Cell atlas - IDUA - The Human Protein Atlas

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IDUA

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TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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GENERAL INFORMATION
Gene name	IDUA
Gene description	Iduronidase, alpha-L-
Protein class	Disease related genes Enzymes Plasma proteins Potential drug targets Predicted intracellular proteins Predicted secreted proteins
Predicted localization	Intracellular,Secreted
Number of transcripts	6
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Cell line enhanced (U-266/70)
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (U-266/70) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

GENE INFORMATION
Gene name	IDUA (HGNC Symbol)
Synonyms	MPS1
Description	Iduronidase, alpha-L- (HGNC Symbol)
Entrez gene summary	This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]
Chromosome	4
Cytoband	p16.3
Chromosome location (bp)	986997 - 1004506
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000127415 (version 83.38)
Entrez gene	3425
UniProt	P35475 (UniProt - Evidence at protein level)
neXtProt	NX_P35475
Antibodypedia	IDUA antibodies

PROTEIN BROWSER

IDUA-001	IDUA-004	IDUA-005	IDUA-007	IDUA-010	IDUA-011

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
IDUA-001 ENSP00000247933 ENST00000247933	P35475 [Direct mapping] Alpha-L-iduronidase Show all	Enzymes ENZYME proteins Hydrolases Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000902 [cell morphogenesis] GO:0003940 [L-iduronidase activity] GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds] GO:0005102 [receptor binding] GO:0005764 [lysosome] GO:0005975 [carbohydrate metabolic process] GO:0005984 [disaccharide metabolic process] GO:0006027 [glycosaminoglycan catabolic process] GO:0007040 [lysosome organization] GO:0030135 [coated vesicle] GO:0030203 [glycosaminoglycan metabolic process] GO:0030204 [chondroitin sulfate metabolic process] GO:0030207 [chondroitin sulfate catabolic process] GO:0030209 [dermatan sulfate catabolic process] GO:0035108 [limb morphogenesis] GO:0043202 [lysosomal lumen] GO:0044281 [small molecule metabolic process] GO:0048705 [skeletal system morphogenesis] GO:0048878 [chemical homeostasis] GO:0070062 [extracellular exosome] Show all	653 aa 72.7 kDa	Yes	0
IDUA-004 ENSP00000425081 ENST00000514224	D6REB5 [Direct mapping] Alpha-L-iduronidase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds] GO:0005975 [carbohydrate metabolic process] Show all	521 aa 57.9 kDa	No	0
IDUA-005 ENSP00000422952 ENST00000502910	D6R9D5 [Direct mapping] Alpha-L-iduronidase Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds] GO:0005975 [carbohydrate metabolic process] Show all	224 aa 25.2 kDa	Yes	0
IDUA-007 ENSP00000424847 ENST00000504568	H0Y9R9 [Direct mapping] Alpha-L-iduronidase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds] GO:0005975 [carbohydrate metabolic process] Show all	196 aa 21.9 kDa	No	0
IDUA-010 ENSP00000423685 ENST00000514192	H0Y9B3 [Direct mapping] Alpha-L-iduronidase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds] GO:0005975 [carbohydrate metabolic process] Show all	232 aa 25.6 kDa	No	0
IDUA-011 ENSP00000424227 ENST00000509948	D6RBD5 [Direct mapping] Alpha-L-iduronidase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds] GO:0005975 [carbohydrate metabolic process] Show all	176 aa 19.8 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.