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    CD320 CD320 molecule [ Homo sapiens (human) ]

    Gene ID: 51293, updated on 5-Aug-2018

    Summary

    Official Symbol
    CD320provided by HGNC
    Official Full Name
    CD320 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:16692
    See related
    Ensembl:ENSG00000167775 MIM:606475; Vega:OTTHUMG00000182457
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    8D6; 8D6A; TCBLR
    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]
    Expression
    Ubiquitous expression in spleen (RPKM 26.7), colon (RPKM 20.1) and 25 other tissues See more
    Orthologs

    Genomic context

    See CD320 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (8302127..8308356, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (8367011..8373439, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ALG11, alpha-1,2-mannosyltransferase pseudogene Neighboring gene ceramide synthase 4 Neighboring gene uncharacterized LOC107985282 Neighboring gene NADH:ubiquinone oxidoreductase subunit A7 Neighboring gene ribosomal protein S28

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CD320 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef The yeast two-hybrid screen identifies the HIV-1 Nef interacting human protein CD320 (TCBLR), which co-localizes with Nef mainly at the perinuclear region PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystem (from REACTOME)
      Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystemVitamin B12 (cobalamin, Cbl) is a water-soluble vitamin with a key role in blood formation and normal functioning of the brain and nervous system. Cbl consists of a planar corrin ring coordinating wi...
    • Defective CD320 causes methylmalonic aciduria, organism-specific biosystem (from REACTOME)
      Defective CD320 causes methylmalonic aciduria, organism-specific biosystemDefects in CD320 cause methylmalonic aciduria type TCblR (MMATC aka methylmalonic aciduria; MIM:613646) resulting in elevated methylmalonic acid (MMA) and homocysteine (HCYS) in newborns (Quadros et ...
    • Defects in cobalamin (B12) metabolism, organism-specific biosystem (from REACTOME)
      Defects in cobalamin (B12) metabolism, organism-specific biosystemCobalamin (Cbl, vitamin B12) is a nutrient essential for normal functioning of the brain and nervous system and for the formation of blood. Cbl-dependent methionine synthase (MTR) is required for con...
    • Defects in vitamin and cofactor metabolism, organism-specific biosystem (from REACTOME)
      Defects in vitamin and cofactor metabolism, organism-specific biosystemVitamins are essential nutrients, required in small amounts from the diet for the normal growth and development of a multicellular organism. Where there is vitamin deficiency, either by poor diet or ...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases of metabolism, organism-specific biosystem (from REACTOME)
      Diseases of metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
    • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cobalamin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cobalamin-transporting ATPase activity TAS
    Traceable Author Statement
    more info
     
    growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    B cell costimulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cobalamin metabolic process TAS
    Traceable Author Statement
    more info
     
    cobalamin transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of B cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of vitamin metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    endosome membrane TAS
    Traceable Author Statement
    more info
     
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane HDA PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    CD320 antigen
    Names
    8D6 antigen
    FDC-SM-8D6
    FDC-signaling molecule 8D6
    transcobalamin receptor

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028124.1 RefSeqGene

      Range
      5001..11230
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001165895.1NP_001159367.1  CD320 antigen isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AK058014, BC000668, CB141050
      Consensus CDS
      CCDS54210.1
      UniProtKB/Swiss-Prot
      Q9NPF0
      Related
      ENSP00000437697.1, OTTHUMP00000269357, ENST00000537716.6, OTTHUMT00000461365
      Conserved Domains (1) summary
      cd00112
      Location:90125
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    2. NM_016579.3NP_057663.1  CD320 antigen isoform 1 precursor

      See identical proteins and their annotated locations for NP_057663.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF161254, BC000668, CB141050
      Consensus CDS
      CCDS12198.1
      UniProtKB/Swiss-Prot
      Q9NPF0
      Related
      ENSP00000301458.4, OTTHUMP00000269358, ENST00000301458.9, OTTHUMT00000461366
      Conserved Domains (1) summary
      cd00112
      Location:5489
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

      Range
      8302127..8308356 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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