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    ARSL arylsulfatase L [ Homo sapiens (human) ]

    Gene ID: 415, updated on 10-Dec-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
    • 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
    		not available

    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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    NEW Try the new Transcript table

    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

      UniProtKB/TrEMBL
      F5H324

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

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

      UniProtKB/TrEMBL
      B2R7S0

    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

    Gene LinkOut

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