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STS steroid sulfatase [ Homo sapiens (human) ]

Gene ID: 412, updated on 8-Dec-2018

Summary

Official Symbol
STSprovided by HGNC
Official Full Name
steroid sulfataseprovided by HGNC
Primary source
HGNC:HGNC:11425
See related
Ensembl:ENSG00000101846 MIM:300747
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

Genomic context

See STS in Genome Data Viewer
Location:
Xp22.31
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 FunctionsWhat'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 BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
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 
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_000342.2
NP_001307679.1
NP_001307680.1
NP_001307681.1
NP_001307682.1
NP_001307683.1

NCBI Reference Sequences (RefSeq)

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
    ENSP00000217961.4, ENST00000217961.4
    Conserved Domains (1) summary
    cd16159
    Location:26550
    ES; Estrone 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 (2) summary
    COG3119
    Location:30555
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cd16159
    Location:33557
    ES; Estrone sulfatase
  3. NM_001320751.1NP_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 (2) summary
    COG3119
    Location:30555
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cd16159
    Location:33557
    ES; Estrone sulfatase
  4. NM_001320752.1NP_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 (2) summary
    COG3119
    Location:30555
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cd16159
    Location:33557
    ES; Estrone 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 (2) summary
    COG3119
    Location:18543
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cd16159
    Location:21545
    ES; Estrone 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 (2) summary
    COG3119
    Location:18543
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cd16159
    Location:21545
    ES; Estrone sulfatase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

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