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ARSL arylsulfatase L [ Homo sapiens (human) ]

Gene ID: 415, updated on 2-Nov-2024

Summary

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Official Symbol
ARSLprovided by HGNC
Official Full Name
arylsulfatase Lprovided by HGNC
Primary source
HGNC:HGNC:719
See related
Ensembl:ENSG00000157399 MIM:300180; AllianceGenome:HGNC:719
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ASE; ARSE; CDPX; CDPX1; CDPXR
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]
Expression
Biased expression in kidney (RPKM 13.0), liver (RPKM 12.3) and 9 other tissues See more
Orthologs
all
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Genomic context

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See ARSL in Genome Data Viewer
Location:
Xp22.33
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (2934521..2968245, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (2547019..2580711, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (2852562..2886286, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chrX:2764748-2764850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2766248-2766874 Neighboring gene glycogenin 2 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:2807746-2808337 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:2809856-2810546 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2815103-2815898 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2815899-2816694 Neighboring gene ARSD antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:2841876-2842386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:2842387-2842896 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20639 Neighboring gene arylsulfatase D Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2878567-2879390 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2879391-2880216 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:2881867-2882690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29373 Neighboring gene arylsulfatase family member H Neighboring gene RNA, 7SL, cytoplasmic 578, pseudogene Neighboring gene arylsulfatase F

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature. Capron C, et al. Andrology, 2022 Nov. PMID 36026611
  2. A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies. Matos-Miranda C, et al. Genet Med, 2013 Aug. PMID 23470839
  3. Clinical and genetic analysis of a Korean patient with X-linked chondrodysplasia punctata: identification of a novel splicing mutation in the ARSE gene. Jeon GW, et al. Ann Clin Lab Sci, 2013 Winter. PMID 23462608
  4. Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. Daniele A, et al. Am J Hum Genet, 1998 Mar. PMID 9497243, Free PMC Article
  5. Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation. Seidel J, et al. Clin Genet, 2001 Feb. PMID 11260213

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.
    Title: Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.
  2. Data indicate that the neonatal detection test sensitivity obtained was 95% with a positive predictive value of 1 in the analyses for both the arylsulfatase E (ARSE) and melanoma antigen family H1 (MAGEH1) genes.
    Title: Neonatal detection of Turner syndrome by real-time PCR gene quantification of the ARSE and MAGEH1 genes.
  3. Results show that Around 40 perdcent of male patients with brachytelephalangic chondrodysplasia punctata do not have detectable ARSE mutations or known maternal etiological factors.
    Title: A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.
  4. Clinical and molecular analysis of ARSE in CDPX1 patients supports heterogeneity for CDPX1-like phenotypes and sorting these out will help to define the biological pathway and genetic contributors. [ARSE]
    Title: Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
X-linked chondrodysplasia punctata 1
MedGen: C3669395 OMIM: 302950 GeneReviews: Chondrodysplasia Punctata 1, X-Linked
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).
EBI GWAS Catalog
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC163310

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables arylsulfatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables arylsulfatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in skeletal system development TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi stack IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
arylsulfatase L
Names
arylsulfatase E (chondrodysplasia punctata 1)
NP_000038.2
NP_001269557.1
NP_001269560.2
NP_001356008.1
NP_001356009.1
XP_005274576.1
XP_005274578.1
XP_011543823.1
XP_047298065.1
XP_047298066.1
XP_054183048.1
XP_054183049.1
XP_054183050.1
XP_054183051.1
XP_054183052.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007091.1 RefSeqGene

    Range
    4930..34750
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000047.3 → NP_000038.2  arylsulfatase L isoform 2 precursor

    See identical proteins and their annotated locations for NP_000038.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC005295, AK223183, AK223199, AW779826
    Consensus CDS
    CCDS14122.1
    UniProtKB/Swiss-Prot
    P51690, Q53FT2, Q53FU8
    UniProtKB/TrEMBL
    A0A5F9ZHZ5, A1L484
    Related
    ENSP00000370526.3, ENST00000381134.9
    Conserved Domains (2) summary
    COG3119
    Location:34 → 532
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cl23718
    Location:37 → 560
    ALP_like; alkaline phosphatases and sulfatases

  2. NM_001282628.2 → NP_001269557.1  arylsulfatase L isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC005295, AK293648, AK301004, AW779826, BC130438, CN270432, DB073314
    Consensus CDS
    CCDS75948.1
    UniProtKB/TrEMBL
    B7Z6V4, F5GYY5
    Related
    ENSP00000441417.1, ENST00000545496.6
    Conserved Domains (1) summary
    cl23718
    Location:62 → 585
    ALP_like; alkaline phosphatases and sulfatases

  3. NM_001282631.2 → NP_001269560.2  arylsulfatase L isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon, lacks two alternate exons in the coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK293648, AK301004
    Consensus CDS
    CCDS75949.2
    UniProtKB/TrEMBL
    A0A5F9ZHX8, F5H324
    Related
    ENSP00000500108.1, ENST00000672761.1
    Conserved Domains (1) summary
    cl23718
    Location:9 → 506
    ALP_like; alkaline phosphatases and sulfatases

  4. NM_001369079.1 → NP_001356008.1  arylsulfatase L isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC005295
    UniProtKB/TrEMBL
    A0A5F9ZHZ5, A1L484
    Related
    ENSP00000500727.1, ENST00000672097.1
    Conserved Domains (1) summary
    cl23718
    Location:46 → 569
    ALP_like; alkaline phosphatases and sulfatases

  5. NM_001369080.1 → NP_001356009.1  arylsulfatase L isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC005295
    Consensus CDS
    CCDS75948.1
    UniProtKB/TrEMBL
    B7Z6V4, F5GYY5
    Related
    ENSP00000500220.1, ENST00000672027.1
    Conserved Domains (1) summary
    cl23718
    Location:62 → 585
    ALP_like; alkaline phosphatases and sulfatases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    2934521..2968245 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047442110.1 → XP_047298066.1  arylsulfatase L isoform X4

  2. XM_005274521.5 → XP_005274578.1  arylsulfatase L isoform X2

    See identical proteins and their annotated locations for XP_005274578.1

    UniProtKB/TrEMBL
    A0A5F9ZHX8, F5H324
    Related
    ENSP00000500778.1, ENST00000673032.1
    Conserved Domains (1) summary
    cl23718
    Location:9 → 506
    ALP_like; alkaline phosphatases and sulfatases

  3. XM_011545521.2 → XP_011543823.1  arylsulfatase L isoform X5

    UniProtKB/TrEMBL
    A0A804HJF6
    Related
    ENSP00000507604.1, ENST00000682364.1
    Conserved Domains (2) summary
    COG3119
    Location:34 → 345
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cl23718
    Location:37 → 373
    ALP_like; alkaline phosphatases and sulfatases

  4. XM_005274519.5 → XP_005274576.1  arylsulfatase L isoform X1

    See identical proteins and their annotated locations for XP_005274576.1

    UniProtKB/Swiss-Prot
    P51690, Q53FT2, Q53FU8
    UniProtKB/TrEMBL
    A0A5F9ZHZ5, A1L484
    Related
    ENSP00000507304.1, ENST00000684364.1
    Conserved Domains (2) summary
    COG3119
    Location:34 → 532
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cl23718
    Location:37 → 560
    ALP_like; alkaline phosphatases and sulfatases

  5. XM_047442109.1 → XP_047298065.1  arylsulfatase L isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    2547019..2580711 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327076.1 → XP_054183051.1  arylsulfatase L isoform X4

  2. XM_054327074.1 → XP_054183049.1  arylsulfatase L isoform X2

  3. XM_054327077.1 → XP_054183052.1  arylsulfatase L isoform X5

  4. XM_054327073.1 → XP_054183048.1  arylsulfatase L isoform X1

  5. XM_054327075.1 → XP_054183050.1  arylsulfatase L isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P51690.2 GenPept UniProtKB/Swiss-Prot:P51690

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