UniProtKB - P35475 (IDUA_HUMAN)
Protein
Alpha-L-iduronidase
Gene
IDUA
Organism
Homo sapiens (Human)
Status
Functioni
Catalytic activityi
- Hydrolysis of unsulfated alpha-L-iduronosidic linkages in dermatan sulfate.2 Publications EC:3.2.1.76
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 91 | Substrate | 1 | |
Binding sitei | 181 | Substrate | 1 | |
Active sitei | 182 | Proton donorPROSITE-ProRule annotation1 Publication | 1 | |
Binding sitei | 264 | Substrate | 1 | |
Active sitei | 299 | Nucleophile1 Publication | 1 | |
Binding sitei | 349 | Substrate | 1 | |
Binding sitei | 363 | Substrate | 1 |
GO - Molecular functioni
- hydrolase activity, hydrolyzing O-glycosyl compounds Source: GO_Central
- L-iduronidase activity Source: UniProtKB
- signaling receptor binding Source: Ensembl
GO - Biological processi
- chondroitin sulfate catabolic process Source: Reactome
- dermatan sulfate catabolic process Source: UniProtKB
- disaccharide metabolic process Source: ProtInc
- glycosaminoglycan catabolic process Source: Reactome
- heparin catabolic process Source: MGI
Keywordsi
Molecular function | Glycosidase, Hydrolase |
Enzyme and pathway databases
BioCyci | MetaCyc:HS05096-MONOMER |
BRENDAi | 3.2.1.76, 2681 |
PathwayCommonsi | P35475 |
Reactomei | R-HSA-2024096, HS-GAG degradation R-HSA-2024101, CS/DS degradation R-HSA-2206302, MPS I - Hurler syndrome |
SABIO-RKi | P35475 |
Protein family/group databases
CAZyi | GH39, Glycoside Hydrolase Family 39 |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:IDUA |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000127415.12 |
HGNCi | HGNC:5391, IDUA |
MIMi | 252800, gene |
neXtProti | NX_P35475 |
Subcellular locationi
Lysosome
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Lysosome
- lysosomal lumen Source: Reactome
Other locations
- coated vesicle Source: Ensembl
Keywords - Cellular componenti
LysosomePathology & Biotechi
Involvement in diseasei
Mucopolysaccharidosis 1H (MPS1H)15 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_003349 | 16 – 19 | Missing in MPS1H. 1 Publication | 4 | |
Natural variantiVAR_003351 | 51 | G → D in MPS1H. 2 PublicationsCorresponds to variant dbSNP:rs794726877EnsemblClinVar. | 1 | |
Natural variantiVAR_003352 | 75 | A → T in MPS1H. 2 PublicationsCorresponds to variant dbSNP:rs758452450EnsemblClinVar. | 1 | |
Natural variantiVAR_066217 | 103 | T → P in MPS1H; uncertain pathological role. 1 Publication | 1 | |
Natural variantiVAR_020977 | 133 | M → I in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs558683362EnsemblClinVar. | 1 | |
Natural variantiVAR_020978 | 182 | E → K in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs754154200Ensembl. | 1 | |
Natural variantiVAR_020979 | 208 | G → D in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs1430681871EnsemblClinVar. | 1 | |
Natural variantiVAR_003358 | 218 | L → P in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs869025584EnsemblClinVar. | 1 | |
Natural variantiVAR_003360 | 315 | D → Y in MPS1H; loss of function; undetectable enzyme activity. 1 Publication | 1 | |
Natural variantiVAR_003361 | 327 | A → P in MPS1H; MPS1H/S. 5 PublicationsCorresponds to variant dbSNP:rs199801029EnsemblClinVar. | 1 | |
Natural variantiVAR_003363 | 349 – 350 | Missing in MPS1H. 1 Publication | 2 | |
Natural variantiVAR_003362 | 349 | D → N in MPS1H. Corresponds to variant dbSNP:rs368454909EnsemblClinVar. | 1 | |
Natural variantiVAR_020982 | 349 | D → Y in MPS1H. 1 Publication | 1 | |
Natural variantiVAR_003365 | 366 | T → P in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs121965024EnsemblClinVar. | 1 | |
Natural variantiVAR_066225 | 385 | P → R in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs1553917309EnsemblClinVar. | 1 | |
Natural variantiVAR_003368 | 388 | T → R in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs794727896EnsemblClinVar. | 1 | |
Natural variantiVAR_003369 | 396 | L → LALL in MPS1H. | 1 | |
Natural variantiVAR_003370 | 409 | G → R in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs11934801EnsemblClinVar. | 1 | |
Natural variantiVAR_003373 | 489 | R → P in MPS1H. 1 Publication | 1 | |
Natural variantiVAR_003378 | 533 | P → R in MPS1H and MPS1H/S; in 3% of the MPS1H patients; reduces catalytic activity and protein stability. 5 PublicationsCorresponds to variant dbSNP:rs121965021EnsemblClinVar. | 1 | |
Natural variantiVAR_072368 | 620 | V → F in MPS1H; loss of function; undetectable enzyme activity. 1 Publication | 1 |
Mucopolysaccharidosis 1H/S (MPS1H/S)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_020975 | 79 | A → V in MPS1H/S; reduction of activity and protein levels. 1 PublicationCorresponds to variant dbSNP:rs747981483EnsemblClinVar. | 1 | |
Natural variantiVAR_003353 | 82 | H → P in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs794727239EnsemblClinVar. | 1 | |
Natural variantiVAR_066216 | 84 | G → R in MPS1H/S. 1 Publication | 1 | |
Natural variantiVAR_066218 | 178 | E → K in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs992336192Ensembl. | 1 | |
Natural variantiVAR_066219 | 188 | F → L in MPS1H/S; associated with R-423. 1 Publication | 1 | |
Natural variantiVAR_020980 | 238 | L → Q in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs148789453EnsemblClinVar. | 1 | |
Natural variantiVAR_020981 | 260 | S → F in MPS1H/S. 1 Publication | 1 | |
Natural variantiVAR_066221 | 265 | G → R in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs369090960EnsemblClinVar. | 1 | |
Natural variantiVAR_066222 | 276 | E → K in MPS1H/S and MPS1S. 1 Publication | 1 | |
Natural variantiVAR_017436 | 346 | L → R in MPS1H/S; 0.4% of normal activity. 1 PublicationCorresponds to variant dbSNP:rs121965033EnsemblClinVar. | 1 | |
Natural variantiVAR_020984 | 363 | R → C in MPS1H/S; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs750496798EnsemblClinVar. | 1 | |
Natural variantiVAR_003366 | 380 | Q → R in MPS1H/S and MPS1S. 3 PublicationsCorresponds to variant dbSNP:rs762903007EnsemblClinVar. | 1 | |
Natural variantiVAR_066226 | 396 | L → P in MPS1H/S. 1 Publication | 1 | |
Natural variantiVAR_020985 | 423 | S → R in MPS1S and MPS1H/S; associated with L-188 in a patient with MPS1H/S; significant reduction of activity and protein levels. 2 PublicationsCorresponds to variant dbSNP:rs931627770Ensembl. | 1 | |
Natural variantiVAR_066227 | 436 | A → P in MPS1H/S. 1 Publication | 1 | |
Natural variantiVAR_003374 | 490 | L → P in MPS1H/S and MPS1S. 2 PublicationsCorresponds to variant dbSNP:rs121965027EnsemblClinVar. | 1 | |
Natural variantiVAR_003376 | 496 | P → L in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs772416503EnsemblClinVar. | 1 | |
Natural variantiVAR_066229 | 496 | P → R in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs772416503EnsemblClinVar. | 1 | |
Natural variantiVAR_003377 | 504 | M → T in MPS1H/S. 1 Publication | 1 | |
Natural variantiVAR_003378 | 533 | P → R in MPS1H and MPS1H/S; in 3% of the MPS1H patients; reduces catalytic activity and protein stability. 5 PublicationsCorresponds to variant dbSNP:rs121965021EnsemblClinVar. | 1 | |
Natural variantiVAR_066230 | 535 | L → F in MPS1H/S. 1 Publication | 1 | |
Natural variantiVAR_020986 | 602 | F → I in MPS1H/S; reduction of activity and protein levels. 1 Publication | 1 | |
Natural variantiVAR_017437 | 619 | R → G in MPS1H/S; 1.5% of normal activity. 1 PublicationCorresponds to variant dbSNP:rs121965031EnsemblClinVar. | 1 | |
Natural variantiVAR_003379 | 626 | W → R in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs1281475543Ensembl. | 1 | |
Natural variantiVAR_020987 | 628 | R → P in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs200448421Ensembl. | 1 |
Mucopolysaccharidosis 1S (MPS1S)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_072367 | 18 | L → P in MPS1S. 1 PublicationCorresponds to variant dbSNP:rs794726878EnsemblClinVar. | 1 | |
Natural variantiVAR_066215 | 76 | Y → C in MPS1S. 1 PublicationCorresponds to variant dbSNP:rs780165694EnsemblClinVar. | 1 | |
Natural variantiVAR_003354 | 89 | R → Q in MPS1S. 2 PublicationsCorresponds to variant dbSNP:rs121965029EnsemblClinVar. | 1 | |
Natural variantiVAR_003355 | 89 | R → W in MPS1S. 2 PublicationsCorresponds to variant dbSNP:rs754966840EnsemblClinVar. | 1 | |
Natural variantiVAR_066220 | 219 | G → E in MPS1S. 1 PublicationCorresponds to variant dbSNP:rs1230234600Ensembl. | 1 | |
Natural variantiVAR_066222 | 276 | E → K in MPS1H/S and MPS1S. 1 Publication | 1 | |
Natural variantiVAR_066223 | 306 | W → L in MPS1S. 1 Publication | 1 | |
Natural variantiVAR_066224 | 348 | N → K in MPS1S. 1 PublicationCorresponds to variant dbSNP:rs746766617EnsemblClinVar. | 1 | |
Natural variantiVAR_020983 | 350 | N → I in MPS1S. 1 Publication | 1 | |
Natural variantiVAR_003366 | 380 | Q → R in MPS1H/S and MPS1S. 3 PublicationsCorresponds to variant dbSNP:rs762903007EnsemblClinVar. | 1 | |
Natural variantiVAR_003367 | 383 | R → H in MPS1S; 2-3% of normal activity. 2 PublicationsCorresponds to variant dbSNP:rs754949360EnsemblClinVar. | 1 | |
Natural variantiVAR_020985 | 423 | S → R in MPS1S and MPS1H/S; associated with L-188 in a patient with MPS1H/S; significant reduction of activity and protein levels. 2 PublicationsCorresponds to variant dbSNP:rs931627770Ensembl. | 1 | |
Natural variantiVAR_003371 | 445 | Missing in MPS1S. 1 Publication | 1 | |
Natural variantiVAR_003374 | 490 | L → P in MPS1H/S and MPS1S. 2 PublicationsCorresponds to variant dbSNP:rs121965027EnsemblClinVar. | 1 | |
Natural variantiVAR_003375 | 492 | R → P in MPS1S. 2 PublicationsCorresponds to variant dbSNP:rs121965026EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, MucopolysaccharidosisOrganism-specific databases
DisGeNETi | 3425 |
GeneReviewsi | IDUA |
MalaCardsi | IDUA |
MIMi | 607014, phenotype 607015, phenotype 607016, phenotype |
OpenTargetsi | ENSG00000127415 |
Orphaneti | 93473, Hurler syndrome 93476, Hurler-Scheie syndrome 93474, Scheie syndrome |
PharmGKBi | PA29638 |
Miscellaneous databases
Pharosi | P35475, Tbio |
Chemistry databases
DrugBanki | DB09301, Chondroitin sulfate |
Polymorphism and mutation databases
BioMutai | IDUA |
DMDMi | 92090608 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 27 | Sequence analysisAdd BLAST | 27 | |
ChainiPRO_0000012200 | 28 – 653 | Alpha-L-iduronidaseAdd BLAST | 626 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 110 | N-linked (GlcNAc...) asparagine3 Publications | 1 | |
Glycosylationi | 190 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 336 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 372 | N-linked (GlcNAc...) asparagine2 Publications | 1 | |
Glycosylationi | 415 | N-linked (GlcNAc...) asparagine2 Publications | 1 | |
Glycosylationi | 451 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Disulfide bondi | 541 ↔ 577 | 2 Publications |
Post-translational modificationi
N-glycosylation at Asn-372 contributes to substrate binding and is required for full enzymatic activity.3 Publications
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
EPDi | P35475 |
jPOSTi | P35475 |
MassIVEi | P35475 |
MaxQBi | P35475 |
PaxDbi | P35475 |
PeptideAtlasi | P35475 |
PRIDEi | P35475 |
ProteomicsDBi | 3793 55068 [P35475-1] |
PTM databases
GlyConnecti | 1006, 2 N-Linked glycans (1 site) |
GlyGeni | P35475, 6 sites |
iPTMneti | P35475 |
PhosphoSitePlusi | P35475 |
Expressioni
Tissue specificityi
Ubiquitous.
Gene expression databases
Bgeei | ENSG00000127415, Expressed in right hemisphere of cerebellum and 160 other tissues |
ExpressionAtlasi | P35475, baseline and differential |
Genevisiblei | P35475, HS |
Organism-specific databases
HPAi | ENSG00000127415, Low tissue specificity |
Interactioni
Subunit structurei
Monomer.
2 PublicationsGO - Molecular functioni
- signaling receptor binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 109651, 3 interactors |
IntActi | P35475, 2 interactors |
STRINGi | 9606.ENSP00000247933 |
Miscellaneous databases
RNActi | P35475, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P35475 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 305 – 306 | Substrate binding | 2 |
Sequence similaritiesi
Belongs to the glycosyl hydrolase 39 family.Curated
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | ENOG502QRES, Eukaryota |
GeneTreei | ENSGT00390000015494 |
InParanoidi | P35475 |
OMAi | AHYTSGD |
PhylomeDBi | P35475 |
TreeFami | TF323228 |
Family and domain databases
Gene3Di | 2.60.40.10, 1 hit |
InterProi | View protein in InterPro IPR000514, Glyco_hydro_39 IPR017853, Glycoside_hydrolase_SF IPR013783, Ig-like_fold |
Pfami | View protein in Pfam PF01229, Glyco_hydro_39, 1 hit |
PRINTSi | PR00745, GLHYDRLASE39 |
SUPFAMi | SSF51445, SSF51445, 1 hit |
PROSITEi | View protein in PROSITE PS01027, GLYCOSYL_HYDROL_F39, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: P35475-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MRPLRPRAAL LALLASLLAA PPVAPAEAPH LVHVDAARAL WPLRRFWRST
60 70 80 90 100
GFCPPLPHSQ ADQYVLSWDQ QLNLAYVGAV PHRGIKQVRT HWLLELVTTR
110 120 130 140 150
GSTGRGLSYN FTHLDGYLDL LRENQLLPGF ELMGSASGHF TDFEDKQQVF
160 170 180 190 200
EWKDLVSSLA RRYIGRYGLA HVSKWNFETW NEPDHHDFDN VSMTMQGFLN
210 220 230 240 250
YYDACSEGLR AASPALRLGG PGDSFHTPPR SPLSWGLLRH CHDGTNFFTG
260 270 280 290 300
EAGVRLDYIS LHRKGARSSI SILEQEKVVA QQIRQLFPKF ADTPIYNDEA
310 320 330 340 350
DPLVGWSLPQ PWRADVTYAA MVVKVIAQHQ NLLLANTTSA FPYALLSNDN
360 370 380 390 400
AFLSYHPHPF AQRTLTARFQ VNNTRPPHVQ LLRKPVLTAM GLLALLDEEQ
410 420 430 440 450
LWAEVSQAGT VLDSNHTVGV LASAHRPQGP ADAWRAAVLI YASDDTRAHP
460 470 480 490 500
NRSVAVTLRL RGVPPGPGLV YVTRYLDNGL CSPDGEWRRL GRPVFPTAEQ
510 520 530 540 550
FRRMRAAEDP VAAAPRPLPA GGRLTLRPAL RLPSLLLVHV CARPEKPPGQ
560 570 580 590 600
VTRLRALPLT QGQLVLVWSD EHVGSKCLWT YEIQFSQDGK AYTPVSRKPS
610 620 630 640 650
TFNLFVFSPD TGAVSGSYRV RALDYWARPG PFSDPVPYLE VPVPRGPPSP
GNP
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketD6R9D5 | D6R9D5_HUMAN | Alpha-L-iduronidase | IDUA | 224 | Annotation score: | ||
H0Y9R9 | H0Y9R9_HUMAN | Alpha-L-iduronidase | IDUA | 195 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 622 | A → T in AAA51698 (PubMed:1505961).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_003349 | 16 – 19 | Missing in MPS1H. 1 Publication | 4 | |
Natural variantiVAR_072367 | 18 | L → P in MPS1S. 1 PublicationCorresponds to variant dbSNP:rs794726878EnsemblClinVar. | 1 | |
Natural variantiVAR_003350 | 33 | H → Q5 PublicationsCorresponds to variant dbSNP:rs10794537EnsemblClinVar. | 1 | |
Natural variantiVAR_003351 | 51 | G → D in MPS1H. 2 PublicationsCorresponds to variant dbSNP:rs794726877EnsemblClinVar. | 1 | |
Natural variantiVAR_003352 | 75 | A → T in MPS1H. 2 PublicationsCorresponds to variant dbSNP:rs758452450EnsemblClinVar. | 1 | |
Natural variantiVAR_066215 | 76 | Y → C in MPS1S. 1 PublicationCorresponds to variant dbSNP:rs780165694EnsemblClinVar. | 1 | |
Natural variantiVAR_020975 | 79 | A → V in MPS1H/S; reduction of activity and protein levels. 1 PublicationCorresponds to variant dbSNP:rs747981483EnsemblClinVar. | 1 | |
Natural variantiVAR_003353 | 82 | H → P in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs794727239EnsemblClinVar. | 1 | |
Natural variantiVAR_020976 | 82 | H → Q Reduction of protein levels. 1 PublicationCorresponds to variant dbSNP:rs148775298EnsemblClinVar. | 1 | |
Natural variantiVAR_066216 | 84 | G → R in MPS1H/S. 1 Publication | 1 | |
Natural variantiVAR_003354 | 89 | R → Q in MPS1S. 2 PublicationsCorresponds to variant dbSNP:rs121965029EnsemblClinVar. | 1 | |
Natural variantiVAR_003355 | 89 | R → W in MPS1S. 2 PublicationsCorresponds to variant dbSNP:rs754966840EnsemblClinVar. | 1 | |
Natural variantiVAR_066217 | 103 | T → P in MPS1H; uncertain pathological role. 1 Publication | 1 | |
Natural variantiVAR_003356 | 105 | R → Q3 PublicationsCorresponds to variant dbSNP:rs3755955EnsemblClinVar. | 1 | |
Natural variantiVAR_003357 | 116 | G → R. Corresponds to variant dbSNP:rs148946496EnsemblClinVar. | 1 | |
Natural variantiVAR_020977 | 133 | M → I in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs558683362EnsemblClinVar. | 1 | |
Natural variantiVAR_066218 | 178 | E → K in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs992336192Ensembl. | 1 | |
Natural variantiVAR_020978 | 182 | E → K in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs754154200Ensembl. | 1 | |
Natural variantiVAR_066219 | 188 | F → L in MPS1H/S; associated with R-423. 1 Publication | 1 | |
Natural variantiVAR_020979 | 208 | G → D in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs1430681871EnsemblClinVar. | 1 | |
Natural variantiVAR_003358 | 218 | L → P in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs869025584EnsemblClinVar. | 1 | |
Natural variantiVAR_066220 | 219 | G → E in MPS1S. 1 PublicationCorresponds to variant dbSNP:rs1230234600Ensembl. | 1 | |
Natural variantiVAR_020980 | 238 | L → Q in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs148789453EnsemblClinVar. | 1 | |
Natural variantiVAR_020981 | 260 | S → F in MPS1H/S. 1 Publication | 1 | |
Natural variantiVAR_066221 | 265 | G → R in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs369090960EnsemblClinVar. | 1 | |
Natural variantiVAR_066222 | 276 | E → K in MPS1H/S and MPS1S. 1 Publication | 1 | |
Natural variantiVAR_003359 | 279 | V → A. | 1 | |
Natural variantiVAR_017435 | 300 | A → T in IDUA pseudodeficiency. 1 PublicationCorresponds to variant dbSNP:rs121965030EnsemblClinVar. | 1 | |
Natural variantiVAR_066223 | 306 | W → L in MPS1S. 1 Publication | 1 | |
Natural variantiVAR_003360 | 315 | D → Y in MPS1H; loss of function; undetectable enzyme activity. 1 Publication | 1 | |
Natural variantiVAR_003361 | 327 | A → P in MPS1H; MPS1H/S. 5 PublicationsCorresponds to variant dbSNP:rs199801029EnsemblClinVar. | 1 | |
Natural variantiVAR_017436 | 346 | L → R in MPS1H/S; 0.4% of normal activity. 1 PublicationCorresponds to variant dbSNP:rs121965033EnsemblClinVar. | 1 | |
Natural variantiVAR_066224 | 348 | N → K in MPS1S. 1 PublicationCorresponds to variant dbSNP:rs746766617EnsemblClinVar. | 1 | |
Natural variantiVAR_003363 | 349 – 350 | Missing in MPS1H. 1 Publication | 2 | |
Natural variantiVAR_003362 | 349 | D → N in MPS1H. Corresponds to variant dbSNP:rs368454909EnsemblClinVar. | 1 | |
Natural variantiVAR_020982 | 349 | D → Y in MPS1H. 1 Publication | 1 | |
Natural variantiVAR_020983 | 350 | N → I in MPS1S. 1 Publication | 1 | |
Natural variantiVAR_003364 | 361 | A → T4 PublicationsCorresponds to variant dbSNP:rs6831280EnsemblClinVar. | 1 | |
Natural variantiVAR_020984 | 363 | R → C in MPS1H/S; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs750496798EnsemblClinVar. | 1 | |
Natural variantiVAR_003365 | 366 | T → P in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs121965024EnsemblClinVar. | 1 | |
Natural variantiVAR_003366 | 380 | Q → R in MPS1H/S and MPS1S. 3 PublicationsCorresponds to variant dbSNP:rs762903007EnsemblClinVar. | 1 | |
Natural variantiVAR_003367 | 383 | R → H in MPS1S; 2-3% of normal activity. 2 PublicationsCorresponds to variant dbSNP:rs754949360EnsemblClinVar. | 1 | |
Natural variantiVAR_066225 | 385 | P → R in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs1553917309EnsemblClinVar. | 1 | |
Natural variantiVAR_003368 | 388 | T → R in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs794727896EnsemblClinVar. | 1 | |
Natural variantiVAR_003369 | 396 | L → LALL in MPS1H. | 1 | |
Natural variantiVAR_066226 | 396 | L → P in MPS1H/S. 1 Publication | 1 | |
Natural variantiVAR_003370 | 409 | G → R in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs11934801EnsemblClinVar. | 1 | |
Natural variantiVAR_020985 | 423 | S → R in MPS1S and MPS1H/S; associated with L-188 in a patient with MPS1H/S; significant reduction of activity and protein levels. 2 PublicationsCorresponds to variant dbSNP:rs931627770Ensembl. | 1 | |
Natural variantiVAR_066227 | 436 | A → P in MPS1H/S. 1 Publication | 1 | |
Natural variantiVAR_003371 | 445 | Missing in MPS1S. 1 Publication | 1 | |
Natural variantiVAR_066228 | 449 | H → N1 PublicationCorresponds to variant dbSNP:rs532731688EnsemblClinVar. | 1 | |
Natural variantiVAR_003372 | 454 | V → I3 PublicationsCorresponds to variant dbSNP:rs73066479EnsemblClinVar. | 1 | |
Natural variantiVAR_003373 | 489 | R → P in MPS1H. 1 Publication | 1 | |
Natural variantiVAR_003374 | 490 | L → P in MPS1H/S and MPS1S. 2 PublicationsCorresponds to variant dbSNP:rs121965027EnsemblClinVar. | 1 | |
Natural variantiVAR_003375 | 492 | R → P in MPS1S. 2 PublicationsCorresponds to variant dbSNP:rs121965026EnsemblClinVar. | 1 | |
Natural variantiVAR_003376 | 496 | P → L in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs772416503EnsemblClinVar. | 1 | |
Natural variantiVAR_066229 | 496 | P → R in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs772416503EnsemblClinVar. | 1 | |
Natural variantiVAR_003377 | 504 | M → T in MPS1H/S. 1 Publication | 1 | |
Natural variantiVAR_003378 | 533 | P → R in MPS1H and MPS1H/S; in 3% of the MPS1H patients; reduces catalytic activity and protein stability. 5 PublicationsCorresponds to variant dbSNP:rs121965021EnsemblClinVar. | 1 | |
Natural variantiVAR_066230 | 535 | L → F in MPS1H/S. 1 Publication | 1 | |
Natural variantiVAR_066231 | 591 | A → T1 PublicationCorresponds to variant dbSNP:rs398123257EnsemblClinVar. | 1 | |
Natural variantiVAR_020986 | 602 | F → I in MPS1H/S; reduction of activity and protein levels. 1 Publication | 1 | |
Natural variantiVAR_017437 | 619 | R → G in MPS1H/S; 1.5% of normal activity. 1 PublicationCorresponds to variant dbSNP:rs121965031EnsemblClinVar. | 1 | |
Natural variantiVAR_072368 | 620 | V → F in MPS1H; loss of function; undetectable enzyme activity. 1 Publication | 1 | |
Natural variantiVAR_003379 | 626 | W → R in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs1281475543Ensembl. | 1 | |
Natural variantiVAR_020987 | 628 | R → P in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs200448421Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_057029 | 53 – 100 | CPPLP…LVTTR → W in isoform 2. 1 PublicationAdd BLAST | 48 | |
Alternative sequenceiVSP_057030 | 265 – 324 | GARSS…AMVVK → VRPAPPSAPVFCALSRCAPG RADPGGAEAAPPAGCAQLHL HPGAGEGRRAADPAALPQVR GHPHLQRRGGPAGGLVPATA VEGGRDLRGHGGEGGPAQRP ARPPATFLPRRDRRAVAAPP GPSCPGHPQ in isoform 2. 1 PublicationAdd BLAST | 60 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M74715 mRNA Translation: AAA81589.1 M95740, M95739 Genomic DNA Translation: AAA51698.1 AK125223 mRNA Translation: BAG54168.1 AC019103 Genomic DNA No translation available. |
CCDSi | CCDS3343.1 [P35475-1] |
PIRi | S53645 |
RefSeqi | NP_000194.2, NM_000203.4 [P35475-1] |
Genome annotation databases
Ensembli | ENST00000247933; ENSP00000247933; ENSG00000127415 [P35475-1] ENST00000514224; ENSP00000425081; ENSG00000127415 [P35475-1] |
GeneIDi | 3425 |
KEGGi | hsa:3425 |
UCSCi | uc003gby.5, human [P35475-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M74715 mRNA Translation: AAA81589.1 M95740, M95739 Genomic DNA Translation: AAA51698.1 AK125223 mRNA Translation: BAG54168.1 AC019103 Genomic DNA No translation available. |
CCDSi | CCDS3343.1 [P35475-1] |
PIRi | S53645 |
RefSeqi | NP_000194.2, NM_000203.4 [P35475-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1Y24 | model | - | A | 36-522 | [»] | |
3W81 | X-ray | 2.30 | A/B | 27-653 | [»] | |
3W82 | X-ray | 2.76 | A/B | 27-653 | [»] | |
4KGJ | X-ray | 2.99 | A/B | 27-653 | [»] | |
4KGL | X-ray | 2.70 | A/B | 27-653 | [»] | |
4KH2 | X-ray | 2.36 | A/B | 27-653 | [»] | |
4MJ2 | X-ray | 2.10 | A/B | 1-653 | [»] | |
4MJ4 | X-ray | 2.17 | A | 1-653 | [»] | |
4OBR | X-ray | 2.46 | A/B | 27-653 | [»] | |
4OBS | X-ray | 2.26 | A | 27-653 | [»] | |
6I6R | X-ray | 2.02 | A/B | 27-653 | [»] | |
6I6X | X-ray | 2.39 | A/B | 27-653 | [»] | |
SMRi | P35475 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 109651, 3 interactors |
IntActi | P35475, 2 interactors |
STRINGi | 9606.ENSP00000247933 |
Chemistry databases
DrugBanki | DB09301, Chondroitin sulfate |
Protein family/group databases
CAZyi | GH39, Glycoside Hydrolase Family 39 |
PTM databases
GlyConnecti | 1006, 2 N-Linked glycans (1 site) |
GlyGeni | P35475, 6 sites |
iPTMneti | P35475 |
PhosphoSitePlusi | P35475 |
Polymorphism and mutation databases
BioMutai | IDUA |
DMDMi | 92090608 |
Proteomic databases
EPDi | P35475 |
jPOSTi | P35475 |
MassIVEi | P35475 |
MaxQBi | P35475 |
PaxDbi | P35475 |
PeptideAtlasi | P35475 |
PRIDEi | P35475 |
ProteomicsDBi | 3793 55068 [P35475-1] |
Protocols and materials databases
Antibodypediai | 43016, 207 antibodies |
Genome annotation databases
Ensembli | ENST00000247933; ENSP00000247933; ENSG00000127415 [P35475-1] ENST00000514224; ENSP00000425081; ENSG00000127415 [P35475-1] |
GeneIDi | 3425 |
KEGGi | hsa:3425 |
UCSCi | uc003gby.5, human [P35475-1] |
Organism-specific databases
CTDi | 3425 |
DisGeNETi | 3425 |
EuPathDBi | HostDB:ENSG00000127415.12 |
GeneCardsi | IDUA |
GeneReviewsi | IDUA |
HGNCi | HGNC:5391, IDUA |
HPAi | ENSG00000127415, Low tissue specificity |
MalaCardsi | IDUA |
MIMi | 252800, gene 607014, phenotype 607015, phenotype 607016, phenotype |
neXtProti | NX_P35475 |
OpenTargetsi | ENSG00000127415 |
Orphaneti | 93473, Hurler syndrome 93476, Hurler-Scheie syndrome 93474, Scheie syndrome |
PharmGKBi | PA29638 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QRES, Eukaryota |
GeneTreei | ENSGT00390000015494 |
InParanoidi | P35475 |
OMAi | AHYTSGD |
PhylomeDBi | P35475 |
TreeFami | TF323228 |
Enzyme and pathway databases
BioCyci | MetaCyc:HS05096-MONOMER |
BRENDAi | 3.2.1.76, 2681 |
PathwayCommonsi | P35475 |
Reactomei | R-HSA-2024096, HS-GAG degradation R-HSA-2024101, CS/DS degradation R-HSA-2206302, MPS I - Hurler syndrome |
SABIO-RKi | P35475 |
Miscellaneous databases
BioGRID-ORCSi | 3425, 3 hits in 841 CRISPR screens |
ChiTaRSi | IDUA, human |
GenomeRNAii | 3425 |
Pharosi | P35475, Tbio |
PROi | PR:P35475 |
RNActi | P35475, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000127415, Expressed in right hemisphere of cerebellum and 160 other tissues |
ExpressionAtlasi | P35475, baseline and differential |
Genevisiblei | P35475, HS |
Family and domain databases
Gene3Di | 2.60.40.10, 1 hit |
InterProi | View protein in InterPro IPR000514, Glyco_hydro_39 IPR017853, Glycoside_hydrolase_SF IPR013783, Ig-like_fold |
Pfami | View protein in Pfam PF01229, Glyco_hydro_39, 1 hit |
PRINTSi | PR00745, GLHYDRLASE39 |
SUPFAMi | SSF51445, SSF51445, 1 hit |
PROSITEi | View protein in PROSITE PS01027, GLYCOSYL_HYDROL_F39, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | IDUA_HUMAN | |
Accessioni | P35475Primary (citable) accession number: P35475 Secondary accession number(s): B3KWK6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 1994 |
Last sequence update: | April 4, 2006 | |
Last modified: | December 2, 2020 | |
This is version 192 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Glycosyl hydrolases
Classification of glycosyl hydrolase families and list of entries