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    STS steroid sulfatase (microsomal), isozyme S [ Homo sapiens (human) ]

    Gene ID: 412, updated on 8-Jun-2016
    Official Symbol
    STSprovided by HGNC
    Official Full Name
    steroid sulfatase (microsomal), isozyme Sprovided by HGNC
    Primary source
    HGNC:HGNC:11425
    See related
    Ensembl:ENSG00000101846 HPRD:02389; MIM:300747; Vega:OTTHUMG00000021102
    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
    ES; ASC; XLI; ARSC; SSDD; ARSC1
    Summary
    This gene encodes a multi-pass membrane protein that is localized to the endoplasmic reticulum. It belongs to the sulfatase family and hydrolyzes several 3-beta-hydroxysteroid sulfates, which serve as metabolic precursors for estrogens, androgens, and cholesterol. Mutations in this gene are associated with X-linked ichthyosis (XLI). Alternatively spliced transcript variants resulting from the use of different promoters have been described for this gene (PMID:17601726). [provided by RefSeq, Mar 2016]
    Orthologs
    Location:
    Xp22.32
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (7147252..7354643)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (7065298..7272682)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene pseudouridine 5'-phosphatase Neighboring gene uncharacterized LOC107987331 Neighboring gene ribosomal protein S27a pseudogene 17 Neighboring gene microRNA 4767 Neighboring gene uncharacterized LOC107985675 Neighboring gene patatin like phospholipase domain containing 4 Neighboring gene variable charge, X-linked

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    X-linked ichthyosis with steryl-sulfatase deficiency
    MedGen: C0079588 OMIM: 308100 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-08-23)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-08-23)

    ClinGen Genome Curation PagePubMed
    • Estrogen metabolism, organism-specific biosystem (from WikiPathways)
      Estrogen metabolism, organism-specific biosystem
      Estrogen metabolism
    • Gamma carboxylation, hypusine formation and arylsulfatase activation, organism-specific biosystem (from REACTOME)
      Gamma carboxylation, hypusine formation and arylsulfatase activation, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Glycosphingolipid metabolism, organism-specific biosystem (from REACTOME)
      Glycosphingolipid metabolism, organism-specific biosystemThe steps involved in the synthesis of glycosphingolipids (sphingolipids with one or more sugars attached) are annotated here (Gault et al. 2010).
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Sphingolipid metabolism, organism-specific biosystem (from REACTOME)
      Sphingolipid metabolism, organism-specific biosystemSphingolipids are derivatives of long chain sphingoid bases such as sphingosine (trans-1,3-dihydroxy 2-amino-4-octadecene), an 18-carbon unsaturated amino alcohol which is the most abundant sphingoid...
    • Steroid hormone biosynthesis, organism-specific biosystem (from KEGG)
      Steroid hormone biosynthesis, organism-specific biosystemSteroid hormones derived from cholesterol are a class of biologically active compounds in vertebrates. The cholesterol side-chain cleavage enzyme CYP11A1 catalyzes conversion of cholesterol, a C27 co...
    • Steroid hormone biosynthesis, conserved biosystem (from KEGG)
      Steroid hormone biosynthesis, conserved biosystemSteroid hormones derived from cholesterol are a class of biologically active compounds in vertebrates. The cholesterol side-chain cleavage enzyme CYP11A1 catalyzes conversion of cholesterol, a C27 co...
    • The activation of arylsulfatases, organism-specific biosystem (from REACTOME)
      The activation of arylsulfatases, organism-specific biosystemSulfatase activity requires a unique posttranslational modification (PTM) of a catalytic cysteine residue into a formylglycine. This modification is impaired in patients with multiple sulfatase defic...

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    steryl-sulfatase activity TAS
    Traceable Author Statement
    more info
     
    sulfuric ester hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    glycosphingolipid metabolic process TAS
    Traceable Author Statement
    more info
     
    learning or memory IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    response to pH IEA
    Inferred from Electronic Annotation
    more info
     
    response to peptide hormone IEA
    Inferred from Electronic Annotation
    more info
     
    skin development IEA
    Inferred from Electronic Annotation
    more info
     
    steroid catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus TAS
    Traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    endosome TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular membrane-bounded organelle TAS
    Traceable Author Statement
    more info
    PubMed 
    lysosome TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    steryl-sulfatase
    Names
    arylsulfatase C
    estrone sulfatase
    steryl-sulfate sulfohydrolase
    NP_000342.2
    NP_001307679.1
    NP_001307680.1
    NP_001307681.1
    NP_001307682.1
    NP_001307683.1

    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_021472.2 RefSeqGene

      Range
      77180..212392
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000351.5NP_000342.2  steryl-sulfatase isoform 1 precursor

      See identical proteins and their annotated locations for NP_000342.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1. It is expressed almost exclusively in the placenta.
      Source sequence(s)
      AC112651, AL549736, BC075030, BQ184961, J04964, M16505
      Consensus CDS
      CCDS14127.1
      UniProtKB/Swiss-Prot
      P08842
      Related
      ENSP00000217961, OTTHUMP00000022868, ENST00000217961, OTTHUMT00000055686
      Conserved Domains (3) summary
      COG3119
      Location:23548
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      pfam00884
      Location:27413
      Sulfatase; Sulfatase
      pfam14707
      Location:437572
      Sulfatase_C; C-terminal region of aryl-sulfatase
    2. NM_001320750.1NP_001307679.1  steryl-sulfatase isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate promoter, contains two alternate 5' exons, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (2) is longer with a distinct N-terminus compared to isoform 1. This variant is expressed in most tissues tested. Variants 2, 3 and 4 encode the same isoform.
      Source sequence(s)
      AC112651, AM282551, BC075030, BQ184961, DA327298, J04964, M16505
      UniProtKB/Swiss-Prot
      P08842
      UniProtKB/TrEMBL
      Q0W975
      Conserved Domains (3) summary
      COG3119
      Location:30555
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      pfam00884
      Location:34420
      Sulfatase; Sulfatase
      pfam14707
      Location:444579
      Sulfatase_C; C-terminal region of aryl-sulfatase
    3. NM_001320751.1NP_001307680.1  steryl-sulfatase isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate promoter, contains three alternate 5' exons, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (2) is longer with a distinct N-terminus compared to isoform 1. Variants 2, 3 and 4 encode the same isoform.
      Source sequence(s)
      AC112651, AM072428, BC075030, BQ184961, DA406759, FM209047, J04964, M16505
      UniProtKB/Swiss-Prot
      P08842
      UniProtKB/TrEMBL
      Q0W975
      Conserved Domains (3) summary
      COG3119
      Location:30555
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      pfam00884
      Location:34420
      Sulfatase; Sulfatase
      pfam14707
      Location:444579
      Sulfatase_C; C-terminal region of aryl-sulfatase
    4. NM_001320752.1NP_001307681.1  steryl-sulfatase isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate promoter, contains two alternate 5' exons, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (2) is longer with a distinct N-terminus compared to isoform 1. This variant is ubiquitously expressed. Variants 2, 3 and 4 encode the same isoform.
      Source sequence(s)
      AC112651, AM072428, BC075030, BQ184961, DA406759, J04964, M16505
      UniProtKB/Swiss-Prot
      P08842
      UniProtKB/TrEMBL
      Q0W975
      Conserved Domains (3) summary
      COG3119
      Location:30555
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      pfam00884
      Location:34420
      Sulfatase; Sulfatase
      pfam14707
      Location:444579
      Sulfatase_C; C-terminal region of aryl-sulfatase
    5. NM_001320753.1NP_001307682.1  steryl-sulfatase isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate promoter, contains an alternate 5' exon, and initiates translation from an in-frame, downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1. Variants 5 and 6 encode the same isoform.
      Source sequence(s)
      AC112651, AM282553, BC075030, BQ184961, J04964, M16505
      UniProtKB/Swiss-Prot
      P08842
      UniProtKB/TrEMBL
      A6PYA4
      Conserved Domains (3) summary
      COG3119
      Location:18543
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      pfam00884
      Location:22408
      Sulfatase; Sulfatase
      pfam14707
      Location:432567
      Sulfatase_C; C-terminal region of aryl-sulfatase
    6. NM_001320754.1NP_001307683.1  steryl-sulfatase isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate promoter, contains an alternate 5' exon, and initiates translation from an in-frame, downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1. Variants 5 and 6 encode the same isoform.
      Source sequence(s)
      AC112651, AM282554, BC075030, BQ184961, J04964, M16505
      UniProtKB/Swiss-Prot
      P08842
      UniProtKB/TrEMBL
      A6PYA4
      Conserved Domains (3) summary
      COG3119
      Location:18543
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      pfam00884
      Location:22408
      Sulfatase; Sulfatase
      pfam14707
      Location:432567
      Sulfatase_C; C-terminal region of aryl-sulfatase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      7147252..7354643
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      7096353..7303668
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)