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FLASH GENE

Symbol

ARSB

contributors: mct/npt - updated : 28-08-2009

HGNC name	arylsulfatase B
HGNC id	714

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MPS6 mucopolysaccharidosis, type VI
Location	5q14.1      Physical location : 78.073.038 - 78.282.357
Synonym name	N-acetylgalactosamine-4-sulfate sulfatase
Synonym symbol(s)	ASB, G4S
EC.number	3.1.6.12

DNA

TYPE	functioning gene
STRUCTURE	209.32 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000046 8 - 6076 NP_000037 59 533 - Petry, Bhattacharyya (2008) NM_198709 8 - 2172 NP_942002 - 413 - Petry, Bhattacharyya (2008) has an alternate 3' sequence

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 Digestive liver         Lymphoid/Immune lymph node           spleen       highly Reproductive female system breast mammary gland   highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal 43kDa
	two C ter fragments 78kDa, linked by disulfide bonds

mono polymer

monomer

isoforms

Precursor

HOMOLOGY

interspecies

homolog to murine Arsb

Homologene

FAMILY

sulfatase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,lysosome
text	with ARSA exist on the cell surface of sinusoidal endothelial cells, hepatocytes, and sinusoidal macrophages (Kupffer cells), as well as in the lysosome (Mitsunaga-Nakatsubo 2009)

basic FUNCTION	removes 4-sulfate groups from N-acetylgalactosamine 4-sulfate, which combines with glucuronate to form the disaccharide unit of chondroitin-4-sulfate (C4S) (Bhattacharyya 2009)
	having potential vital role, due to its impact on chondroitin sulfation, on determination of the invasive phenotype of colonic epithelial cells (Bhattacharyya 2009)
	acting on dermatan sulfate
	catalyzing the third step of degradation of glucosaminoglycans (mucopolysaccharides)
	involved in the regulation of protein degradation, apoptosis, neuronal loss and neurodevelopment

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

regulation of CHST11 expression by opposing effects of arylsulfatase B on BMP4 and WNT9A

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MPS6

related resource

Mucopolysaccharidosis

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

rat MPS-VI model, feline, murine