Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 160 (22 Apr 2020)
Sequence version 1 (01 Oct 2000)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

CD320 antigen

Gene

CD320

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Receptor for transcobalamin saturated with cobalamin (TCbl) (PubMed:18779389). Plays an important role in cobalamin uptake (PubMed:18779389, PubMed:20524213). Plasma membrane protein that is expressed on follicular dendritic cells (FDC) and mediates interaction with germinal center B cells (PubMed:10727470). Functions as costimulator to promote B cell responses to antigenic stimuli; promotes B cell differentiation and proliferation (PubMed:10727470, PubMed:11418631). Germinal center-B (GC-B) cells differentiate into memory B-cells and plasma cells (PC) through interaction with T-cells and follicular dendritic cells (FDC) (PubMed:11418631). CD320 augments the proliferation of PC precursors generated by IL-10 (PubMed:11418631).4 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi72Calcium 1; via carbonyl oxygenCombined sources1 Publication1
Metal bindingi75Calcium 1Combined sources1 Publication1
Metal bindingi77Calcium 1; via carbonyl oxygenCombined sources1 Publication1
Metal bindingi79Calcium 1Combined sources1 Publication1
Metal bindingi85Calcium 1Combined sources1 Publication1
Metal bindingi86Calcium 1Combined sources1 Publication1
Metal bindingi150Calcium 2; via carbonyl oxygenCombined sources1 Publication1
Metal bindingi153Calcium 2Combined sources1 Publication1
Metal bindingi155Calcium 2; via carbonyl oxygenCombined sources1 Publication1
Metal bindingi157Calcium 2Combined sources1 Publication1
Metal bindingi163Calcium 2Combined sources1 Publication1
Metal bindingi164Calcium 2Combined sources1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGrowth factor
LigandCalcium, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism
R-HSA-3359485 Defective CD320 causes methylmalonic aciduria

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
Q9NPF0

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
CD320 antigen
Alternative name(s):
8D6 antigen1 Publication
FDC-signaling molecule 8D62 Publications
Short name:
FDC-SM-8D61 Publication
Transcobalamin receptor1 Publication
Short name:
TCblR2 Publications
CD_antigen: CD320
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CD320
Synonyms:8D6A
ORF Names:UNQ198/PRO224
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16692 CD320

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606475 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NPF0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini36 – 229ExtracellularSequence analysisAdd BLAST194
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei230 – 250HelicalSequence analysisAdd BLAST21
Topological domaini251 – 282CytoplasmicSequence analysisAdd BLAST32

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Methylmalonic aciduria, transient, due to transcobalamin receptor defect (MMATC)4 Publications
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic disorder characterized by increased blood C3-acylcarnitine levels, elevated methylmalonate and homocysteine, and low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06408088Missing in MMATC; unknown pathological significance; decreased function in cobalamin transport; does not affect stability; does not affect interaction with TCN2. 4 Publications1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
51293

MalaCards human disease database

More...
MalaCardsi
CD320
MIMi613646 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000167775

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
280183 Methylmalonic aciduria due to transcobalamin receptor defect

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672142

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NPF0 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CD320

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74734303

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 351 PublicationAdd BLAST35
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000004579836 – 282CD320 antigenAdd BLAST247

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi54 ↔ 67PROSITE-ProRule annotationCombined sources1 Publication
Disulfide bondi61 ↔ 80PROSITE-ProRule annotationCombined sources1 Publication
Disulfide bondi74 ↔ 89PROSITE-ProRule annotationCombined sources1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi126N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi132 ↔ 145PROSITE-ProRule annotationCombined sources1 Publication
Disulfide bondi139 ↔ 158PROSITE-ProRule annotationCombined sources1 Publication
Disulfide bondi152 ↔ 167PROSITE-ProRule annotationCombined sources1 Publication
Glycosylationi195N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi213N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NPF0

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NPF0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NPF0

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NPF0

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NPF0

PeptideAtlas

More...
PeptideAtlasi
Q9NPF0

PRoteomics IDEntifications database

More...
PRIDEi
Q9NPF0

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
27153
81981 [Q9NPF0-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NPF0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NPF0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Detected in the germinal center (GC) of lymphoid follicles (at protein level) (PubMed:11418631). Expressed abundantly on follicular dendritic cells (FDCs) (PubMed:10727470).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000167775 Expressed in mucosa of transverse colon and 208 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NPF0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NPF0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000167775 Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts (via LDL-receptor class A domains) with TCN2 (PubMed:27411955).

1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
119444, 30 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NPF0, 23 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000301458

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9NPF0 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1282
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9NPF0

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini53 – 90LDL-receptor class A 1PROSITE-ProRule annotationAdd BLAST38
Domaini131 – 168LDL-receptor class A 2PROSITE-ProRule annotationAdd BLAST38

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi101 – 104Poly-Pro4
Compositional biasi233 – 236Poly-Ala4
Compositional biasi247 – 250Poly-Leu4

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1215 Eukaryota
ENOG410XP34 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00730000111436

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_094249_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NPF0

KEGG Orthology (KO)

More...
KOi
K06734

Identification of Orthologs from Complete Genome Data

More...
OMAi
RIEPCTQ

Database of Orthologous Groups

More...
OrthoDBi
1306682at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NPF0

TreeFam database of animal gene trees

More...
TreeFami
TF337215

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00112 LDLa, 2 hits

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
4.10.400.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR036055 LDL_receptor-like_sf
IPR023415 LDLR_class-A_CS
IPR002172 LDrepeatLR_classA_rpt

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00057 Ldl_recept_a, 2 hits

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00261 LDLRECEPTOR

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00192 LDLa, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF57424 SSF57424, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01209 LDLRA_1, 2 hits
PS50068 LDLRA_2, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NPF0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSGGWMAQVG AWRTGALGLA LLLLLGLGLG LEAAASPLST PTSAQAAGPS
60 70 80 90 100
SGSCPPTKFQ CRTSGLCVPL TWRCDRDLDC SDGSDEEECR IEPCTQKGQC
110 120 130 140 150
PPPPGLPCPC TGVSDCSGGT DKKLRNCSRL ACLAGELRCT LSDDCIPLTW
160 170 180 190 200
RCDGHPDCPD SSDELGCGTN EILPEGDATT MGPPVTLESV TSLRNATTMG
210 220 230 240 250
PPVTLESVPS VGNATSSSAG DQSGSPTAYG VIAAAAVLSA SLVTATLLLL
260 270 280
SWLRAQERLR PLGLLVAMKE SLLLSEQKTS LP
Length:282
Mass (Da):28,991
Last modified:October 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i59E172986B220E4F
GO
Isoform 2 (identifier: Q9NPF0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     49-90: Missing.

Show »
Length:240
Mass (Da):24,371
Checksum:iC9C8DA52B93271C3
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0R100M0R100_HUMAN
CD320 antigen
CD320
88Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R1C4M0R1C4_HUMAN
CD320 antigen
CD320
81Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0473158Q → R1 PublicationCorresponds to variant dbSNP:rs2232775EnsemblClinVar.1
Natural variantiVAR_06408088Missing in MMATC; unknown pathological significance; decreased function in cobalamin transport; does not affect stability; does not affect interaction with TCN2. 4 Publications1
Natural variantiVAR_077921142S → G1 Publication1
Natural variantiVAR_047316220G → R1 PublicationCorresponds to variant dbSNP:rs2336573EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04536849 – 90Missing in isoform 2. 1 PublicationAdd BLAST42

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF161254 mRNA Translation: AAF61850.1
AL365455 mRNA Translation: CAB97010.1
AL136652 mRNA Translation: CAB66587.1
AY358420 mRNA Translation: AAQ88786.1
AK058014 mRNA No translation available.
AK315656 mRNA Translation: BAG38022.1
AK222623 mRNA Translation: BAD96343.1
CR457174 mRNA Translation: CAG33455.1
AC010323 Genomic DNA No translation available.
CH471139 Genomic DNA Translation: EAW68936.1
CH471139 Genomic DNA Translation: EAW68939.1
BC000668 mRNA Translation: AAH00668.1
BC007083 mRNA Translation: AAH07083.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12198.1 [Q9NPF0-1]
CCDS54210.1 [Q9NPF0-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001159367.1, NM_001165895.1 [Q9NPF0-2]
NP_057663.1, NM_016579.3 [Q9NPF0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000301458; ENSP00000301458; ENSG00000167775 [Q9NPF0-1]
ENST00000537716; ENSP00000437697; ENSG00000167775 [Q9NPF0-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
51293

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:51293

UCSC genome browser

More...
UCSCi
uc002mjj.3 human [Q9NPF0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF161254 mRNA Translation: AAF61850.1
AL365455 mRNA Translation: CAB97010.1
AL136652 mRNA Translation: CAB66587.1
AY358420 mRNA Translation: AAQ88786.1
AK058014 mRNA No translation available.
AK315656 mRNA Translation: BAG38022.1
AK222623 mRNA Translation: BAD96343.1
CR457174 mRNA Translation: CAG33455.1
AC010323 Genomic DNA No translation available.
CH471139 Genomic DNA Translation: EAW68936.1
CH471139 Genomic DNA Translation: EAW68939.1
BC000668 mRNA Translation: AAH00668.1
BC007083 mRNA Translation: AAH07083.1
CCDSiCCDS12198.1 [Q9NPF0-1]
CCDS54210.1 [Q9NPF0-2]
RefSeqiNP_001159367.1, NM_001165895.1 [Q9NPF0-2]
NP_057663.1, NM_016579.3 [Q9NPF0-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4ZRPX-ray2.10C/D53-171[»]
4ZRQX-ray2.60C/D53-171[»]
SMRiQ9NPF0
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi119444, 30 interactors
IntActiQ9NPF0, 23 interactors
STRINGi9606.ENSP00000301458

PTM databases

iPTMnetiQ9NPF0
PhosphoSitePlusiQ9NPF0

Polymorphism and mutation databases

BioMutaiCD320
DMDMi74734303

Proteomic databases

EPDiQ9NPF0
jPOSTiQ9NPF0
MassIVEiQ9NPF0
MaxQBiQ9NPF0
PaxDbiQ9NPF0
PeptideAtlasiQ9NPF0
PRIDEiQ9NPF0
ProteomicsDBi27153
81981 [Q9NPF0-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
3048 150 antibodies

The DNASU plasmid repository

More...
DNASUi
51293

Genome annotation databases

EnsembliENST00000301458; ENSP00000301458; ENSG00000167775 [Q9NPF0-1]
ENST00000537716; ENSP00000437697; ENSG00000167775 [Q9NPF0-2]
GeneIDi51293
KEGGihsa:51293
UCSCiuc002mjj.3 human [Q9NPF0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
51293
DisGeNETi51293

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CD320
HGNCiHGNC:16692 CD320
HPAiENSG00000167775 Low tissue specificity
MalaCardsiCD320
MIMi606475 gene
613646 phenotype
neXtProtiNX_Q9NPF0
OpenTargetsiENSG00000167775
Orphaneti280183 Methylmalonic aciduria due to transcobalamin receptor defect
PharmGKBiPA142672142

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1215 Eukaryota
ENOG410XP34 LUCA
GeneTreeiENSGT00730000111436
HOGENOMiCLU_094249_0_0_1
InParanoidiQ9NPF0
KOiK06734
OMAiRIEPCTQ
OrthoDBi1306682at2759
PhylomeDBiQ9NPF0
TreeFamiTF337215

Enzyme and pathway databases

ReactomeiR-HSA-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism
R-HSA-3359485 Defective CD320 causes methylmalonic aciduria
SABIO-RKiQ9NPF0

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
CD320 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CD320

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
51293
PharosiQ9NPF0 Tbio

Protein Ontology

More...
PROi
PR:Q9NPF0
RNActiQ9NPF0 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000167775 Expressed in mucosa of transverse colon and 208 other tissues
ExpressionAtlasiQ9NPF0 baseline and differential
GenevisibleiQ9NPF0 HS

Family and domain databases

CDDicd00112 LDLa, 2 hits
Gene3Di4.10.400.10, 2 hits
InterProiView protein in InterPro
IPR036055 LDL_receptor-like_sf
IPR023415 LDLR_class-A_CS
IPR002172 LDrepeatLR_classA_rpt
PfamiView protein in Pfam
PF00057 Ldl_recept_a, 2 hits
PRINTSiPR00261 LDLRECEPTOR
SMARTiView protein in SMART
SM00192 LDLa, 2 hits
SUPFAMiSSF57424 SSF57424, 2 hits
PROSITEiView protein in PROSITE
PS01209 LDLRA_1, 2 hits
PS50068 LDLRA_2, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCD320_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NPF0
Secondary accession number(s): B2RDS5
, D6W668, F5H6D3, Q53HF7
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2006
Last sequence update: October 1, 2000
Last modified: April 22, 2020
This is version 160 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again