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P51690

- ARSE_HUMAN

UniProt

P51690 - ARSE_HUMAN

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Protein
Arylsulfatase E
Gene
ARSE
Organism
Homo sapiens (Human)
Status
Reviewed - 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

Binds 1 calcium 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)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi46 – 461Calcium By similarity
Metal bindingi47 – 471Calcium By similarity
Metal bindingi86 – 861Calcium; via 3-oxoalanine By similarity
Binding sitei145 – 1451Substrate By similarity
Active sitei147 – 1471 By similarity
Binding sitei301 – 3011Substrate By similarity
Metal bindingi353 – 3531Calcium By similarity
Metal bindingi354 – 3541Calcium By similarity
Binding sitei378 – 3781Substrate By similarity

GO - Molecular functioni

  1. arylsulfatase activity Source: ProtInc
  2. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. cellular protein metabolic process Source: Reactome
  2. glycosphingolipid metabolic process Source: Reactome
  3. post-translational protein modification Source: Reactome
  4. skeletal system development Source: ProtInc
  5. small molecule metabolic process Source: Reactome
  6. sphingolipid metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

ReactomeiREACT_116105. Glycosphingolipid metabolism.
REACT_121036. 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
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:719. ARSE.

Subcellular locationi

GO - Cellular componenti

  1. Golgi stack Source: UniProtKB-SubCell
  2. endoplasmic reticulum lumen Source: Reactome
  3. extracellular vesicular exosome Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121R → S in CDPX1. 1 Publication
VAR_007307
Natural varianti80 – 801I → N in CDPX1. 1 Publication
VAR_023570
Natural varianti111 – 1111R → P in CDPX1. 1 Publication
VAR_007308
Natural varianti117 – 1171G → R in CDPX1. 1 Publication
VAR_007309
Natural varianti137 – 1371G → V in CDPX1. 1 Publication
VAR_007310
Natural varianti245 – 2451G → R in CDPX1. 1 Publication
VAR_007311
Natural varianti481 – 4811T → M in CDPX1. 1 Publication
VAR_023571
Natural varianti492 – 4921C → Y in CDPX1. 1 Publication
VAR_007312
Natural varianti578 – 5781P → S in CDPX1. 1 Publication
Corresponds to variant rs28935474 [ dbSNP | Ensembl ].
VAR_023572

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi302950. phenotype.
Orphaneti79345. Brachytelephalangic chondrodysplasia punctata.
PharmGKBiPA25010.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3131 Reviewed prediction
Add
BLAST
Chaini32 – 589558Arylsulfatase E
PRO_0000033425Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi58 – 581N-linked (GlcNAc...) Reviewed prediction
Modified residuei86 – 8613-oxoalanine (Cys) By similarity
Glycosylationi125 – 1251N-linked (GlcNAc...)1 Publication
Glycosylationi258 – 2581N-linked (GlcNAc...) Reviewed prediction
Glycosylationi344 – 3441N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

N-glycosylated.
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.
PRIDEiP51690.

PTM databases

PhosphoSiteiP51690.

Expressioni

Tissue specificityi

Expressed in the pancreas, liver and kidney.

Gene expression databases

ArrayExpressiP51690.
BgeeiP51690.
CleanExiHS_ARSE.
GenevestigatoriP51690.

Interactioni

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliP51690.
SMRiP51690. Positions 37-589.

Family & Domainsi

Sequence similaritiesi

Belongs to the sulfatase family.

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiCOG3119.
HOVERGENiHBG004283.
InParanoidiP51690.
KOiK18222.
OrthoDBiEOG7QZG9J.
PhylomeDBiP51690.
TreeFamiTF314186.

Family and domain databases

Gene3Di3.40.720.10. 2 hits.
InterProiIPR017849. Alkaline_Pase-like_a/b/a.
IPR017850. Alkaline_phosphatase_core.
IPR000917. Sulfatase.
IPR024607. Sulfatase_CS.
[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

MLHLHHSCLC FRSWLPAMLA VLLSLAPSAS SDISASRPNI LLLMADDLGI    50
GDIGCYGNNT MRTPNIDRLA EDGVKLTQHI SAASLCTPSR AAFLTGRYPV 100
RSGMVSSIGY RVLQWTGASG GLPTNETTFA KILKEKGYAT GLIGKWHLGL 150
NCESASDHCH HPLHHGFDHF YGMPFSLMGD CARWELSEKR VNLEQKLNFL 200
FQVLALVALT LVAGKLTHLI PVSWMPVIWS ALSAVLLLAS SYFVGALIVH 250
ADCFLMRNHT ITEQPMCFQR TTPLILQEVA SFLKRNKHGP FLLFVSFLHV 300
HIPLITMENF LGKSLHGLYG DNVEEMDWMV GRILDTLDVE GLSNSTLIYF 350
TSDHGGSLEN QLGNTQYGGW NGIYKGGKGM GGWEGGIRVP GIFRWPGVLP 400
AGRVIGEPTS LMDVFPTVVR LAGGEVPQDR VIDGQDLLPL LLGTAQHSDH 450
EFLMHYCERF LHAARWHQRD RGTMWKVHFV TPVFQPEGAG ACYGRKVCPC 500
FGEKVVHHDP PLLFDLSRDP SETHILTPAS EPVFYQVMER VQQAVWEHQR 550
TLSPVPLQLD RLGNIWRPWL QPCCGPFPLC WCLREDDPQ 589
Length:589
Mass (Da):65,669
Last modified:October 11, 2005 - v2
Checksum:i37A941EF4A44027A
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121R → S in CDPX1. 1 Publication
VAR_007307
Natural varianti80 – 801I → N in CDPX1. 1 Publication
VAR_023570
Natural varianti111 – 1111R → P in CDPX1. 1 Publication
VAR_007308
Natural varianti117 – 1171G → R in CDPX1. 1 Publication
VAR_007309
Natural varianti137 – 1371G → V in CDPX1. 1 Publication
VAR_007310
Natural varianti183 – 1831R → H.
Corresponds to variant rs34412194 [ dbSNP | Ensembl ].
VAR_037974
Natural varianti245 – 2451G → R in CDPX1. 1 Publication
VAR_007311
Natural varianti424 – 4241G → S.1 Publication
Corresponds to variant rs35143646 [ dbSNP | Ensembl ].
VAR_037975
Natural varianti481 – 4811T → M in CDPX1. 1 Publication
VAR_023571
Natural varianti492 – 4921C → Y in CDPX1. 1 Publication
VAR_007312
Natural varianti578 – 5781P → S in CDPX1. 1 Publication
Corresponds to variant rs28935474 [ dbSNP | Ensembl ].
VAR_023572

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti168 – 1681D → E in CAA58556. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005274519.2.
UniGeneiHs.386975.

Genome annotation databases

EnsembliENST00000381134; ENSP00000370526; ENSG00000157399.
GeneIDi415.
KEGGihsa:415.
UCSCiuc004crc.4. human.

Polymorphism databases

DMDMi77416850.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X83573 mRNA. Translation: CAA58556.1 .
AK223183 mRNA. Translation: BAD96903.1 .
AK223199 mRNA. Translation: BAD96919.1 .
CCDSi CCDS14122.1.
PIRi I37187.
RefSeqi NP_000038.2. NM_000047.2.
XP_005274576.1. XM_005274519.2.
UniGenei Hs.386975.

3D structure databases

ProteinModelPortali P51690.
SMRi P51690. Positions 37-589.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 106908. 2 interactions.
IntActi P51690. 4 interactions.
MINTi MINT-1382153.
STRINGi 9606.ENSP00000370526.

PTM databases

PhosphoSitei P51690.

Polymorphism databases

DMDMi 77416850.

Proteomic databases

MaxQBi P51690.
PaxDbi P51690.
PRIDEi P51690.

Protocols and materials databases

DNASUi 415.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000381134 ; ENSP00000370526 ; ENSG00000157399 .
GeneIDi 415.
KEGGi hsa:415.
UCSCi uc004crc.4. human.

Organism-specific databases

CTDi 415.
GeneCardsi GC0XM002846.
GeneReviewsi ARSE.
HGNCi HGNC:719. ARSE.
MIMi 300180. gene.
302950. phenotype.
neXtProti NX_P51690.
Orphaneti 79345. Brachytelephalangic chondrodysplasia punctata.
PharmGKBi PA25010.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG3119.
HOVERGENi HBG004283.
InParanoidi P51690.
KOi K18222.
OrthoDBi EOG7QZG9J.
PhylomeDBi P51690.
TreeFami TF314186.

Enzyme and pathway databases

Reactomei REACT_116105. Glycosphingolipid metabolism.
REACT_121036. The activation of arylsulfatases.

Miscellaneous databases

GeneWikii Arylsulfatase_E.
GenomeRNAii 415.
NextBioi 1755.
PROi P51690.
SOURCEi Search...

Gene expression databases

ArrayExpressi P51690.
Bgeei P51690.
CleanExi HS_ARSE.
Genevestigatori P51690.

Family and domain databases

Gene3Di 3.40.720.10. 2 hits.
InterProi IPR017849. Alkaline_Pase-like_a/b/a.
IPR017850. Alkaline_phosphatase_core.
IPR000917. Sulfatase.
IPR024607. Sulfatase_CS.
[Graphical view ]
Pfami PF00884. Sulfatase. 1 hit.
[Graphical view ]
SUPFAMi SSF53649. SSF53649. 1 hit.
PROSITEi PS00523. SULFATASE_1. 1 hit.
PS00149. SULFATASE_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy."
    Franco B., Meroni G., Parenti G., Levilliers J., Bernard L., Gebbia M., Cox L., Maroteaux P., Sheffield L., Rappold G.A., Andria G., Petit C., Ballabio A.
    Cell 81:15-25(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS CDPX1 SER-12; PRO-111; ARG-117; VAL-137 AND ARG-245.
    Tissue: Kidney.
  2. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-424.
    Tissue: Kidney proximal tubule and Pancreas.
  3. "Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata."
    Daniele A., Parenti G., D'Addio M., Andria G., Ballabio A., Meroni G.
    Am. J. Hum. Genet. 62:562-572(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION.
  4. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-125.
    Tissue: Liver.
  5. "X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene."
    Parenti G., Buttitta P., Meroni G., Franco B., Bernard L., Rizzolo M.G., Brunetti-Pierri N., Ballabio A., Andria G.
    Am. J. Med. Genet. 73:139-143(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CDPX1 TYR-492.
  6. "X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability."
    Brunetti-Pierri N., Andreucci M.V., Tuzzi R., Vega G.R., Gray G., McKeown C., Ballabio A., Andria G., Meroni G., Parenti G.
    Am. J. Med. Genet. A 117:164-168(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CDPX1 ASN-80; MET-481 AND SER-578.

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: September 3, 2014
This is version 124 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

External Data

Dasty 3

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