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

Gene ID: 3425, updated on 13-Feb-2019

Summary

Official Symbol
IDUAprovided by HGNC
Official Full Name
iduronidase alpha-L-provided by HGNC
Primary source
HGNC:HGNC:5391
See related
Ensembl:ENSG00000127415 MIM:252800
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
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

Genomic context

See IDUA in Genome Data Viewer
Location:
4p16.3
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (986997..1004557)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (980785..998317)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene cyclin G associated kinase Neighboring gene transmembrane protein 175 Neighboring gene diacylglycerol kinase theta Neighboring gene solute carrier family 26 member 1 Neighboring gene fibroblast growth factor receptor like 1 Neighboring gene uncharacterized LOC105374343

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
alpha-L-iduronidase
NP_000194.2
XP_011511763.1
XP_016863652.1
XP_024309797.1

NCBI Reference Sequences (RefSeq)

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)

mRNA and Protein(s)

  1. NM_000203.5NP_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
    P35475
    Related
    ENSP00000247933.4, ENST00000247933.8
    Conserved Domains (2) summary
    cl21522
    Location:544636
    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:30543
    Glyco_hydro_1; Glycosyl hydrolase family 1
  2. NM_001363576.1NP_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
    Consensus CDS
    CCDS87198.1
    Conserved Domains (1) summary
    cl23725
    Location:1411
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    986997..1004557
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008163.1XP_016863652.1  alpha-L-iduronidase isoform X3

  2. XM_011513461.2XP_011511763.1  alpha-L-iduronidase isoform X1

    Conserved Domains (2) summary
    cl21522
    Location:475567
    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:31474
    Glyco_hydro_1; Glycosyl hydrolase family 1
  3. XM_024454029.1XP_024309797.1  alpha-L-iduronidase isoform X2

    Related
    ENSP00000425081.1, ENST00000514224.1
    Conserved Domains (1) summary
    cl23725
    Location:1411
    Glyco_hydro_1; Glycosyl hydrolase family 1

RNA

  1. XR_924947.1 RNA Sequence

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