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IDUA alpha-L-iduronidase [ Homo sapiens (human) ]

Gene ID: 3425, updated on 23-Nov-2023

Summary

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Official Symbol
IDUAprovided by HGNC
Official Full Name
alpha-L-iduronidaseprovided by HGNC
Primary source
HGNC:HGNC:5391
See related
Ensembl:ENSG00000127415 MIM:252800; AllianceGenome:HGNC:5391
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IDA; MPS1; MPSI
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]
Expression
Ubiquitous expression in spleen (RPKM 4.2), stomach (RPKM 4.1) and 25 other tissues See more
Orthologs
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Genomic context

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See IDUA in Genome Data Viewer
Location:
4p16.3
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (986997..1008351)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (985128..1002611)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (980785..998352)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21140 Neighboring gene transmembrane protein 175 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:938924-939517 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:957241-957400 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:961731-962444 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:962445-963158 Neighboring gene uncharacterized LOC124900645 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:963506-964024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:965861-966501 Neighboring gene diacylglycerol kinase theta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:973450-974030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21142 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:981121-981298 Neighboring gene solute carrier family 26 member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:983059-983560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:983561-984060 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:986529-987340 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:987341-988152 Neighboring gene uncharacterized LOC124900646 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:997000-997557 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1003737-1004369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15121 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1007938-1008741 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1008742-1009544 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1011927-1012796 Neighboring gene fibroblast growth factor receptor like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1019533-1020034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1020035-1020534 Neighboring gene uncharacterized LOC105374343 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1030079-1030899 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1032665-1033598 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:1035128-1035326 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:1035707-1035888

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mucopolysaccharidoses type I gene therapy. Hurt SC, et al. J Inherit Metab Dis, 2021 Sep. PMID 34189746, Free PMC Article
  2. Estimated birth prevalence of mucopolysaccharidoses in Brazil. Federhen A, et al. Am J Med Genet A, 2020 Mar. PMID 31926052
  3. Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree. Zhou YA, et al. Mol Genet Genomic Med, 2020 Jan. PMID 31758674, Free PMC Article
  4. Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1. Zahoor MY, et al. J Pediatr Endocrinol Metab, 2019 Nov 26. PMID 31473686
  5. IDUA gene mutations in mucopolysaccharidosis type-1 patients from two Pakistani inbred families. Gul R, et al. Congenit Anom (Kyoto), 2020 Jul. PMID 31400021

See all (93) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A Novel IDUA Mutation Causing Ocular Disease in 2 Siblings.
    Title: A Novel IDUA Mutation Causing Ocular Disease in 2 Siblings.
  2. Why SNP rs3755955 is associated with human bone mineral density? A molecular and cellular study in bone cells.
    Title: Why SNP rs3755955 is associated with human bone mineral density? A molecular and cellular study in bone cells.
  3. Mucopolysaccharidoses type I gene therapy.
    Title: Mucopolysaccharidoses type I gene therapy.
  4. IDUA gene mutations in mucopolysaccharidosis type-1 patients from two Pakistani inbred families.
    Title: IDUA gene mutations in mucopolysaccharidosis type-1 patients from two Pakistani inbred families.
  5. Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.
    Title: Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.
  6. Mucopolysaccharidosis Type I Phenotypically Corrected with Edited Hematopoietic Stem Cells: Instead of altering the IDUA gene, a protein was inserted in a repurposable place in the genome known as a ""safe harbor locus"".
    Title: Mucopolysaccharidosis Type I Phenotypically Corrected with Edited Hematopoietic Stem Cells: Instead of altering the IDUA gene, a protein was inserted in a repurposable place in the genome known as a "safe harbor locus".
  7. Estimated birth prevalence of mucopolysaccharidoses in Brazil.
    Title: Estimated birth prevalence of mucopolysaccharidoses in Brazil.
  8. "Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay.
    Title: "Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay.
  9. IDUA gene mutation is associated with mucopolysaccharidosis type 1.
    Title: Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.
  10. Missense mutations in IUDA gene are associated with mucopolysaccharidosis type I.
    Title: Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I.
Submit: New GeneRIF Correction See all GeneRIFs (44)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables L-iduronidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables L-iduronidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables L-iduronidase activity TAS
Traceable Author Statement
more info
  
enables signaling receptor binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in dermatan sulfate catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in disaccharide metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in glycosaminoglycan catabolic process TAS
Traceable Author Statement
more info
  
involved_in heparan sulfate proteoglycan catabolic process TAS
Traceable Author Statement
more info
  
acts_upstream_of_or_within heparin catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in lysosomal lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
alpha-L-iduronidase
Names
iduronidase alpha-L-
mucopolysaccharidosis type I
NP_000194.2
NP_001350505.1
XP_011511763.1
XP_047271604.1
XP_047271605.1
XP_047271606.1
XP_047271607.1
XP_047271608.1
XP_054205907.1
XP_054205908.1
XP_054205909.1
XP_054205910.1
XP_054205911.1
XP_054205912.1
XP_054205913.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008103.1 RefSeqGene

    Range
    5048..22568
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1277

mRNA and Protein(s)

  1. NM_000203.5 → NP_000194.2  alpha-L-iduronidase isoform a precursor

    See identical proteins and their annotated locations for NP_000194.2

    Status: REVIEWED

    Source sequence(s)
    AC019103, M74715
    Consensus CDS
    CCDS3343.1
    UniProtKB/Swiss-Prot
    B3KWK6, P35475
    UniProtKB/TrEMBL
    A8K701
    Related
    ENSP00000425081.2, ENST00000514224.2
    Conserved Domains (2) summary
    cl21522
    Location:544 → 636
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cl23725
    Location:30 → 543
    Glyco_hydro_1; Glycosyl hydrolase family 1

  2. NM_001363576.1 → NP_001350505.1  alpha-L-iduronidase isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AC019103, AK098805
    Related
    ENST00000652070.1
    Conserved Domains (1) summary
    cl23725
    Location:1 → 411
    Glyco_hydro_1; Glycosyl hydrolase family 1

RNA

  1. NR_110313.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC019103, AK125223, BC029959, BC099922, DA488352
    Related
    ENST00000514698.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    986997..1008351
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047415649.1 → XP_047271605.1  alpha-L-iduronidase isoform X1

    UniProtKB/Swiss-Prot
    B3KWK6, P35475
    UniProtKB/TrEMBL
    A8K701

  2. XM_047415648.1 → XP_047271604.1  alpha-L-iduronidase isoform X1

    UniProtKB/Swiss-Prot
    B3KWK6, P35475
    UniProtKB/TrEMBL
    A8K701

  3. XM_047415650.1 → XP_047271606.1  alpha-L-iduronidase isoform X2

    UniProtKB/TrEMBL
    Q56A80

  4. XM_047415651.1 → XP_047271607.1  alpha-L-iduronidase isoform X4

    UniProtKB/TrEMBL
    A8K701

  5. XM_011513461.3 → XP_011511763.1  alpha-L-iduronidase isoform X3

    UniProtKB/TrEMBL
    A8K701
    Conserved Domains (2) summary
    cl21522
    Location:475 → 567
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cl23725
    Location:31 → 474
    Glyco_hydro_1; Glycosyl hydrolase family 1

  6. XM_047415652.1 → XP_047271608.1  alpha-L-iduronidase isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    985128..1002611
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349932.1 → XP_054205907.1  alpha-L-iduronidase isoform X6

    UniProtKB/TrEMBL
    A8K701

  2. XM_054349934.1 → XP_054205909.1  alpha-L-iduronidase isoform X2

    UniProtKB/TrEMBL
    Q56A80

  3. XM_054349938.1 → XP_054205913.1  alpha-L-iduronidase isoform X9

  4. XM_054349937.1 → XP_054205912.1  alpha-L-iduronidase isoform X8

  5. XM_054349935.1 → XP_054205910.1  alpha-L-iduronidase isoform X4

    UniProtKB/TrEMBL
    A8K701

  6. XM_054349936.1 → XP_054205911.1  alpha-L-iduronidase isoform X3

    UniProtKB/TrEMBL
    A8K701

  7. XM_054349933.1 → XP_054205908.1  alpha-L-iduronidase isoform X7

    UniProtKB/TrEMBL
    A8K701
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P35475.2 GenPept UniProtKB/Swiss-Prot:P35475

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