Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3425
Gene name Gene Name - the full gene name approved by the HGNC.	Alpha-L-iduronidase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	IDUA
Synonyms (NCBI Gene) Gene synonyms aliases	IDA, MPS1, MPSI
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4p16.3
Summary Summary of gene provided in NCBI Entrez Gene.	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 th

Show/Hide all(89)

SNP ID	Visualize variation	Clinical significance	Consequence
rs4690223	G>A,T	Likely-pathogenic	Splice acceptor variant
rs11934801	G>A,C	Pathogenic, conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs121965019	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs121965021	C>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121965023	C>T	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs121965024	A>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121965025	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs121965026	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121965027	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121965030	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs121965031	C>A,G,T	Pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, stop gained, missense variant, non coding transcript variant
rs121965032	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121965033	T>C,G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs148789453	T>A,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs199794428	A>G,T	Pathogenic	Terminator codon variant, stop lost, non coding transcript variant
rs199801029	G>C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs200726100	C>G,T	Pathogenic	Stop gained, 5 prime UTR variant, non coding transcript variant, synonymous variant, coding sequence variant
rs368454909	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs369090960	G>A,C	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs387906504	T>G	Pathogenic	Stop lost, non coding transcript variant, terminator codon variant
rs398123254	G>A,C	Likely-pathogenic, pathogenic	Splice donor variant
rs398123256	G>A	Likely-pathogenic, pathogenic	Intron variant
rs398123258	C>-	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs532731688	C>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs587779401	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs727503967	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs745915863	G>A	Likely-pathogenic	Splice acceptor variant
rs746766617	C>G	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs746936485	C>A,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs754949360	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs756572099	C>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs761793564	->CT	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs762411583	G>A,C	Pathogenic	Intron variant, 5 prime UTR variant
rs762593235	->C	Conflicting-interpretations-of-pathogenicity	Intron variant, non coding transcript variant
rs762779421	G>A	Likely-pathogenic	Splice acceptor variant
rs762903007	A>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs764196171	C>A,G	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs768467230	C>A,G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained
rs772416503	C>G,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs776098539	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs776787370	C>G,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, synonymous variant
rs777295041	A>G	Pathogenic	Splice acceptor variant
rs779762183	->CCCCCATTTACA	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, inframe insertion
rs780615798	G>C	Pathogenic	Splice donor variant
rs786200915	->TGCTC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794727017	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794727701	G>A,C	Pathogenic	5 prime UTR variant, splice acceptor variant
rs794727840	G>A	Pathogenic	Splice donor variant
rs794727896	C>A,G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs869025584	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs875989946	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs875989947	->CTGC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs886043347	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs919151683	G>C	Likely-pathogenic	Splice donor variant
rs991612107	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs994902207	A>T	Likely-pathogenic	Splice acceptor variant
rs1033313360	C>A,G,T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, synonymous variant, non coding transcript variant
rs1064796754	A>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs1226056948	C>G	Pathogenic, uncertain-significance	Intron variant
rs1230096882	GAC>-	Likely-pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs1249951282	G>A,C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1293215555	G>A	Likely-pathogenic	Splice donor variant
rs1340421020	G>C,T	Pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs1356329915	G>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1430681871	G>A	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1434521185	G>A,C	Likely-pathogenic	Splice donor variant
rs1445719596	->CGCCCCC	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553916890	G>A	Likely-pathogenic	Splice acceptor variant
rs1553916950	->A	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, stop gained
rs1553916957	G>A	Likely-pathogenic	5 prime UTR variant, splice donor variant
rs1553917044	->A	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1553917192	G>T	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, stop gained
rs1553917209	C>-	Likely-pathogenic, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1553917428	T>G	Pathogenic	Splice donor variant
rs1553917483	G>T	Likely-pathogenic	Splice donor variant, non coding transcript variant
rs1553917558	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553917566	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553917580	C>G	Likely-pathogenic	Splice donor variant
rs1553917699	A>G	Likely-pathogenic	Splice acceptor variant
rs1553917733	A>G	Likely-pathogenic	Splice acceptor variant
rs1553917735	CA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553917737	TG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553917746	TGGACTACTGGGCCCGACCAGGCCC>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553917747	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553917754	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553917756	T>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1560545883	T>-	Likely-pathogenic	5 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1577541504	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1577544451	G>A	Pathogenic-likely-pathogenic	Splice donor variant, non coding transcript variant

Show/Hide all(13)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016737	hsa-miR-335-5p	Microarray	18185580
MIRT1059713	hsa-miR-103a	CLIP-seq
MIRT1059714	hsa-miR-107	CLIP-seq
MIRT1059715	hsa-miR-128	CLIP-seq
MIRT1059716	hsa-miR-148a	CLIP-seq
MIRT1059717	hsa-miR-148b	CLIP-seq
MIRT1059718	hsa-miR-152	CLIP-seq
MIRT1059719	hsa-miR-3616-3p	CLIP-seq
MIRT1059720	hsa-miR-3944-5p	CLIP-seq
MIRT1059721	hsa-miR-4436b-3p	CLIP-seq
MIRT1059713	hsa-miR-103a	CLIP-seq
MIRT1059714	hsa-miR-107	CLIP-seq
MIRT1059715	hsa-miR-128	CLIP-seq

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003940	Function	L-iduronidase activity	IBA
GO:0003940	Function	L-iduronidase activity	IDA	24036510
GO:0003940	Function	L-iduronidase activity	IEA
GO:0003940	Function	L-iduronidase activity	TAS	2470345
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005984	Process	Disaccharide metabolic process	TAS	2470345
GO:0006027	Process	Glycosaminoglycan catabolic process	IEA
GO:0006027	Process	Glycosaminoglycan catabolic process	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0030200	Process	Heparan sulfate proteoglycan catabolic process	IEA
GO:0030200	Process	Heparan sulfate proteoglycan catabolic process	TAS
GO:0030209	Process	Dermatan sulfate proteoglycan catabolic process	IDA	24036510
GO:0030209	Process	Dermatan sulfate proteoglycan catabolic process	IEA
GO:0030211	Process	Heparin proteoglycan catabolic process	IEA
GO:0030211	Process	Heparin proteoglycan catabolic process	IMP	21873421
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
252800	5391	ENSG00000127415

Protein

UniProt ID

P35475

Protein name

Alpha-L-iduronidase (EC 3.2.1.76)

PDB

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01229	Glyco_hydro_39	30 → 543	Glycosyl hydrolases family 39	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MRPLRPRAALLALLASLLAAPPVAPAEAPHLVHVDAARALWPLRRFWRSTGFCPPLPHSQ
ADQYVLSWDQQLNLAYVGAVPHRGIKQVRTHWLLELVTTRGSTGRGLSYNFTHLDGYLDL
LRENQLLPGFELMGSASGHFTDFEDKQQVFEWKDLVSSLARRYIGRYGLAHVSKWNFETW
NEPDHHDFDNVSMTMQGFLNYYDACSEGLRAASPALRLGGPGDSFHTPPRSPLSWGLLRH
CHDGTNFFTGEAGVRLDYISLHRKGARSSISILEQEKVVAQQIRQLFPKFADTPIYNDEA
DPLVGWSLPQPWRADVTYAAMVVKVIAQHQNLLLANTTSAFPYALLSNDNAFLSYHPHPF
AQRTLTARFQVNNTRPPHVQLLRKPVLTAMGLLALLDEEQLWAEVSQAGTVLDSNHTVGV
LASAHRPQGPADAWRAAVLIYASDDTRAHPNRSVAVTLRLRGVPPGPGLVYVTRYLDNGL
CSPDGEWRRLGRPVFPTAEQFRRMRAAEDPVAAAPRPLPAGGRLTLRPALRLPSLLLVHV
CARPEKPPGQVTRLRALPLTQGQLVLVWSDEHVGSKCLWTYEIQFSQDGKAYTPVSRKPS
TFNLFVFSPDTGAVSGSYRVRALDYWARPGPFSDPVPYLEVPVPRGPPSPGNP

Sequence length

653

Interactions

View interactions

	KEGG		Reactome
	Glycosaminoglycan degradation Metabolic pathways Lysosome		HS-GAG degradation CS/DS degradation MPS I - Hurler syndrome

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hurler syndrome	hurler syndrome	rs121965023, rs1553917209, rs1230096882, rs758452450, rs1553914935, rs1553917733, rs886043347, rs750496798, rs1553917483, rs786200915, rs1553917044, rs1386109118, rs777295041, rs1553917566, rs779762183 View all (69 more)	N/A
Mucopolysaccharidosis	Mucopolysaccharidosis type 1, Mucopolysaccharidosis, MPS-I-S, Mucopolysaccharidosis, MPS-I-H/S	rs1553917756, rs1577508801, rs398123260, rs776787370, rs991612107, rs387906504, rs1293215555, rs1386109118, rs777295041, rs121965033, rs1553917566, rs1249951282, rs121965023, rs1553917754, rs4690223 View all (80 more)	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Brain Diseases	Associate	24368159
Carcinoma Renal Cell	Associate	33287763, 33836688
Cognition Disorders	Associate	24368159
Cognitive Dysfunction	Associate	24368159
Corneal Injuries	Inhibit	26899286
Cystic Fibrosis	Associate	37651229
Cytochrome c Oxidase Deficiency	Associate	23898885
Depressive Disorder	Associate	24368159
Diabetes Mellitus	Associate	31446444
Diabetic Retinopathy	Associate	21873659
Epidermolysis Bullosa Junctional	Associate	33764477
Fractures Bone	Associate	31275456
Glycogen Storage Disease Type II	Associate	23465405, 35787971
Heart Defects Congenital	Associate	31758674
Heart Valve Diseases	Associate	31758674
Hemihyperplasia Isolated	Associate	11861306, 27910891
Hydrocephalus	Associate	24368159
Immunologic Deficiency Syndromes	Associate	23898885
Kidney Neoplasms	Associate	33287763
Lysosomal Storage Diseases	Associate	21663559
Mental Disorders	Associate	24368159
Mucopolysaccharidoses	Associate	31758674
Mucopolysaccharidosis I	Associate	10702409, 12047386, 12509712, 19396826, 1946389, 199964, 21521498, 21639919, 22074387, 23959878, 24036510, 24368159, 26382970, 26899286, 27196898 View all (21 more)
Mucopolysaccharidosis I	Inhibit	1550122, 22074387, 23898885, 29239447, 30052969, 36494569
Mucopolysaccharidosis III	Associate	27511503, 31544795
Mucopolysaccharidosis III	Inhibit	39754079
Myelodysplastic Syndromes	Inhibit	37171402
Neoplasms	Associate	30961553
Osteoporosis	Associate	31275456
Osteoporotic Fractures	Associate	31275456
Parkinson Disease	Associate	24956270, 27508417, 36901867
Pediatric acute onset neuropsychiatric syndrome	Associate	24368159
Sleep Wake Disorders	Associate	24368159
Spinal Cord Compression	Associate	24368159

IDUA (alpha-L-iduronidase)