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FLASH GENE

Symbol

STS

contributors: mct/npt - updated : 27-01-2010

HGNC name	steroid sulfatase (microsomal), isozyme S
HGNC id	11425

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DELXPM chromosome Xp terminal deletion in males SSDI X-linked ichthyosis
Location	Xp22.31      Physical location : 7.137.471 - 7.272.680
Synonym name	arylsulfatase
	estrone sulfatase
	steryl-sulfate sulfohydrolase
	steroid sulfatase (microsomal), arylsulfatase C, isozyme S
	arylsulfatase C
	estrone sulfatase
Synonym symbol(s)	ARSC1, SSDD, ARSC, ASC, ES, XLI
EC.number	3.1.6.2

DNA

TYPE	functioning gene
SPECIAL FEATURE
text	X-linked, escaping inactivation
	flanked in both sides by a repetitive sequence CRI-S232 which includes a VCX sequence
STRUCTURE	135.21 kb     10 Exon(s)    1 Copie(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	see CDPX1 , PRPS2 , KAL1 KAL1

RNA

TRANSCRIPTS	type	messenger

text	STS expression, in different human tissues, could be regulated by at least six different promoters associated with alternative first exon (Nardi 2009)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000351 10 - 6377 NP_000342 - 583 - Valle (2007)

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine adrenal gland         Reproductive female system placenta     highly   female system ovary         male system testis       Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

trypsin domain

mono polymer

homomer , dimer

HOMOLOGY

Homologene

FAMILY

sulfatase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic,microsome
	intracellular,nuclear envelope
text	membrane-bound microsomal (Valle 2007)

basic FUNCTION	desulphating a number of 3beta-hydroxysteroid sulphates
	catalyzing the conversion of sulfated steroid precursors to estrogens during pregnancy
	playing a crucial role in the intra-mitochondrial movement of cholesterol
	may play a role in susceptibility for attention deficit hyperactivity disorder (Brookes 2008)
	membrane-bound microsomal enzyme that hydrolyzes various alkyl and aryl steroid sulfates (Nardi 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	binds 1 calcium ion per subunit

protein

increasing STAR protein expression level and stimulating steroid production

cell & other

REGULATION

activated by

thyroid hormones

ASSOCIATED DISORDERS

corresponding disease(s)

SSDI , DELXPM

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in endometrial carcinomas

Susceptibility

to attention deficit hyperactivity disorder (Brookes 2008)

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS