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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

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). CD320 augments the proliferation of PC precursors generated by IL-10. Receptor for the cellular uptake of transcobalamin bound cobalamin.2 Publications

GO - Molecular functioni

  • cobalamin binding Source: MGI
  • cobalamin transporter activity Source: Reactome

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Growth factor

Enzyme and pathway databases

BioCyciZFISH:ENSG00000167775-MONOMER.
ReactomeiR-HSA-196741. Cobalamin (Cbl, vitamin B12) transport and metabolism.
R-HSA-3359485. Defective CD320 causes methylmalonic aciduria.
SABIO-RKQ9NPF0.

Names & Taxonomyi

Protein namesi
Recommended name:
CD320 antigen
Alternative name(s):
8D6 antigen
FDC-signaling molecule 8D6
Short name:
FDC-SM-8D6
Transcobalamin receptor
Short name:
TCblR
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

HGNCiHGNC:16692. CD320.

Subcellular locationi

Topology

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

GO - Cellular componenti

  • endoplasmic reticulum Source: LIFEdb
  • endosome membrane Source: Reactome
  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: UniProtKB
  • plasma membrane Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Methylmalonic aciduria type TCblR (MMATC)1 Publication
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. Plasma vitamin B12 and total homocysteine are normal.
See also OMIM:613646

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 annotation
Disulfide bondi61 ↔ 80PROSITE-ProRule annotation
Disulfide bondi74 ↔ 89PROSITE-ProRule annotation
Glycosylationi126N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi132 ↔ 145PROSITE-ProRule annotation
Disulfide bondi139 ↔ 158PROSITE-ProRule annotation
Disulfide bondi152 ↔ 167PROSITE-ProRule annotation
Glycosylationi195N-linked (GlcNAc...)Sequence analysis1
Glycosylationi213N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ9NPF0.
MaxQBiQ9NPF0.
PaxDbiQ9NPF0.
PeptideAtlasiQ9NPF0.
PRIDEiQ9NPF0.

PTM databases

iPTMnetiQ9NPF0.
PhosphoSitePlusiQ9NPF0.

Expressioni

Tissue specificityi

Expressed abundantly on follicular dendritic cells (FDCs).1 Publication

Gene expression databases

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

Organism-specific databases

HPAiHPA014500.
HPA073489.

Interactioni

Protein-protein interaction databases

BioGridi119444. 27 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

Sequence similaritiesi

Contains 2 LDL-receptor class A domains.PROSITE-ProRule annotation

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

Gene3Di4.10.400.10. 2 hits.
InterProiIPR023415. LDLR_class-A_CS.
IPR002172. LDrepeatLR_classA_rpt.
[Graphical view]
PfamiPF00057. Ldl_recept_a. 2 hits.
[Graphical view]
PRINTSiPR00261. LDLRECEPTOR.
SMARTiSM00192. LDLa. 2 hits.
[Graphical view]
SUPFAMiSSF57424. SSF57424. 2 hits.
PROSITEiPS01209. LDLRA_1. 2 hits.
PS50068. LDLRA_2. 2 hits.
[Graphical view]

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 → R.1 PublicationCorresponds to variant rs2232775dbSNPEnsembl.1
Natural variantiVAR_06408088Missing Polymorphism; may be a risk factor for methylmalonic aciduria. 2 Publications1
Natural variantiVAR_047316220G → R.Corresponds to variant rs2336573dbSNPEnsembl.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

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]
UniGeneiHs.558499.

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...

Protein-protein interaction databases

BioGridi119444. 27 interactors.
IntActiQ9NPF0. 2 interactors.
MINTiMINT-4721416.
STRINGi9606.ENSP00000301458.

PTM databases

iPTMnetiQ9NPF0.
PhosphoSitePlusiQ9NPF0.

Polymorphism and mutation databases

BioMutaiCD320.
DMDMi74734303.

Proteomic databases

EPDiQ9NPF0.
MaxQBiQ9NPF0.
PaxDbiQ9NPF0.
PeptideAtlasiQ9NPF0.
PRIDEiQ9NPF0.

Protocols and materials databases

DNASUi51293.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi51293.
DisGeNETi51293.
GeneCardsiCD320.
HGNCiHGNC:16692. CD320.
HPAiHPA014500.
HPA073489.
MalaCardsiCD320.
MIMi606475. gene.
613646. phenotype.
neXtProtiNX_Q9NPF0.
OpenTargetsiENSG00000167775.
Orphaneti280183. Methylmalonic aciduria due to transcobalamin receptor defect.
PharmGKBiPA142672142.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000167775-MONOMER.
ReactomeiR-HSA-196741. Cobalamin (Cbl, vitamin B12) transport and metabolism.
R-HSA-3359485. Defective CD320 causes methylmalonic aciduria.
SABIO-RKQ9NPF0.

Miscellaneous databases

ChiTaRSiCD320. human.
GeneWikiiCD320.
GenomeRNAii51293.
PROiQ9NPF0.
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

Gene3Di4.10.400.10. 2 hits.
InterProiIPR023415. LDLR_class-A_CS.
IPR002172. LDrepeatLR_classA_rpt.
[Graphical view]
PfamiPF00057. Ldl_recept_a. 2 hits.
[Graphical view]
PRINTSiPR00261. LDLRECEPTOR.
SMARTiSM00192. LDLa. 2 hits.
[Graphical view]
SUPFAMiSSF57424. SSF57424. 2 hits.
PROSITEiPS01209. LDLRA_1. 2 hits.
PS50068. LDLRA_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCD320_HUMAN
AccessioniPrimary (citable) accession number: Q9NPF0
Secondary accession number(s): B2RDS5
, D6W668, F5H6D3, Q53HF7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 24, 2006
Last sequence update: October 1, 2000
Last modified: November 30, 2016
This is version 136 of the entry and version 1 of the sequence. [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
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.