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

Gene ID: 412, updated on 26-Aug-2014
Official Symbol
STSprovided by HGNC
Official Full Name
steroid sulfatase (microsomal), isozyme Sprovided by HGNC
Primary source
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
The protein encoded by this gene catalyzes the conversion of sulfated steroid precursors to estrogens during pregnancy. The encoded protein is found in the endoplasmic reticulum, where it acts as a homodimer. Mutations in this gene are known to cause X-linked ichthyosis (XLI). [provided by RefSeq, Jul 2008]
Location:
Xp22.32
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (7147893..7354641)
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 uncharacterized LOC101928246 Neighboring gene ribosomal protein S27a pseudogene 17 Neighboring gene haloacid dehalogenase-like hydrolase domain containing 1 Neighboring gene microRNA 4767 Neighboring gene variable charge, X-linked Neighboring gene patatin-like phospholipase domain containing 4

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)

ISCA Genome Curation Page
Haploinsufficency

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

ISCA Genome Curation PagePubMed
  • Estrogen metabolism, organism-specific biosystem (from WikiPathways)
    Estrogen metabolism, organism-specific biosystem
    Estrogen metabolism
  • 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.
  • PTM: gamma carboxylation, hypusine formation and arylsulfatase activation, organism-specific biosystem (from REACTOME)
    PTM: 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...
  • 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
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
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
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
sphingolipid 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 
Preferred Names
steryl-sulfatase
Names
steryl-sulfatase
arylsulfatase C
estrone sulfatase
steryl-sulfate sulfohydrolase
NP_000342.2

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_021472.1 

    Range
    5001..140211
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000351.4NP_000342.2  steryl-sulfatase precursor

    See proteins identical to NP_000342.2

    Status: REVIEWED

    Source sequence(s)
    AC005704, AC112651, BC075030
    Consensus CDS
    CCDS14127.1
    UniProtKB/Swiss-Prot
    P08842
    Related
    ENSP00000217961, OTTHUMP00000022868, ENST00000217961, OTTHUMT00000055686
    Conserved Domains (3) summary
    COG3119
    Location:23548
    Blast Score: 651
    AslA; Arylsulfatase A and related enzymes [Inorganic ion transport and metabolism]
    pfam00884
    Location:27413
    Blast Score: 515
    Sulfatase; Sulfatase
    pfam14707
    Location:437572
    Blast Score: 477
    Sulfatase_C; C-terminal region of aryl-sulfatase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    7147893..7354641
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005274511.1XP_005274568.1  

    See proteins identical to XP_005274568.1

    Conserved Domains (3) summary
    COG3119
    Location:30555
    Blast Score: 653
    AslA; Arylsulfatase A and related enzymes [Inorganic ion transport and metabolism]
    pfam00884
    Location:34420
    Blast Score: 515
    Sulfatase; Sulfatase
    pfam14707
    Location:444579
    Blast Score: 479
    Sulfatase_C; C-terminal region of aryl-sulfatase
  2. XM_006724488.1XP_006724551.1  

    See proteins identical to XP_006724551.1

    Conserved Domains (3) summary
    COG3119
    Location:30555
    Blast Score: 653
    AslA; Arylsulfatase A and related enzymes [Inorganic ion transport and metabolism]
    pfam00884
    Location:34420
    Blast Score: 515
    Sulfatase; Sulfatase
    pfam14707
    Location:444579
    Blast Score: 479
    Sulfatase_C; C-terminal region of aryl-sulfatase

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    4994733..5130162
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    7168567..7303666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)