ACSF3 acyl-CoA synthetase family member 3 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: ACSF3provided by HGNC
Official Full Name: acyl-CoA synthetase family member 3provided by HGNC
Primary source: HGNC:27288
Locus tag: PSEC0197
See related: Ensembl:ENSG00000176715; HPRD:14117; MIM:614245; Vega:OTTHUMG00000138044
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Genomic context

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Location :: 16q24.3

Sequence :: Chromosome: 16; NC_000016.9 (89160217..89222171)

See ACSF3 in Epigenomics, MapViewer

Chromosome 16 - NC_000016.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

data indicate that the CBFA2T3/ACSF3 locus is a novel recurrent oncogenic target of immunoglobulin heavy chain translocations, which might contribute to the pathogenesis of pediatric GC-derived B-cell lymphoma.
Title: The CBFA2T3/ACSF3 locus is recurrently involved in IGH chromosomal translocation t(14;16)(q32;q24) in pediatric B-cell lymphoma with germinal center phenotype.
ACSF3 is a candidate gene for non-classical CMAMMA observed in our patients.
Title: Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.
Mammalian ACSF3 protein is a malonyl-CoA synthetase that supplies the chain extender units for mitochondrial fatty acid synthesis.
Title: Mammalian ACSF3 protein is a malonyl-CoA synthetase that supplies the chain extender units for mitochondrial fatty acid synthesis.
mutations in ACSF3, encoding a putative methylmalonyl-CoA and malonyl-CoA synthetase, were identified as a cause of combined malonic and methylmalonic aciduria.
Title: Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Combined malonic and methylmalonic aciduria

MIM: 614265

Genetic Testing Registry

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:128248	BioGRID:107031	AUP1		BioGRID	PubMed	Affinity Capture-MS
BioGRID:128248	BioGRID:113164	UBC		BioGRID	PubMed	Affinity Capture-MS

General gene information

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Markers

RH65209 (e-PCR)
- UniSTS:89140

RH79754 (e-PCR)
- UniSTS:88293

Homology

Homologs of the ACSF3 gene: The ACSF3 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, M.oryzae, N.crassa, A.thaliana, and rice.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
acid-thiol ligase activity	IDA Inferred from Direct Assay more info	PubMed
malonyl-CoA synthetase activity	IDA Inferred from Direct Assay more info

Process	Evidence Code	Pubs
fatty acid biosynthetic process	IDA Inferred from Direct Assay more info
fatty acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
malonate catabolic process	IDA Inferred from Direct Assay more info

Component	Evidence Code	Pubs
mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: acyl-CoA synthetase family member 3, mitochondrial

Names: acyl-CoA synthetase family member 3, mitochondrial; malonyl-CoA synthetase

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_031961.1 RefSeqGene

Range

5001..66955

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001127214.2 → NP_001120686.1 acyl-CoA synthetase family member 3, mitochondrial precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 4 encode the same protein.

Source sequence(s)

AC009113, AK290963, BM148793

Consensus CDS

CCDS10974.1

UniProtKB/Swiss-Prot

Q4G176

Conserved Domains (2) summary

COG0318
Location:48 – 571
Blast Score: 817

CaiC; Acyl-CoA synthetases (AMP-forming)/AMP-acid ligases II [Lipid metabolism / Secondary metabolites biosynthesis, transport, and catabolism]

pfam00501
Location:67 – 504
Blast Score: 669

AMP-binding; AMP-binding enzyme
NM_001243279.1 → NP_001230208.1 acyl-CoA synthetase family member 3, mitochondrial precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 4 encode the same protein.

Source sequence(s)

AC009113, AC135782, BC028399, BM148793

Consensus CDS

CCDS10974.1

UniProtKB/Swiss-Prot

Q4G176

Conserved Domains (2) summary

COG0318
Location:48 – 571
Blast Score: 817

CaiC; Acyl-CoA synthetases (AMP-forming)/AMP-acid ligases II [Lipid metabolism / Secondary metabolites biosynthesis, transport, and catabolism]

pfam00501
Location:67 – 504
Blast Score: 669

AMP-binding; AMP-binding enzyme
NM_174917.3 → NP_777577.2 acyl-CoA synthetase family member 3, mitochondrial precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) and variants 2 and 4 encode the same protein.

Source sequence(s)

AC009113, AC135782, AK075499, BM148793, DA062861

Consensus CDS

CCDS10974.1

UniProtKB/Swiss-Prot

Q4G176

Related

ENSP00000320646, OTTHUMP00000175346, ENST00000317447, OTTHUMT00000269919

Conserved Domains (2) summary

COG0318
Location:48 – 571
Blast Score: 817

CaiC; Acyl-CoA synthetases (AMP-forming)/AMP-acid ligases II [Lipid metabolism / Secondary metabolites biosynthesis, transport, and catabolism]

pfam00501
Location:67 – 504
Blast Score: 669

AMP-binding; AMP-binding enzyme

RNA

NR_023316.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two consecutive internal exons, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC009113, BI837487, BM148793, BQ953430, BX325026, BX402632
NR_045666.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate splice site in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC009113, AK075499, BC072391, BM148793, DA062861
NR_045667.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC009113, AK075499, AK096561

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000016.9 Reference GRCh37.p10 Primary Assembly

Range

89160217..89222171

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000148.1 Alternate HuRef

Range

74859689..74921455

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018927.1 Alternate CHM1_1.0

Range

90160933..90222735

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01014163.1 (24068..32389)	None
genomic	ABBA01014164.1	None
genomic	AC009113.8 (110675..136295)	None
genomic	AC135782.4 (127323..163550)	None
genomic	AMYH01007925.1 (22109..83911)	None
genomic	CH471184.2	EAW66744.1
genomic	CS051329.1	CAI72159.1
genomic	HI573908.1	CBX47443.1
mRNA	AK075499.1	BAC11654.1
mRNA	AK096561.1	None
mRNA	AK290963.1	BAF83652.1
mRNA	BC028399.1	AAH28399.1
mRNA	BC064609.1	AAH64609.1
mRNA	BC072391.1	AAH72391.1
mRNA	BI837487.1	None
mRNA	BM148793.1	None
mRNA	BQ953430.1	None
mRNA	BX325026.2	None
mRNA	BX402632.2	None
mRNA	CR976321.1	None
mRNA	DA062861.1	None