Reactome | CD320 E88del [plasma membrane]

CD320 E88del [plasma membrane]

Stable Identifier

R-HSA-3325560

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

CD320 antigen, CD320_HUMAN, CD320

Icon

Locations in the PathwayBrowser for interactor UniProt:Q9UBU6 FA8A1

Expand all

External Reference Information

External Reference

UniProt:Q9NPF0 CD320

Gene Names

CD320, 8D6A, UNQ198/PRO224

Chain

signal peptide:1-35, chain:36-282

Reference Genes

BioGPS Gene:51293 CD320

COSMIC (genes):CD320 CD320

CTD Gene:51293 CD320

dbSNP Gene:51293 CD320

ENSEMBL:ENSG00000167775 CD320

HGNC:16692 CD320

KEGG:hsa:51293 CD320

Monarch:51293 CD320

NCBI Gene:51293 CD320

OMIM:606475 CD320

UCSC:Q9NPF0 CD320

Reference Transcript

Other Identifiers

11717750_a_at

16868130

218529_PM_at

218529_at

3848872

3848873

3848875

3848876

3848877

3848878

3848879

3848880

3848881

3848883

3848884

48057_at

51293

69559_i_at

69562_r_at

8033554

A_23_P119698

GE54934

GO:0002376

GO:0005509

GO:0005515

GO:0005783

GO:0005886

GO:0005901

GO:0007165

GO:0008083

GO:0015889

GO:0016020

GO:0016192

GO:0021517

GO:0030656

GO:0030890

GO:0031296

GO:0031419

GO:0038024

GO:0043226

GO:0046872

GO:0048018

GO:0048856

GO:0098772

ILMN_2115633

PH_hs_0023843

PH_hs_0037136

TC19001127.hg

g7706110_3p_at

Participates

as an input of

Defective CD320 does not transport extracellular TCII:Cbl to endosome (Homo sapiens)

Other forms of this molecule

CD320 [plasma membrane]

Modified Residues

Name

Deletion of residues 88 to 88

Disease

Name	Identifier	Synonyms
methylmalonic acidemia	DOID:14749	METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE deficiency, METHYLMALONIC ACIDURIA, mut TYPE, METHYLMALONIC ACIDEMIA, cblB TYPE, methylmalonic aciduria mut type, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B, methylmalonic aciduria cblB type, METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE, methylmalonic aciduria, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE, METHYLMALONIC ACIDEMIA, cblA TYPE, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A

Cross References

RefSeq

NP_057663.1, NP_001159367.1

OpenTargets

ENSG00000167775

ENSEMBL

ENST00000301458, ENSP00000437697, ENST00000537716, ENSP00000301458

HPA

ENSG00000167775-CD320

PRO

Q9NPF0

Pharos - Targets

Q9NPF0

Orphanet

CD320

GlyGen

Q9NPF0

PDB

4ZRQ, 4ZRP, 7QBD, 7QBF, 7QBE, 7QBG

HMDB Protein

HMDBP10792

Interactors (18)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P20062 TCN2	4	TCII P259R [extracellular region] (R-HSA-3315449) TCN2 [plasma membrane] (R-HSA-9758895) TCN2 [extracellular region] (R-HSA-2980925) TCN2 [lysosomal lumen] (R-HSA-3000262)	0.678	11
UniProt:P15260 IFNGR1	2	IFNGR1 [plasma membrane] (R-HSA-629623) p-Y457-IFNGR1 [plasma membrane] (R-HSA-873798)	0.527	2
UniProt:Q86TY3 ARMD4			0.527	2
UniProt:P43005 SLC1A1	4	SLC1A1 [plasma membrane] (R-HSA-210414) SLC1A1 R445W [plasma membrane] (R-HSA-5625045) SLC1A1 84kb_del [plasma membrane] (R-HSA-5625040) SLC1A1 I395del [plasma membrane] (R-HSA-5625023)	0.527	2
UniProt:Q01151 CD83			0.527	2
UniProt:Q96B67 ARRD3			0.527	2
UniProt:Q96G30 MRAP2			0.527	2
UniProt:Q04771 ACVR1			0.527	2
UniProt:P01730 CD4	4	CD4 [plasma membrane] (R-HSA-167542) CD4 [endoplasmic reticulum membrane] (R-HSA-180575) CD4 [early endosome] (R-HSA-182147) CD4 [clathrin-coated endocytic vesicle membrane] (R-HSA-8869082)	0.527	2
UniProt:Q9H3N1 TMX1			0.527	3
UniProt:Q8NHX9 TPCN2	1	TPCN2 [lysosomal membrane] (R-HSA-2685518)	0.527	2
UniProt:P31785 IL2RG	4	IL2RG [endosome] (R-HSA-8983165) p-Y-IL2RG [cytosol] (R-HSA-9009721) p-Y-IL2RG [plasma membrane] (R-HSA-6786103) IL2RG [plasma membrane] (R-HSA-449139)	0.527	2
UniProt:Q96CE8 T4S18			0.527	3
UniProt:Q99732 LITAF			0.527	2
UniProt:P36941 LTBR	1	LTBR [plasma membrane] (R-HSA-5668750)	0.527	2
UniProt:O00220 TNFRSF10A	1	TNFRSF10A [plasma membrane] (R-HSA-5633393)	0.527	3
UniProt:Q9UBU6 FA8A1			0.527	2
UniProt:O60637 TSN3			0.527	2