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    ARSA arylsulfatase A [ Homo sapiens (human) ]

    Gene ID: 410, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ARSAprovided by HGNC
    Official Full Name
    arylsulfatase Aprovided by HGNC
    Primary source
    HGNC:HGNC:713
    See related
    Ensembl:ENSG00000100299 MIM:607574; AllianceGenome:HGNC:713
    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
    ASA; MLD
    Summary
    The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]
    Expression
    Ubiquitous expression in testis (RPKM 9.9), spleen (RPKM 8.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARSA in Genome Data Viewer
    Location:
    22q13.33
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (50622754..50628152, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (51133297..51138663, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (51061182..51066580, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14002 Neighboring gene CHKB divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:51039601-51040101 Neighboring gene mitogen-activated protein kinase 8 interacting protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:51047655-51048439 Neighboring gene Sharpr-MPRA regulatory region 5053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:51064758-51065540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14004 Neighboring gene uncharacterized LOC124905149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:51073690-51074206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:51074207-51074721 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:51079931-51080494 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:51080495-51081059 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:51081781-51082282 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:51082283-51082782 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:51094338-51095537 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:51113751-51114554 Neighboring gene SH3 and multiple ankyrin repeat domains 3 Neighboring gene RNA, U6 small nuclear 409, pseudogene

    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. An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient. Regis S, et al. Eur J Hum Genet, 2004 Feb. PMID 14571263
    2. Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype. Harvey JS, et al. Hum Mol Genet, 1998 Aug. PMID 9668161
    3. The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy. Ricketts MH, et al. Hum Mutat, 1998. PMID 9744473
    4. Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity. Berger J, et al. Hum Mutat, 1999. PMID 9888390
    5. Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. Online. Marcão A, et al. Hum Mutat, 1999. PMID 10220151

    See all (149) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants.
      Title: Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants.
    2. Identification and structural characterization of a pathogenic ARSA missense variant in two consanguineous families from Jammu and Kashmir (India) with late infantile metachromatic leukodystrophy.
      Title: Identification and structural characterization of a pathogenic ARSA missense variant in two consanguineous families from Jammu and Kashmir (India) with late infantile metachromatic leukodystrophy.
    3. Association of Rare Variants in ARSA with Parkinson's Disease.
      Title: Association of Rare Variants in ARSA with Parkinson's Disease.
    4. Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.
      Title: Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.
    5. Evaluating the role of ARSA in Chinese patients with Parkinson's disease.
      Title: Evaluating the role of ARSA in Chinese patients with Parkinson's disease.
    6. Arylsulfatase A Remodeling during Human Sperm In Vitro Capacitation Using Field Emission Scanning Electron Microscopy (FE-SEM).
      Title: Arylsulfatase A Remodeling during Human Sperm In Vitro Capacitation Using Field Emission Scanning Electron Microscopy (FE-SEM).
    7. Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene.
      Title: Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene.
    8. Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial.
      Title: Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial.
    9. Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity.
      Title: Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity.
    10. Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.
      Title: Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.
    Submit: New GeneRIF Correction See all GeneRIFs (62)

    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
    Metachromatic leukodystrophy
    MedGen: C0023522 OMIM: 250100 GeneReviews: Arylsulfatase A Deficiency
    		Compare labs

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
    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)

    Genotypes

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables arylsulfatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cerebroside-sulfatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sulfuric ester hydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in lysosome TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    arylsulfatase A
    Names
    cerebroside-sulfatase
    epididymis secretory sperm binding protein
    NP_000478.3
    NP_001078894.2
    NP_001078895.2
    NP_001078896.2
    NP_001078897.1
    NP_001349711.1
    XP_011528993.1
    XP_024308009.1
    XP_047297319.1

    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_009260.2 RefSeqGene

      Range
      5028..10426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000487.6 → NP_000478.3  arylsulfatase A isoform a precursor

      See identical proteins and their annotated locations for NP_000478.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and it encodes the longer protein (isoform a). Variants 1, 2, 3, and 4 encode the same isoform (a).
      Source sequence(s)
      AB448736, AK301098, BQ184813, U62317
      Consensus CDS
      CCDS14100.2
      UniProtKB/TrEMBL
      A0A0C4DFZ2, A0A223PQI9
      Related
      ENSP00000216124.5, ENST00000216124.10
      Conserved Domains (2) summary
      COG3119
      Location:21 → 443
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16158
      Location:22 → 505
      ARSA; Arylsulfatase A or cerebroside-sulfatase

    2. NM_001085425.3 → NP_001078894.2  arylsulfatase A isoform a precursor

      See identical proteins and their annotated locations for NP_001078894.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 4 encode the same isoform (a).
      Source sequence(s)
      AB448736, AK092752, BQ184813, DB028013, U62317
      Consensus CDS
      CCDS14100.2
      UniProtKB/TrEMBL
      A0A0C4DFZ2, A0A223PQI9
      Related
      ENSP00000378983.3, ENST00000395621.7
      Conserved Domains (2) summary
      COG3119
      Location:21 → 443
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16158
      Location:22 → 505
      ARSA; Arylsulfatase A or cerebroside-sulfatase

    3. NM_001085426.3 → NP_001078895.2  arylsulfatase A isoform a precursor

      See identical proteins and their annotated locations for NP_001078895.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 4 encode the same isoform (a).
      Source sequence(s)
      AB448736, AK315011, BQ184813, U62317
      Consensus CDS
      CCDS14100.2
      UniProtKB/TrEMBL
      A0A0C4DFZ2, A0A223PQI9
      Related
      ENSP00000348406.5, ENST00000356098.9
      Conserved Domains (2) summary
      COG3119
      Location:21 → 443
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16158
      Location:22 → 505
      ARSA; Arylsulfatase A or cerebroside-sulfatase

    4. NM_001085427.3 → NP_001078896.2  arylsulfatase A isoform a precursor

      See identical proteins and their annotated locations for NP_001078896.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 4 encode the same isoform (a).
      Source sequence(s)
      BQ184813, U62317
      Consensus CDS
      CCDS14100.2
      UniProtKB/TrEMBL
      A0A0C4DFZ2, A0A223PQI9
      Related
      ENSP00000378981.3, ENST00000395619.3
      Conserved Domains (2) summary
      COG3119
      Location:21 → 443
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16158
      Location:22 → 505
      ARSA; Arylsulfatase A or cerebroside-sulfatase

    5. NM_001085428.3 → NP_001078897.1  arylsulfatase A isoform b

      See identical proteins and their annotated locations for NP_001078897.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AB448736, BQ184813, DB028013, U62317
      Consensus CDS
      CCDS46736.1
      UniProtKB/Swiss-Prot
      B2RCA6, B7XD04, F8WCC8, P15289, Q6ICI5, Q96CJ0
      UniProtKB/TrEMBL
      A0A0S2Z373
      Related
      ENSP00000412542.2, ENST00000453344.6
      Conserved Domains (1) summary
      cl23718
      Location:1 → 419
      ALP_like; alkaline phosphatases and sulfatases

    6. NM_001362782.2 → NP_001349711.1  arylsulfatase A isoform b

      Status: REVIEWED

      Source sequence(s)
      BQ184813, U62317
      Consensus CDS
      CCDS46736.1
      UniProtKB/Swiss-Prot
      B2RCA6, B7XD04, F8WCC8, P15289, Q6ICI5, Q96CJ0
      UniProtKB/TrEMBL
      A0A0S2Z373
      Conserved Domains (1) summary
      cl23718
      Location:1 → 419
      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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      50622754..50628152 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441363.1 → XP_047297319.1  arylsulfatase A isoform X1

    2. XM_024452241.2 → XP_024308009.1  arylsulfatase A isoform X1

      UniProtKB/TrEMBL
      A0A0S2Z309
      Conserved Domains (1) summary
      cl23718
      Location:22 → 371
      ALP_like; alkaline phosphatases and sulfatases

    3. XM_011530691.4 → XP_011528993.1  arylsulfatase A isoform X1

      UniProtKB/TrEMBL
      A0A0S2Z309
      Conserved Domains (1) summary
      cl23718
      Location:22 → 371
      ALP_like; alkaline phosphatases and sulfatases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      51133297..51138663 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P15289.3 GenPept UniProtKB/Swiss-Prot:P15289

    Gene LinkOut

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