Cd320 CD320 antigen [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cd320provided by MGI
Official Full Name: CD320 antigenprovided by MGI
Primary source: MGI:MGI:1860083
See related: Ensembl:ENSMUSG00000002308 AllianceGenome:MGI:1860083
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 8D6; NG29; VLDL; TCblR; 425O18-1; D17Ertd716e
Summary: Enables cargo receptor activity. Involved in cobalamin metabolic process. Acts upstream of or within regulation of vitamin metabolic process. Located in plasma membrane. Is expressed in several structures, including brain; genitourinary system; heart; immune system; and liver. Used to study methylmalonic acidemia due to transcobalamin receptor defect. Human ortholog(s) of this gene implicated in methylmalonic acidemia due to transcobalamin receptor defect. Orthologous to human CD320 (CD320 molecule). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in testis adult (RPKM 40.7), ovary adult (RPKM 24.7) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 B1; 17 17.98 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (34062065..34068748)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (33843091..33849774)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Atherosclerosis-associated hepatic secretion of VLDL but not PCSK9 is dependent on cargo receptor protein Surf4.
Title: Atherosclerosis-associated hepatic secretion of VLDL but not PCSK9 is dependent on cargo receptor protein Surf4.
Intracellular and Tissue Levels of Vitamin B12 in Hepatocytes Are Modulated by CD320 Receptor and TCN2 Transporter.
Title: Intracellular and Tissue Levels of Vitamin B12 in Hepatocytes Are Modulated by CD320 Receptor and TCN2 Transporter.
An alternative mechanism exists for mice to transport cobalamin independent of the Cd320 encoded receptor.
Title: Mice lacking the transcobalamin-vitamin B12 receptor, CD320, suffer from anemia and reproductive deficits when fed vitamin B12-deficient diet.
This study evaluated the role of transcobalamin (TC), the transcobalamin receptor (CD320) , and megalin in various tissues during pregnancy.
Title: Maternofetal transport of vitamin B(12): role of TCblR/CD320 and megalin.
CD320 role in the hippocampal long-term potentiation and the hippocampal pyramidal neurons.
Title: Behavioral alterations are associated with vitamin B12 deficiency in the transcobalamin receptor/CD320 KO mouse.
Severe cobalamin depletion in the central nervous system (CNS) after birth in TCblR knockouts indicates that TCblR is the only receptor responsible for cobalamin uptake in the CNS
Title: The transcobalamin receptor knockout mouse: a model for vitamin B12 deficiency in the central nervous system.
In vivo, endogenous PCSK9 regulates VLDLR protein levels and triglyceride accumulation in adipose tissue.
Title: Circulating proprotein convertase subtilisin/kexin 9 (PCSK9) regulates VLDLR protein and triglyceride accumulation in visceral adipose tissue.
Data show that thrombospondin-1 (THBS-1) is a novel physiological ligand for ApoER2 and VLDLR, and that lack of THBS-1 results in anatomical abnormalities of the RMS and leads to a reduction of postnatal neuronal precursors entering the OB.
Title: Thrombospondin-1 binds to ApoER2 and VLDL receptor and functions in postnatal neuronal migration.
The high affinity of apoE4 to the LDLR enhances VLDL sequestration on the hepatocyte surface but delays their internalization.
Title: Human LDL receptor enhances sequestration of ApoE4 and VLDL remnants on the surface of hepatocytes but not their internalization in mice.
Diabetic rats showed severe hyperlipidemia on d 21 and 28, with a dramatic decline in VLDL-R protein in skeletal muscle (>90%), heart (approximately 50%) and a loss of adipose tissues itself.
Title: Deficiency of the very low-density lipoprotein (VLDL) receptors in streptozotocin-induced diabetic rats: insulin dependency of the VLDL receptor.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5)
Gene trapped (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cd320 (e-PCR), detects polymorphism
- UniSTS:463395

RH136217 (e-PCR)
- UniSTS:210212

D17Ertd716e (e-PCR), detects polymorphism
- UniSTS:167225

NoName (e-PCR)
- UniSTS:548412

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables cargo receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables cargo receptor activity	ISO Inferred from Sequence Orthology more info
enables cobalamin binding	ISO Inferred from Sequence Orthology more info
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables lipoprotein particle binding	IBA Inferred from Biological aspect of Ancestor more info
enables low-density lipoprotein particle receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in B cell costimulation	ISO Inferred from Sequence Orthology more info
involved_in cholesterol homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cobalamin transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cobalamin transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of B cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in receptor-mediated endocytosis involved in cholesterol transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of vitamin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: CD320 antigen

Names: putative VLDL lipoprotein receptor; transcobalamin receptor

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001305169.1 → NP_001292098.1 CD320 antigen isoform 2 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks a 5' exon, uses an alternate 5' terminal exon, and initiates translation at an alternate downstream start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AK078151, AK131655, AK140204

Consensus CDS

CCDS79533.1

UniProtKB/TrEMBL

A0A068BES0

Related

ENSMUSP00000084839.8, ENSMUST00000087559.8

Conserved Domains (1) summary

cd00112
Location:33 → 68

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 ...
NM_019421.3 → NP_062294.3 CD320 antigen isoform 1 precursor

See identical proteins and their annotated locations for NP_062294.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AK078151, AK140204

Consensus CDS

CCDS28632.1

UniProtKB/Swiss-Prot

Q3V2Q4, Q7TSW0, Q8C2Q4, Q9CWC2, Q9Z1P5

UniProtKB/TrEMBL

A0A068BD29

Related

ENSMUSP00000002379.9, ENSMUST00000002379.15

Conserved Domains (1) summary

cd00112
Location:47 → 82

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 ...