U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    STS steroid sulfatase [ Homo sapiens (human) ]

    Gene ID: 412, updated on 23-Nov-2023

    Summary

    Official Symbol
    STSprovided by HGNC
    Official Full Name
    steroid sulfataseprovided by HGNC
    Primary source
    HGNC:HGNC:11425
    See related
    Ensembl:ENSG00000101846 MIM:300747; AllianceGenome:HGNC:11425
    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]
    Expression
    Broad expression in placenta (RPKM 15.1), fat (RPKM 11.7) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See STS in Genome Data Viewer
    Location:
    Xp22.31
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (7147290..7354641)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (6701075..6908316)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (7065331..7272682)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene pseudouridine 5'-phosphatase Neighboring gene uncharacterized LOC107987331 Neighboring gene RPS27A pseudogene 17 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:6975911-6976411 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:6986912-6987412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:7000180-7000680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:7000681-7001181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:7033895-7034396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:7034397-7034896 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20649 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29389 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29391 Neighboring gene microRNA 4767 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:7154725-7155349 Neighboring gene Sharpr-MPRA regulatory region 5189 Neighboring gene NANOG hESC enhancer GRCh37_chrX:7208639-7209140 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:7290864-7292063 Neighboring gene NANOG hESC enhancer GRCh37_chrX:7366971-7367514 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:7510918-7511520 Neighboring gene uncharacterized LOC124905241 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:7682068-7682794 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:7682795-7683521 Neighboring gene variable charge X-linked

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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 2018-09-13)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2018-09-13)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables arylsulfatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables steryl-sulfatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables sulfuric ester hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in steroid catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in endosome TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in lysosome TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    steryl-sulfatase
    Names
    arylsulfatase C
    estrone sulfatase
    steroid sulfatase (microsomal), isozyme S
    steryl-sulfate sulfohydrolase
    NP_000342.3
    NP_001307679.1
    NP_001307680.1
    NP_001307681.2
    NP_001307682.1
    NP_001307683.1
    XP_047298063.1
    XP_054183043.1

    NCBI Reference Sequences (RefSeq)

    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_021472.2 RefSeqGene

      Range
      5461..212390
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000351.7NP_000342.3  steryl-sulfatase isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. It is expressed almost exclusively in the placenta. Variants 1 and 4 encode the same isoform.
      Source sequence(s)
      AC005704, AC112651, BC075030
      Consensus CDS
      CCDS14127.2
      UniProtKB/Swiss-Prot
      B2RA47, P08842
      UniProtKB/TrEMBL
      A0A590UJL0, A0A6I8PRU4
      Related
      ENSP00000217961.5, ENST00000217961.5
      Conserved Domains (1) summary
      cd16159
      Location:21545
      ES; Estrone sulfatase
    2. NM_001320750.3NP_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
      B2RA47, P08842
      Conserved Domains (2) summary
      COG3119
      Location:30555
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16159
      Location:33557
      ES; Estrone sulfatase
    3. NM_001320751.2NP_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)
      AC073583, AC112651, AM072428, BC075030, BQ184961, DA406759, FM209047, J04964, M16505
      UniProtKB/Swiss-Prot
      B2RA47, P08842
      Conserved Domains (2) summary
      COG3119
      Location:30555
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16159
      Location:33557
      ES; Estrone sulfatase
    4. NM_001320752.2NP_001307681.2  steryl-sulfatase isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate promoter and differs in the 5' UTR, compared to variant 1. Variants 1 and 4 encode the same isoform.
      Source sequence(s)
      AC005704, AC073583, AC112651, BX119415, BX390437, DA726770, DA855321
      Consensus CDS
      CCDS14127.2
      UniProtKB/Swiss-Prot
      B2RA47, P08842
      UniProtKB/TrEMBL
      A0A590UJL0, A0A6I8PRU4
      Related
      ENSP00000501534.1, ENST00000674429.1
      Conserved Domains (1) summary
      cd16159
      Location:21545
      ES; Estrone sulfatase
    5. NM_001320753.2NP_001307682.1  steryl-sulfatase isoform 1 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
      Consensus CDS
      CCDS14127.2
      UniProtKB/Swiss-Prot
      B2RA47, P08842
      UniProtKB/TrEMBL
      A0A590UJL0, A0A6I8PRU4
      Conserved Domains (1) summary
      cd16159
      Location:21545
      ES; Estrone sulfatase
    6. NM_001320754.2NP_001307683.1  steryl-sulfatase isoform 1 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
      Consensus CDS
      CCDS14127.2
      UniProtKB/Swiss-Prot
      B2RA47, P08842
      UniProtKB/TrEMBL
      A0A590UJL0, A0A6I8PRU4
      Conserved Domains (1) summary
      cd16159
      Location:21545
      ES; Estrone sulfatase

    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
      7147290..7354641
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442107.1XP_047298063.1  steryl-sulfatase isoform X1

      UniProtKB/Swiss-Prot
      B2RA47, P08842
      UniProtKB/TrEMBL
      A0A590UJL0, A0A6I8PRU4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      6701075..6908316
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327068.1XP_054183043.1  steryl-sulfatase isoform X1

      UniProtKB/Swiss-Prot
      B2RA47, P08842
      UniProtKB/TrEMBL
      A0A590UJL0, A0A6I8PRU4