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Protein

Arylsulfatase D

Gene

ARSD

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

Functioni

Cofactori

Ca2+By similarityNote: Binds 1 Ca2+ ion per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi49CalciumBy similarity1
Metal bindingi50CalciumBy similarity1
Metal bindingi89Calcium; via 3-oxoalanineBy similarity1
Binding sitei148SubstrateBy similarity1
Active sitei150By similarity1
Binding sitei304SubstrateBy similarity1
Metal bindingi356CalciumBy similarity1
Metal bindingi357CalciumBy similarity1
Binding sitei381SubstrateBy similarity1

GO - Molecular functioni

  • arylsulfatase activity Source: ProtInc
  • metal ion binding Source: UniProtKB-KW

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:HS00195-MONOMER.
ReactomeiR-HSA-1660662. Glycosphingolipid metabolism.
R-HSA-1663150. The activation of arylsulfatases.

Names & Taxonomyi

Protein namesi
Recommended name:
Arylsulfatase D (EC:3.1.6.-)
Short name:
ASD
Gene namesi
Name:ARSD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:717. ARSD.

Subcellular locationi

GO - Cellular componenti

  • endoplasmic reticulum lumen Source: Reactome
  • extracellular exosome Source: UniProtKB
  • lysosome Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Organism-specific databases

DisGeNETi414.
OpenTargetsiENSG00000006756.
PharmGKBiPA25008.

Polymorphism and mutation databases

BioMutaiARSD.
DMDMi212276422.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 33Sequence analysisAdd BLAST33
ChainiPRO_000003342434 – 593Arylsulfatase DAdd BLAST560

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi61N-linked (GlcNAc...)Sequence analysis1
Modified residuei893-oxoalanine (Cys)By similarity1
Glycosylationi128N-linked (GlcNAc...)Sequence analysis1
Glycosylationi347N-linked (GlcNAc...)1 Publication1

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.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiP51689.
PaxDbiP51689.
PeptideAtlasiP51689.
PRIDEiP51689.

PTM databases

iPTMnetiP51689.
PhosphoSitePlusiP51689.

Expressioni

Tissue specificityi

Expressed in the pancreas, kidney, liver, lung, placenta, brain and heart.

Gene expression databases

BgeeiENSG00000006756.
CleanExiHS_ARSD.
ExpressionAtlasiP51689. baseline and differential.
GenevisibleiP51689. HS.

Organism-specific databases

HPAiHPA004694.
HPA063835.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000370546.

Structurei

3D structure databases

ProteinModelPortaliP51689.
SMRiP51689.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the sulfatase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3867. Eukaryota.
COG3119. LUCA.
GeneTreeiENSGT00760000119062.
HOGENOMiHOG000135352.
HOVERGENiHBG004283.
InParanoidiP51689.
KOiK12374.
OMAiTPRFHPK.
OrthoDBiEOG091G07AL.
PhylomeDBiP51689.
TreeFamiTF314186.

Family and domain databases

Gene3Di3.40.720.10. 2 hits.
InterProiIPR017849. Alkaline_Pase-like_a/b/a.
IPR017850. Alkaline_phosphatase_core.
IPR024607. Sulfatase_CS.
IPR000917. Sulfatase_N.
[Graphical view]
PfamiPF00884. Sulfatase. 1 hit.
[Graphical view]
SUPFAMiSSF53649. SSF53649. 1 hit.
PROSITEiPS00523. SULFATASE_1. 1 hit.
PS00149. SULFATASE_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P51689-1) [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
MRSAARRGRA APAARDSLPV LLFLCLLLKT CEPKTANAFK PNILLIMADD
60 70 80 90 100
LGTGDLGCYG NNTLRTPNID QLAEEGVRLT QHLAAAPLCT PSRAAFLTGR
110 120 130 140 150
HSFRSGMDAS NGYRALQWNA GSGGLPENET TFARILQQHG YATGLIGKWH
160 170 180 190 200
QGVNCASRGD HCHHPLNHGF DYFYGMPFTL TNDCDPGRPP EVDAALRAQL
210 220 230 240 250
WGYTQFLALG ILTLAAGQTC GFFSVSARAV TGMAGVGCLF FISWYSSFGF
260 270 280 290 300
VRRWNCILMR NHDVTEQPMV LEKTASLMLK EAVSYIERHK HGPFLLFLSL
310 320 330 340 350
LHVHIPLVTT SAFLGKSQHG LYGDNVEEMD WLIGKVLNAI EDNGLKNSTF
360 370 380 390 400
TYFTSDHGGH LEARDGHSQL GGWNGIYKGG KGMGGWEGGI RVPGIFHWPG
410 420 430 440 450
VLPAGRVIGE PTSLMDVFPT VVQLVGGEVP QDRVIDGHSL VPLLQGAEAR
460 470 480 490 500
SAHEFLFHYC GQHLHAARWH QKDSGSVWKV HYTTPQFHPE GAGACYGRGV
510 520 530 540 550
CPCSGEGVTH HRPPLLFDLS RDPSEARPLT PDSEPLYHAV IARVGAAVSE
560 570 580 590
HRQTLSPVPQ QFSMSNILWK PWLQPCCGHF PFCSCHEDGD GTP
Length:593
Mass (Da):64,860
Last modified:November 4, 2008 - v2
Checksum:i982B29D0FCEF9D34
GO
Isoform 2 (identifier: P51689-2) [UniParc]FASTAAdd to basket
Also known as: Beta

The sequence of this isoform differs from the canonical sequence as follows:
     334-382: GKVLNAIEDN...WNGIYKGGKG → ASDFMSSSEV...PVRLQILKRA
     383-593: Missing.

Show »
Length:382
Mass (Da):42,315
Checksum:iC9A8FFBE567654DD
GO
Isoform 3 (identifier: P51689-3) [UniParc]FASTAAdd to basket
Also known as: Alpha

The sequence of this isoform differs from the canonical sequence as follows:
     504-593: Missing.

Show »
Length:503
Mass (Da):54,934
Checksum:iCC4F3F8C7D201877
GO

Sequence cautioni

The sequence CAA58555 differs from that shown. Reason: Frameshift at several positions.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052508224S → C.1 PublicationCorresponds to variant rs211653dbSNPEnsembl.1
Natural variantiVAR_052509500V → I.Corresponds to variant rs2229557dbSNPEnsembl.1
Natural variantiVAR_052510564M → T.Corresponds to variant rs2228431dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_015798334 – 382GKVLN…KGGKG → ASDFMSSSEVTESEAIKLMF RTMQRRCLPSMAFKKPWRGP VRLQILKRA in isoform 2. 1 PublicationAdd BLAST49
Alternative sequenceiVSP_015799383 – 593Missing in isoform 2. 1 PublicationAdd BLAST211
Alternative sequenceiVSP_035667504 – 593Missing in isoform 3. 1 PublicationAdd BLAST90

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X83572 mRNA. Translation: CAA58555.1. Frameshift.
AF160499 mRNA. Translation: AAF22253.1.
AC005295 Genomic DNA. No translation available.
BC020229 mRNA. No translation available.
CCDSiCCDS35196.1. [P51689-1]
PIRiI37186.
RefSeqiNP_001660.2. NM_001669.3. [P51689-1]
NP_033667.2. NM_009589.3.
UniGeneiHs.528631.

Genome annotation databases

EnsembliENST00000381154; ENSP00000370546; ENSG00000006756. [P51689-1]
GeneIDi414.
KEGGihsa:414.
UCSCiuc004cqy.4. human. [P51689-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X83572 mRNA. Translation: CAA58555.1. Frameshift.
AF160499 mRNA. Translation: AAF22253.1.
AC005295 Genomic DNA. No translation available.
BC020229 mRNA. No translation available.
CCDSiCCDS35196.1. [P51689-1]
PIRiI37186.
RefSeqiNP_001660.2. NM_001669.3. [P51689-1]
NP_033667.2. NM_009589.3.
UniGeneiHs.528631.

3D structure databases

ProteinModelPortaliP51689.
SMRiP51689.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000370546.

PTM databases

iPTMnetiP51689.
PhosphoSitePlusiP51689.

Polymorphism and mutation databases

BioMutaiARSD.
DMDMi212276422.

Proteomic databases

EPDiP51689.
PaxDbiP51689.
PeptideAtlasiP51689.
PRIDEiP51689.

Protocols and materials databases

DNASUi414.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000381154; ENSP00000370546; ENSG00000006756. [P51689-1]
GeneIDi414.
KEGGihsa:414.
UCSCiuc004cqy.4. human. [P51689-1]

Organism-specific databases

CTDi414.
DisGeNETi414.
GeneCardsiARSD.
HGNCiHGNC:717. ARSD.
HPAiHPA004694.
HPA063835.
MIMi300002. gene.
neXtProtiNX_P51689.
OpenTargetsiENSG00000006756.
PharmGKBiPA25008.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3867. Eukaryota.
COG3119. LUCA.
GeneTreeiENSGT00760000119062.
HOGENOMiHOG000135352.
HOVERGENiHBG004283.
InParanoidiP51689.
KOiK12374.
OMAiTPRFHPK.
OrthoDBiEOG091G07AL.
PhylomeDBiP51689.
TreeFamiTF314186.

Enzyme and pathway databases

BioCyciZFISH:HS00195-MONOMER.
ReactomeiR-HSA-1660662. Glycosphingolipid metabolism.
R-HSA-1663150. The activation of arylsulfatases.

Miscellaneous databases

ChiTaRSiARSD. human.
GenomeRNAii414.
PROiP51689.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000006756.
CleanExiHS_ARSD.
ExpressionAtlasiP51689. baseline and differential.
GenevisibleiP51689. HS.

Family and domain databases

Gene3Di3.40.720.10. 2 hits.
InterProiIPR017849. Alkaline_Pase-like_a/b/a.
IPR017850. Alkaline_phosphatase_core.
IPR024607. Sulfatase_CS.
IPR000917. Sulfatase_N.
[Graphical view]
PfamiPF00884. Sulfatase. 1 hit.
[Graphical view]
SUPFAMiSSF53649. SSF53649. 1 hit.
PROSITEiPS00523. SULFATASE_1. 1 hit.
PS00149. SULFATASE_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiARSD_HUMAN
AccessioniPrimary (citable) accession number: P51689
Secondary accession number(s): Q9UHJ8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 4, 2008
Last modified: November 2, 2016
This is version 132 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: 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. 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.