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P51690

- ARSE_HUMAN

UniProt

P51690 - ARSE_HUMAN

Protein

Arylsulfatase E

Gene

ARSE

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 125 (01 Oct 2014)
      Sequence version 2 (11 Oct 2005)
      Previous versions | rss
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    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 – 461CalciumBy similarity
    Metal bindingi47 – 471CalciumBy similarity
    Metal bindingi86 – 861Calcium; via 3-oxoalanineBy similarity
    Binding sitei145 – 1451SubstrateBy similarity
    Active sitei147 – 1471By similarity
    Binding sitei301 – 3011SubstrateBy similarity
    Metal bindingi353 – 3531CalciumBy similarity
    Metal bindingi354 – 3541CalciumBy similarity
    Binding sitei378 – 3781SubstrateBy 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

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

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 3131Sequence AnalysisAdd
    BLAST
    Chaini32 – 589558Arylsulfatase EPRO_0000033425Add
    BLAST

    Amino acid modifications

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

    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.
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the sulfatase family.Curated

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti168 – 1681D → E in CAA58556. (PubMed:7720070)Curated

    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 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

    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: October 1, 2014
    This is version 125 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