IDUA Q70* [lysosomal lumen]

Stable Identifier
R-HSA-2207687
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Alpha-L-iduronidase, IDUA_HUMAN, p.Gln70Ter IDUA
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
IDUA
Chain
signal peptide:1-27, chain:28-653
Reference Transcript
Other Identifiers
0006350025
11744018_a_at
16963845
1Y24
205057_s_at
205059_s_at
25901
2714415
2714416
2714417
2714429
2714431
2714434
2714437
2714439
2714441
2714443
2714444
2714446
2714447
2714449
2714451
2714452
2714453
2714454
2714455
33155_at
3425
3W81
3W82
46979
4KGJ
4KGL
4KH2
4MJ2
4MJ4
4OBR
4OBS
54254
6I6R
6I6X
8093425
A_23_P167093
A_33_P3392087
AAA51698
AAA81589
AC019103
AK125223
BAG54168
CAB025901
CCDS3343
D6R9D5
ENSG00000127415
ENSP00000247933
ENST00000247933
ENST00000247933.8
EntrezGene:3425
EntrezGene:IDUA
g4557660_3p_a_at
GE60520
GO:0003674
GO:0003940
GO:0004553
GO:0005102
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005737
GO:0005764
GO:0005773
GO:0005975
GO:0005984
GO:0006027
GO:0006790
GO:0008150
GO:0008152
GO:0009056
GO:0016787
GO:0016798
GO:0030135
GO:0030207
GO:0030209
GO:0030211
GO:0031410
GO:0043202
GO:0043226
GO:0044281
GO:0070062
HGNC:5391
HPA046979
HPA054254
Hs.89560.0.A1_3p_a_at
IDUA
IDUA-201
ILMN_1703041
IPR000514
IPR013783
IPR017853
M74715
M74715_s_at
M95739
M95740
M95740_at
MIM:252800
MIM:607014
MIM:607015
MIM:607016
NR_110313
PF01229
PH_hs_0004997
PR00745
TC04000015.hg
UPI00004571D0
XM_011513461
XP_011511763
XR_924947
Participant Of
Other forms of this molecule
Modified Residues
Name
L-glutamine 70 replaced with unknown
Coordinate
70
PsiMod
A protein modification that effectively removes or replaces an L-glutamine.
Disease
Name Identifier Synonyms
mucopolysaccharidosis I 12802 Lipochondrodystrophy, Mucopolysaccharidosis, type 1, Mucopolysaccharidosis, MPS-I (disorder), Mucopolysaccharidosis type I [Ambiguous], iduronidase deficiency disease
Cross References
RefSeq
OpenTargets
GeneCards
PRO
Orphanet
HMDB Protein