Reviewed, UniProtKB/Swiss-Prot P51689 (ARSD_HUMAN)

Names and origin

Protein names

Recommended name:
    Arylsulfatase D
      Short name=ASD
    EC=3.1.6.-

Gene names

Name:

ARSD

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	593 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Cofactor	Binds 1 calcium ion per subunit By similarity.
Subcellular location	LysosomePotential.
Tissue specificity	Expressed in the pancreas, kidney, liver, lung, placenta, brain and heart.
Post-translational modification	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.
Sequence similarities	Belongs to the sulfatase family.

Ontologies

Keywords
Cellular component	Lysosome
Coding sequence diversity	Alternative splicing
Domain	Signal
Ligand	Calcium Metal-binding
Molecular function	Hydrolase
PTM	Glycoprotein
Gene Ontology (GO)
Molecular function	arylsulfatase activity Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P51689-1)

Also known as: Alpha;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: P51689-2)

Also known as: Beta;

The sequence of this isoform differs from the canonical sequence as follows:
     334-382: GKVLNAIEDN...WNGIYKGGKG → ASDFMSSSEV...PVRLQILKRA
     383-593: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Signal peptide	1 – 33	33	Potential
	Chain	34 – 593	560	Arylsulfatase D
Sites
	Active site	150	1	By similarity
	Metal binding	49	1	Calcium By similarity
	Metal binding	50	1	Calcium By similarity
	Metal binding	89	1	Calcium; via 3-oxoalanine By similarity
	Metal binding	356	1	Calcium By similarity
	Metal binding	357	1	Calcium By similarity
Amino acid modifications
	Modified residue	89	1	3-oxoalanine (Cys) By similarity
	Glycosylation	61	1	N-linked (GlcNAc...) Potential
	Glycosylation	128	1	N-linked (GlcNAc...) Potential
	Glycosylation	347	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	334 – 382	49	GKVLN…KGGKG → ASDFMSSSEVTESEAIKLMF RTMQRRCLPSMAFKKPWRGP VRLQILKRA in isoform 2.
	Alternative sequence	383 – 593	211	Missing in isoform 2.
Experimental info
	Sequence conflict	224	1	S → C in AAF22253. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Alpha) [UniParc]. Last modified October 1, 1996. Version 1. Checksum: 74CD9227952BE5DA	FASTA	593	65,071
	10 20 30 40 50 60 MRSAARRGRA APAARDSLPV LLFLCLLLKT CEPKTANAFK PNILLIMADD LGTGDLGCYG 70 80 90 100 110 120 NNTLRTPNID QLAEEGVRLT QHLAAAPLCT PSRAAFLTGR HSFRSGMDAS NGYRALQWNA 130 140 150 160 170 180 GSGGLPENET TFARILQQHG YATGLIGKWH QGVNCASRGD HCHHPLNHGF DYFYGMPFTL 190 200 210 220 230 240 TNDCDPGRPP EVDAALRAQL WGYTQFLALG ILTLAAGQTC GFFSVSARAV TGMAGVGCLF 250 260 270 280 290 300 FISWYSSFGF VRRWNCILMR NHDVTEQPMV LEKTASLMLK EAVSYIERHK HGPFLLFLSL 310 320 330 340 350 360 LHVHIPLVTT SAFLGKSQHG LYGDNVEEMD WLIGKVLNAI EDNGLKNSTF TYFTSDHGGH 370 380 390 400 410 420 LEARDGHSQL GGWNGIYKGG KGMGGWEGGI RVPGIFHWPG VLPAGRVIGE PTSLMDVFPT 430 440 450 460 470 480 VVQLVGGEVP QDRVIDGHSL VPLLQGAEAR SAHEFLFHYC GQHLHAARWH QKDSGSVWKV 490 500 510 520 530 540 HYTTPQFHPE ERGLLTAEAS AHAEWGGVTH HRPPLLFDLS RDPSEARPLT PDSEPLYHAV 550 560 570 580 590 IARVGAAVSE HRQTLSPVPQ QFSMSNILWK PWLQPCCGHF PFCSCHEDGD GTP
	Isoform 2 (Beta) [UniParc]. Checksum: C9A8FFBE567654DD		382	42,315
	10 20 30 40 50 60 MRSAARRGRA APAARDSLPV LLFLCLLLKT CEPKTANAFK PNILLIMADD LGTGDLGCYG 70 80 90 100 110 120 NNTLRTPNID QLAEEGVRLT QHLAAAPLCT PSRAAFLTGR HSFRSGMDAS NGYRALQWNA 130 140 150 160 170 180 GSGGLPENET TFARILQQHG YATGLIGKWH QGVNCASRGD HCHHPLNHGF DYFYGMPFTL 190 200 210 220 230 240 TNDCDPGRPP EVDAALRAQL WGYTQFLALG ILTLAAGQTC GFFSVSARAV TGMAGVGCLF 250 260 270 280 290 300 FISWYSSFGF VRRWNCILMR NHDVTEQPMV LEKTASLMLK EAVSYIERHK HGPFLLFLSL 310 320 330 340 350 360 LHVHIPLVTT SAFLGKSQHG LYGDNVEEMD WLIASDFMSS SEVTESEAIK LMFRTMQRRC 370 380 LPSMAFKKPW RGPVRLQILK RA

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] (ISOFORM 1). Tissue: Kidney.

[2]

"Arylsulfatase D gene in Xp22.3 encodes two protein isoforms." Urbitsch P., Salzer M.J., Hirschmann P., Vogt P.H. DNA Cell Biol. 19:765-773(2000) [PubMed: 11177574] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Testis.

Cross-references

Sequence databases
EMBLGenBankDDBJ	X83572 mRNA. Translation: CAA58555.1. AF160499 mRNA. Translation: AAF22253.1.
PIR	I37186.
RefSeq	NP_001660.2. NP_033667.2.
UniGene	Hs.695978
3D structure databases
HSSP	HSSP built from PDB template 1P49 based on UniProtKB P08842.
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000006756. Homo sapiens. [Contig view]
GeneID	414.
KEGG	hsa:414.
Organism-specific databases
HGNC	HGNC:717. ARSD.
HPA	HPA004694.
MIM	300002. gene.
PharmGKB	PA25008.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOVERGEN	P51689.
Gene expression databases
ArrayExpress	P51689.
CleanEx	HS_ARSD.
GermOnline	ENSG00000006756. Homo sapiens.
Family and domain databases
InterPro	IPR017849. Alkaline_Pase-like_a/b/a. IPR000917. Sulphatase. [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]
ProDom	P51689. [Graphical view] [Entries sharing at least one domain]
BLOCKS	Search...
Other Resources
LinkHub	P51689.
SOURCE	Search...
ProtoNet	Search...

Entry information

Entry name

ARSD_HUMAN

Accession

Primary (citable) accession number: P51689
Secondary accession number(s): Q9UHJ8

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	October 1, 1996
Last modified:	September 2, 2008
This is version 60 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)