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Protein

Arylsulfatase E

Gene

ARSE

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

Functioni

May be essential for the correct composition of cartilage and bone matrix during development. Has no activity toward steroid sulfates.

Cofactori

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

Enzyme regulationi

Inhibited by millimolar concentrations of warfarin.

pH dependencei

Optimum pH is 7.

Temperature dependencei

Almost completely inactivated after 10 minutes at 50 degrees Celsius.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi46CalciumBy similarity1
Metal bindingi47CalciumBy similarity1
Metal bindingi86Calcium; via 3-oxoalanineBy similarity1
Binding sitei145SubstrateBy similarity1
Active sitei147By similarity1
Binding sitei301SubstrateBy similarity1
Metal bindingi353CalciumBy similarity1
Metal bindingi354CalciumBy similarity1
Binding sitei378SubstrateBy 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:HS08210-MONOMER.
ReactomeiR-HSA-1660662. Glycosphingolipid metabolism.
R-HSA-1663150. The activation of arylsulfatases.

Names & Taxonomyi

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

Organism-specific databases

HGNCiHGNC:719. ARSE.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

Chondrodysplasia punctata 1, X-linked recessive (CDPX1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. CDPX1 is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. This disease can also be induced by inhibition with the drug warfarin.
See also OMIM:302950
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00730712R → S in CDPX1. 1 PublicationCorresponds to variant rs122460151dbSNPEnsembl.1
Natural variantiVAR_02357080I → N in CDPX1. 1 Publication1
Natural variantiVAR_007308111R → P in CDPX1. 1 PublicationCorresponds to variant rs122460153dbSNPEnsembl.1
Natural variantiVAR_007309117G → R in CDPX1. 1 PublicationCorresponds to variant rs122460152dbSNPEnsembl.1
Natural variantiVAR_007310137G → V in CDPX1. 1 PublicationCorresponds to variant rs80338711dbSNPEnsembl.1
Natural variantiVAR_007311245G → R in CDPX1. 1 PublicationCorresponds to variant rs122460154dbSNPEnsembl.1
Natural variantiVAR_023571481T → M in CDPX1. 1 PublicationCorresponds to variant rs80338713dbSNPEnsembl.1
Natural variantiVAR_007312492C → Y in CDPX1. 1 PublicationCorresponds to variant rs122460155dbSNPEnsembl.1
Natural variantiVAR_023572578P → S in CDPX1. 1 PublicationCorresponds to variant rs28935474dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi415.
MalaCardsiARSE.
MIMi302950. phenotype.
OpenTargetsiENSG00000157399.
Orphaneti79345. Brachytelephalangic chondrodysplasia punctata.
PharmGKBiPA25010.

Polymorphism and mutation databases

BioMutaiARSE.
DMDMi77416850.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 31Sequence analysisAdd BLAST31
ChainiPRO_000003342532 – 589Arylsulfatase EAdd BLAST558

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi58N-linked (GlcNAc...)Sequence analysis1
Modified residuei863-oxoalanine (Cys)By similarity1
Glycosylationi125N-linked (GlcNAc...)1 Publication1
Glycosylationi258N-linked (GlcNAc...)Sequence analysis1
Glycosylationi344N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

N-glycosylated.1 Publication
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

EPDiP51690.
MaxQBiP51690.
PaxDbiP51690.
PeptideAtlasiP51690.
PRIDEiP51690.

PTM databases

iPTMnetiP51690.
PhosphoSitePlusiP51690.

Expressioni

Tissue specificityi

Expressed in the pancreas, liver and kidney.

Gene expression databases

BgeeiENSG00000157399.
CleanExiHS_ARSE.
ExpressionAtlasiP51690. baseline and differential.
GenevisibleiP51690. HS.

Interactioni

Protein-protein interaction databases

BioGridi106908. 2 interactors.
IntActiP51690. 4 interactors.
MINTiMINT-1382153.
STRINGi9606.ENSP00000370526.

Structurei

3D structure databases

ProteinModelPortaliP51690.
SMRiP51690.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the sulfatase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3867. Eukaryota.
COG3119. LUCA.
GeneTreeiENSGT00760000119062.
HOVERGENiHBG004283.
InParanoidiP51690.
KOiK18222.
PhylomeDBiP51690.
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]

Sequencei

Sequence statusi: Complete.

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

P51690-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLHLHHSCLC FRSWLPAMLA VLLSLAPSAS SDISASRPNI LLLMADDLGI
60 70 80 90 100
GDIGCYGNNT MRTPNIDRLA EDGVKLTQHI SAASLCTPSR AAFLTGRYPV
110 120 130 140 150
RSGMVSSIGY RVLQWTGASG GLPTNETTFA KILKEKGYAT GLIGKWHLGL
160 170 180 190 200
NCESASDHCH HPLHHGFDHF YGMPFSLMGD CARWELSEKR VNLEQKLNFL
210 220 230 240 250
FQVLALVALT LVAGKLTHLI PVSWMPVIWS ALSAVLLLAS SYFVGALIVH
260 270 280 290 300
ADCFLMRNHT ITEQPMCFQR TTPLILQEVA SFLKRNKHGP FLLFVSFLHV
310 320 330 340 350
HIPLITMENF LGKSLHGLYG DNVEEMDWMV GRILDTLDVE GLSNSTLIYF
360 370 380 390 400
TSDHGGSLEN QLGNTQYGGW NGIYKGGKGM GGWEGGIRVP GIFRWPGVLP
410 420 430 440 450
AGRVIGEPTS LMDVFPTVVR LAGGEVPQDR VIDGQDLLPL LLGTAQHSDH
460 470 480 490 500
EFLMHYCERF LHAARWHQRD RGTMWKVHFV TPVFQPEGAG ACYGRKVCPC
510 520 530 540 550
FGEKVVHHDP PLLFDLSRDP SETHILTPAS EPVFYQVMER VQQAVWEHQR
560 570 580
TLSPVPLQLD RLGNIWRPWL QPCCGPFPLC WCLREDDPQ
Length:589
Mass (Da):65,669
Last modified:October 11, 2005 - v2
Checksum:i37A941EF4A44027A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti168D → E in CAA58556 (PubMed:7720070).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00730712R → S in CDPX1. 1 PublicationCorresponds to variant rs122460151dbSNPEnsembl.1
Natural variantiVAR_02357080I → N in CDPX1. 1 Publication1
Natural variantiVAR_007308111R → P in CDPX1. 1 PublicationCorresponds to variant rs122460153dbSNPEnsembl.1
Natural variantiVAR_007309117G → R in CDPX1. 1 PublicationCorresponds to variant rs122460152dbSNPEnsembl.1
Natural variantiVAR_007310137G → V in CDPX1. 1 PublicationCorresponds to variant rs80338711dbSNPEnsembl.1
Natural variantiVAR_037974183R → H.Corresponds to variant rs34412194dbSNPEnsembl.1
Natural variantiVAR_007311245G → R in CDPX1. 1 PublicationCorresponds to variant rs122460154dbSNPEnsembl.1
Natural variantiVAR_037975424G → S.1 PublicationCorresponds to variant rs35143646dbSNPEnsembl.1
Natural variantiVAR_023571481T → M in CDPX1. 1 PublicationCorresponds to variant rs80338713dbSNPEnsembl.1
Natural variantiVAR_007312492C → Y in CDPX1. 1 PublicationCorresponds to variant rs122460155dbSNPEnsembl.1
Natural variantiVAR_023572578P → S in CDPX1. 1 PublicationCorresponds to variant rs28935474dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X83573 mRNA. Translation: CAA58556.1.
AK223183 mRNA. Translation: BAD96903.1.
AK223199 mRNA. Translation: BAD96919.1.
CCDSiCCDS14122.1.
PIRiI37187.
RefSeqiNP_000038.2. NM_000047.2.
XP_005274576.1. XM_005274519.4.
UniGeneiHs.386975.

Genome annotation databases

EnsembliENST00000381134; ENSP00000370526; ENSG00000157399.
GeneIDi415.
KEGGihsa:415.
UCSCiuc004crc.5. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X83573 mRNA. Translation: CAA58556.1.
AK223183 mRNA. Translation: BAD96903.1.
AK223199 mRNA. Translation: BAD96919.1.
CCDSiCCDS14122.1.
PIRiI37187.
RefSeqiNP_000038.2. NM_000047.2.
XP_005274576.1. XM_005274519.4.
UniGeneiHs.386975.

3D structure databases

ProteinModelPortaliP51690.
SMRiP51690.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106908. 2 interactors.
IntActiP51690. 4 interactors.
MINTiMINT-1382153.
STRINGi9606.ENSP00000370526.

PTM databases

iPTMnetiP51690.
PhosphoSitePlusiP51690.

Polymorphism and mutation databases

BioMutaiARSE.
DMDMi77416850.

Proteomic databases

EPDiP51690.
MaxQBiP51690.
PaxDbiP51690.
PeptideAtlasiP51690.
PRIDEiP51690.

Protocols and materials databases

DNASUi415.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000381134; ENSP00000370526; ENSG00000157399.
GeneIDi415.
KEGGihsa:415.
UCSCiuc004crc.5. human.

Organism-specific databases

CTDi415.
DisGeNETi415.
GeneCardsiARSE.
GeneReviewsiARSE.
HGNCiHGNC:719. ARSE.
MalaCardsiARSE.
MIMi300180. gene.
302950. phenotype.
neXtProtiNX_P51690.
OpenTargetsiENSG00000157399.
Orphaneti79345. Brachytelephalangic chondrodysplasia punctata.
PharmGKBiPA25010.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3867. Eukaryota.
COG3119. LUCA.
GeneTreeiENSGT00760000119062.
HOVERGENiHBG004283.
InParanoidiP51690.
KOiK18222.
PhylomeDBiP51690.
TreeFamiTF314186.

Enzyme and pathway databases

BioCyciZFISH:HS08210-MONOMER.
ReactomeiR-HSA-1660662. Glycosphingolipid metabolism.
R-HSA-1663150. The activation of arylsulfatases.

Miscellaneous databases

GeneWikiiArylsulfatase_E.
GenomeRNAii415.
PROiP51690.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000157399.
CleanExiHS_ARSE.
ExpressionAtlasiP51690. baseline and differential.
GenevisibleiP51690. 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 nameiARSE_HUMAN
AccessioniPrimary (citable) accession number: P51690
Secondary accession number(s): Q53FT2, Q53FU8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 11, 2005
Last modified: November 2, 2016
This is version 142 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.