ARSL - arylsulfatase L Gene

Also Known as ASE; ARSE; CDPX; CDPX1; CDPXR

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 415

About ARSL

Cytogenetic location: Xp22.33 Genomic coordinates (GRCh38): X:2,934,521-2,968,245 (from NCBI)

This gene has 27 transcripts (splice variants), 309 orthologues, 16 paralogues and is associated with 4 phenotypes. Biased expression in kidney (RPKM 13.0), liver (RPKM 12.3) and 9 other tissues.

Summary

Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013]

ARSL Products (5)

mRNA	Protein	Name
NM_000047.3	NP_000038.2	arylsulfatase L isoform 2 precursor
NM_001282628.2	NP_001269557.1	arylsulfatase L isoform 1
NM_001282631.2	NP_001269560.2	arylsulfatase L isoform 3
NM_001369079.1	NP_001356008.1	arylsulfatase L isoform 4 precursor
NM_001369080.1	NP_001356009.1	arylsulfatase L isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables arylsulfatase activity	IDA IDA: Inferred from direct assay	9497243	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	9497243	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ARSL Protein Structure

Sulfatase

Sulfatase_C

0
100
200
300
400
500
589 a.a.

Protein Preferred Names	Protein Names
arylsulfatase L	arylsulfatase E (chondrodysplasia punctata 1)

ARSL Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810850	Arylsulfatase E Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Chondrodysplasia Punctata 1, X-Linked Recessive	CDPX1 Chondrodysplasia Punctata, Brachytelephalangic Cpxr Chondrodysplasia Punctata, X-Linked Recessive Chondrodysplasia Punctata Brachytelephalangic Arylsulfatase E Deficiency Chondrodysplasia Punctata 1 X-Linked Recessive Chondrodysplasia Punctata, Type 1, X-Linked Recessive Brachytelephalangic Chondrodysplasia Punctata X-Linked Chondrodysplasia Punctata 1
Chondrodysplasia Punctata, Brachytelephalangic, Autosomal	Brachytelephalangic Chondrodysplasia Punctata Bcdp
X-Linked Chondrodysplasia Punctata 1	Chondrodysplasia Punctata 1, X-Linked Arylsulfatase E Deficiency Chondrodystrophia Calcificans Congenita Cdpx1 X-Linked Recessive Chondrodysplasia Punctata 1 Brachytelephalangic Chondrodysplasia Punctata
Chondrodysplasia Punctata Syndrome	Chondrodysplasia Punctata Chondrodysplasia Punctata Congenita Toriello Higgins Miller Syndrome Chondrodysplasia Punctata, Toriello Type Toriello-Higgins-Miller Syndrome Cdp Chondrodysplasia Punctata, X-Linked Dominant Type Chondrodysplasia Punctata Group Dysplasia Punctata Epiphysis Dysplasia Punctata Dysplasia Epiphysealis Punctata Chondrodystrophy Of Punctata
Acquired Hyperkeratosis	Acquired Keratoderma Keratoderma - Acquired Keratoderma, Acquired Keratosis Blennorrhagica
Tracheal Calcification	Calcification Of Trachea
46,Xy Sex Reversal 1	SRXY1 46,Xy Gonadal Dysgenesis, Complete, Sry-Related 46,Xy Sex Reversal, Sry-Related Swyer Syndrome 46xy Sex Reversal 1 46,Xy Gonadal Dysgenesis Complete Sry-Related 46,Xy Sex Reversal Sry-Related 46,Xy True Hermaphroditism Sry-Related Gonadal Dysgenesis Xy Female Type Xy Females 46,Xy True Hermaphroditism, Sry-Related Gonadal Dysgenesis, 46,Xy 46, Xy Female
Raynaud-Claes Syndrome	Mrx49 MRXSRC Mental Retardation, X-Linked 49 Mrx15 Clcn4-Related X-Linked Intellectual Disability Syndrome Mental Retardation, X-Linked 15 X-Linked Mental Retardation 15 X-Linked Mental Retardation 49 Mental Retardation, X-Linked-49
Turner Syndrome	Monosomy X Gonadal Dysgenesis Turner Type Ullrich-Turner Syndrome Bonnevie-Ullrich Syndrome Karyotype 45, X Genital Dwarfism, Turner Type Gonadal Dysgenesis 45,X Turner'S Syndrome Gonadal Dysgenesis - Turner Monosomy X Syndrome Xo Syndrome Genital Dwarfism 45, X Syndrome Bonnevie-Ulrich Syndrome Chromosome X Monosomy X Schereshevkii Turner Syndrome Turner Varny Syndrome Ts 45,X Syndrome 45,X/46,Xx Syndrome Turners Syndrome Gonadal Dysgenesis, 45,X X0 Syndrome
Midface Dysplasia
Occupational Dermatitis	Dermatitis, Occupational Occupational Allergic Contact Dermatitis Occupational Eczema
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Ichthyosis, X-Linked	X-Linked Ichthyosis Steroid Sulfatase Deficiency Placental Steroid Sulfatase Deficiency Steroid Sulfatase Deficiency Disease XLI Sts Deficiency Ssdd X-Linked Recessive Ichthyosis X-Linked Ichthyosis With Steryl-Sulphatase Deficiency X-Linked Placental Steryl-Sulphatase Deficiency Ssd X Linked Ichthyosis Recessive X-Linked Ichthyosis Rxli Syndromic Recessive X-Linked Ichthyosis Recessive X-Linked Ichthyosis With Extracutaneous Manifestations Syndromic Rxli X-Linked Ichthyosis Syndrome IXL Ichthyosis X-Linked Sex-Linked Ichthyosis X-Linked Ichthyosis With Steryl-Sulfatase Deficiency
Cutis Laxa, Autosomal Dominant 1	Cutis Laxa, Autosomal Dominant Autosomal Dominant Cutis Laxa ADCL1 Adcl Autosomal Dominant Cutis Laxa 1 Cutis Laxa, Autosomal Dominant, 1 Cutis Laxa, Autosomal Dominant, Type 1
Leri-Weill Dyschondrosteosis	LWD Dyschondrosteosis Dco Léri-Weill Dyschondrosteosis Leri Weill Dyschondrosteosis Leri-Weill Syndrome Leri-Weil Syndrome Dyschondrosteosis, Leri-Weill
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01043	ARSL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ARSL	RGD	RGD:1304917
Macaca mulatta	ARSL	VGNC	VGNC:81361
Bos taurus	ARSL	VGNC	VGNC:55097
Canis familiaris	ARSL	VGNC	VGNC:55096
Felis catus	ARSL	VGNC	VGNC:108359
Others	ARSL	NCBI