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AACS acetoacetyl-CoA synthetase [ Homo sapiens (human) ]

Gene ID: 65985, updated on 21-Dec-2019

Summary

Official Symbol
AACSprovided by HGNC
Official Full Name
acetoacetyl-CoA synthetaseprovided by HGNC
Primary source
HGNC:HGNC:21298
See related
Ensembl:ENSG00000081760 MIM:614364
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
ACSF1; SUR-5
Expression
Ubiquitous expression in fat (RPKM 23.3), skin (RPKM 16.5) and 24 other tissues See more
Orthologs

Genomic context

See AACS in Genome Data Viewer
Location:
12q24.31
Exon count:
19
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (125065435..125143327)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (125549925..125627879)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene BRI3 binding protein Neighboring gene translocase of outer mitochondrial membrane 6 homolog (yeast) pseudogene Neighboring gene uncharacterized LOC105370052 Neighboring gene TNF and HNRNPL related immunoregulatory long non-coding RNA Neighboring gene uncharacterized LOC105370053 Neighboring gene transmembrane protein 132B Neighboring gene uncharacterized LOC105370054

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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12389, FLJ41251

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
acetoacetate-CoA ligase activity TAS
Traceable Author Statement
more info
 
butyrate-CoA ligase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
adipose tissue development IEA
Inferred from Electronic Annotation
more info
 
cellular response to cholesterol IEA
Inferred from Electronic Annotation
more info
 
cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to testosterone stimulus IEA
Inferred from Electronic Annotation
more info
 
fatty acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
ketone body biosynthetic process TAS
Traceable Author Statement
more info
 
liver development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
response to ethanol IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IEA
Inferred from Electronic Annotation
more info
 
response to oleic acid IEA
Inferred from Electronic Annotation
more info
 
response to purine-containing compound IEA
Inferred from Electronic Annotation
more info
 
response to starvation IEA
Inferred from Electronic Annotation
more info
 
white fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
acetoacetyl-CoA synthetase
Names
acetoacetate-CoA ligase
acyl-CoA synthetase family member 1
homolog of C. elegans supressor of ras 5 (sur-5)
protein sur-5 homolog
NP_001306768.1
NP_001306769.1
NP_076417.2
XP_011536994.1

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.

mRNA and Protein(s)

  1. NM_001319839.2NP_001306768.1  acetoacetyl-CoA synthetase isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct, shorter C-terminus compared to isoform 1.
    Source sequence(s)
    BC040490, BC041000, BC051862, BM975973, HY018418
    UniProtKB/Swiss-Prot
    Q86V21
    Conserved Domains (2) summary
    cd05943
    Location:40560
    AACS; Acetoacetyl-CoA synthetase (acetoacetate-CoA ligase, AACS)
    pfam00501
    Location:112541
    AMP-binding; AMP-binding enzyme
  2. NM_001319840.2NP_001306769.1  acetoacetyl-CoA synthetase isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AC122688
    Conserved Domains (2) summary
    cd05943
    Location:40622
    AACS; Acetoacetyl-CoA synthetase (acetoacetate-CoA ligase, AACS)
    TIGR01217
    Location:16629
    ac_ac_CoA_syn; acetoacetyl-CoA synthase
  3. NM_023928.5NP_076417.2  acetoacetyl-CoA synthetase isoform 1

    See identical proteins and their annotated locations for NP_076417.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC040490, BC051862
    Consensus CDS
    CCDS9263.1
    UniProtKB/Swiss-Prot
    Q86V21
    UniProtKB/TrEMBL
    A0A024RBV2
    Related
    ENSP00000324842.6, ENST00000316519.11
    Conserved Domains (2) summary
    cd05943
    Location:40663
    AACS; Acetoacetyl-CoA synthetase (acetoacetate-CoA ligase, AACS)
    TIGR01217
    Location:16670
    ac_ac_CoA_syn; acetoacetyl-CoA synthase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    125065435..125143327
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538692.2XP_011536994.1  acetoacetyl-CoA synthetase isoform X1

    Conserved Domains (2) summary
    cd05943
    Location:7555
    AACS; Acetoacetyl-CoA synthetase (acetoacetate-CoA ligase, AACS)
    COG0365
    Location:20539
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]

RNA

  1. XR_001748852.2 RNA Sequence

  2. XR_001748853.2 RNA Sequence

  3. XR_001748851.2 RNA Sequence

  4. XR_001748854.2 RNA Sequence

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