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ACSF2 acyl-CoA synthetase family member 2 [ Homo sapiens (human) ]

Gene ID: 80221, updated on 2-May-2024

Summary

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Official Symbol
ACSF2provided by HGNC
Official Full Name
acyl-CoA synthetase family member 2provided by HGNC
Primary source
HGNC:HGNC:26101
See related
Ensembl:ENSG00000167107 MIM:610465; AllianceGenome:HGNC:26101
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ACSMW; AVYV493
Summary
Enables medium-chain fatty acid-CoA ligase activity. Predicted to be involved in fatty acid metabolic process. Predicted to be located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in kidney (RPKM 73.1), thyroid (RPKM 24.6) and 18 other tissues See more
Orthologs
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Genomic context

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Location:
17q21.33
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (50426218..50474845)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (51293210..51341845)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48503579..48552206)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr17:48448134-48448295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12383 Neighboring gene mitochondrial ribosomal protein L27 Neighboring gene essential meiotic structure-specific endonuclease 1 Neighboring gene leucine rich repeat containing 59 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8697 Neighboring gene Sharpr-MPRA regulatory region 13074 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48503111-48503655 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:48508611-48509306 Neighboring gene mitochondrial ribosomal protein S21 pseudogene 9 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48545198-48546156 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48546157-48547114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8699 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:48557048-48557434 Neighboring gene chondroadherin Neighboring gene Sharpr-MPRA regulatory region 9450 Neighboring gene radical S-adenosyl methionine domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8701 Neighboring gene MYCBP associated protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8702

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Identification of novel PPARgamma target genes in primary human adipocytes. Perera RJ, et al. Gene, 2006 Mar 15. PMID 16380219
  2. USP40 deubiquitinates HINT1 and stabilizes p53 in podocyte damage. Takahashi S, et al. Biochem Biophys Res Commun, 2022 Jul 23. PMID 35605301
  3. Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome. Watkins PA, et al. J Lipid Res, 2007 Dec. PMID 17762044
  4. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Floyd BJ, et al. Mol Cell, 2016 Aug 18. PMID 27499296, Free PMC Article
  5. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. Moutaoufik MT, et al. iScience, 2019 Sep 27. PMID 31536960, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20920

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables long-chain fatty acid-CoA ligase activity TAS
Traceable Author Statement
more info
  
enables medium-chain fatty acid-CoA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables medium-chain fatty acid-CoA ligase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables medium-chain fatty acid-CoA ligase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in acyl-CoA metabolic process TAS
Traceable Author Statement
more info
  
involved_in fatty acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in long-chain fatty acid metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
medium-chain acyl-CoA ligase ACSF2, mitochondrial
Names
PPARG binding, long chain fatty acid acyl Co-A ligase like
acyl-CoA synthetase family member 2, mitochondrial
NP_001275897.1
NP_001275898.1
NP_001275899.1
NP_001275900.1
NP_001275901.1
NP_079425.3
XP_006722173.1
XP_011523596.1
XP_054173377.1
XP_054173378.1

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.

mRNA and Protein(s)

  1. NM_001288968.2 → NP_001275897.1  medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_001275897.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK294205, AK300625
    Consensus CDS
    CCDS74103.1
    UniProtKB/TrEMBL
    B4DTB9
    Related
    ENSP00000401831.2, ENST00000427954.6
    Conserved Domains (1) summary
    PRK08315
    Location:82 → 640
    PRK08315; AMP-binding domain protein; Validated

  2. NM_001288969.2 → NP_001275898.1  medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform 3

    See identical proteins and their annotated locations for NP_001275898.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region, and uses two alternate in-frame splice sites in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
    Source sequence(s)
    AK294205, AK295258, AK300625
    Consensus CDS
    CCDS74104.1
    UniProtKB/TrEMBL
    B4DTB9
    Related
    ENSP00000421884.1, ENST00000502667.5
    Conserved Domains (1) summary
    PRK08315
    Location:57 → 602
    PRK08315; AMP-binding domain protein; Validated

  3. NM_001288970.2 → NP_001275899.1  medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks two in-frame exons in the 5' and central coding regions, compared to variant 1. The encoded isoform (4) is shorter, compared to isoform 1.
    Source sequence(s)
    AK294205, AK300145, AK300625
    Consensus CDS
    CCDS74105.1
    UniProtKB/TrEMBL
    B4DTB9, E9PF16
    Related
    ENSP00000425964.1, ENST00000504392.5
    Conserved Domains (1) summary
    PRK08315
    Location:57 → 572
    PRK08315; AMP-binding domain protein; Validated

  4. NM_001288971.2 → NP_001275900.1  medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform 5

    See identical proteins and their annotated locations for NP_001275900.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (5) has a shorter N-terminus, compared to isoform 1. Both variants 5 and 6 encode the same isoform.
    Source sequence(s)
    AK294205, AK300625
    UniProtKB/Swiss-Prot
    Q96CM8
    Conserved Domains (1) summary
    PRK08315
    Location:2 → 455
    PRK08315; AMP-binding domain protein; Validated

  5. NM_001288972.2 → NP_001275901.1  medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform 5

    See identical proteins and their annotated locations for NP_001275901.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (5) has a shorter N-terminus, compared to isoform 1. Both variants 5 and 6 encode the same isoform.
    Source sequence(s)
    AK308584, AY358660, DC296100
    UniProtKB/Swiss-Prot
    Q96CM8
    Conserved Domains (1) summary
    PRK08315
    Location:2 → 455
    PRK08315; AMP-binding domain protein; Validated

  6. NM_025149.6 → NP_079425.3  medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_079425.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AK300625, AK308584, AY358660
    Consensus CDS
    CCDS11567.1
    UniProtKB/Swiss-Prot
    B4DFQ6, B4DHT5, B4DUF5, Q96CM8, Q9H7G2
    UniProtKB/TrEMBL
    B4DTB9
    Related
    ENSP00000300441.4, ENST00000300441.9
    Conserved Domains (1) summary
    PRK08315
    Location:57 → 615
    PRK08315; AMP-binding domain protein; Validated

RNA

  1. NR_110232.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AK308584, AK311109
    Related
    ENST00000506085.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    50426218..50474845
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525294.3 → XP_011523596.1  medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform X1

    UniProtKB/TrEMBL
    B4DTB9
    Conserved Domains (1) summary
    PRK08315
    Location:57 → 609
    PRK08315; AMP-binding domain protein; Validated

  2. XM_006722110.5 → XP_006722173.1  medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform X2

    Conserved Domains (1) summary
    PRK08315
    Location:57 → 441
    PRK08315; AMP-binding domain protein; Validated

RNA

  1. XR_007065473.1 RNA Sequence

  2. XR_007065474.1 RNA Sequence

  3. XR_934566.4 RNA Sequence

  4. XR_934563.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    51293210..51341845
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317402.1 → XP_054173377.1  medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform X1

  2. XM_054317403.1 → XP_054173378.1  medium-chain acyl-CoA ligase ACSF2, mitochondrial isoform X2

RNA

  1. XR_008484943.1 RNA Sequence

  2. XR_008484945.1 RNA Sequence

  3. XR_008484946.1 RNA Sequence

  4. XR_008484944.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96CM8.2 GenPept UniProtKB/Swiss-Prot:Q96CM8

Gene LinkOut

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