Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

ACSF3

contributors: mct - updated : 12-09-2012

HGNC name	acyl-CoA synthetase family member 3
HGNC id	27288

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMAMMA combined malonic and methylmalonic aciduria
Location	16q24.3      Physical location : 89.160.253 - 89.222.169
Synonym name	acyl-CoA synthetase family member 3, mitochondrial
	LOC197322 protein
Synonym symbol(s)	PSEC0197, FLJ39242
EC.number	6.2.1.-

DNA

TYPE	functioning gene
STRUCTURE	61.95 kb     11 Exon(s)

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_174917 11 splicing 3664 NP_777577 65 576 - 2011 21846720 including an alternate exon in the 5' UTR encoding the same protein than variant 2 NM_001127214 10 splicing 3495 NP_001120686 65 576 - 2011 21846720 omiting an alternate exon in the 5' UTR encoding the same protein than variant 1 NM_001243279 11 - 3668 NP_001230208 65 576 - 2011 21846720

EXPRESSION

Type

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 Cardiovascular heart       moderately Lymphoid/Immune lymph node       highly   thymus       highly   tonsils       predominantly Nervous nerve       moderately

cell lineage
cell lines
fluid/secretion	moderately in blood and highly in lymph

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a predicted N-terminal mitochondrial targeting sequence

HOMOLOGY

interspecies

homolog to murine Acsf3 (79.3 pc)

Homologene

FAMILY

acyl-CoA synthetase gene family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
text	located exclusively in mitochondria

basic FUNCTION	catalyzing the initial reaction in fatty acid metabolism, by forming a thioester with CoA
	acting as an acid-thiol ligase
	thioesterify substrates into CoA derivatives and weakly activated C24:0 fatty acid
	mitochondrial methylmalonyl-CoA and Malonyl coA synthetase, an enzyme postulated to catalyze the first step of intramitochondrial fatty acid synthesis
	acyl-CoA synthetase with extremely high specificity for malonate and methylmalonate
	mitochondrial ACSF3 enzyme is capable of filling this role by utilizing free malonic acid as substrate

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMAMMA

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   translocation     CBFA2T3/ACSF3 locus is a novel recurrent oncogenic target of IGH translocations, which might contribute to the pathogenesis of pediatric germinal center-derived B-cell lymphoma (

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS