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ACSS3 acyl-CoA synthetase short chain family member 3 [ Homo sapiens (human) ]

Gene ID: 79611, updated on 9-Aug-2021

Summary

Official Symbol
ACSS3provided by HGNC
Official Full Name
acyl-CoA synthetase short chain family member 3provided by HGNC
Primary source
HGNC:HGNC:24723
See related
Ensembl:ENSG00000111058 MIM:614356
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
Expression
Broad expression in fat (RPKM 16.6), liver (RPKM 14.1) and 17 other tissues See more
Orthologs
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Genomic context

See ACSS3 in Genome Data Viewer
Location:
12q21.31
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (81078037..81261210)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (81471858..81654989)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene tripartite motif-containing 75 pseudogene Neighboring gene lin-7 homolog A, crumbs cell polarity complex component Neighboring gene uncharacterized LOC105369869 Neighboring gene microRNA 618 Neighboring gene uncharacterized LOC107984535 Neighboring gene microRNA 4699 Neighboring gene PPFIA2 antisense RNA 1 Neighboring gene PTPRF interacting protein alpha 2 Neighboring gene uncharacterized LOC105369872

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?

Phenotypes

Associated conditions

Description Tests
A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
GeneReviews: Not available
A genome-wide association study of a sustained pattern of antidepressant response.
GeneReviews: Not available
Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21963

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables acetate-CoA ligase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables acetate-CoA ligase activity TAS
Traceable Author Statement
more info
 
enables butyrate-CoA ligase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables propionate-CoA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in ketone body biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
acyl-CoA synthetase short-chain family member 3, mitochondrial
Names
AMP-binding enzyme, 33217
acetate--CoA ligase 3
propionate--CoA ligase
NP_001317171.1
NP_001317172.1
NP_078836.1
XP_005269208.1

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_001330242.2NP_001317171.1  acyl-CoA synthetase short-chain family member 3, mitochondrial isoform 2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is one amino acid shorter than isoform 1.
    Source sequence(s)
    AC078920, AI022900, AK025616, AK074267, AK074938, DA756631
    Consensus CDS
    CCDS81716.1
    UniProtKB/Swiss-Prot
    Q9H6R3
    UniProtKB/TrEMBL
    A0A0B4J1R2
    Related
    ENSP00000261206.3, ENST00000261206.7
  2. NM_001330243.2NP_001317172.1  acyl-CoA synthetase short-chain family member 3, mitochondrial isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate exon compared to variant 1. This variant represents translation initiation at a downstream start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (3) that has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC078920, AC134506, AI022900, AK025616, AK074267, AK074938
    UniProtKB/Swiss-Prot
    Q9H6R3
    Conserved Domains (1) summary
    cl17068
    Location:1361
    AFD_class_I; Adenylate forming domain, Class I superfamily
  3. NM_024560.4NP_078836.1  acyl-CoA synthetase short-chain family member 3, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_078836.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC078920, AI022900, AK025616, AK074267, AK074938
    Consensus CDS
    CCDS9022.1
    UniProtKB/Swiss-Prot
    Q9H6R3
    Related
    ENSP00000449535.1, ENST00000548058.6
    Conserved Domains (1) summary
    cd05967
    Location:62679
    PrpE; Propionyl-CoA synthetase (PrpE)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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
    81078037..81261210
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269151.5XP_005269208.1  acyl-CoA synthetase short-chain family member 3, mitochondrial isoform X1

    Conserved Domains (1) summary
    cl17068
    Location:71451
    AFD_class_I; Adenylate forming domain, Class I superfamily

RNA

  1. XR_944720.3 RNA Sequence

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