LOCUS       NM_016579               1253 bp    mRNA    linear   PRI 29-MAY-2023
DEFINITION  Homo sapiens CD320 molecule (CD320), transcript variant 1, mRNA.
ACCESSION   NM_016579
VERSION     NM_016579.4
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 1253)
  AUTHORS   McCaddon A, Carr DF, Peter H, Moat SJ and Quadros EV.
  TITLE     Transcobalamin receptor gene polymorphisms and mutation in an
            elderly population
  JOURNAL   Clin Nutr ESPEN 55, 425-427 (2023)
   PUBMED   37202078
  REMARK    GeneRIF: Transcobalamin receptor gene polymorphisms and mutation in
            an elderly population.
REFERENCE   2  (bases 1 to 1253)
  AUTHORS   Pangilinan F, Watkins D, Bernard D, Chen Y, Dong N, Wu Q,
            Ozel-Abaan H, Kaur M, Caggana M, Morrissey M, Browne ML, Mills JL,
            Van Ryzin C, Shchelochkov O, Sloan J, Venditti CP, Sarafoglou K,
            Rosenblatt DS, Kay DM and Brody LC.
  TITLE     Probing the functional consequence and clinical relevance of CD320
            p.E88del, a variant in the transcobalamin receptor gene
  JOURNAL   Am J Med Genet A 188 (4), 1124-1141 (2022)
   PUBMED   35107211
  REMARK    GeneRIF: Probing the functional consequence and clinical relevance
            of CD320 p.E88del, a variant in the transcobalamin receptor gene.
REFERENCE   3  (bases 1 to 1253)
  AUTHORS   Boachie J, Adaikalakoteswari A, Goljan I, Samavat J, Cagampang FR
            and Saravanan P.
  TITLE     Intracellular and Tissue Levels of Vitamin B12 in Hepatocytes Are
            Modulated by CD320 Receptor and TCN2 Transporter
  JOURNAL   Int J Mol Sci 22 (6), 3089 (2021)
   PUBMED   33803025
  REMARK    GeneRIF: Intracellular and Tissue Levels of Vitamin B12 in
            Hepatocytes Are Modulated by CD320 Receptor and TCN2 Transporter.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1253)
  AUTHORS   Gick GG, Arora K, Sequeira JM, Nakayama Y, Lai SC and Quadros EV.
  TITLE     Cellular uptake of vitamin B12: Role and fate of TCblR/CD320, the
            transcobalamin receptor
  JOURNAL   Exp Cell Res 396 (1), 112256 (2020)
   PUBMED   32898552
  REMARK    GeneRIF: Cellular uptake of vitamin B12: Role and fate of
            TCblR/CD320, the transcobalamin receptor.
REFERENCE   5  (bases 1 to 1253)
  AUTHORS   Ahn TK, Kim JO, An HJ, Park HS, Choi UY, Sohn S, Kim KT, Kim NK and
            Han IB.
  TITLE     3'-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with
            Osteoporosis and Osteoporotic Vertebral Compression Fractures
            (OVCFs) in Postmenopausal Women
  JOURNAL   Genes (Basel) 11 (6), 612 (2020)
   PUBMED   32498429
  REMARK    GeneRIF: 3'-UTR Polymorphisms of Vitamin B-Related Genes Are
            Associated with Osteoporosis and Osteoporotic Vertebral Compression
            Fractures (OVCFs) in Postmenopausal Women.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1253)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   7  (bases 1 to 1253)
  AUTHORS   Zhang X, Li L, Jung J, Xiang S, Hollmann C and Choi YS.
  TITLE     The distinct roles of T cell-derived cytokines and a novel
            follicular dendritic cell-signaling molecule 8D6 in germinal
            center-B cell differentiation
  JOURNAL   J Immunol 167 (1), 49-56 (2001)
   PUBMED   11418631
REFERENCE   8  (bases 1 to 1253)
  AUTHORS   Acierno JS Jr, Kennedy JC, Falardeau JL, Leyne M, Bromley MC,
            Colman MW, Sun M, Bove C, Ashworth LK, Chadwick LH, Schiripo T, Ma
            S, Goldin E, Schiffmann R and Slaugenhaupt SA.
  TITLE     A physical and transcript map of the MCOLN1 gene region on human
            chromosome 19p13.3-p13.2
  JOURNAL   Genomics 73 (2), 203-210 (2001)
   PUBMED   11318610
REFERENCE   9  (bases 1 to 1253)
  AUTHORS   Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   10 (bases 1 to 1253)
  AUTHORS   Li L, Zhang X, Kovacic S, Long AJ, Bourque K, Wood CR and Choi YS.
  TITLE     Identification of a human follicular dendritic cell molecule that
            stimulates germinal center B cell growth
  JOURNAL   J Exp Med 191 (6), 1077-1084 (2000)
   PUBMED   10727470
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010323.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_016579.3.
            
            Summary: This gene encodes the transcobalamin receptor that is
            expressed at the cell surface. It mediates the cellular uptake of
            transcobalamin bound cobalamin (vitamin B12), and is involved in
            B-cell proliferation and immunoglobulin secretion. Mutations in
            this gene are associated with methylmalonic aciduria. Alternatively
            spliced transcript variants encoding different isoforms have been
            found for this gene.[provided by RefSeq, Jan 2011].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: SRR1163658.167666.1, AF161254.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000301458.10/ ENSP00000301458.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-210               AC010323.8         58301-58510         c
            211-336             AC010323.8         55183-55308         c
            337-570             AC010323.8         54007-54240         c
            571-774             AC010323.8         52929-53132         c
            775-1253            AC010323.8         52279-52757         c
FEATURES             Location/Qualifiers
     source          1..1253
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..1253
                     /gene="CD320"
                     /gene_synonym="8D6; 8D6A; sCD320; TCBLR; TCII-R; TCN2R"
                     /note="CD320 molecule"
                     /db_xref="GeneID:51293"
                     /db_xref="HGNC:HGNC:16692"
                     /db_xref="MIM:606475"
     exon            1..210
                     /gene="CD320"
                     /gene_synonym="8D6; 8D6A; sCD320; TCBLR; TCII-R; TCN2R"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..917
                     /gene="CD320"
                     /gene_synonym="8D6; 8D6A; sCD320; TCBLR; TCII-R; TCN2R"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; 8D6 antigen; CD320 antigen; FDC-SM-8D6;
                     transcobalamin receptor; FDC-signaling molecule 8D6;
                     transcobalamin 2 receptor; soluble CD320"
                     /codon_start=1
                     /product="CD320 antigen isoform 1 precursor"
                     /protein_id="NP_057663.1"
                     /db_xref="CCDS:CCDS12198.1"
                     /db_xref="GeneID:51293"
                     /db_xref="HGNC:HGNC:16692"
                     /db_xref="MIM:606475"
                     /translation="MSGGWMAQVGAWRTGALGLALLLLLGLGLGLEAAASPLSTPTSA
                     QAAGPSSGSCPPTKFQCRTSGLCVPLTWRCDRDLDCSDGSDEEECRIEPCTQKGQCPP
                     PPGLPCPCTGVSDCSGGTDKKLRNCSRLACLAGELRCTLSDDCIPLTWRCDGHPDCPD
                     SSDELGCGTNEILPEGDATTMGPPVTLESVTSLRNATTMGPPVTLESVPSVGNATSSS
                     AGDQSGSPTAYGVIAAAAVLSASLVTATLLLLSWLRAQERLRPLGLLVAMKESLLLSE
                     QKTSLP"
     exon            211..336
                     /gene="CD320"
                     /gene_synonym="8D6; 8D6A; sCD320; TCBLR; TCII-R; TCN2R"
                     /inference="alignment:Splign:2.1.0"
     exon            337..570
                     /gene="CD320"
                     /gene_synonym="8D6; 8D6A; sCD320; TCBLR; TCII-R; TCN2R"
                     /inference="alignment:Splign:2.1.0"
     exon            571..774
                     /gene="CD320"
                     /gene_synonym="8D6; 8D6A; sCD320; TCBLR; TCII-R; TCN2R"
                     /inference="alignment:Splign:2.1.0"
     exon            775..1253
                     /gene="CD320"
                     /gene_synonym="8D6; 8D6A; sCD320; TCBLR; TCII-R; TCN2R"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1232..1237
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD320"
                     /gene_synonym="8D6; 8D6A; sCD320; TCBLR; TCII-R; TCN2R"
                     /note="hexamer: ATTAAA"
     polyA_site      1253
                     /gene="CD320"
                     /gene_synonym="8D6; 8D6A; sCD320; TCBLR; TCII-R; TCN2R"
                     /note="major polyA site"
ORIGIN      
        1 gcgtgcgcgt gcgcagggat aagagagcgg tctggacagc gcgtggccgg cgccgctgtg
       61 gggacagcat gagcggcggt tggatggcgc aggttggagc gtggcgaaca ggggctctgg
      121 gcctggcgct gctgctgctg ctcggcctcg gactaggcct ggaggccgcc gcgagcccgc
      181 tttccacccc gacctctgcc caggccgcag gccccagctc aggctcgtgc ccacccacca
      241 agttccagtg ccgcaccagt ggcttatgcg tgcccctcac ctggcgctgc gacagggact
      301 tggactgcag cgatggcagc gatgaggagg agtgcaggat tgagccatgt acccagaaag
      361 ggcaatgccc accgccccct ggcctcccct gcccctgcac cggcgtcagt gactgctctg
      421 ggggaactga caagaaactg cgcaactgca gccgcctggc ctgcctagca ggcgagctcc
      481 gttgcacgct gagcgatgac tgcattccac tcacgtggcg ctgcgacggc cacccagact
      541 gtcccgactc cagcgacgag ctcggctgtg gaaccaatga gatcctcccg gaaggggatg
      601 ccacaaccat ggggccccct gtgaccctgg agagtgtcac ctctctcagg aatgccacaa
      661 ccatggggcc ccctgtgacc ctggagagtg tcccctctgt cgggaatgcc acatcctcct
      721 ctgccggaga ccagtctgga agcccaactg cctatggggt tattgcagct gctgcggtgc
      781 tcagtgcaag cctggtcacc gccaccctcc tccttttgtc ctggctccga gcccaggagc
      841 gcctccgccc actggggtta ctggtggcca tgaaggagtc cctgctgctg tcagaacaga
      901 agacctcgct gccctgagga caagcacttg ccaccaccgt cactcagccc tgggcgtagc
      961 cggacaggag gagagcagtg atgcggatgg gtacccgggc acaccagccc tcagagacct
     1021 gagctcttct ggccacgtgg aacctcgaac ccgagctcct gcagaagtgg ccctggagat
     1081 tgagggtccc tggacactcc ctatggagat ccggggagct aggatgggga acctgccaca
     1141 gccagaactg aggggctggc cccaggcagc tcccaggggg tagaacggcc ctgtgcttaa
     1201 gacactcctg ctgccccgtc tgagggtggc aattaaagtt gcttcacatc ctc
//
