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STS steroid sulfatase [ Homo sapiens (human) ]

Gene ID: 412, updated on 1-Jun-2020

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
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (7147290..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 pseudouridine 5'-phosphatase Neighboring gene uncharacterized LOC107987331 Neighboring gene RPS27A pseudogene 17 Neighboring gene Sharpr-MPRA regulatory region 5189 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 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
arylsulfatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
steryl-sulfatase activity IEA
Inferred from Electronic Annotation
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_000342.3
NP_001307679.1
NP_001307680.1
NP_001307681.2
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
    77205..212559
    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
    CCDS14127.1
    Related
    ENSP00000217961.4, ENST00000217961.4
  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
    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_001320751.2NP_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
    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_001320752.2NP_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
    Related
    ENSP00000501534.1, ENST00000674429.1
  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
    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_001320754.2NP_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
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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