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FLASH GENE

Symbol

SUMF1

contributors: mct/npt - updated : 22/10/2008

HGNC name	sulfatase modifying factor 1
HGNC id	20376

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MSD multiple sulfatase deficiency
Location	3p26.2      Physical location : 4.402.828 - 4.508.966
Synonym name	C-alpha-formyglycine-generating enzyme
Synonym symbol(s)	FGE, DUF323, UNQ3037, AAPA3037, MGC131853, MGC150436
EC.number	1.13.-.-

DNA

TYPE	functioning gene
STRUCTURE	106.12 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 9 - 2148 40.4 374 - Fraldi (2008)

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 intestine small intestine     highly   liver         Lymphoid/Immune spleen       highly Skin/Tegument skin       highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol   fibroblast

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	39 AA signal sequence
	a single domain with three highly conserved subdomains spaced by nonconserved sequences of variable lengths
	an N-terminal (residues 86-168) and a C-terminal (residues 178-374) protease-resistant domain
	the latter is stabilized by three disulfide bridges arranged in a clamp-like manner, which links the third to the eighth, the fourth to the seventh, and the fifth to the sixth cysteine residue

conjugated

GlycoP

mono polymer

monomer

HOMOLOGY

interspecies	ortholog to murine Sumf1
	homolog to chimpanzee LOC470739

Homologene

FAMILY

sulfatase-modifying factor family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	largely retained in the endoplasmic reticulum (ER), where it exerts its enzymatic activity on nascent sulfatases

basic FUNCTION	activates sulfatases by modifying a key cysteine residue within their catalytic domain
	representing both an essential and a limiting factor for sulfatases
	converting newly synthesized inactive sulfatases to their active form by modifying an active site cysteine
	residue to 3- oxoalanine
	calcium-binding protein, sufficient to modify all sulfatases of the same species
	displays an enhancing effect on sulfatases activity when co-delivered with a sulfatase cDNA via AAV (adeno-associated virus) and LV (lentivirus) vectors in cells from individuals affected by five different diseases owing to sulfatase deficiencies (Fraldi 2007)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein	binding to concanavalin A
	substrates include GALNS, ARSA, STS and ARSE
	interacts with protein disulfide isomerase (PDIA2) and TXNDC4, two thioredoxin family members residing in the early secretory pathway, and with LMAN1, a lectin that shuttles between the ER and the Golgi (provide a novel, dynamic control of SUMF1 trafficking and enzymatic activity)

cell & other

REGULATION

Other

multistep control of SUMF1 trafficking, with sequential interactions dynamically determining ER localization, activity and secretion

ASSOCIATED DISORDERS

corresponding disease(s)

MSD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS