CD320

Protein identityUniProt · HPA

UniProt accession

Q9NPF0

Gene

CD320

Ensembl

ENSG00000167775

Chromosome

19

Canonical length

282 aa

Protein class

CD markers, Disease related genes, Human disease related genes, Predicted membrane proteins

Subcellular location

Vesicles

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

282 residues, UniProt reviewed canonical sequence.

>Q9NPF0|CD320
     1  MSGGWMAQVG AWRTGALGLA LLLLLGLGLG LEAAASPLST PTSAQAAGPS SGSCPPTKFQ
    61  CRTSGLCVPL TWRCDRDLDC SDGSDEEECR IEPCTQKGQC PPPPGLPCPC TGVSDCSGGT
   121  DKKLRNCSRL ACLAGELRCT LSDDCIPLTW RCDGHPDCPD SSDELGCGTN EILPEGDATT
   181  MGPPVTLESV TSLRNATTMG PPVTLESVPS VGNATSSSAG DQSGSPTAYG VIAAAAVLSA
   241  SLVTATLLLL SWLRAQERLR PLGLLVAMKE SLLLSEQKTS LP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CD320 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.58

Highest tissue expression

65 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CD320.

Disease | AllUniProt

Conditions CD320 is implicated in, by any mechanism.

• Methylmalonic aciduria, transient, due to transcobalamin receptor defect (MATR) MIM:613646

ReferencesPubMed · IEDB

Publications for CD320 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.18

gnomAD pLI

0

gnomAD missense Z

0.24

DepMap mean gene effect

0.07

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• B cell costimulation
• cobalamin transport
• positive regulation of B cell proliferation
• regulation of vitamin metabolic process

Molecular functions

• calcium ion binding
• cargo receptor activity
• cobalamin binding
• growth factor activity

Cellular components

• endoplasmic reticulum
• membrane
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Low-density lipoprotein (LDL) receptor class A repeat
• Low-density lipoprotein (LDL) receptor class A, conserved site
• LDL receptor-like superfamily
• Low-density lipoprotein receptor
• Low-density lipoprotein receptor domain class A

KeywordsUniProt

• Calcium
• Cell membrane
• Disulfide bond
• Glycoprotein
• Growth factor
• Membrane
• Metal-binding
• Repeat
• Signal
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of CD320 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TCN2