Reactome | UniProt:P35475 IDUA

chain	signal peptide:1-27 chain:28-653
checksum	9D2399B22FD172BD
comment	CATALYTIC ACTIVITY Hydrolysis of unsulfated alpha-L-iduronosidic linkages in dermatan sulfate.SUBUNIT Monomer.SUBCELLULAR LOCATION Ubiquitous.PTM N-glycosylation at Asn-372 contributes to substrate binding and is required for full enzymatic activity.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the glycosyl hydrolase 39 family.
crossReference	[DatabaseIdentifier:12465179] RefSeq:NP_000194.2 [DatabaseIdentifier:12287902] Pharos - Targets:P35475 [DatabaseIdentifier:12268972] PRO:P35475 [DatabaseIdentifier:12193812] PDB:6I6R [DatabaseIdentifier:12193810] PDB:3W81 [DatabaseIdentifier:12193807] PDB:4OBR [DatabaseIdentifier:12193814] PDB:4MJ2 [DatabaseIdentifier:12193809] PDB:4OBS [DatabaseIdentifier:12193806] PDB:4KGJ [DatabaseIdentifier:12193811] PDB:3W82 [DatabaseIdentifier:12193813] PDB:4KH2 [DatabaseIdentifier:12193815] PDB:4MJ4 [DatabaseIdentifier:12193816] PDB:6I6X [DatabaseIdentifier:12193808] PDB:4KGL [DatabaseIdentifier:12135714] Orphanet:IDUA [DatabaseIdentifier:12127673] OpenTargets:ENSG00000127415 [DatabaseIdentifier:11843075] HPA:ENSG00000127415-IDUA [DatabaseIdentifier:11830488] HMDB Protein:HMDBP01593 [DatabaseIdentifier:11790055] GeneCards:IDUA [DatabaseIdentifier:11758857] ENSEMBL:ENST00000514224 [DatabaseIdentifier:11758858] ENSEMBL:ENST00000247933 [DatabaseIdentifier:11636159] ENSEMBL:ENSP00000425081 [DatabaseIdentifier:11636158] ENSEMBL:ENSP00000247933 [DatabaseIdentifier:11518308] ENSEMBL:ENSG00000127415
databaseName	UniProt
dbId	57080
description	recommendedName: Alpha-L-iduronidase ecNumber: 3.2.1.76
displayName	UniProt:P35475 IDUA
geneName	IDUA
identifier	P35475
isSequenceChanged	false
keyword	3D-structure Alternative splicing Disease variant Disulfide bond Glycoprotein Glycosidase Hydrolase Lysosome Mucopolysaccharidosis Proteomics identification Reference proteome Signal
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	IDUA
otherIdentifier	11744018_a_at 16963845 205057_PM_s_at 205057_s_at 205059_PM_s_at 205059_s_at 2714415 2714416 2714417 2714422 2714424 2714425 2714428 2714429 2714431 2714432 2714433 2714434 2714435 2714436 2714437 2714438 2714439 2714440 2714441 2714442 2714443 2714444 2714445 2714446 2714447 2714448 2714449 2714450 2714451 2714452 2714453 2714454 2714455 2714456 2714457 33155_at 3425 8093425 A_14_P200115 A_23_P167093 A_33_P3392087 GE60520 GO:0003940 GO:0004553 GO:0005102 GO:0005764 GO:0005975 GO:0005984 GO:0006027 GO:0006790 GO:0016787 GO:0016798 GO:0030163 GO:0030200 GO:0030209 GO:0030211 GO:0043202 GO:0070062 GO:1901135 HMNXSV003019884 Hs.89560.0.A1_3p_a_at ILMN_1703041 M74715_s_at M95740_at PH_hs_0004997 TC04000015.hg g4557660_3p_a_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-2207692] IDUA W402* [lysosomal lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2207687] IDUA Q70* [lysosomal lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2207700] IDUA P553R [lysosomal lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1678661] IDUA [lysosomal lumen] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12766622] UCSC:P35475 IDUA [ReferenceDNASequence:12112523] OMIM:252800 IDUA [ReferenceDNASequence:12096082] NCBI Gene:3425 IDUA [ReferenceDNASequence:12011989] Monarch:3425 IDUA [ReferenceDNASequence:11919010] KEGG:hsa:3425 IDUA [ReferenceDNASequence:11821711] HGNC:5391 IDUA [ReferenceDNASequence:11441237] dbSNP Gene:3425 IDUA [ReferenceDNASequence:11417188] CTD Gene:3425 IDUA [ReferenceDNASequence:11403613] COSMIC - genes:IDUA IDUA [ReferenceDNASequence:11382200] BioGPS Gene:3425 IDUA [ReferenceDNASequence:ensembl:ENSG00000127415] ENSEMBL:ENSG00000127415 IDUA
referenceTranscript	[ReferenceRNASequence:12646646] RefSeq:NM_000203.5 IDUA
schemaClass	ReferenceGeneProduct
secondaryIdentifier	IDUA_HUMAN B3KWK6
sequenceLength	653
species	[Species:48887] Homo sapiens
stId	uniprot:P35475
url	http://purl.uniprot.org/uniprot/P35475

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-2207692] IDUA W402* [lysosomal lumen] [EntityWithAccessionedSequence:R-HSA-2207687] IDUA Q70* [lysosomal lumen] [EntityWithAccessionedSequence:R-HSA-2207700] IDUA P553R [lysosomal lumen] [EntityWithAccessionedSequence:R-HSA-1678661] IDUA [lysosomal lumen]
(referenceSequence)	[NonsenseMutation:2207689] Nonsense mutation at L-tryptophan 402 [NonsenseMutation:2207699] Nonsense mutation at L-glutamine 70 [ReplacedResidue:2207695] L-proline 533 replaced with L-arginine

UniProt:P35475 IDUA Show undefined attributes

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