:Splign:2.1.0"
     exon            744..870
                     /gene="M6PR"
                     /gene_synonym="CD-M6PR; CD-MPR; MPR 46; MPR-46; MPR46;
                     SMPR"
                     /inference="alignment:Splign:2.1.0"
     exon            871..2450
                     /gene="M6PR"
                     /gene_synonym="CD-M6PR; CD-MPR; MPR 46; MPR-46; MPR46;
                     SMPR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2429..2434
                     /regulatory_class="polyA_signal_sequence"
                     /gene="M6PR"
                     /gene_synonym="CD-M6PR; CD-MPR; MPR 46; MPR-46; MPR46;
                     SMPR"
                     /note="hexamer: ATTAAA"
     polyA_site      2437
                     /gene="M6PR"
                     /gene_synonym="CD-M6PR; CD-MPR; MPR 46; MPR-46; MPR46;
                     SMPR"
                     /note="major polyA site"
     polyA_site      2450
                     /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 cggacaattt taaccctgtg tctgaggagc gtggcaaagt ccaagattgt
      661 ttctacctct ttgagatgga tagcagcctg gcctgttcac cagagatctc ccacctcagt
      721 gtgggttcca tcttacttgt cacgtttgca tcactggttg ctgtttatgt tgttgggggg
      781 ttcctatacc agcgactggt agtgggagcc aaaggaatgg agcagtttcc ccacttagcc
      841 ttctggcagg atcttggcaa cctggtagca gatggctgtg actttgtctg ccgttctaaa
      901 cctcgaaatg tgcctgcagc atatcgtggt gtgggggatg accagctggg ggaggagtca
      961 gaagaaaggg atgaccattt attaccaatg tagattgcac tttatatgtc cagcctcttc
     1021 ctcagtcccc caaaccaaag ctacacagcc agatttctca agcagtctca actccagtcc
     1081 ctcatctcac ccttactatt gctcttgctt tccagtttgc ttttgatttg catcttctca
     1141 ctagtaaaac tgccttccct ttgttcctta ttttctgttt tttctctaga gaggtacagt
     1201 tgtaagtcag agttaatata atagggcctg tgaaaacaga ggcttttgca ttgtctcttg
     1261 acatcagaag ttacaatagg catatgggca aaatggtgta gcaggctcac tggccgtttg
     1321 ttttttaaac acattttcac aagtttttga gacactggat ttctttaatt aaaaaaaaaa
     1381 tgccaagaaa cattatttat acagggttga ttgctttcat gttgttattc tgtaccctat
     1441 agtagcctcc atgagaatct ggtatttctt gctgcttgga actactttgc agtgattact
     1501 tggttgcagt ccaagtactc tcgtttagtc tgagcctgga gatgttctag acttgcttct
     1561 cccacctctg agattaggac aggaaaaatg tgaaatttcc caattacagg attatacggt
     1621 accatcacat catttgtgga aattggggtg actgtatagc tgggattggg ctaaggactg
     1681 tggtcttatc tgtccacata cagccaaaat gcctatccag aaatccagtt cgttggaaag
     1741 gaaaattggt actcctgtgc cacaggggtt ccagaaaagg gaagtcactt taccttgcgg
     1801 tggtgggatc ctgatgtctt tcatccattt gtagtaaaag ctggtaaagc ttttcttact
     1861 cctggttccc taccagtatt tctaaacatg tcgcactttc tccacaggca tgtggttttg
     1921 accttttttt caatcttcta gaaagggaac ggaagcagaa gtgggacatc gagggctctg
     1981 ctgtcctctg cgctgggtgt ggaatgctgc tgcacctgtc ccttctgctg gctcagggaa
     2041 gtgtcttctt gcccacattt ctgtggggaa aggtttttaa tcctctgatg cttccatctt
     2101 cctgtttagg ccatgtgccc agaaacctgg actgatcttt ctttaatagt gaacccctgg
     2161 gccactgaag agtaacatgg ctccactgga cacaaaagag ggatggaatc aacaggcagg
     2221 gggcctttta taagccttag gaaaagaaaa tgaaactatt tcatctttgg acttttcaat
     2281 actattggag tgattttttt ctttctaaac agggaaaata atgttacaaa agcatctttt
     2341 ttgttatttg tttgcatccc tcccccacac cctggtgttt taaaatgaag aaaaaaaacc
     2401 atcacctttt gtacaaaaac tcttaatgat taaaaaacaa acaaaacata
//
