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Protein

N-sulphoglucosamine sulphohydrolase

Gene

SGSH

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

Functioni

Catalyzes a step in lysosomal heparan sulfate degradation.3 Publications

Catalytic activityi

N-sulfo-D-glucosamine + H2O = D-glucosamine + sulfate.3 Publications

Cofactori

Ca2+1 PublicationNote: Binds 1 Ca2+ ion per subunit.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi31 – 311CalciumCombined sources1 Publication
Metal bindingi32 – 321CalciumCombined sources1 Publication
Metal bindingi70 – 701Calcium; via 3-oxoalanineCombined sources1 Publication
Metal bindingi273 – 2731CalciumCombined sources1 Publication
Metal bindingi274 – 2741CalciumCombined sources1 Publication

GO - Molecular functioni

GO - Biological processi

  • glycosaminoglycan catabolic process Source: UniProtKB
  • heparan sulfate proteoglycan catabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BRENDAi3.10.1.1. 2681.
ReactomeiR-HSA-2024096. HS-GAG degradation.
R-HSA-2206307. MPS IIIA - Sanfilippo syndrome A.

Names & Taxonomyi

Protein namesi
Recommended name:
N-sulphoglucosamine sulphohydrolase (EC:3.10.1.13 Publications)
Alternative name(s):
Sulfoglucosamine sulfamidase
Sulphamidase
Gene namesi
Name:SGSH
Synonyms:HSS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:10818. SGSH.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • lysosomal lumen Source: Reactome
  • lysosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Mucopolysaccharidosis 3A (MPS3A)16 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. MPS3A is characterized by earlier onset, rapid progression of symptoms and shorter survival.
See also OMIM:252900
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti32 – 321D → E in MPS3A. 1 Publication
VAR_054670
Natural varianti32 – 321D → G in MPS3A. 1 Publication
VAR_054671
Natural varianti40 – 401Y → N in MPS3A; intermediate. 1 Publication
VAR_007388
Natural varianti42 – 421N → K in MPS3A; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme. 1 Publication
VAR_054672
Natural varianti44 – 441A → T in MPS3A; severe. 1 Publication
VAR_007389
Natural varianti66 – 661S → W in MPS3A; intermediate/severe; common mutation in Italy. 3 Publications
Corresponds to variant rs104894637 [ dbSNP | Ensembl ].
VAR_007390
Natural varianti74 – 741R → C in MPS3A; intermediate/severe; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the majority of newly synthesized protein probably occurs in the endoplasmic reticulum. 6 Publications
Corresponds to variant rs104894636 [ dbSNP | Ensembl ].
VAR_007391
Natural varianti74 – 741R → H in MPS3A.
Corresponds to variant rs778336949 [ dbSNP | Ensembl ].
VAR_007392
Natural varianti79 – 791T → P in MPS3A; severe. 1 Publication
Corresponds to variant rs779703983 [ dbSNP | Ensembl ].
VAR_007393
Natural varianti84 – 852Missing in MPS3A.
VAR_007394
Natural varianti84 – 841H → Y in MPS3A. 1 Publication
VAR_054673
Natural varianti85 – 851Q → R in MPS3A. 1 Publication
VAR_007395
Natural varianti88 – 881M → T in MPS3A. 1 Publication
VAR_054674
Natural varianti90 – 901G → R in MPS3A.
Corresponds to variant rs774010006 [ dbSNP | Ensembl ].
VAR_007396
Natural varianti106 – 1061S → R in MPS3A; shows 3.3% activity of the expressed wild-type enzyme; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells. 1 Publication
VAR_054675
Natural varianti122 – 1221G → R in MPS3A; intermediate. 2 Publications
Corresponds to variant rs761607612 [ dbSNP | Ensembl ].
VAR_007397
Natural varianti128 – 1281P → L in MPS3A; intermediate. 2 Publications
Corresponds to variant rs104894642 [ dbSNP | Ensembl ].
VAR_007398
Natural varianti131 – 1311V → M in MPS3A.
Corresponds to variant rs370636303 [ dbSNP | Ensembl ].
VAR_007399
Natural varianti139 – 1391T → M in MPS3A.
Corresponds to variant rs775112689 [ dbSNP | Ensembl ].
VAR_007400
Natural varianti146 – 1461L → P in MPS3A; severe. 1 Publication
Corresponds to variant rs749358773 [ dbSNP | Ensembl ].
VAR_007401
Natural varianti150 – 1501R → Q in MPS3A; severe. 1 Publication
Corresponds to variant rs104894638 [ dbSNP | Ensembl ].
VAR_007402
Natural varianti150 – 1501R → W in MPS3A. 1 Publication
VAR_054676
Natural varianti163 – 1631L → P in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the mutant protein shows instability in the lysosomes. 1 Publication
VAR_054677
Natural varianti179 – 1791D → N in MPS3A; severe. 1 Publication
Corresponds to variant rs774773010 [ dbSNP | Ensembl ].
VAR_007403
Natural varianti182 – 1821R → C in MPS3A; intermediate. 1 Publication
Corresponds to variant rs529855742 [ dbSNP | Ensembl ].
VAR_007404
Natural varianti191 – 1911G → R in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the majority of newly synthesized protein probably occurs in the endoplasmic reticulum. 1 Publication
Corresponds to variant rs753666460 [ dbSNP | Ensembl ].
VAR_054678
Natural varianti193 – 1931F → L in MPS3A.
VAR_007405
Natural varianti206 – 2061R → P in MPS3A; the mutant enzyme retains 8% residual activity. 2 Publications
Corresponds to variant rs104894643 [ dbSNP | Ensembl ].
VAR_007406
Natural varianti227 – 2271P → R in MPS3A; severe. 1 Publication
Corresponds to variant rs774602372 [ dbSNP | Ensembl ].
VAR_007408
Natural varianti234 – 2341A → G in MPS3A.
Corresponds to variant rs113641837 [ dbSNP | Ensembl ].
VAR_007409
Natural varianti235 – 2351D → N in MPS3A; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme. 2 Publications
Corresponds to variant rs753472891 [ dbSNP | Ensembl ].
VAR_054679
Natural varianti235 – 2351D → V in MPS3A.
Corresponds to variant rs763800418 [ dbSNP | Ensembl ].
VAR_007410
Natural varianti245 – 2451R → H in MPS3A; severe; common mutation in Western Europe and Australia. 3 Publications
Corresponds to variant rs104894635 [ dbSNP | Ensembl ].
VAR_007411
Natural varianti251 – 2511G → A in MPS3A. 2 Publications
Corresponds to variant rs144461610 [ dbSNP | Ensembl ].
VAR_054680
Natural varianti273 – 2731D → N in MPS3A. 1 Publication
VAR_054681
Natural varianti288 – 2881P → S in MPS3A. 1 Publication
VAR_054682
Natural varianti293 – 2931P → S in MPS3A; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme. 1 Publication
Corresponds to variant rs143947056 [ dbSNP | Ensembl ].
VAR_054683
Natural varianti293 – 2931P → T in MPS3A. 1 Publication
VAR_054684
Natural varianti298 – 2981S → P in MPS3A; associated with a slowly progressive clinical phenotype; rapidly degraded but small amounts of the mutant protein are correctly transported to the lysosome; low but significant residual enzymatic activity. 3 Publications
Corresponds to variant rs138504221 [ dbSNP | Ensembl ].
VAR_007412
Natural varianti300 – 3001E → V in MPS3A. 1 Publication
VAR_054685
Natural varianti307 – 3071Q → P in MPS3A. 1 Publication
VAR_054687
Natural varianti321 – 3211T → A in MPS3A.
Corresponds to variant rs758756630 [ dbSNP | Ensembl ].
VAR_007413
Natural varianti322 – 3221I → S in MPS3A. 1 Publication
VAR_054688
Natural varianti354 – 3541A → P in MPS3A. 1 Publication
VAR_007414
Natural varianti355 – 3551E → K in MPS3A. 1 Publication
Corresponds to variant rs766938111 [ dbSNP | Ensembl ].
VAR_054689
Natural varianti364 – 3641S → R in MPS3A.
VAR_007416
Natural varianti369 – 3691E → K in MPS3A; intermediate. 2 Publications
Corresponds to variant rs104894640 [ dbSNP | Ensembl ].
VAR_007417
Natural varianti374 – 3741Y → H in MPS3A. 1 Publication
VAR_054690
Natural varianti377 – 3771R → C in MPS3A; severe; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme. 2 Publications
Corresponds to variant rs772311757 [ dbSNP | Ensembl ].
VAR_007418
Natural varianti377 – 3771R → H in MPS3A.
Corresponds to variant rs746037899 [ dbSNP | Ensembl ].
VAR_007419
Natural varianti380 – 3801Q → R in MPS3A.
Corresponds to variant rs144143780 [ dbSNP | Ensembl ].
VAR_007420
Natural varianti381 – 3811H → HQR in MPS3A.
VAR_054691
Natural varianti386 – 3861L → R in MPS3A. 1 Publication
VAR_007421
Natural varianti389 – 3891N → K in MPS3A.
Corresponds to variant rs764057581 [ dbSNP | Ensembl ].
VAR_007422
Natural varianti403 – 4031Missing in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells. 1 Publication
VAR_054693
Natural varianti432 – 4354YRAR → W in MPS3A.
VAR_054694
Natural varianti433 – 4331R → Q in MPS3A; severe. 1 Publication
Corresponds to variant rs104894641 [ dbSNP | Ensembl ].
VAR_054695
Natural varianti433 – 4331R → W in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the majority of newly synthesized protein probably occurs in the endoplasmic reticulum. 2 Publications
Corresponds to variant rs777267343 [ dbSNP | Ensembl ].
VAR_054696
Natural varianti436 – 4383Missing in MPS3A. 1 Publication
VAR_054697
Natural varianti447 – 4471E → K in MPS3A.
Corresponds to variant rs104894639 [ dbSNP | Ensembl ].
VAR_007423
Natural varianti486 – 4861V → F in MPS3A. 1 Publication
VAR_054698

Keywords - Diseasei

Disease mutation, Mucopolysaccharidosis

Organism-specific databases

MalaCardsiSGSH.
MIMi252900. phenotype.
Orphaneti79269. Sanfilippo syndrome type A.
PharmGKBiPA35726.

Polymorphism and mutation databases

BioMutaiSGSH.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 20201 PublicationAdd
BLAST
Chaini21 – 502482N-sulphoglucosamine sulphohydrolasePRO_0000033433Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi41 – 411N-linked (GlcNAc...)Combined sources3 Publications
Modified residuei70 – 7013-oxoalanine (Cys)1 Publication
Glycosylationi142 – 1421N-linked (GlcNAc...)Sequence analysis
Glycosylationi151 – 1511N-linked (GlcNAc...)Combined sources1 Publication
Disulfide bondi183 ↔ 194Combined sources1 Publication
Glycosylationi264 – 2641N-linked (GlcNAc...)Combined sources2 Publications
Glycosylationi413 – 4131N-linked (GlcNAc...)Combined sources2 Publications
Disulfide bondi481 ↔ 495Combined sources1 Publication

Post-translational modificationi

The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiP51688.
MaxQBiP51688.
PaxDbiP51688.
PeptideAtlasiP51688.
PRIDEiP51688.

PTM databases

iPTMnetiP51688.
PhosphoSiteiP51688.

Expressioni

Gene expression databases

BgeeiENSG00000181523.
CleanExiHS_SGSH.
ExpressionAtlasiP51688. baseline and differential.
GenevisibleiP51688. HS.

Organism-specific databases

HPAiHPA023436.
HPA023451.

Interactioni

Protein-protein interaction databases

BioGridi112346. 11 interactions.
IntActiP51688. 1 interaction.
STRINGi9606.ENSP00000314606.

Structurei

Secondary structure

1
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi24 – 329Combined sources
Helixi38 – 403Combined sources
Beta strandi43 – 453Combined sources
Helixi48 – 547Combined sources
Beta strandi57 – 648Combined sources
Helixi70 – 778Combined sources
Helixi83 – 864Combined sources
Turni94 – 963Combined sources
Helixi107 – 1137Combined sources
Beta strandi117 – 1226Combined sources
Turni129 – 1313Combined sources
Beta strandi135 – 1395Combined sources
Helixi145 – 1495Combined sources
Helixi152 – 16413Combined sources
Beta strandi171 – 1766Combined sources
Turni184 – 1863Combined sources
Helixi188 – 1903Combined sources
Turni195 – 1984Combined sources
Beta strandi199 – 2013Combined sources
Turni202 – 2043Combined sources
Turni217 – 2193Combined sources
Helixi230 – 25930Combined sources
Helixi263 – 2653Combined sources
Beta strandi266 – 2749Combined sources
Helixi287 – 2904Combined sources
Beta strandi294 – 2974Combined sources
Turni303 – 3064Combined sources
Beta strandi307 – 3148Combined sources
Helixi315 – 3173Combined sources
Helixi318 – 3258Combined sources
Beta strandi334 – 3363Combined sources
Helixi349 – 3524Combined sources
Beta strandi360 – 36910Combined sources
Beta strandi373 – 3819Combined sources
Beta strandi384 – 3896Combined sources
Turni390 – 3934Combined sources
Helixi400 – 4034Combined sources
Helixi406 – 41712Combined sources
Helixi427 – 4315Combined sources
Beta strandi435 – 4406Combined sources
Turni441 – 4433Combined sources
Helixi455 – 4573Combined sources
Helixi458 – 47417Combined sources
Turni478 – 4847Combined sources
Beta strandi485 – 4873Combined sources
Beta strandi491 – 4977Combined sources
Beta strandi500 – 5023Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4MHXX-ray2.00A/B1-502[»]
4MIVX-ray2.40A/B/C/D/E/F/G/H1-502[»]
ProteinModelPortaliP51688.
SMRiP51688. Positions 21-502.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi26 – 294Poly-Leu

Sequence similaritiesi

Belongs to the sulfatase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3867. Eukaryota.
COG3119. LUCA.
GeneTreeiENSGT00390000013080.
HOGENOMiHOG000234731.
HOVERGENiHBG012598.
InParanoidiP51688.
KOiK01565.
OMAiKEDRHHE.
OrthoDBiEOG091G073U.
PhylomeDBiP51688.
TreeFamiTF323156.

Family and domain databases

Gene3Di3.40.720.10. 1 hit.
InterProiIPR017849. Alkaline_Pase-like_a/b/a.
IPR017850. Alkaline_phosphatase_core.
IPR032506. DUF4976.
IPR024607. Sulfatase_CS.
IPR000917. Sulfatase_N.
[Graphical view]
PfamiPF16347. DUF4976. 1 hit.
PF00884. Sulfatase. 1 hit.
[Graphical view]
SUPFAMiSSF53649. SSF53649. 2 hits.
PROSITEiPS00523. SULFATASE_1. 1 hit.
PS00149. SULFATASE_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

P51688-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSCPVPACCA LLLVLGLCRA RPRNALLLLA DDGGFESGAY NNSAIATPHL
60 70 80 90 100
DALARRSLLF RNAFTSVSSC SPSRASLLTG LPQHQNGMYG LHQDVHHFNS
110 120 130 140 150
FDKVRSLPLL LSQAGVRTGI IGKKHVGPET VYPFDFAYTE ENGSVLQVGR
160 170 180 190 200
NITRIKLLVR KFLQTQDDRP FFLYVAFHDP HRCGHSQPQY GTFCEKFGNG
210 220 230 240 250
ESGMGRIPDW TPQAYDPLDV LVPYFVPNTP AARADLAAQY TTVGRMDQGV
260 270 280 290 300
GLVLQELRDA GVLNDTLVIF TSDNGIPFPS GRTNLYWPGT AEPLLVSSPE
310 320 330 340 350
HPKRWGQVSE AYVSLLDLTP TILDWFSIPY PSYAIFGSKT IHLTGRSLLP
360 370 380 390 400
ALEAEPLWAT VFGSQSHHEV TMSYPMRSVQ HRHFRLVHNL NFKMPFPIDQ
410 420 430 440 450
DFYVSPTFQD LLNRTTAGQP TGWYKDLRHY YYRARWELYD RSRDPHETQN
460 470 480 490 500
LATDPRFAQL LEMLRDQLAK WQWETHDPWV CAPDGVLEEK LSPQCQPLHN

EL
Length:502
Mass (Da):56,695
Last modified:October 1, 1996 - v1
Checksum:i90C5CDAB4DCC3808
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti32 – 321D → E in MPS3A. 1 Publication
VAR_054670
Natural varianti32 – 321D → G in MPS3A. 1 Publication
VAR_054671
Natural varianti40 – 401Y → N in MPS3A; intermediate. 1 Publication
VAR_007388
Natural varianti42 – 421N → K in MPS3A; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme. 1 Publication
VAR_054672
Natural varianti44 – 441A → T in MPS3A; severe. 1 Publication
VAR_007389
Natural varianti66 – 661S → W in MPS3A; intermediate/severe; common mutation in Italy. 3 Publications
Corresponds to variant rs104894637 [ dbSNP | Ensembl ].
VAR_007390
Natural varianti74 – 741R → C in MPS3A; intermediate/severe; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the majority of newly synthesized protein probably occurs in the endoplasmic reticulum. 6 Publications
Corresponds to variant rs104894636 [ dbSNP | Ensembl ].
VAR_007391
Natural varianti74 – 741R → H in MPS3A.
Corresponds to variant rs778336949 [ dbSNP | Ensembl ].
VAR_007392
Natural varianti79 – 791T → P in MPS3A; severe. 1 Publication
Corresponds to variant rs779703983 [ dbSNP | Ensembl ].
VAR_007393
Natural varianti84 – 852Missing in MPS3A.
VAR_007394
Natural varianti84 – 841H → Y in MPS3A. 1 Publication
VAR_054673
Natural varianti85 – 851Q → R in MPS3A. 1 Publication
VAR_007395
Natural varianti88 – 881M → T in MPS3A. 1 Publication
VAR_054674
Natural varianti90 – 901G → R in MPS3A.
Corresponds to variant rs774010006 [ dbSNP | Ensembl ].
VAR_007396
Natural varianti106 – 1061S → R in MPS3A; shows 3.3% activity of the expressed wild-type enzyme; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells. 1 Publication
VAR_054675
Natural varianti122 – 1221G → R in MPS3A; intermediate. 2 Publications
Corresponds to variant rs761607612 [ dbSNP | Ensembl ].
VAR_007397
Natural varianti128 – 1281P → L in MPS3A; intermediate. 2 Publications
Corresponds to variant rs104894642 [ dbSNP | Ensembl ].
VAR_007398
Natural varianti131 – 1311V → M in MPS3A.
Corresponds to variant rs370636303 [ dbSNP | Ensembl ].
VAR_007399
Natural varianti139 – 1391T → M in MPS3A.
Corresponds to variant rs775112689 [ dbSNP | Ensembl ].
VAR_007400
Natural varianti146 – 1461L → P in MPS3A; severe. 1 Publication
Corresponds to variant rs749358773 [ dbSNP | Ensembl ].
VAR_007401
Natural varianti150 – 1501R → Q in MPS3A; severe. 1 Publication
Corresponds to variant rs104894638 [ dbSNP | Ensembl ].
VAR_007402
Natural varianti150 – 1501R → W in MPS3A. 1 Publication
VAR_054676
Natural varianti163 – 1631L → P in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the mutant protein shows instability in the lysosomes. 1 Publication
VAR_054677
Natural varianti179 – 1791D → N in MPS3A; severe. 1 Publication
Corresponds to variant rs774773010 [ dbSNP | Ensembl ].
VAR_007403
Natural varianti182 – 1821R → C in MPS3A; intermediate. 1 Publication
Corresponds to variant rs529855742 [ dbSNP | Ensembl ].
VAR_007404
Natural varianti191 – 1911G → R in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the majority of newly synthesized protein probably occurs in the endoplasmic reticulum. 1 Publication
Corresponds to variant rs753666460 [ dbSNP | Ensembl ].
VAR_054678
Natural varianti193 – 1931F → L in MPS3A.
VAR_007405
Natural varianti206 – 2061R → P in MPS3A; the mutant enzyme retains 8% residual activity. 2 Publications
Corresponds to variant rs104894643 [ dbSNP | Ensembl ].
VAR_007406
Natural varianti226 – 2261V → A.1 Publication
VAR_007407
Natural varianti227 – 2271P → R in MPS3A; severe. 1 Publication
Corresponds to variant rs774602372 [ dbSNP | Ensembl ].
VAR_007408
Natural varianti234 – 2341A → G in MPS3A.
Corresponds to variant rs113641837 [ dbSNP | Ensembl ].
VAR_007409
Natural varianti235 – 2351D → N in MPS3A; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme. 2 Publications
Corresponds to variant rs753472891 [ dbSNP | Ensembl ].
VAR_054679
Natural varianti235 – 2351D → V in MPS3A.
Corresponds to variant rs763800418 [ dbSNP | Ensembl ].
VAR_007410
Natural varianti245 – 2451R → H in MPS3A; severe; common mutation in Western Europe and Australia. 3 Publications
Corresponds to variant rs104894635 [ dbSNP | Ensembl ].
VAR_007411
Natural varianti251 – 2511G → A in MPS3A. 2 Publications
Corresponds to variant rs144461610 [ dbSNP | Ensembl ].
VAR_054680
Natural varianti273 – 2731D → N in MPS3A. 1 Publication
VAR_054681
Natural varianti288 – 2881P → S in MPS3A. 1 Publication
VAR_054682
Natural varianti293 – 2931P → S in MPS3A; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme. 1 Publication
Corresponds to variant rs143947056 [ dbSNP | Ensembl ].
VAR_054683
Natural varianti293 – 2931P → T in MPS3A. 1 Publication
VAR_054684
Natural varianti298 – 2981S → P in MPS3A; associated with a slowly progressive clinical phenotype; rapidly degraded but small amounts of the mutant protein are correctly transported to the lysosome; low but significant residual enzymatic activity. 3 Publications
Corresponds to variant rs138504221 [ dbSNP | Ensembl ].
VAR_007412
Natural varianti300 – 3001E → V in MPS3A. 1 Publication
VAR_054685
Natural varianti304 – 3041R → L.1 Publication
Corresponds to variant rs745884647 [ dbSNP | Ensembl ].
VAR_054686
Natural varianti307 – 3071Q → P in MPS3A. 1 Publication
VAR_054687
Natural varianti321 – 3211T → A in MPS3A.
Corresponds to variant rs758756630 [ dbSNP | Ensembl ].
VAR_007413
Natural varianti322 – 3221I → S in MPS3A. 1 Publication
VAR_054688
Natural varianti354 – 3541A → P in MPS3A. 1 Publication
VAR_007414
Natural varianti355 – 3551E → K in MPS3A. 1 Publication
Corresponds to variant rs766938111 [ dbSNP | Ensembl ].
VAR_054689
Natural varianti361 – 3611V → I.
Corresponds to variant rs9894254 [ dbSNP | Ensembl ].
VAR_007415
Natural varianti364 – 3641S → R in MPS3A.
VAR_007416
Natural varianti369 – 3691E → K in MPS3A; intermediate. 2 Publications
Corresponds to variant rs104894640 [ dbSNP | Ensembl ].
VAR_007417
Natural varianti372 – 3721M → I.
Corresponds to variant rs58786455 [ dbSNP | Ensembl ].
VAR_061884
Natural varianti374 – 3741Y → H in MPS3A. 1 Publication
VAR_054690
Natural varianti377 – 3771R → C in MPS3A; severe; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme. 2 Publications
Corresponds to variant rs772311757 [ dbSNP | Ensembl ].
VAR_007418
Natural varianti377 – 3771R → H in MPS3A.
Corresponds to variant rs746037899 [ dbSNP | Ensembl ].
VAR_007419
Natural varianti380 – 3801Q → R in MPS3A.
Corresponds to variant rs144143780 [ dbSNP | Ensembl ].
VAR_007420
Natural varianti381 – 3811H → HQR in MPS3A.
VAR_054691
Natural varianti386 – 3861L → R in MPS3A. 1 Publication
VAR_007421
Natural varianti387 – 3871V → M.1 Publication
Corresponds to variant rs62620232 [ dbSNP | Ensembl ].
VAR_054692
Natural varianti389 – 3891N → K in MPS3A.
Corresponds to variant rs764057581 [ dbSNP | Ensembl ].
VAR_007422
Natural varianti394 – 3941M → I.
Corresponds to variant rs34297805 [ dbSNP | Ensembl ].
VAR_052517
Natural varianti403 – 4031Missing in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells. 1 Publication
VAR_054693
Natural varianti432 – 4354YRAR → W in MPS3A.
VAR_054694
Natural varianti433 – 4331R → Q in MPS3A; severe. 1 Publication
Corresponds to variant rs104894641 [ dbSNP | Ensembl ].
VAR_054695
Natural varianti433 – 4331R → W in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the majority of newly synthesized protein probably occurs in the endoplasmic reticulum. 2 Publications
Corresponds to variant rs777267343 [ dbSNP | Ensembl ].
VAR_054696
Natural varianti436 – 4383Missing in MPS3A. 1 Publication
VAR_054697
Natural varianti447 – 4471E → K in MPS3A.
Corresponds to variant rs104894639 [ dbSNP | Ensembl ].
VAR_007423
Natural varianti456 – 4561R → H Does not affect enzyme activity; cells transfected with the mutant enzyme contain a 62 kDa precursor and a 56 kDa mature form as cells transfected with the wild-type enzyme. 6 Publications
Corresponds to variant rs7503034 [ dbSNP | Ensembl ].
VAR_007424
Natural varianti486 – 4861V → F in MPS3A. 1 Publication
VAR_054698

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U30894 mRNA. Translation: AAA86530.1.
U60111
, U60107, U60108, U60109, U60110 Genomic DNA. Translation: AAB17952.1.
AK291257 mRNA. Translation: BAF83946.1.
BC047318 mRNA. Translation: AAH47318.1.
CCDSiCCDS11770.1.
RefSeqiNP_000190.1. NM_000199.3.
UniGeneiHs.31074.

Genome annotation databases

EnsembliENST00000326317; ENSP00000314606; ENSG00000181523.
GeneIDi6448.
KEGGihsa:6448.
UCSCiuc002jxz.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U30894 mRNA. Translation: AAA86530.1.
U60111
, U60107, U60108, U60109, U60110 Genomic DNA. Translation: AAB17952.1.
AK291257 mRNA. Translation: BAF83946.1.
BC047318 mRNA. Translation: AAH47318.1.
CCDSiCCDS11770.1.
RefSeqiNP_000190.1. NM_000199.3.
UniGeneiHs.31074.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4MHXX-ray2.00A/B1-502[»]
4MIVX-ray2.40A/B/C/D/E/F/G/H1-502[»]
ProteinModelPortaliP51688.
SMRiP51688. Positions 21-502.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112346. 11 interactions.
IntActiP51688. 1 interaction.
STRINGi9606.ENSP00000314606.

PTM databases

iPTMnetiP51688.
PhosphoSiteiP51688.

Polymorphism and mutation databases

BioMutaiSGSH.

Proteomic databases

EPDiP51688.
MaxQBiP51688.
PaxDbiP51688.
PeptideAtlasiP51688.
PRIDEiP51688.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000326317; ENSP00000314606; ENSG00000181523.
GeneIDi6448.
KEGGihsa:6448.
UCSCiuc002jxz.5. human.

Organism-specific databases

CTDi6448.
GeneCardsiSGSH.
HGNCiHGNC:10818. SGSH.
HPAiHPA023436.
HPA023451.
MalaCardsiSGSH.
MIMi252900. phenotype.
605270. gene.
neXtProtiNX_P51688.
Orphaneti79269. Sanfilippo syndrome type A.
PharmGKBiPA35726.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3867. Eukaryota.
COG3119. LUCA.
GeneTreeiENSGT00390000013080.
HOGENOMiHOG000234731.
HOVERGENiHBG012598.
InParanoidiP51688.
KOiK01565.
OMAiKEDRHHE.
OrthoDBiEOG091G073U.
PhylomeDBiP51688.
TreeFamiTF323156.

Enzyme and pathway databases

BRENDAi3.10.1.1. 2681.
ReactomeiR-HSA-2024096. HS-GAG degradation.
R-HSA-2206307. MPS IIIA - Sanfilippo syndrome A.

Miscellaneous databases

ChiTaRSiSGSH. human.
GeneWikiiSGSH.
GenomeRNAii6448.
PROiP51688.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000181523.
CleanExiHS_SGSH.
ExpressionAtlasiP51688. baseline and differential.
GenevisibleiP51688. HS.

Family and domain databases

Gene3Di3.40.720.10. 1 hit.
InterProiIPR017849. Alkaline_Pase-like_a/b/a.
IPR017850. Alkaline_phosphatase_core.
IPR032506. DUF4976.
IPR024607. Sulfatase_CS.
IPR000917. Sulfatase_N.
[Graphical view]
PfamiPF16347. DUF4976. 1 hit.
PF00884. Sulfatase. 1 hit.
[Graphical view]
SUPFAMiSSF53649. SSF53649. 2 hits.
PROSITEiPS00523. SULFATASE_1. 1 hit.
PS00149. SULFATASE_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSPHM_HUMAN
AccessioniPrimary (citable) accession number: P51688
Secondary accession number(s): A8K5E2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: September 7, 2016
This is version 147 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.