Details for: IDUA

Gene ID: 3425

Symbol: IDUA

Ensembl ID: ENSG00000127415

Description: alpha-L-iduronidase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.26
    Marker Score: 2958
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71786
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48011
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30405
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 490.5
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 444
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2726
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.89
    Marker Score: 5081
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5269
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 312
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1254
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.74
    Marker Score: 321
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.74
    Marker Score: 381
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.73
    Marker Score: 559.5
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.7
    Marker Score: 282
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.68
    Marker Score: 10663
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 620
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.67
    Marker Score: 2803
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.65
    Marker Score: 2807
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.64
    Marker Score: 1292
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.55
    Marker Score: 543
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 431
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.54
    Marker Score: 428.5
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.53
    Marker Score: 166
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.52
    Marker Score: 332
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.52
    Marker Score: 981
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.52
    Marker Score: 474
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.5
    Marker Score: 160
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.48
    Marker Score: 199
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 0.44
    Marker Score: 341
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.44
    Marker Score: 623
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.44
    Marker Score: 2637
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.44
    Marker Score: 263
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.44
    Marker Score: 995
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.43
    Marker Score: 241
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.43
    Marker Score: 632
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.41
    Marker Score: 166
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.41
    Marker Score: 2678
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.41
    Marker Score: 172
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.4
    Marker Score: 281
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.4
    Marker Score: 394
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.39
    Marker Score: 136
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.38
    Marker Score: 3975
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.38
    Marker Score: 412
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.37
    Marker Score: 942
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.37
    Marker Score: 785
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.37
    Marker Score: 444.5
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.36
    Marker Score: 550
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.36
    Marker Score: 235
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.35
    Marker Score: 301
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.35
    Marker Score: 135
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.35
    Marker Score: 8868
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.35
    Marker Score: 3891
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.34
    Marker Score: 91
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.34
    Marker Score: 11506
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.33
    Marker Score: 212
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.33
    Marker Score: 135.5
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.33
    Marker Score: 82
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.33
    Marker Score: 155
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.33
    Marker Score: 85
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.33
    Marker Score: 347
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.33
    Marker Score: 94
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.32
    Marker Score: 275
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.32
    Marker Score: 2366
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.32
    Marker Score: 827
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.31
    Marker Score: 1902
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.31
    Marker Score: 120
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.31
    Marker Score: 2680
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.31
    Marker Score: 88
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.31
    Marker Score: 153
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 0.31
    Marker Score: 129
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.31
    Marker Score: 341
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.31
    Marker Score: 18937
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.31
    Marker Score: 327
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.31
    Marker Score: 296
  • Cell Name: naive regulatory T cell (CL0002677)
    Fold Change: 0.31
    Marker Score: 93
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.31
    Marker Score: 310
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.31
    Marker Score: 317
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.31
    Marker Score: 168
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.3
    Marker Score: 1240
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.3
    Marker Score: 393
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.3
    Marker Score: 2892
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.3
    Marker Score: 1069
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.3
    Marker Score: 804
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.3
    Marker Score: 145
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.3
    Marker Score: 676
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.3
    Marker Score: 111
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.29
    Marker Score: 316
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.29
    Marker Score: 253
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.29
    Marker Score: 468
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.29
    Marker Score: 131
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 0.29
    Marker Score: 71
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.29
    Marker Score: 352
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.28
    Marker Score: 284.5
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 0.28
    Marker Score: 71
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.28
    Marker Score: 465
  • Cell Name: activated CD8-positive, alpha-beta T cell, human (CL0001049)
    Fold Change: 0.28
    Marker Score: 63
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.28
    Marker Score: 345

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Other Information

## Summary IDUA is an enzyme that catalyzes the hydrolysis of iduronates, which are sugar molecules that are involved in the metabolism of glycosaminoglycans, a large family of proteins that are essential for the structure and function of tissues and organs. IDUA is expressed in a variety of cell types, including epithelial cells, neurons, and stem cells. ## Key characteristics * IDUA is a glycoprotein with a molecular weight of approximately 120 kDa. * It is found in the cytoplasm of cells. * IDUA is a transmembrane protein that is localized to the cell surface. * It is a member of the iduronate lyase family of enzymes. ## Pathways and functions IDUA is involved in a number of important pathways, including: * The chondroitin sulfate/dermatan sulfate metabolism pathway, which is responsible for the synthesis and degradation of glycosaminoglycans. * The Cs/ds degradation pathway, which is responsible for the degradation of damaged or old glycosaminoglycans. * The dermatan sulfate catabolic process, which is responsible for the degradation of dermatan sulfate, a glycoprotein that is involved in the structure of skin and hair. * The disaccharide metabolic process, which is responsible for the degradation of disaccharides, which are molecules that are composed of two monosaccharides joined together by a disaccharide bond. * The disease, diseases of carbohydrate metabolism, and glycosaminoglycan catabolic process, which are all involved in the metabolism of glycosaminoglycans. * The glycosaminoglycan catabolic process, which is responsible for the degradation of glycosaminoglycans. * The heparin catabolic process, which is responsible for the degradation of heparin, a protein that is involved in blood clotting. ## Clinical significance IDUA is a gene that is involved in a number of human diseases, including mucopolysaccharidoses and disorders of glycosaminoglycan metabolism. Mutations in the IDUA gene have been linked to these diseases. IDUA is also a therapeutic target for these diseases, and inhibitors of IDUA have been shown to be effective in treating these disorders.

Genular Protein ID: 2574505622

Symbol: IDUA_HUMAN

Name: Alpha-L-iduronidase

UniProtKB Accession Codes:

P35475 B3KWK6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 1 CTD 1 ChEBI 15 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 2 EMBL 5 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 9 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 24 PDBsum 11 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 3 RefSeq 1 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1946389

Title: Human alpha-L-iduronidase: cDNA isolation and expression.

PubMed ID: 1946389

DOI: 10.1073/pnas.88.21.9695

PubMed ID: 1505961

Title: Structure and sequence of the human alpha-L-iduronidase gene.

PubMed ID: 1505961

DOI: 10.1016/0888-7543(92)90053-u

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 8680403

Title: Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

PubMed ID: 8680403

DOI: 10.1002/humu.1380060403

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 24036510

Title: Insights into mucopolysaccharidosis I from the structure and action of alpha-L-iduronidase.

PubMed ID: 24036510

DOI: 10.1038/nchembio.1357

PubMed ID: 23959878

Title: Human alpha-L-iduronidase uses its own N-glycan as a substrate-binding and catalytic module.

PubMed ID: 23959878

DOI: 10.1073/pnas.1306939110

PubMed ID: 8019563

Title: Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.

PubMed ID: 8019563

DOI: 10.1002/humu.1380030316

PubMed ID: 8401515

Title: Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.

PubMed ID: 8401515

DOI: 10.1093/hmg/2.8.1311

PubMed ID: 8213840

Title: Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.

PubMed ID: 8213840

PubMed ID: 8328452

Title: Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.

PubMed ID: 8328452

PubMed ID: 1301941

Title: Alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

PubMed ID: 1301941

DOI: 10.1002/humu.1380010412

PubMed ID: 7951228

Title: Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

PubMed ID: 7951228

DOI: 10.1093/hmg/3.6.861

PubMed ID: 1362562

Title: PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene.

PubMed ID: 1362562

DOI: 10.1007/bf00220095

PubMed ID: 8242073

Title: Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype.

PubMed ID: 8242073

DOI: 10.1093/hmg/2.9.1471

PubMed ID: 7550232

Title: Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).

PubMed ID: 7550232

DOI: 10.1002/humu.1380060111

PubMed ID: 7550242

Title: Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.

PubMed ID: 7550242

DOI: 10.1002/humu.1380060119

PubMed ID: 8554071

Title: Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.

PubMed ID: 8554071

PubMed ID: 10466419

Title: Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.

PubMed ID: 10466419

DOI: 10.1034/j.1399-0004.1999.560109.x

PubMed ID: 10735634

Title: Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S.

PubMed ID: 10735634

DOI: 10.1034/j.1399-0004.2000.570207.x

PubMed ID: 12559846

Title: Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

PubMed ID: 12559846

DOI: 10.1016/s1096-7192(02)00200-7

PubMed ID: 15300847

Title: Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.

PubMed ID: 15300847

DOI: 10.1002/humu.20081

PubMed ID: 19396826

Title: Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

PubMed ID: 19396826

DOI: 10.1002/ajmg.a.32812

PubMed ID: 21394825

Title: IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel alpha-L-iduronidase (IDUA) alleles.

PubMed ID: 21394825

DOI: 10.1002/humu.21479

PubMed ID: 25256405

Title: p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients.

PubMed ID: 25256405

DOI: 10.1111/cge.12507

PubMed ID: 31194252

Title: Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.

PubMed ID: 31194252

DOI: 10.1111/cge.13583

Sequence Information:

  • Length: 653
  • Mass: 72670
  • Checksum: 9D2399B22FD172BD
  • Sequence:
    • MRPLRPRAAL LALLASLLAA PPVAPAEAPH LVHVDAARAL WPLRRFWRST GFCPPLPHSQ 
ADQYVLSWDQ QLNLAYVGAV PHRGIKQVRT HWLLELVTTR GSTGRGLSYN FTHLDGYLDL 
LRENQLLPGF ELMGSASGHF TDFEDKQQVF EWKDLVSSLA RRYIGRYGLA HVSKWNFETW 
NEPDHHDFDN VSMTMQGFLN YYDACSEGLR AASPALRLGG PGDSFHTPPR SPLSWGLLRH 
CHDGTNFFTG EAGVRLDYIS LHRKGARSSI SILEQEKVVA QQIRQLFPKF ADTPIYNDEA 
DPLVGWSLPQ PWRADVTYAA MVVKVIAQHQ NLLLANTTSA FPYALLSNDN AFLSYHPHPF 
AQRTLTARFQ VNNTRPPHVQ LLRKPVLTAM GLLALLDEEQ LWAEVSQAGT VLDSNHTVGV 
LASAHRPQGP ADAWRAAVLI YASDDTRAHP NRSVAVTLRL RGVPPGPGLV YVTRYLDNGL 
CSPDGEWRRL GRPVFPTAEQ FRRMRAAEDP VAAAPRPLPA GGRLTLRPAL RLPSLLLVHV 
CARPEKPPGQ VTRLRALPLT QGQLVLVWSD EHVGSKCLWT YEIQFSQDGK AYTPVSRKPS 
TFNLFVFSPD TGAVSGSYRV RALDYWARPG PFSDPVPYLE VPVPRGPPSP GNP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.