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Protein

Arylsulfatase E

Gene

ARSE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
Active sitei86NucleophileBy 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

  • metabolic process Source: InterPro
  • skeletal system development Source: ProtInc

Keywordsi

Molecular functionHydrolase
LigandCalcium, Metal-binding

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000157399.14
HGNCiHGNC:719 ARSE
MIMi300180 gene
neXtProtiNX_P51690

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs122460151EnsemblClinVar.1
Natural variantiVAR_02357080I → N in CDPX1. 1 Publication1
Natural variantiVAR_007308111R → P in CDPX1. 1 PublicationCorresponds to variant dbSNP:rs122460153EnsemblClinVar.1
Natural variantiVAR_007309117G → R in CDPX1. 1 PublicationCorresponds to variant dbSNP:rs122460152EnsemblClinVar.1
Natural variantiVAR_007310137G → V in CDPX1. 1 PublicationCorresponds to variant dbSNP:rs80338711EnsemblClinVar.1
Natural variantiVAR_007311245G → R in CDPX1. 1 PublicationCorresponds to variant dbSNP:rs122460154EnsemblClinVar.1
Natural variantiVAR_023571481T → M in CDPX1. 1 PublicationCorresponds to variant dbSNP:rs80338713EnsemblClinVar.1
Natural variantiVAR_007312492C → Y in CDPX1. 1 PublicationCorresponds to variant dbSNP:rs122460155EnsemblClinVar.1
Natural variantiVAR_023572578P → S in CDPX1. 1 PublicationCorresponds to variant dbSNP:rs28935474EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi415
GeneReviewsiARSE
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...) asparagineSequence analysis1
Modified residuei863-oxoalanine (Cys)By similarity1
Glycosylationi125N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi258N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi344N-linked (GlcNAc...) asparagineSequence 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

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

Organism-specific databases

HPAiHPA060518

Interactioni

Protein-protein interaction databases

BioGridi106908, 26 interactors
IntActiP51690, 4 interactors
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, 3 hits
InterProiView protein in InterPro
IPR017849 Alkaline_Pase-like_a/b/a
IPR017850 Alkaline_phosphatase_core_sf
IPR024607 Sulfatase_CS
IPR000917 Sulfatase_N
PfamiView protein in Pfam
PF00884 Sulfatase, 1 hit
SUPFAMiSSF53649 SSF53649, 1 hit
PROSITEiView protein in PROSITE
PS00523 SULFATASE_1, 1 hit
PS00149 SULFATASE_2, 1 hit

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 dbSNP:rs122460151EnsemblClinVar.1
Natural variantiVAR_02357080I → N in CDPX1. 1 Publication1
Natural variantiVAR_007308111R → P in CDPX1. 1 PublicationCorresponds to variant dbSNP:rs122460153EnsemblClinVar.1
Natural variantiVAR_007309117G → R in CDPX1. 1 PublicationCorresponds to variant dbSNP:rs122460152EnsemblClinVar.1
Natural variantiVAR_007310137G → V in CDPX1. 1 PublicationCorresponds to variant dbSNP:rs80338711EnsemblClinVar.1
Natural variantiVAR_037974183R → H. Corresponds to variant dbSNP:rs34412194EnsemblClinVar.1
Natural variantiVAR_007311245G → R in CDPX1. 1 PublicationCorresponds to variant dbSNP:rs122460154EnsemblClinVar.1
Natural variantiVAR_037975424G → S1 PublicationCorresponds to variant dbSNP:rs35143646EnsemblClinVar.1
Natural variantiVAR_023571481T → M in CDPX1. 1 PublicationCorresponds to variant dbSNP:rs80338713EnsemblClinVar.1
Natural variantiVAR_007312492C → Y in CDPX1. 1 PublicationCorresponds to variant dbSNP:rs122460155EnsemblClinVar.1
Natural variantiVAR_023572578P → S in CDPX1. 1 PublicationCorresponds to variant dbSNP:rs28935474EnsemblClinVar.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

Similar proteinsi

Entry informationi

Entry nameiARSE_HUMAN
AccessioniPrimary (citable) accession number: P51690
Secondary accession number(s): Q53FT2, Q53FU8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 11, 2005
Last modified: May 23, 2018
This is version 152 of the entry and version 2 of the sequence. See 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

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