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

Gene ID: 197322, updated on 7-Dec-2014
Official Symbol
ACSF3provided by HGNC
Official Full Name
acyl-CoA synthetase family member 3provided by HGNC
Primary source
HGNC: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 have been observed for this gene. [provided by RefSeq, Sep 2013]
See ACSF3 in Epigenomics, MapViewer
Location:
16q24.3
Exon count:
15
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 16 NC_000016.10 (89093809..89155846)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (89160217..89222171)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene core-binding factor, runt domain, alpha subunit 2; translocated to, 3 Neighboring gene uncharacterized LOC102724632 Neighboring gene uncharacterized LOC100129697 Neighboring gene uncharacterized LOC102724669 Neighboring gene long intergenic non-protein coding RNA 304

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ39242

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
PubMed 
Process Evidence Code Pubs
fatty acid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
malonate catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
acyl-CoA synthetase family member 3, mitochondrial
Names
acyl-CoA synthetase family member 3, mitochondrial
malonyl-CoA synthetase

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

  1. NG_031961.1 

    Range
    5001..67038
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to NP_001120686.1

    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 isoform (1).
    Source sequence(s)
    AC009113, AK290963, BM148793
    Consensus CDS
    CCDS10974.1
    UniProtKB/Swiss-Prot
    Q4G176
    Conserved Domains (2) summary
    cd05941
    Location:55566
    MCS; Malonyl-CoA synthetase (MCS)
    COG0318
    Location:48569
    CaiC; Acyl-CoA synthetases (AMP-forming)/AMP-acid ligases II [Lipid metabolism / Secondary metabolites biosynthesis, transport, and catabolism]
  2. NM_001243279.2NP_001230208.1  acyl-CoA synthetase family member 3, mitochondrial isoform 1 precursor

    See proteins identical to NP_001230208.1

    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 isoform (1).
    Source sequence(s)
    AC009113, AC135782, BC028399, BM148793
    Consensus CDS
    CCDS10974.1
    UniProtKB/Swiss-Prot
    Q4G176
    Related
    ENSP00000479130, ENST00000614302
    Conserved Domains (2) summary
    cd05941
    Location:55566
    MCS; Malonyl-CoA synthetase (MCS)
    COG0318
    Location:48569
    CaiC; Acyl-CoA synthetases (AMP-forming)/AMP-acid ligases II [Lipid metabolism / Secondary metabolites biosynthesis, transport, and catabolism]
  3. NM_001284316.1NP_001271245.1  acyl-CoA synthetase family member 3, mitochondrial isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two exons, one of which contains a portion of the 5' UTR and the other which contains a portion of the 5' coding region including the start codon, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC009113, BI837487, BM148793, BQ953430, BX325026, BX402632
    Consensus CDS
    CCDS73926.1
    UniProtKB/TrEMBL
    F5H5A1
    Conserved Domains (2) summary
    COG0318
    Location:5304
    CaiC; Acyl-CoA synthetases (AMP-forming)/AMP-acid ligases II [Lipid metabolism / Secondary metabolites biosynthesis, transport, and catabolism]
    cl17068
    Location:1301
    AFD_class_I; Adenylate forming domain, Class I
  4. NM_174917.4NP_777577.2  acyl-CoA synthetase family member 3, mitochondrial isoform 1 precursor

    See proteins identical to NP_777577.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1, 2 and 4 encode the same isoform (1).
    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
    cd05941
    Location:55566
    MCS; Malonyl-CoA synthetase (MCS)
    COG0318
    Location:48569
    CaiC; Acyl-CoA synthetases (AMP-forming)/AMP-acid ligases II [Lipid metabolism / Secondary metabolites biosynthesis, transport, and catabolism]

RNA

  1. NR_045667.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) represents use of an alternate promoter and contains an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AC009113, AK075499, AK096561
  2. NR_104293.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses two alternate splice sites, one in the 5' and one 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, AC135782, BC072391, BM148793, BX404035, HY100877

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

    Range
    89093809..89155846
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256293.1XP_005256350.1  

    Conserved Domains (2) summary
    cd05941
    Location:55546
    MCS; Malonyl-CoA synthetase (MCS)
    pfam00501
    Location:46480
    AMP-binding; AMP-binding enzyme
  2. XM_006721166.1XP_006721229.1  

    Conserved Domains (2) summary
    pfam00501
    Location:46376
    AMP-binding; AMP-binding enzyme
    cl17068
    Location:55380
    AFD_class_I; Adenylate forming domain, Class I

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

    Range
    90571314..90633542
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000148.1 

    Range
    74859689..74921538
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_045666.1: Suppressed sequence

    Description
    NR_045666.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.