Entity Details

Primary name ARSL_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP51690
EntryNameARSL_HUMAN
FullNameArylsulfatase L
TaxID9606
Evidenceevidence at protein level
Length589
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesARSL

GO terms

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GOName
GO:0001501 skeletal system development
GO:0004065 arylsulfatase activity
GO:0005788 endoplasmic reticulum lumen
GO:0005794 Golgi apparatus
GO:0005795 Golgi stack
GO:0046872 metal ion binding
GO:0070062 extracellular exosome

Subcellular Location

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Subcellular Location
Golgi apparatus

Domains

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DomainNameCategoryType
IPR000917 Sulfatase, N-terminalDomainDomain
IPR017850 Alkaline-phosphatase-like, core domain superfamilyFamilyHomologous superfamily
IPR024607 Sulfatase, conserved siteSiteConserved site

Diseases

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Disease IDSourceNameDescription
302950 OMIMChondrodysplasia punctata 1, X-linked recessive (CDPX1)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
ARSL_HUMANCOQ6_HUMANBioGRID, HPRD, IntAct16169070 details
ARSL_HUMANMBRL_HUMANHPRD, IntAct16169070 details
ARSL_HUMANNECD_HUMANBioGRID, HPRD, IntAct16169070 details
ARSL_HUMANACK1_HUMANHPRD, IntAct16169070 details