CD320 E88del

Stable Identifier
R-HSA-3325560
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
CD320 antigen, CD320_HUMAN, CD320
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
CD320, 8D6A, UNQ198/PRO224
Chain
signal peptide:1-35, chain:36-282
Other Identifiers
0005700292
11717750_a_at
14500
16868130
218529_at
3848872
3848873
3848875
3848876
3848877
3848878
3848880
3848883
3848884
48057_at
4ZRP
4ZRQ
51293
69559_i_at
73489
8033554
A_23_P119698
AAF61850
AAH00668
AAH07083
AAQ88786
AC010323
AF161254
AK058014
AK222623
AK315656
AL136652
AL365455
AY358420
BAD96343
BAG38022
BC000668
BC007083
CAB66587
CAB97010
CAG33455
CCDS12198
CCDS54210
CD320
CD320-201
CD320-202
CH471139
CR457174
EAW68936
EAW68939
ENSG00000167775
ENSP00000301458
ENSP00000437697
ENST00000301458
ENST00000537716
EntrezGene:51293
g7706110_3p_at
GE54934
GO:0002376
GO:0003674
GO:0005509
GO:0005515
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005768
GO:0005783
GO:0005886
GO:0005887
GO:0006810
GO:0007165
GO:0008083
GO:0008150
GO:0008283
GO:0009235
GO:0010008
GO:0010469
GO:0015420
GO:0015889
GO:0016020
GO:0016021
GO:0016887
GO:0022857
GO:0030656
GO:0030890
GO:0031296
GO:0031410
GO:0031419
GO:0043167
GO:0043226
GO:0044281
GO:0046872
GO:0051186
HGNC:16692
HPA014500
HPA073489
ILMN_1670574
ILMN_2115633
IPR002172
IPR023415
IPR036055
M0R1C4
MIM:606475
MIM:613646
NM_001165895
NM_016579
NP_001159367
NP_057663
PF00057
PH_hs_0023843
PR00261
SM00192
TC19001127.hg
uc002mjj.3
uc002mjl.3
UPI0000037B71
UPI000059D656
Participant Of
Other forms of this molecule
Modified Residues
Name
L-glutamic acid 88 replaced with unknown
Coordinate
88
PsiMod HEY
A protein modification that effectively removes or replaces an L-glutamic acid.
Disease
Name Identifier Synonyms
methylmalonic acidemia 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
GeneCards
PRO
Orphanet
PDB
HMDB Protein