Reviewed, UniProtKB/Swiss-Prot P51690 (ARSE_HUMAN)

Names and origin

Protein names

Recommended name:
    Arylsulfatase E
      Short name=ASE
    EC=3.1.6.-

Gene names

Name:

ARSE

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	589 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 apparatus › Golgi stack.
Tissue specificity	Expressed in the pancreas, liver and kidney.
Post-translational modification	N-glycosylated. Ref.4 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	Defects in ARSE are the cause of chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]. CDP is 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. 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.

Ontologies

Keywords
Cellular component	Golgi apparatus
Disease	Disease mutation
Domain	Signal
Ligand	Calcium Metal-binding
Molecular function	Hydrolase
PTM	Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	metabolic process Inferred from electronic annotation. Source: InterPro skeletal system development Ref.1 Traceable author statement. Source: ProtInc
Cellular component	Golgi stack Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	arylsulfatase activity Traceable author statement. Source: ProtInc calcium ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 31	31	Potential
	Chain	32 – 589	558	Arylsulfatase E		PRO_0000033425
Sites
	Active site	147	1	By similarity
	Metal binding	46	1	Calcium By similarity
	Metal binding	47	1	Calcium By similarity
	Metal binding	86	1	Calcium; via 3-oxoalanine By similarity
	Metal binding	353	1	Calcium By similarity
	Metal binding	354	1	Calcium By similarity
	Binding site	145	1	Substrate By similarity
	Binding site	301	1	Substrate By similarity
	Binding site	378	1	Substrate By similarity
Amino acid modifications
	Modified residue	86	1	3-oxoalanine (Cys) By similarity
	Glycosylation	58	1	N-linked (GlcNAc...) Potential
	Glycosylation	125	1	N-linked (GlcNAc...) Ref.4
	Glycosylation	258	1	N-linked (GlcNAc...) Potential
	Glycosylation	344	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	12	1	R → S in CDPX1. Ref.1		VAR_007307
	Natural variant	80	1	I → N in CDPX1. Ref.6		VAR_023570
	Natural variant	111	1	R → P in CDPX1. Ref.1		VAR_007308
	Natural variant	117	1	G → R in CDPX1. Ref.1		VAR_007309
	Natural variant	137	1	G → V in CDPX1. Ref.1		VAR_007310
	Natural variant	183	1	R → H: dbSNP rs34412194.		VAR_037974
	Natural variant	245	1	G → R in CDPX1. Ref.1		VAR_007311
	Natural variant	424	1	G → S: dbSNP rs35143646. Ref.2		VAR_037975
	Natural variant	481	1	T → M in CDPX1. Ref.6		VAR_023571
	Natural variant	492	1	C → Y in CDPX1. Ref.5		VAR_007312
	Natural variant	578	1	P → S in CDPX1. dbSNP rs28935474. Ref.6		VAR_023572
Experimental info
	Sequence conflict	168	1	D → E in CAA58556. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P51690-1 [UniParc]. Last modified October 11, 2005. Version 2. Checksum: 37A941EF4A44027A	FASTA	589	65,669
	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

References

	« Hide 'large scale' referencesShow '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: 7720070] [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: 9497243] [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: 19159218] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-125, MASS SPECTROMETRY. 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: 9409863] [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: 12567415] [Abstract] Cited for: VARIANTS CDPX1 ASN-80; MET-481 AND SER-578.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	X83573 mRNA. Translation: CAA58556.1. AK223183 mRNA. Translation: BAD96903.1. AK223199 mRNA. Translation: BAD96919.1.
IPI	IPI00020005.
PIR	I37187.
RefSeq	NP_000038.2.
UniGene	Hs.386975
3D structure databases
HSSP	HSSP built from PDB template 1P49 based on UniProtKB P08842.
ModBase	Search...
Protein-protein interaction databases
IntAct	P51690. 4 interactions.
STRING	P51690.
Proteomic databases
PRIDE	P51690.
Genome annotation databases
Ensembl	ENST00000381134; ENSP00000370526; ENSG00000157399; Homo sapiens. [Genome view] ENST00000438544; ENSP00000406528; ENSG00000157399; Homo sapiens. [Genome view]
GeneID	415.
KEGG	hsa:415.
UCSC	uc004crc.2. human.
Organism-specific databases
CTD	415.
GeneCards	GC0XM002846.
HGNC	HGNC:719. ARSE.
MIM	300180. gene. 302950. phenotype.
Orphanet	79345. Chondrodysplasia punctata, brachytelephalangic. 176. Chondrodysplasia punctata, nonrhizomelic type.
PharmGKB	PA25010.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	P51690.
OMA	AQHSDHE.
Gene expression databases
ArrayExpress	P51690.
Bgee	P51690.
CleanEx	HS_ARSE.
Genevestigator	P51690.
GermOnline	ENSG00000157399. Homo sapiens.
Family and domain databases
InterPro	IPR017849. Alkaline_Pase-like_a/b/a. IPR000917. Sulfatase. [Graphical view]
Gene3D	G3DSA:3.40.720.10. Alk_phosphtse. 1 hit.
Pfam	PF00884. Sulfatase. 1 hit. [Graphical view]
PROSITE	PS00523. SULFATASE_1. 1 hit. PS00149. SULFATASE_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	1755.
SOURCE	Search...

Entry information

Entry name

ARSE_HUMAN

Accession

Primary (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:	November 3, 2009
This is version 79 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.