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Protein

Alpha-L-iduronidase

Gene

IDUA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalytic activityi

Hydrolysis of unsulfated alpha-L-iduronosidic linkages in dermatan sulfate.2 Publications

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei91 – 911Substrate
Binding sitei181 – 1811Substrate
Active sitei182 – 1821Proton donorPROSITE-ProRule annotation1 Publication
Binding sitei264 – 2641Substrate
Active sitei299 – 2991Nucleophile1 Publication
Binding sitei349 – 3491Substrate
Binding sitei363 – 3631Substrate

GO - Molecular functioni

  1. L-iduronidase activity Source: UniProtKB

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. cell morphogenesis Source: Ensembl
  3. chemical homeostasis Source: Ensembl
  4. chondroitin sulfate catabolic process Source: Reactome
  5. chondroitin sulfate metabolic process Source: Reactome
  6. dermatan sulfate catabolic process Source: UniProtKB
  7. disaccharide metabolic process Source: ProtInc
  8. glycosaminoglycan catabolic process Source: Reactome
  9. glycosaminoglycan metabolic process Source: Reactome
  10. limb morphogenesis Source: Ensembl
  11. lysosome organization Source: Ensembl
  12. pathogenesis Source: Reactome
  13. skeletal system morphogenesis Source: Ensembl
  14. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Enzyme and pathway databases

BioCyciMetaCyc:HS05096-MONOMER.
BRENDAi3.2.1.76. 2681.
ReactomeiREACT_120752. HS-GAG degradation.
REACT_120888. CS/DS degradation.
REACT_147857. MPS I - Hurler syndrome.
SABIO-RKP35475.

Protein family/group databases

CAZyiGH39. Glycoside Hydrolase Family 39.

Names & Taxonomyi

Protein namesi
Recommended name:
Alpha-L-iduronidase (EC:3.2.1.76)
Gene namesi
Name:IDUA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:5391. IDUA.

Subcellular locationi

GO - Cellular componenti

  1. coated vesicle Source: Ensembl
  2. extracellular vesicular exosome Source: UniProtKB
  3. lysosomal lumen Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Mucopolysaccharidosis 1H (MPS1H)13 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.

See also OMIM:607014
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 194Missing in MPS1H. 1 Publication
VAR_003349
Natural varianti51 – 511G → D in MPS1H. 2 Publications
VAR_003351
Natural varianti75 – 751A → T in MPS1H. 2 Publications
VAR_003352
Natural varianti79 – 791A → V in MPS1H/S; reduction of activity and protein levels. 1 Publication
VAR_020975
Natural varianti82 – 821H → P in MPS1H/S. 1 Publication
VAR_003353
Natural varianti84 – 841G → R in MPS1H/S. 1 Publication
VAR_066216
Natural varianti103 – 1031T → P in MPS1H; uncertain pathological role. 1 Publication
VAR_066217
Natural varianti133 – 1331M → I in MPS1H. 1 Publication
VAR_020977
Natural varianti178 – 1781E → K in MPS1H/S. 1 Publication
VAR_066218
Natural varianti182 – 1821E → K in MPS1H. 1 Publication
VAR_020978
Natural varianti188 – 1881F → L in MPS1H/S; associated with R-423. 1 Publication
VAR_066219
Natural varianti208 – 2081G → D in MPS1H. 1 Publication
VAR_020979
Natural varianti218 – 2181L → P in MPS1H. 1 Publication
VAR_003358
Natural varianti238 – 2381L → Q in MPS1H/S. 1 Publication
VAR_020980
Natural varianti260 – 2601S → F in MPS1H/S. 1 Publication
VAR_020981
Natural varianti265 – 2651G → R in MPS1H/S. 1 Publication
VAR_066221
Natural varianti276 – 2761E → K in MPS1H/S and MPS1S. 1 Publication
VAR_066222
Natural varianti315 – 3151D → Y in MPS1 and MPS1H; loss of function; undetectable enzyme activity. 1 Publication
VAR_003360
Natural varianti327 – 3271A → P in MPS1H; MPS1H/S. 5 Publications
VAR_003361
Natural varianti346 – 3461L → R in MPS1H/S; 0.4% of normal activity. 1 Publication
VAR_017436
Natural varianti349 – 3502Missing in MPS1H. 1 Publication
VAR_003363
Natural varianti349 – 3491D → N in MPS1H.
VAR_003362
Natural varianti349 – 3491D → Y in MPS1H. 1 Publication
VAR_020982
Natural varianti363 – 3631R → C in MPS1H/S; loss of activity. 1 Publication
VAR_020984
Natural varianti366 – 3661T → P in MPS1H. 1 Publication
VAR_003365
Natural varianti380 – 3801Q → R in MPS1H/S and MPS1S. 3 Publications
VAR_003366
Natural varianti385 – 3851P → R in MPS1H. 1 Publication
VAR_066225
Natural varianti388 – 3881T → R in MPS1H. 1 Publication
VAR_003368
Natural varianti396 – 3961L → LALL in MPS1H.
VAR_003369
Natural varianti409 – 4091G → R in MPS1H. 1 Publication
Corresponds to variant rs11934801 [ dbSNP | Ensembl ].
VAR_003370
Natural varianti423 – 4231S → R in MPS1S and MPS1H/S; associated with L-188 in a patient with MPS1H/S; significant reduction of activity and protein levels. 2 Publications
VAR_020985
Natural varianti436 – 4361A → P in MPS1H/S. 1 Publication
VAR_066227
Natural varianti489 – 4891R → P in MPS1H. 1 Publication
Corresponds to variant rs4690226 [ dbSNP | Ensembl ].
VAR_003373
Natural varianti490 – 4901L → P in MPS1H/S and MPS1S. 2 Publications
VAR_003374
Natural varianti496 – 4961P → L in MPS1H/S. 1 Publication
VAR_003376
Natural varianti496 – 4961P → R in MPS1H/S. 1 Publication
VAR_066229
Natural varianti504 – 5041M → T in MPS1H/S. 1 Publication
VAR_003377
Natural varianti533 – 5331P → R in MPS1H and MPS1H/S; in 3% of the MPS1H patients; reduces catalytic activity and protein stability. 5 Publications
VAR_003378
Natural varianti535 – 5351L → F in MPS1H/S. 1 Publication
VAR_066230
Natural varianti602 – 6021F → I in MPS1H/S; reduction of activity and protein levels. 1 Publication
VAR_020986
Natural varianti619 – 6191R → G in MPS1H/S; 1.5% of normal activity. 1 Publication
VAR_017437
Natural varianti620 – 6201V → F in MPS1H; loss of function; undetectable enzyme activity. 1 Publication
VAR_072368
Natural varianti626 – 6261W → R in MPS1H/S. 1 Publication
VAR_003379
Natural varianti628 – 6281R → P in MPS1H/S. 1 Publication
VAR_020987
Mucopolysaccharidosis 1H/S (MPS1H/S)

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.

See also OMIM:607015
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti79 – 791A → V in MPS1H/S; reduction of activity and protein levels. 1 Publication
VAR_020975
Natural varianti82 – 821H → P in MPS1H/S. 1 Publication
VAR_003353
Natural varianti84 – 841G → R in MPS1H/S. 1 Publication
VAR_066216
Natural varianti178 – 1781E → K in MPS1H/S. 1 Publication
VAR_066218
Natural varianti188 – 1881F → L in MPS1H/S; associated with R-423. 1 Publication
VAR_066219
Natural varianti238 – 2381L → Q in MPS1H/S. 1 Publication
VAR_020980
Natural varianti260 – 2601S → F in MPS1H/S. 1 Publication
VAR_020981
Natural varianti265 – 2651G → R in MPS1H/S. 1 Publication
VAR_066221
Natural varianti276 – 2761E → K in MPS1H/S and MPS1S. 1 Publication
VAR_066222
Natural varianti327 – 3271A → P in MPS1H; MPS1H/S. 5 Publications
VAR_003361
Natural varianti346 – 3461L → R in MPS1H/S; 0.4% of normal activity. 1 Publication
VAR_017436
Natural varianti363 – 3631R → C in MPS1H/S; loss of activity. 1 Publication
VAR_020984
Natural varianti380 – 3801Q → R in MPS1H/S and MPS1S. 3 Publications
VAR_003366
Natural varianti423 – 4231S → R in MPS1S and MPS1H/S; associated with L-188 in a patient with MPS1H/S; significant reduction of activity and protein levels. 2 Publications
VAR_020985
Natural varianti436 – 4361A → P in MPS1H/S. 1 Publication
VAR_066227
Natural varianti490 – 4901L → P in MPS1H/S and MPS1S. 2 Publications
VAR_003374
Natural varianti496 – 4961P → L in MPS1H/S. 1 Publication
VAR_003376
Natural varianti496 – 4961P → R in MPS1H/S. 1 Publication
VAR_066229
Natural varianti504 – 5041M → T in MPS1H/S. 1 Publication
VAR_003377
Natural varianti533 – 5331P → R in MPS1H and MPS1H/S; in 3% of the MPS1H patients; reduces catalytic activity and protein stability. 5 Publications
VAR_003378
Natural varianti535 – 5351L → F in MPS1H/S. 1 Publication
VAR_066230
Natural varianti602 – 6021F → I in MPS1H/S; reduction of activity and protein levels. 1 Publication
VAR_020986
Natural varianti619 – 6191R → G in MPS1H/S; 1.5% of normal activity. 1 Publication
VAR_017437
Natural varianti626 – 6261W → R in MPS1H/S. 1 Publication
VAR_003379
Natural varianti628 – 6281R → P in MPS1H/S. 1 Publication
VAR_020987
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.

See also OMIM:607016
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti18 – 181L → P in MPS1S. 1 Publication
VAR_072367
Natural varianti76 – 761Y → C in MPS1S. 1 Publication
VAR_066215
Natural varianti89 – 891R → Q in MPS1S; in Japanese 21% of alleles. 2 Publications
VAR_003354
Natural varianti89 – 891R → W in MPS1S. 2 Publications
VAR_003355
Natural varianti219 – 2191G → E in MPS1S. 1 Publication
VAR_066220
Natural varianti276 – 2761E → K in MPS1H/S and MPS1S. 1 Publication
VAR_066222
Natural varianti306 – 3061W → L in MPS1S. 1 Publication
VAR_066223
Natural varianti348 – 3481N → K in MPS1S. 1 Publication
VAR_066224
Natural varianti350 – 3501N → I in MPS1S. 1 Publication
VAR_020983
Natural varianti380 – 3801Q → R in MPS1H/S and MPS1S. 3 Publications
VAR_003366
Natural varianti383 – 3831R → H in MPS1S; 2-3% of normal activity. 2 Publications
VAR_003367
Natural varianti423 – 4231S → R in MPS1S and MPS1H/S; associated with L-188 in a patient with MPS1H/S; significant reduction of activity and protein levels. 2 Publications
VAR_020985
Natural varianti445 – 4451Missing in MPS1S. 1 Publication
VAR_003371
Natural varianti490 – 4901L → P in MPS1H/S and MPS1S. 2 Publications
VAR_003374
Natural varianti492 – 4921R → P in MPS1S. 2 Publications
VAR_003375

Keywords - Diseasei

Disease mutation, Mucopolysaccharidosis

Organism-specific databases

MIMi607014. phenotype.
607015. phenotype.
607016. phenotype.
Orphaneti93473. Hurler syndrome.
93476. Hurler-Scheie syndrome.
93474. Scheie syndrome.
PharmGKBiPA29638.

Polymorphism and mutation databases

BioMutaiIDUA.
DMDMi92090608.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2727Sequence AnalysisAdd
BLAST
Chaini28 – 653626Alpha-L-iduronidasePRO_0000012200Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi110 – 1101N-linked (GlcNAc...)3 Publications
Glycosylationi190 – 1901N-linked (GlcNAc...)Sequence Analysis
Glycosylationi336 – 3361N-linked (GlcNAc...)Sequence Analysis
Glycosylationi372 – 3721N-linked (GlcNAc...)2 Publications
Glycosylationi415 – 4151N-linked (GlcNAc...)2 Publications
Glycosylationi451 – 4511N-linked (GlcNAc...)1 Publication
Disulfide bondi541 ↔ 5772 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, Glycoprotein

Proteomic databases

MaxQBiP35475.
PaxDbiP35475.
PRIDEiP35475.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiP35475.
CleanExiHS_IDUA.
ExpressionAtlasiP35475. baseline and differential.
GenevestigatoriP35475.

Organism-specific databases

HPAiCAB025901.

Interactioni

Subunit structurei

Monomer.2 Publications

Protein-protein interaction databases

IntActiP35475. 1 interaction.
MINTiMINT-1397491.
STRINGi9606.ENSP00000247933.

Structurei

Secondary structure

1
653
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi30 – 4213Combined sources
Beta strandi49 – 524Combined sources
Helixi58 – 603Combined sources
Helixi64 – 663Combined sources
Helixi68 – 7811Combined sources
Helixi81 – 833Combined sources
Beta strandi87 – 904Combined sources
Helixi93 – 953Combined sources
Beta strandi98 – 1003Combined sources
Turni103 – 1053Combined sources
Beta strandi108 – 1103Combined sources
Helixi112 – 12312Combined sources
Beta strandi127 – 1315Combined sources
Turni136 – 1394Combined sources
Beta strandi142 – 1443Combined sources
Helixi146 – 16722Combined sources
Helixi169 – 1724Combined sources
Beta strandi176 – 1783Combined sources
Helixi183 – 1853Combined sources
Helixi195 – 21218Combined sources
Beta strandi217 – 2237Combined sources
Helixi232 – 24312Combined sources
Turni247 – 2493Combined sources
Beta strandi257 – 2615Combined sources
Helixi269 – 28618Combined sources
Helixi288 – 2903Combined sources
Beta strandi295 – 2984Combined sources
Beta strandi302 – 3043Combined sources
Beta strandi306 – 3083Combined sources
Helixi311 – 3144Combined sources
Helixi316 – 33217Combined sources
Beta strandi334 – 3363Combined sources
Beta strandi343 – 3464Combined sources
Turni359 – 3613Combined sources
Beta strandi362 – 37110Combined sources
Beta strandi374 – 3763Combined sources
Beta strandi378 – 3836Combined sources
Helixi385 – 3939Combined sources
Beta strandi398 – 40710Combined sources
Beta strandi410 – 4123Combined sources
Beta strandi414 – 42512Combined sources
Beta strandi429 – 4313Combined sources
Beta strandi435 – 4428Combined sources
Beta strandi449 – 46113Combined sources
Beta strandi470 – 4778Combined sources
Turni478 – 4803Combined sources
Helixi483 – 4897Combined sources
Helixi498 – 5058Combined sources
Beta strandi511 – 5177Combined sources
Turni520 – 5223Combined sources
Beta strandi524 – 5263Combined sources
Beta strandi529 – 54113Combined sources
Beta strandi552 – 5609Combined sources
Beta strandi563 – 5697Combined sources
Turni571 – 5733Combined sources
Beta strandi578 – 5869Combined sources
Beta strandi602 – 6076Combined sources
Beta strandi616 – 6249Combined sources
Beta strandi636 – 6383Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1Y24model-A36-522[»]
3W81X-ray2.30A/B27-653[»]
3W82X-ray2.76A/B27-653[»]
4KGJX-ray2.99A/B27-653[»]
4KGLX-ray2.70A/B27-653[»]
4KH2X-ray2.36A/B27-653[»]
4MJ2X-ray2.10A/B1-653[»]
4MJ4X-ray2.17A1-653[»]
4OBRX-ray2.46A/B27-653[»]
4OBSX-ray2.26A27-653[»]
ProteinModelPortaliP35475.
SMRiP35475. Positions 27-642.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni305 – 3062Substrate binding

Sequence similaritiesi

Belongs to the glycosyl hydrolase 39 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiCOG3664.
GeneTreeiENSGT00390000015494.
HOGENOMiHOG000007042.
HOVERGENiHBG006121.
InParanoidiP35475.
KOiK01217.
OMAiPRSPLCW.
OrthoDBiEOG70088F.
PhylomeDBiP35475.
TreeFamiTF323228.

Family and domain databases

Gene3Di3.20.20.80. 1 hit.
InterProiIPR000514. Glyco_hydro_39.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PfamiPF01229. Glyco_hydro_39. 1 hit.
[Graphical view]
PRINTSiPR00745. GLHYDRLASE39.
SUPFAMiSSF51445. SSF51445. 1 hit.
PROSITEiPS01027. GLYCOSYL_HYDROL_F39. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P35475-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:653
Mass (Da):72,670
Last modified:April 4, 2006 - v2
Checksum:i9D2399B22FD172BD
GO
Isoform 2 (identifier: P35475-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     53-100: CPPLPHSQADQYVLSWDQQLNLAYVGAVPHRGIKQVRTHWLLELVTTR → W
     265-324: GARSSISILE...DVTYAAMVVK → VRPAPPSAPV...PGPSCPGHPQ

Note: No experimental confirmation available.

Show »
Length:675
Mass (Da):73,455
Checksum:i6599D5F961F1E06C
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti622 – 6221A → T in AAA51698 (PubMed:1505961).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 194Missing in MPS1H. 1 Publication
VAR_003349
Natural varianti18 – 181L → P in MPS1S. 1 Publication
VAR_072367
Natural varianti33 – 331H → Q.5 Publications
Corresponds to variant rs10794537 [ dbSNP | Ensembl ].
VAR_003350
Natural varianti51 – 511G → D in MPS1H. 2 Publications
VAR_003351
Natural varianti75 – 751A → T in MPS1H. 2 Publications
VAR_003352
Natural varianti76 – 761Y → C in MPS1S. 1 Publication
VAR_066215
Natural varianti79 – 791A → V in MPS1H/S; reduction of activity and protein levels. 1 Publication
VAR_020975
Natural varianti82 – 821H → P in MPS1H/S. 1 Publication
VAR_003353
Natural varianti82 – 821H → Q Reduction of protein levels. 1 Publication
Corresponds to variant rs148775298 [ dbSNP | Ensembl ].
VAR_020976
Natural varianti84 – 841G → R in MPS1H/S. 1 Publication
VAR_066216
Natural varianti89 – 891R → Q in MPS1S; in Japanese 21% of alleles. 2 Publications
VAR_003354
Natural varianti89 – 891R → W in MPS1S. 2 Publications
VAR_003355
Natural varianti103 – 1031T → P in MPS1H; uncertain pathological role. 1 Publication
VAR_066217
Natural varianti105 – 1051R → Q.3 Publications
Corresponds to variant rs3755955 [ dbSNP | Ensembl ].
VAR_003356
Natural varianti116 – 1161G → R.
Corresponds to variant rs148946496 [ dbSNP | Ensembl ].
VAR_003357
Natural varianti133 – 1331M → I in MPS1H. 1 Publication
VAR_020977
Natural varianti178 – 1781E → K in MPS1H/S. 1 Publication
VAR_066218
Natural varianti182 – 1821E → K in MPS1H. 1 Publication
VAR_020978
Natural varianti188 – 1881F → L in MPS1H/S; associated with R-423. 1 Publication
VAR_066219
Natural varianti208 – 2081G → D in MPS1H. 1 Publication
VAR_020979
Natural varianti218 – 2181L → P in MPS1H. 1 Publication
VAR_003358
Natural varianti219 – 2191G → E in MPS1S. 1 Publication
VAR_066220
Natural varianti238 – 2381L → Q in MPS1H/S. 1 Publication
VAR_020980
Natural varianti260 – 2601S → F in MPS1H/S. 1 Publication
VAR_020981
Natural varianti265 – 2651G → R in MPS1H/S. 1 Publication
VAR_066221
Natural varianti276 – 2761E → K in MPS1H/S and MPS1S. 1 Publication
VAR_066222
Natural varianti279 – 2791V → A.
VAR_003359
Natural varianti300 – 3001A → T in IDUA pseudodeficiency. 1 Publication
VAR_017435
Natural varianti306 – 3061W → L in MPS1S. 1 Publication
VAR_066223
Natural varianti315 – 3151D → Y in MPS1 and MPS1H; loss of function; undetectable enzyme activity. 1 Publication
VAR_003360
Natural varianti327 – 3271A → P in MPS1H; MPS1H/S. 5 Publications
VAR_003361
Natural varianti346 – 3461L → R in MPS1H/S; 0.4% of normal activity. 1 Publication
VAR_017436
Natural varianti348 – 3481N → K in MPS1S. 1 Publication
VAR_066224
Natural varianti349 – 3502Missing in MPS1H. 1 Publication
VAR_003363
Natural varianti349 – 3491D → N in MPS1H.
VAR_003362
Natural varianti349 – 3491D → Y in MPS1H. 1 Publication
VAR_020982
Natural varianti350 – 3501N → I in MPS1S. 1 Publication
VAR_020983
Natural varianti361 – 3611A → T.4 Publications
Corresponds to variant rs6831280 [ dbSNP | Ensembl ].
VAR_003364
Natural varianti363 – 3631R → C in MPS1H/S; loss of activity. 1 Publication
VAR_020984
Natural varianti366 – 3661T → P in MPS1H. 1 Publication
VAR_003365
Natural varianti380 – 3801Q → R in MPS1H/S and MPS1S. 3 Publications
VAR_003366
Natural varianti383 – 3831R → H in MPS1S; 2-3% of normal activity. 2 Publications
VAR_003367
Natural varianti385 – 3851P → R in MPS1H. 1 Publication
VAR_066225
Natural varianti388 – 3881T → R in MPS1H. 1 Publication
VAR_003368
Natural varianti396 – 3961L → LALL in MPS1H.
VAR_003369
Natural varianti396 – 3961L → P in MPS1. 1 Publication
VAR_066226
Natural varianti409 – 4091G → R in MPS1H. 1 Publication
Corresponds to variant rs11934801 [ dbSNP | Ensembl ].
VAR_003370
Natural varianti423 – 4231S → R in MPS1S and MPS1H/S; associated with L-188 in a patient with MPS1H/S; significant reduction of activity and protein levels. 2 Publications
VAR_020985
Natural varianti436 – 4361A → P in MPS1H/S. 1 Publication
VAR_066227
Natural varianti445 – 4451Missing in MPS1S. 1 Publication
VAR_003371
Natural varianti449 – 4491H → N.1 Publication
VAR_066228
Natural varianti454 – 4541V → I.3 Publications
Corresponds to variant rs73066479 [ dbSNP | Ensembl ].
VAR_003372
Natural varianti489 – 4891R → P in MPS1H. 1 Publication
Corresponds to variant rs4690226 [ dbSNP | Ensembl ].
VAR_003373
Natural varianti490 – 4901L → P in MPS1H/S and MPS1S. 2 Publications
VAR_003374
Natural varianti492 – 4921R → P in MPS1S. 2 Publications
VAR_003375
Natural varianti496 – 4961P → L in MPS1H/S. 1 Publication
VAR_003376
Natural varianti496 – 4961P → R in MPS1H/S. 1 Publication
VAR_066229
Natural varianti504 – 5041M → T in MPS1H/S. 1 Publication
VAR_003377
Natural varianti533 – 5331P → R in MPS1H and MPS1H/S; in 3% of the MPS1H patients; reduces catalytic activity and protein stability. 5 Publications
VAR_003378
Natural varianti535 – 5351L → F in MPS1H/S. 1 Publication
VAR_066230
Natural varianti591 – 5911A → T.1 Publication
VAR_066231
Natural varianti602 – 6021F → I in MPS1H/S; reduction of activity and protein levels. 1 Publication
VAR_020986
Natural varianti619 – 6191R → G in MPS1H/S; 1.5% of normal activity. 1 Publication
VAR_017437
Natural varianti620 – 6201V → F in MPS1H; loss of function; undetectable enzyme activity. 1 Publication
VAR_072368
Natural varianti626 – 6261W → R in MPS1H/S. 1 Publication
VAR_003379
Natural varianti628 – 6281R → P in MPS1H/S. 1 Publication
VAR_020987

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei53 – 10048CPPLP…LVTTR → W in isoform 2. 1 PublicationVSP_057029Add
BLAST
Alternative sequencei265 – 32460GARSS…AMVVK → VRPAPPSAPVFCALSRCAPG RADPGGAEAAPPAGCAQLHL HPGAGEGRRAADPAALPQVR GHPHLQRRGGPAGGLVPATA VEGGRDLRGHGGEGGPAQRP ARPPATFLPRRDRRAVAAPP GPSCPGHPQ in isoform 2. 1 PublicationVSP_057030Add
BLAST

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.
CCDSiCCDS3343.1. [P35475-1]
PIRiS53645.
RefSeqiNP_000194.2. NM_000203.4. [P35475-1]
UniGeneiHs.89560.

Genome annotation databases

EnsembliENST00000247933; ENSP00000247933; ENSG00000127415. [P35475-1]
GeneIDi3425.
KEGGihsa:3425.
UCSCiuc003gby.3. human. [P35475-1]

Polymorphism and mutation databases

BioMutaiIDUA.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS3343.1. [P35475-1]
PIRiS53645.
RefSeqiNP_000194.2. NM_000203.4. [P35475-1]
UniGeneiHs.89560.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi