Reactome | IDUA Q70* [lysosomal lumen]

IDUA Q70* [lysosomal lumen]

Stable Identifier

R-HSA-2207687

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

lysosomal lumen

Synonyms

Alpha-L-iduronidase, IDUA_HUMAN, p.Gln70Ter IDUA

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External Reference Information

External Reference

UniProt:P35475 IDUA

Gene Names

IDUA

Chain

signal peptide:1-27, chain:28-653

Reference Genes

BioGPS Gene:3425 IDUA

COSMIC (genes):IDUA IDUA

CTD Gene:3425 IDUA

dbSNP Gene:3425 IDUA

ENSEMBL:ENSG00000127415 IDUA

HGNC:5391 IDUA

KEGG:hsa:3425 IDUA

Monarch:3425 IDUA

NCBI Gene:3425 IDUA

OMIM:252800 IDUA

UCSC:P35475 IDUA

Reference Transcript

RefSeq:NM_000203.4 IDUA

Other Identifiers

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:0003824

GO:0003940

GO:0004553

GO:0005102

GO:0005764

GO:0005773

GO:0005975

GO:0005984

GO:0006027

GO:0006790

GO:0016787

GO:0016798

GO:0030163

GO:0030200

GO:0030209

GO:0030211

GO:0043202

GO:0043226

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

Participates

as a member of

IDUA mutants [lysosomal lumen] (Homo sapiens)

Other forms of this molecule

IDUA W402* [lysosomal lumen]

IDUA P553R [lysosomal lumen]

IDUA [lysosomal lumen]

Modified Residues

Name

Nonsense mutation at L-glutamine 70

Coordinate

PsiMod

L-glutamine removal [MOD:01637]

A protein modification that effectively removes or replaces an L-glutamine.

Disease

Name	Identifier	Synonyms
mucopolysaccharidosis I	DOID:12802	Lipochondrodystrophy, Mucopolysaccharidosis, type 1, Mucopolysaccharidosis, MPS-I (disorder), Mucopolysaccharidosis type I [Ambiguous], iduronidase deficiency disease

Cross References

ENSEMBL

ENST00000514224, ENSP00000425081, ENSG00000127415, ENSP00000247933, ENST00000247933

OpenTargets

ENSG00000127415

GeneCards

IDUA

HPA

ENSG00000127415-IDUA

PRO

P35475

Pharos - Targets

P35475

Orphanet

IDUA

HMDB Protein

HMDBP01593

PDB

4MJ2, 4KH2, 4KGJ, 6I6R, 3W81, 3W82, 4OBR, 4MJ4, 6I6X, 4OBS, 4KGL

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