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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]
STS (Steroid Sulfatase) is a Protein Coding gene. Diseases associated with STS include Ichthyosis, X-Linked and Ichthyosis. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Androstenedione and testosterone biosynthesis and metabolism p.1. Gene Ontology (GO) annotations related to this gene include sulfuric ester hydrolase activity and steryl-sulfatase activity. An important paralog of this gene is ARSL.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH0XJ007145 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 250.7 | +0.1 | 93 | 3.8 | TBP BCL11A SMAD5 NONO THAP11 CEBPB SIN3A MAX VEZF1 TRIM22 | PUDP HSALNG0136525 MIR4767 STS | |
GH0XJ007218 | Promoter/Enhancer | 0.9 | EPDnew Ensembl ENCODE | 250.2 | +72.2 | 72180 | 2.1 | CEBPA TCF7L2 CEBPG TEAD1 | STS PUDP RF00017-8139 HSALNG0136526 HSALNG0136525 VCX | |
GH0XJ007269 | Enhancer | 0.6 | Ensembl ENCODE | 11.7 | +124.1 | 124064 | 6.2 | SPI1 PKNOX1 HLF CEBPB | STS PUDP HSALNG0136526 RF00017-8140 VCX | |
GH0XJ007082 | Enhancer | 0.9 | ENCODE dbSUPER | 4.9 | -63.5 | -63468 | 2 | BCL11A IRF4 TRIM22 EBF1 SMARCA5 CBFB SPI1 BHLHE40 BATF POLR2A | PUDP STS HSALNG0136523 piR-53338-139 VCX3A | |
GH0XJ007251 | Enhancer | 0.6 | Ensembl ENCODE | 6.3 | +105.6 | 105563 | 4.4 | RAD21 SP1 YY1 CEBPG | PUDP STS HSALNG0136526 RF00017-8139 HSALNG0136525 VCX |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0004065 | arylsulfatase activity | IBA | 21873635 |
GO:0004773 | steryl-sulfatase activity | TAS,IEA | -- |
GO:0008484 | sulfuric ester hydrolase activity | IEA,IDA | 15962010 |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005764 | lysosome | TAS | 2668275 |
GO:0005768 | endosome | TAS | 2668275 |
GO:0005783 | endoplasmic reticulum | TAS | 2668275 |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Gamma carboxylation, hypusine formation and arylsulfatase activation | ||
2 | Sphingolipid metabolism | ||
3 | Metabolism |
.40
|
|
4 | Metabolism of proteins | ||
5 | Androstenedione and testosterone biosynthesis and metabolism p.1 |
Androstenedione and testosterone biosynthesis and metabolism p.1
.57
|
Estrone metabolism
.57
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006687 | glycosphingolipid metabolic process | TAS | -- |
GO:0006706 | steroid catabolic process | TAS | 6957717 |
GO:0007565 | female pregnancy | IEA | -- |
GO:0008202 | steroid metabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Norelgestromin | Approved, Investigational | Pharma | Enzyme, inhibitor | 25 | ||
Tibolone | Approved, Investigational | Pharma | Enzyme, inhibitor | 24 | ||
Tyrosine | Approved, Investigational | Nutra | 1128 | |||
cholesterol | Approved, Investigational | Pharma | 0 | |||
Estrone | Approved | Pharma | Estrogenic hormone | 24 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
3beta-Hydroxypregn-5-en-20-one sulfate |
|
|
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Androsterone sulfate |
|
2479-86-9 |
|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | STS 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | STS 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | STS 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | STS 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sts 30 |
|
||
Chicken (Gallus gallus) |
Aves | STS 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | STS 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sts 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.32728 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sts 30 31 |
|
OneToOne | |
sec61a 30 |
|
||||
Worm (Caenorhabditis elegans) |
Secernentea | sul-2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
931008 | Uncertain Significance: X-linked ichthyosis with steryl-sulfatase deficiency | 7,325,321(+) |
T/C NM_001320752.2(STS):c.1082-18T>C |
INTRON | |
rs1064795456 | Likely Pathogenic: not provided | 7,325,371(+) |
C/T NM_000351.6(STS):c.1129C>T (p.Arg377Trp) |
MISSENSE | |
rs137853165 | Pathogenic: X-linked ichthyosis with steryl-sulfatase deficiency. Ichthyosis, X-linked (IXL) [MIM:308100] | 7,325,356(+) |
T/Ap.Trp372Arg NM_000351.6(STS):c.1114T>A (p.Trp372Arg) |
MISSENSE | |
rs137853166 | Pathogenic: X-linked ichthyosis with steryl-sulfatase deficiency. Ichthyosis, X-linked (IXL) [MIM:308100] | 7,334,066(+) |
G/Ap.Cys446Tyr NM_000351.6(STS):c.1337G>A (p.Cys446Tyr) |
MISSENSE | |
rs137853167 | Pathogenic: X-linked ichthyosis with steryl-sulfatase deficiency; not provided. Ichthyosis, X-linked (IXL) [MIM:308100] | 7,305,109(+) |
C/Tp.Ser341Leu NM_000351.6(STS):c.1022C>T (p.Ser341Leu) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2657313 | CNV | deletion | 23128226 |
esv2678334 | CNV | deletion | 23128226 |
esv2758858 | CNV | loss | 17122850 |
esv3573512 | CNV | loss | 25503493 |
esv3573513 | CNV | loss | 25503493 |
esv3576757 | CNV | gain | 25503493 |
nsv9931 | CNV | gain | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ichthyosis, x-linked |
|
|
ichthyosis |
|
|
ichthyosis vulgaris |
|
|
smith-lemli-opitz syndrome |
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|
chondrodysplasia punctata syndrome |
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