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    STS steroid sulfatase [ Homo sapiens (human) ]

    Gene ID: 412, updated on 27-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See STS in Genome Data Viewer
    Location:
    Xp22.31
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (7147290..7354641)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (6701075..6908316)
    RS_2024_09 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

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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. Polymorphisms of the steroid sulfatase (STS) gene are associated with attention deficit hyperactivity disorder and influence brain tissue mRNA expression. Brookes KJ, et al. Am J Med Genet B Neuropsychiatr Genet, 2010 Dec 5. PMID 20862695, Free PMC Article
    2. Novel point mutations in the steroid sulfatase gene in patients with X-linked ichthyosis: transfection analysis using the mutated genes. Oyama N, et al. J Invest Dermatol, 2000 Jun. PMID 10844566
    3. Atypical X-linked ichthyosis in a patient with a large deletion involving the steroid sulfatase (STS) gene. Gonzalez-Huerta L, et al. Int J Dermatol, 2009 Feb. PMID 19200188
    4. Transcriptional control of human steroid sulfatase. Nardi A, et al. J Steroid Biochem Mol Biol, 2009 May. PMID 19429462
    5. Mutation report: a novel partial deletion of exons 2-10 of the STS gene in recessive X-linked ichthyosis. Valdes-Flores M, et al. J Invest Dermatol, 2000 Mar. PMID 10692123

    See all (120) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review.
      Title: STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review.
    2. Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin.
      Title: Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin.
    3. Structure of human placental steroid sulfatase at 2.0 angstrom resolution: Catalysis, quaternary association, and a secondary ligand site.
      Title: Structure of human placental steroid sulfatase at 2.0 angstrom resolution: Catalysis, quaternary association, and a secondary ligand site.
    4. Steroid sulfatase deficiency causes cellular senescence and abnormal differentiation by inducing Yippee-like 3 expression in human keratinocytes.
      Title: Steroid sulfatase deficiency causes cellular senescence and abnormal differentiation by inducing Yippee-like 3 expression in human keratinocytes.
    5. A novel STS mutation and an Xp22.31 microdeletion in a Chinese family with X-linked ichthyosis.
      Title: A novel STS mutation and an Xp22.31 microdeletion in a Chinese family with X-linked ichthyosis.
    6. Steroid Sulfatase Stimulates Intracrine Androgen Synthesis and is a Therapeutic Target for Advanced Prostate Cancer.
      Title: Steroid Sulfatase Stimulates Intracrine Androgen Synthesis and is a Therapeutic Target for Advanced Prostate Cancer.
    7. Testicular steroid sulfatase overexpression is associated with Leydig cell dysfunction in primary spermatogenic failure.
      Title: Testicular steroid sulfatase overexpression is associated with Leydig cell dysfunction in primary spermatogenic failure.
    8. Lead optimization of 4-(thio)-chromenone 6-O-sulfamate analogs using QSAR, molecular docking and DFT - a combined approach as steroidal sulfatase inhibitors.
      Title: Lead optimization of 4-(thio)-chromenone 6-O-sulfamate analogs using QSAR, molecular docking and DFT - a combined approach as steroidal sulfatase inhibitors.
    9. Medical and neurobehavioural phenotypes in male and female carriers of Xp22.31 duplications in the UK Biobank.
      Title: Medical and neurobehavioural phenotypes in male and female carriers of Xp22.31 duplications in the UK Biobank.
    10. Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank.
      Title: Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank.
    Submit: New GeneRIF Correction See all GeneRIFs (87)

    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 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

    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

    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

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    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)

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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_021472.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000351.7 → NP_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:21 → 545
      ES; Estrone sulfatase

    2. NM_001320750.3 → NP_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:30 → 555
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16159
      Location:33 → 557
      ES; Estrone sulfatase

    3. NM_001320751.2 → NP_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:30 → 555
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16159
      Location:33 → 557
      ES; Estrone sulfatase

    4. NM_001320752.2 → NP_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:21 → 545
      ES; Estrone sulfatase

    5. NM_001320753.2 → NP_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:21 → 545
      ES; Estrone sulfatase

    6. NM_001320754.2 → NP_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:21 → 545
      ES; Estrone sulfatase

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

    mRNA and Protein(s)

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

      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_054327068.1 → XP_054183043.1  steryl-sulfatase isoform X1

      UniProtKB/TrEMBL
      A0A590UJL0, A0A6I8PRU4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P08842.2 GenPept UniProtKB/Swiss-Prot:P08842

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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