Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 412
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol STS   Gene   UCSC   Ensembl
Aliases ARSC, ARSC1, ASC, ES, SSDD, XLI
Gene name steroid sulfatase
Alternate names steryl-sulfatase, arylsulfatase C, estrone sulfatase, steroid sulfatase (microsomal), isozyme S, steryl-sulfate sulfohydrolase,
Gene location Xp22.31 (7147251: 7354642)     Exons: 16     NC_000023.11
Gene summary(Entrez) 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]
OMIM 300747

Protein Summary

Protein general information P08842  

Name: Steryl sulfatase (EC 3.1.6.2) (Arylsulfatase C) (ASC) (Steroid sulfatase) (Steryl sulfate sulfohydrolase)

Length: 583  Mass: 65,492

Sequence MPLRKMKIPFLLLFFLWEAESHAASRPNIILVMADDLGIGDPGCYGNKTIRTPNIDRLASGGVKLTQHLAASPLC
TPSRAAFMTGRYPVRSGMASWSRTGVFLFTASSGGLPTDEITFAKLLKDQGYSTALIGKWHLGMSCHSKTDFCHH
PLHHGFNYFYGISLTNLRDCKPGEGSVFTTGFKRLVFLPLQIVGVTLLTLAALNCLGLLHVPLGVFFSLLFLAAL
ILTLFLGFLHYFRPLNCFMMRNYEIIQQPMSYDNLTQRLTVEAAQFIQRNTETPFLLVLSYLHVHTALFSSKDFA
GKSQHGVYGDAVEEMDWSVGQILNLLDELRLANDTLIYFTSDQGAHVEEVSSKGEIHGGSNGIYKGGKANNWEGG
IRVPGILRWPRVIQAGQKIDEPTSNMDIFPTVAKLAGAPLPEDRIIDGRDLMPLLEGKSQRSDHEFLFHYCNAYL
NAVRWHPQNSTSIWKAFFFTPNFNPVGSNGCFATHVCFCFGSYVTHHDPPLLFDISKDPRERNPLTPASEPRFYE
ILKVMQEAADRHTQTLPEVPDQFSWNNFLWKPWLQLCCPSTGLSCQCDREKQDKRLSR
Structural information
Interpro:  IPR017849 IPR017850 IPR024607 IPR000917
Prosite:   PS00523 PS00149

Pfam:  
PF00884

PDB:  
1P49
PDBsum:   1P49
MINT:   1177440
STRING:   ENSP00000217961;
Other Databases GeneCards:  STS;  Malacards:  STS

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004773 steryl-sulfatase activity
TAS molecular_function
GO:0005635 nuclear envelope
IEA cellular_component
GO:0005764 lysosome
TAS cellular_component
GO:0005768 endosome
TAS cellular_component
GO:0005783 endoplasmic reticulum
TAS cellular_component
GO:0005788 endoplasmic reticulum lum
en
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005794 Golgi apparatus
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006687 glycosphingolipid metabol
ic process
TAS biological_process
GO:0006706 steroid catabolic process
TAS biological_process
GO:0007565 female pregnancy
IEA biological_process
GO:0007611 learning or memory
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IEA biological_process
GO:0008484 sulfuric ester hydrolase
activity
IDA molecular_function
GO:0008544 epidermis development
TAS biological_process
GO:0009268 response to pH
IEA biological_process
GO:0016020 membrane
TAS cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0043231 intracellular membrane-bo
unded organelle
TAS cellular_component
GO:0043434 response to peptide hormo
ne
IEA biological_process
GO:0043588 skin development
IEA biological_process
GO:0043627 response to estrogen
IEA biological_process
GO:0043687 post-translational protei
n modification
TAS biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0003824 catalytic activity
IEA molecular_function
GO:0004773 steryl-sulfatase activity
IEA molecular_function
GO:0004773 steryl-sulfatase activity
IEA molecular_function
GO:0004773 steryl-sulfatase activity
TAS molecular_function
GO:0004773 steryl-sulfatase activity
TAS molecular_function
GO:0005635 nuclear envelope
IEA cellular_component
GO:0005764 lysosome
TAS cellular_component
GO:0005768 endosome
TAS cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005783 endoplasmic reticulum
TAS cellular_component
GO:0005788 endoplasmic reticulum lum
en
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
IEA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
IEA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005794 Golgi apparatus
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006629 lipid metabolic process
IEA biological_process
GO:0006687 glycosphingolipid metabol
ic process
TAS biological_process
GO:0006706 steroid catabolic process
TAS biological_process
GO:0007565 female pregnancy
IEA biological_process
GO:0007611 learning or memory
IEA biological_process
GO:0008152 metabolic process
IEA biological_process
GO:0008202 steroid metabolic process
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IEA biological_process
GO:0008484 sulfuric ester hydrolase
activity
IEA molecular_function
GO:0008484 sulfuric ester hydrolase
activity
IDA molecular_function
GO:0008544 epidermis development
TAS biological_process
GO:0009268 response to pH
IEA biological_process
GO:0014070 response to organic cycli
c compound
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
TAS cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016787 hydrolase activity
IEA molecular_function
GO:0043231 intracellular membrane-bo
unded organelle
IEA cellular_component
GO:0043231 intracellular membrane-bo
unded organelle
TAS cellular_component
GO:0043434 response to peptide hormo
ne
IEA biological_process
GO:0043588 skin development
IEA biological_process
GO:0043627 response to estrogen
IEA biological_process
GO:0043687 post-translational protei
n modification
TAS biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0004773 steryl-sulfatase activity
TAS molecular_function
GO:0004773 steryl-sulfatase activity
TAS molecular_function
GO:0005764 lysosome
TAS cellular_component
GO:0005768 endosome
TAS cellular_component
GO:0005783 endoplasmic reticulum
TAS cellular_component
GO:0005788 endoplasmic reticulum lum
en
TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
TAS cellular_component
GO:0005794 Golgi apparatus
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0006687 glycosphingolipid metabol
ic process
TAS biological_process
GO:0006706 steroid catabolic process
TAS biological_process
GO:0008484 sulfuric ester hydrolase
activity
IDA molecular_function
GO:0008544 epidermis development
TAS biological_process
GO:0016020 membrane
TAS cellular_component
GO:0043231 intracellular membrane-bo
unded organelle
TAS cellular_component
GO:0043687 post-translational protei
n modification
TAS biological_process

KEGG pathways

hsa00140  Steroid hormone biosynthesis
hsa00140  Steroid hormone biosynthesis

Diseases

Associated diseases References
Endometrial cancer PMID: 18450955
Endometriosis PMID: 16084891
Ichthyosis KEGG: H00134, OMIM: 300747
Female infertility INFBASE16084891
Endometriosis INFBASE16084891
Polycystic ovary syndrome (PCOS) PMID: 17426092
Ichthyosis, X-linked OMIM300747
X-linked ichthyosis KEGGH00134

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
24012197 Endometrio
sis

120 (41 disease
- free patients
, 79 patients w
ith endometrios
is)

Show abstract
16084891 Endometrio
sis

67 (35 cases co
mplicated by en
dometriosis, 16
PCOS cases, 16
cases of laten
t hyperprolacti
nemia )
Female infertility STS
Show abstract
17454161 Endometrio
sis

25 (16 samples
of ovarian endo
metriosis, 9 of
normal endomet
rium)
Aromatase
17beta-HSD types 1
17beta-HSD types 7
sulfatase
Erbeta
Eralpha
Show abstract