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P51690 (ARSE_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 120. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Arylsulfatase E

Short name=ASE
EC=3.1.6.-
Gene names
Name:ARSE
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length589 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Cofactor

Binds 1 calcium ion per subunit By similarity.

Enzyme regulation

Inhibited by millimolar concentrations of warfarin.

Subcellular location

Golgi apparatusGolgi stack.

Tissue specificity

Expressed in the pancreas, liver and kidney.

Post-translational modification

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.

Involvement in disease

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. Ref.1 Ref.5 Ref.6

Sequence similarities

Belongs to the sulfatase family.

Biophysicochemical properties

pH dependence:

Optimum pH is 7.

Temperature dependence:

Almost completely inactivated after 10 minutes at 50 degrees Celsius.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3131 Potential
Chain32 – 589558Arylsulfatase E
PRO_0000033425

Sites

Active site1471 By similarity
Metal binding461Calcium By similarity
Metal binding471Calcium By similarity
Metal binding861Calcium; via 3-oxoalanine By similarity
Metal binding3531Calcium By similarity
Metal binding3541Calcium By similarity
Binding site1451Substrate By similarity
Binding site3011Substrate By similarity
Binding site3781Substrate By similarity

Amino acid modifications

Modified residue8613-oxoalanine (Cys) By similarity
Glycosylation581N-linked (GlcNAc...) Potential
Glycosylation1251N-linked (GlcNAc...) Ref.4
Glycosylation2581N-linked (GlcNAc...) Potential
Glycosylation3441N-linked (GlcNAc...) Potential

Natural variations

Natural variant121R → S in CDPX1. Ref.1
VAR_007307
Natural variant801I → N in CDPX1. Ref.6
VAR_023570
Natural variant1111R → P in CDPX1. Ref.1
VAR_007308
Natural variant1171G → R in CDPX1. Ref.1
VAR_007309
Natural variant1371G → V in CDPX1. Ref.1
VAR_007310
Natural variant1831R → H.
Corresponds to variant rs34412194 [ dbSNP | Ensembl ].
VAR_037974
Natural variant2451G → R in CDPX1. Ref.1
VAR_007311
Natural variant4241G → S. Ref.2
Corresponds to variant rs35143646 [ dbSNP | Ensembl ].
VAR_037975
Natural variant4811T → M in CDPX1. Ref.6
VAR_023571
Natural variant4921C → Y in CDPX1. Ref.5
VAR_007312
Natural variant5781P → S in CDPX1. Ref.6
Corresponds to variant rs28935474 [ dbSNP | Ensembl ].
VAR_023572

Experimental info

Sequence conflict1681D → E in CAA58556. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P51690 [UniParc].

Last modified October 11, 2005. Version 2.
Checksum: 37A941EF4A44027A

FASTA58965,669
        10         20         30         40         50         60 
MLHLHHSCLC FRSWLPAMLA VLLSLAPSAS SDISASRPNI LLLMADDLGI GDIGCYGNNT 

        70         80         90        100        110        120 
MRTPNIDRLA EDGVKLTQHI SAASLCTPSR AAFLTGRYPV RSGMVSSIGY RVLQWTGASG 

       130        140        150        160        170        180 
GLPTNETTFA KILKEKGYAT GLIGKWHLGL NCESASDHCH HPLHHGFDHF YGMPFSLMGD 

       190        200        210        220        230        240 
CARWELSEKR VNLEQKLNFL FQVLALVALT LVAGKLTHLI PVSWMPVIWS ALSAVLLLAS 

       250        260        270        280        290        300 
SYFVGALIVH ADCFLMRNHT ITEQPMCFQR TTPLILQEVA SFLKRNKHGP FLLFVSFLHV 

       310        320        330        340        350        360 
HIPLITMENF LGKSLHGLYG DNVEEMDWMV GRILDTLDVE GLSNSTLIYF TSDHGGSLEN 

       370        380        390        400        410        420 
QLGNTQYGGW NGIYKGGKGM GGWEGGIRVP GIFRWPGVLP AGRVIGEPTS LMDVFPTVVR 

       430        440        450        460        470        480 
LAGGEVPQDR VIDGQDLLPL LLGTAQHSDH EFLMHYCERF LHAARWHQRD RGTMWKVHFV 

       490        500        510        520        530        540 
TPVFQPEGAG ACYGRKVCPC FGEKVVHHDP PLLFDLSRDP SETHILTPAS EPVFYQVMER 

       550        560        570        580 
VQQAVWEHQR TLSPVPLQLD RLGNIWRPWL QPCCGPFPLC WCLREDDPQ 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X83573 mRNA. Translation: CAA58556.1.
AK223183 mRNA. Translation: BAD96903.1.
AK223199 mRNA. Translation: BAD96919.1.
PIRI37187.
RefSeqNP_000038.2. NM_000047.2.
XP_005274576.1. XM_005274519.2.
UniGeneHs.386975.

3D structure databases

ProteinModelPortalP51690.
SMRP51690. Positions 34-589.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106908. 2 interactions.
IntActP51690. 4 interactions.
MINTMINT-1382153.
STRING9606.ENSP00000370526.

PTM databases

PhosphoSiteP51690.

Polymorphism databases

DMDM77416850.

Proteomic databases

PaxDbP51690.
PRIDEP51690.

Protocols and materials databases

DNASU415.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000381134; ENSP00000370526; ENSG00000157399.
GeneID415.
KEGGhsa:415.
UCSCuc004crc.4. human.

Organism-specific databases

CTD415.
GeneCardsGC0XM002846.
HGNCHGNC:719. ARSE.
MIM300180. gene.
302950. phenotype.
neXtProtNX_P51690.
Orphanet79345. Brachytelephalangic chondrodysplasia punctata.
PharmGKBPA25010.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG3119.
HOVERGENHBG004283.
InParanoidP51690.
KOK12374.
OrthoDBEOG7QZG9J.
PhylomeDBP51690.
TreeFamTF314186.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_17015. Metabolism of proteins.

Gene expression databases

ArrayExpressP51690.
BgeeP51690.
CleanExHS_ARSE.
GenevestigatorP51690.

Family and domain databases

Gene3D3.40.720.10. 2 hits.
InterProIPR017849. Alkaline_Pase-like_a/b/a.
IPR017850. Alkaline_phosphatase_core.
IPR000917. Sulfatase.
IPR024607. Sulfatase_CS.
[Graphical view]
PfamPF00884. Sulfatase. 1 hit.
[Graphical view]
SUPFAMSSF53649. SSF53649. 1 hit.
PROSITEPS00523. SULFATASE_1. 1 hit.
PS00149. SULFATASE_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiArylsulfatase_E.
GenomeRNAi415.
NextBio1755.
PROP51690.
SOURCESearch...

Entry information

Entry nameARSE_HUMAN
AccessionPrimary (citable) accession number: P51690
Secondary accession number(s): Q53FT2, Q53FU8
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 11, 2005
Last modified: April 16, 2014
This is version 120 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM