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CD320 CD320 molecule [ Homo sapiens (human) ]

Gene ID: 51293, updated on 13-Feb-2019

Summary

Official Symbol
CD320provided by HGNC
Official Full Name
CD320 moleculeprovided by HGNC
Primary source
HGNC:HGNC:16692
See related
Ensembl:ENSG00000167775 MIM:606475
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; TCN2R
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 Apr 4 07:08:55 2018

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 2 receptor
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, ENST00000537716.6
    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_016579.4NP_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)
    AC010323
    Consensus CDS
    CCDS12198.1
    UniProtKB/Swiss-Prot
    Q9NPF0
    Related
    ENSP00000301458.4, ENST00000301458.9
    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

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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