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

Gene ID: 197322, updated on 13-Feb-2019

Summary

Official Symbol
ACSF3provided by HGNC
Official Full Name
acyl-CoA synthetase family member 3provided by HGNC
Primary source
HGNC:HGNC:27288
See related
Ensembl:ENSG00000176715 MIM:614245
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]
Expression
Ubiquitous expression in duodenum (RPKM 1.5), lymph node (RPKM 1.5) and 25 other tissues See more
Orthologs

Genomic context

See ACSF3 in Genome Data Viewer
Location:
16q24.3
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (89093809..89160556)
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 uncharacterized LOC105371411 Neighboring gene uncharacterized LOC105371412 Neighboring gene long intergenic non-protein coding RNA 304 Neighboring gene long intergenic non-protein coding RNA 2138 Neighboring gene cadherin 15

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
very long-chain fatty acid-CoA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
very long-chain fatty acid-CoA ligase activity TAS
Traceable Author Statement
more info
 
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 
long-chain fatty-acyl-CoA biosynthetic process TAS
Traceable Author Statement
more info
 
malonate catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

    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 identical proteins and their annotated locations for 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
    Related
    ENSP00000384627.3, ENST00000406948.7
    Conserved Domains (2) summary
    cd05941
    Location:55566
    MCS; Malonyl-CoA synthetase (MCS)
    COG0318
    Location:48569
    CaiC; Acyl-CoA synthetase (AMP-forming)/AMP-acid ligase II [Lipid transport and metabolism, Secondary metabolites biosynthesis, transport and catabolism]
  2. NM_001243279.2NP_001230208.1  acyl-CoA synthetase family member 3, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for 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
    ENSP00000479130.1, ENST00000614302.4
    Conserved Domains (2) summary
    cd05941
    Location:55566
    MCS; Malonyl-CoA synthetase (MCS)
    COG0318
    Location:48569
    CaiC; Acyl-CoA synthetase (AMP-forming)/AMP-acid ligase II [Lipid transport and 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
    Related
    ENSP00000367596.4, ENST00000378345.8
    Conserved Domains (1) summary
    cl17068
    Location:1301
    AFD_class_I; Adenylate forming domain, Class I superfamily
  4. NM_174917.4NP_777577.2  acyl-CoA synthetase family member 3, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for 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
    ENSP00000320646.4, ENST00000317447.8
    Conserved Domains (2) summary
    cd05941
    Location:55566
    MCS; Malonyl-CoA synthetase (MCS)
    COG0318
    Location:48569
    CaiC; Acyl-CoA synthetase (AMP-forming)/AMP-acid ligase II [Lipid transport and 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
    Related
    ENST00000537116.5
  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
  3. NR_147928.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC009113, AC135782
  4. NR_147929.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC009113, AC135782

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    89093809..89160556
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023019.1XP_016878508.1  acyl-CoA synthetase family member 3, mitochondrial isoform X2

  2. XM_005256293.2XP_005256350.1  acyl-CoA synthetase family member 3, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_005256350.1

    Conserved Domains (2) summary
    cd05941
    Location:55546
    MCS; Malonyl-CoA synthetase (MCS)
    pfam00501
    Location:46480
    AMP-binding; AMP-binding enzyme
  3. XM_017023021.1XP_016878510.1  acyl-CoA synthetase family member 3, mitochondrial isoform X4

  4. XM_011522943.1XP_011521245.1  acyl-CoA synthetase family member 3, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011521245.1

    Conserved Domains (2) summary
    cd05941
    Location:55546
    MCS; Malonyl-CoA synthetase (MCS)
    pfam00501
    Location:46480
    AMP-binding; AMP-binding enzyme
  5. XM_024450186.1XP_024305954.1  acyl-CoA synthetase family member 3, mitochondrial isoform X5

    Conserved Domains (1) summary
    cl17068
    Location:1281
    AFD_class_I; Adenylate forming domain, Class I superfamily
  6. XM_011522942.1XP_011521244.1  acyl-CoA synthetase family member 3, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011521244.1

    Conserved Domains (2) summary
    cd05941
    Location:55546
    MCS; Malonyl-CoA synthetase (MCS)
    pfam00501
    Location:46480
    AMP-binding; AMP-binding enzyme
  7. XM_024450187.1XP_024305955.1  acyl-CoA synthetase family member 3, mitochondrial isoform X7

    Conserved Domains (1) summary
    cl17068
    Location:1301
    AFD_class_I; Adenylate forming domain, Class I superfamily
  8. XM_017023018.1XP_016878507.1  acyl-CoA synthetase family member 3, mitochondrial isoform X1

    Conserved Domains (2) summary
    cd05941
    Location:55546
    MCS; Malonyl-CoA synthetase (MCS)
    pfam00501
    Location:46480
    AMP-binding; AMP-binding enzyme
  9. XM_017023020.2XP_016878509.1  acyl-CoA synthetase family member 3, mitochondrial isoform X3

  10. XM_017023022.1XP_016878511.1  acyl-CoA synthetase family member 3, mitochondrial isoform X6

RNA

  1. XR_001751864.2 RNA Sequence

    Related
    ENST00000542688.5
  2. XR_933240.3 RNA Sequence

  3. XR_001751865.1 RNA Sequence

  4. XR_933238.2 RNA Sequence

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.
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