P51689 (ARSD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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

Gene names

Name:

ARSD

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › 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 protein level

General annotation (Comments)

Cofactor	Binds 1 calcium ion per subunit By similarity.
Subcellular location	Lysosome Potential.
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.
Sequence caution	The sequence CAA58555.1 differs from that shown. Reason: Frameshift at several positions.

Ontologies

Keywords
Cellular component	Lysosome
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal
Ligand	Calcium Metal-binding
Molecular function	Hydrolase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	glycosphingolipid metabolic process Traceable author statement. Source: Reactome phospholipid metabolic process Traceable author statement. Source: Reactome post-translational protein modification Traceable author statement. Source: Reactome small molecule metabolic process Traceable author statement. Source: Reactome
Cellular_component	endoplasmic reticulum lumen Traceable author statement. Source: Reactome lysosome Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	arylsulfatase activity Traceable author statement Ref.1. Source: ProtInc metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P51689-1)

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.

Isoform 3 (identifier: P51689-3)

Also known as: Alpha;

The sequence of this isoform differs from the canonical sequence as follows:
     504-593: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 33	33	Potential
	Chain	34 – 593	560	Arylsulfatase D		PRO_0000033424
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
	Binding site	148	1	Substrate By similarity
	Binding site	304	1	Substrate By similarity
	Binding site	381	1	Substrate 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...) Ref.5
Natural variations
	Alternative sequence	334 – 382	49	GKVLN…KGGKG → ASDFMSSSEVTESEAIKLMF RTMQRRCLPSMAFKKPWRGP VRLQILKRA in isoform 2.		VSP_015798
	Alternative sequence	383 – 593	211	Missing in isoform 2.		VSP_015799
	Alternative sequence	504 – 593	90	Missing in isoform 3.		VSP_035667
	Natural variant	224	1	S → C. Ref.2 Corresponds to variant rs211653 [ dbSNP | Ensembl ].		VAR_052508
	Natural variant	500	1	V → I. Corresponds to variant rs2229557 [ dbSNP | Ensembl ].		VAR_052509
	Natural variant	564	1	M → T. Corresponds to variant rs2228431 [ dbSNP | Ensembl ].		VAR_052510

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 4, 2008. Version 2. Checksum: 982B29D0FCEF9D34	FASTA	593	64,860
	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 GAGACYGRGV CPCSGEGVTH HRPPLLFDLS RDPSEARPLT PDSEPLYHAV 550 560 570 580 590 IARVGAAVSE HRQTLSPVPQ QFSMSNILWK PWLQPCCGHF PFCSCHEDGD GTP
	Isoform 2 (Beta) [UniParc]. Checksum: C9A8FFBE567654DD	FASTA	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
	Isoform 3 (Alpha) [UniParc]. Checksum: CC4F3F8C7D201877	FASTA	503	54,934
	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 HYTTPQFHPE GAGACYGRGV CPC

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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT CYS-224. Tissue: Testis.
[3]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Colon.
[5]	"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-347, MASS SPECTROMETRY. Tissue: Liver.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X83572 mRNA. Translation: CAA58555.1. Frameshift. AF160499 mRNA. Translation: AAF22253.1. AC005295 Genomic DNA. No translation available. BC020229 mRNA. No translation available.
IPI	IPI00019989. IPI00028695. IPI00914575.
PIR	I37186.
RefSeq	NP_001660.2. NM_001669.3.
UniGene	Hs.528631.
3D structure databases
ProteinModelPortal	P51689.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000370546.
Polymorphism databases
DMDM	212276422.
Proteomic databases
PaxDb	P51689.
PRIDE	P51689.
Protocols and materials databases
DNASU	414.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000381154; ENSP00000370546; ENSG00000006756.
GeneID	414.
KEGG	hsa:414.
UCSC	uc004cqy.3. human.
Organism-specific databases
CTD	414.
GeneCards	GC0XM002818.
HGNC	HGNC:717. ARSD.
HPA	HPA004694.
MIM	300002. gene.
neXtProt	NX_P51689.
PharmGKB	PA25008.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG3119.
HOGENOM	HOG000135352.
HOVERGEN	HBG004283.
InParanoid	P51689.
KO	K12374.
OMA	RSWIPSG.
OrthoDB	EOG4V4379.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism. REACT_17015. Metabolism of proteins.
Gene expression databases
ArrayExpress	P51689.
Bgee	P51689.
CleanEx	HS_ARSD.
Genevestigator	P51689.
GermOnline	ENSG00000006756. Homo sapiens.
Family and domain databases
Gene3D	3.40.720.10. 2 hits.
InterPro	IPR017849. Alkaline_Pase-like_a/b/a. IPR017850. Alkaline_phosphatase_core. IPR000917. Sulfatase. IPR024607. Sulfatase_CS. [Graphical view]
Pfam	PF00884. Sulfatase. 1 hit. [Graphical view]
SUPFAM	SSF53649. Alkaline_phosphatase_core. 1 hit.
PROSITE	PS00523. SULFATASE_1. 1 hit. PS00149. SULFATASE_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	ARSD. human.
GenomeRNAi	414.
NextBio	1749.
SOURCE	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:	November 4, 2008
Last modified:	May 1, 2013
This is version 102 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.