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    ARSF arylsulfatase F [ Homo sapiens (human) ]

    Gene ID: 416, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ARSFprovided by HGNC
    Official Full Name
    arylsulfatase Fprovided by HGNC
    Primary source
    HGNC:HGNC:721
    See related
    Ensembl:ENSG00000062096 MIM:300003; AllianceGenome:HGNC:721
    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
    ASF
    Summary
    This gene is a member of the sulfatase family, and more specifically, the arylsulfatase subfamily. Members of the subfamily share similarity in sequence and splice sites, and are clustered together on chromosome X, suggesting that they are derived from recent gene duplication events. Sulfatases are essential for the correct composition of bone and cartilage matrix. The activity of this protein, unlike that of arylsulfatase E, is not inhibited by warfarin. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jan 2011]
    Expression
    Biased expression in kidney (RPKM 3.3), skin (RPKM 2.1) and 5 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    Xp22.33
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (3040234..3112727)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (2653638..2726133)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (2958275..3030768)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes 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 L Neighboring gene arylsulfatase family member H Neighboring gene RNA, 7SL, cytoplasmic 578, pseudogene Neighboring gene ribosomal protein S24 pseudogene 21 Neighboring gene MPRA-validated peak7351 silencer Neighboring gene NANOG hESC enhancer GRCh37_chrX:3102859-3103394 Neighboring gene long intergenic non-protein coding RNA 1546

    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. The sulfatase gene family. Parenti G, et al. Curr Opin Genet Dev, 1997 Jun. PMID 9229115
    2. A serine/arginine-rich domain in the human U1 70k protein is necessary and sufficient for ASF/SF2 binding. Cao W, et al. J Biol Chem, 1998 Aug 7. PMID 9685421
    3. Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region. Puca AA, et al. Genomics, 1997 Jun 1. PMID 9192838
    4. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Franco B, et al. Cell, 1995 Apr 7. PMID 7720070
    5. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Suzuki Y, et al. Genome Res, 2004 Sep. PMID 15342556, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    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 arylsulfatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    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 F
    NP_001188467.1
    NP_001188468.1
    NP_004033.2
    XP_011543824.1
    XP_011543825.1
    XP_011543826.1
    XP_016885017.1
    XP_054183053.1
    XP_054183054.1
    XP_054183055.1
    XP_054183056.1

    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_012822.2 RefSeqGene

      Range
      6238..77494
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001201538.2 → NP_001188467.1  arylsulfatase F precursor

      See identical proteins and their annotated locations for NP_001188467.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC112653, BP274206, BP277542, BX107362, DA628671
      Consensus CDS
      CCDS14123.1
      UniProtKB/Swiss-Prot
      P54793, Q8TCC5
      Conserved Domains (1) summary
      cl23718
      Location:29 → 553
      ALP_like; alkaline phosphatases and sulfatases

    2. NM_001201539.2 → NP_001188468.1  arylsulfatase F precursor

      See identical proteins and their annotated locations for NP_001188468.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC112653, BC022389
      Consensus CDS
      CCDS14123.1
      UniProtKB/Swiss-Prot
      P54793, Q8TCC5
      Related
      ENSP00000370519.1, ENST00000381127.6
      Conserved Domains (1) summary
      cl23718
      Location:29 → 553
      ALP_like; alkaline phosphatases and sulfatases

    3. NM_004042.5 → NP_004033.2  arylsulfatase F precursor

      See identical proteins and their annotated locations for NP_004033.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest variant. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC112653, DA156994, X97868
      Consensus CDS
      CCDS14123.1
      UniProtKB/Swiss-Prot
      P54793, Q8TCC5
      Related
      ENSP00000352319.2, ENST00000359361.2
      Conserved Domains (1) summary
      cl23718
      Location:29 → 553
      ALP_like; alkaline phosphatases and sulfatases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      3040234..3112727
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545522.2 → XP_011543824.1  arylsulfatase F isoform X1

      Conserved Domains (2) summary
      COG3119
      Location:44 → 560
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cl23718
      Location:46 → 570
      ALP_like; alkaline phosphatases and sulfatases

    2. XM_011545523.2 → XP_011543825.1  arylsulfatase F isoform X2

      Conserved Domains (2) summary
      COG3119
      Location:44 → 531
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cl23718
      Location:46 → 541
      ALP_like; alkaline phosphatases and sulfatases

    3. XM_011545524.2 → XP_011543826.1  arylsulfatase F isoform X3

      Conserved Domains (2) summary
      COG3119
      Location:44 → 194
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cl23718
      Location:46 → 425
      ALP_like; alkaline phosphatases and sulfatases

    4. XM_017029528.1 → XP_016885017.1  arylsulfatase F isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      2653638..2726133
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327078.1 → XP_054183053.1  arylsulfatase F isoform X1

    2. XM_054327079.1 → XP_054183054.1  arylsulfatase F isoform X2

    3. XM_054327080.1 → XP_054183055.1  arylsulfatase F isoform X3

    4. XM_054327081.1 → XP_054183056.1  arylsulfatase F isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P54793.4 GenPept UniProtKB/Swiss-Prot:P54793

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