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Protein

CD320 antigen

Gene

CD320

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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
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

GO - Molecular functioni

  • calcium ion binding Source: UniProtKB
  • cobalamin binding Source: MGI
  • cobalamin transporter activity Source: Reactome
  • growth factor activity Source: UniProtKB-KW

GO - Biological processi

  • B cell costimulation Source: UniProtKB
  • cobalamin metabolic process Source: Reactome
  • cobalamin transport Source: UniProtKB
  • positive regulation of B cell proliferation Source: UniProtKB
  • regulation of vitamin metabolic process Source: Ensembl

Keywordsi

Molecular functionGrowth factor
LigandCalcium, Metal-binding

Enzyme and pathway databases

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

Names & Taxonomyi

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
Gene namesi
Name:CD320
Synonyms:8D6A
ORF Names:UNQ198/PRO224
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000167775.10.
HGNCiHGNC:16692. CD320.

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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini36 – 229ExtracellularSequence analysisAdd BLAST194
Transmembranei230 – 250HelicalSequence analysisAdd BLAST21
Topological domaini251 – 282CytoplasmicSequence analysisAdd BLAST32

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

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.
See also OMIM:613646
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

DisGeNETi51293.
MalaCardsiCD320.
MIMi613646. phenotype.
OpenTargetsiENSG00000167775.
Orphaneti280183. Methylmalonic aciduria due to transcobalamin receptor defect.
PharmGKBiPA142672142.

Polymorphism and mutation databases

BioMutaiCD320.
DMDMi74734303.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 351 PublicationAdd BLAST35
ChainiPRO_000004579836 – 282CD320 antigenAdd BLAST247

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi54 ↔ 67PROSITE-ProRule annotationCombined sources1 Publication
Disulfide bondi61 ↔ 80PROSITE-ProRule annotationCombined sources1 Publication
Disulfide bondi74 ↔ 89PROSITE-ProRule annotationCombined sources1 Publication
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

EPDiQ9NPF0.
MaxQBiQ9NPF0.
PaxDbiQ9NPF0.
PeptideAtlasiQ9NPF0.
PRIDEiQ9NPF0.

PTM databases

iPTMnetiQ9NPF0.
PhosphoSitePlusiQ9NPF0.

Expressioni

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

BgeeiENSG00000167775.
CleanExiHS_CD320.
ExpressionAtlasiQ9NPF0. baseline and differential.
GenevisibleiQ9NPF0. HS.

Organism-specific databases

HPAiHPA014500.
HPA073489.

Interactioni

Subunit structurei

Interacts (via LDL-receptor class A domains) with TCN2 (PubMed:27411955).1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119444. 28 interactors.
IntActiQ9NPF0. 2 interactors.
MINTiMINT-4721416.
STRINGi9606.ENSP00000301458.

Structurei

Secondary structure

1282
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi56 – 60Combined sources5
Helixi62 – 64Combined sources3
Beta strandi67 – 69Combined sources3
Helixi70 – 72Combined sources3
Beta strandi80 – 82Combined sources3
Helixi84 – 86Combined sources3
Beta strandi136 – 138Combined sources3
Beta strandi140 – 143Combined sources4
Beta strandi145 – 147Combined sources3
Helixi148 – 150Combined sources3
Beta strandi153 – 155Combined sources3
Helixi162 – 164Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4ZRPX-ray2.10C/D53-171[»]
4ZRQX-ray2.60C/D53-171[»]
ProteinModelPortaliQ9NPF0.
SMRiQ9NPF0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Compositional biasi101 – 104Poly-Pro4
Compositional biasi233 – 236Poly-Ala4
Compositional biasi247 – 250Poly-Leu4

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1215. Eukaryota.
ENOG410XP34. LUCA.
GeneTreeiENSGT00730000111436.
HOGENOMiHOG000111486.
HOVERGENiHBG056019.
InParanoidiQ9NPF0.
KOiK06734.
OMAiEECRIEP.
OrthoDBiEOG091G0M4G.
PhylomeDBiQ9NPF0.
TreeFamiTF337215.

Family and domain databases

CDDicd00112. LDLa. 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.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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.

Note: No experimental confirmation available.
Show »
Length:240
Mass (Da):24,371
Checksum:iC9C8DA52B93271C3
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0473158Q → R1 PublicationCorresponds to variant dbSNP:rs2232775Ensembl.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:rs2336573Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04536849 – 90Missing in isoform 2. 1 PublicationAdd BLAST42

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]
UniGeneiHs.558499.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCD320_HUMAN
AccessioniPrimary (citable) accession number: Q9NPF0
Secondary accession number(s): B2RDS5
, D6W668, F5H6D3, Q53HF7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2006
Last sequence update: October 1, 2000
Last modified: October 25, 2017
This is version 143 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, 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 chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references