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ACSS1 acyl-CoA synthetase short chain family member 1 [ Homo sapiens (human) ]

Gene ID: 84532, updated on 7-Jun-2020

Summary

Official Symbol
ACSS1provided by HGNC
Official Full Name
acyl-CoA synthetase short chain family member 1provided by HGNC
Primary source
HGNC:HGNC:16091
See related
Ensembl:ENSG00000154930 MIM:614355
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
Also known as
ACAS2L; ACECS1; AceCS2L
Summary
This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Expression
Broad expression in placenta (RPKM 70.4), duodenum (RPKM 23.0) and 24 other tissues See more
Orthologs

Genomic context

See ACSS1 in Genome Data Viewer
Location:
20p11.21
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (25006230..25058182, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (24986866..25038818, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cystatin F Neighboring gene adipocyte plasma membrane associated protein Neighboring gene RNA, U6 small nuclear 1257, pseudogene Neighboring gene visual system homeobox 1 Neighboring gene V-set domain containing T cell activation inhibitor 1 pseudogene

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

  • FLJ45659, MGC33843

Gene Ontology Provided by GOA

Function Evidence Code Pubs
AMP binding IEA
Inferred from Electronic Annotation
more info
 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
acetate-CoA ligase activity EXP
Inferred from Experiment
more info
PubMed 
acetate-CoA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
propionate-CoA ligase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
acetate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
acetyl-CoA biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
acetyl-CoA biosynthetic process from acetate IEA
Inferred from Electronic Annotation
more info
 
ethanol oxidation TAS
Traceable Author Statement
more info
 
propionate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
acetyl-coenzyme A synthetase 2-like, mitochondrial
Names
acetate--CoA ligase 2
propionate--CoA ligase
NP_001239604.1
NP_001239605.1
NP_001239606.1
NP_115890.2
XP_006723722.1
XP_011527690.1

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_001252675.1NP_001239604.1  acetyl-coenzyme A synthetase 2-like, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_001239604.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK092295, AK125923, AW024920, BC044588, BM150326
    UniProtKB/Swiss-Prot
    Q9NUB1
    Conserved Domains (2) summary
    cd05966
    Location:64665
    ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)
    TIGR02188
    Location:54674
    Ac_CoA_lig_AcsA; acetate--CoA ligase
  2. NM_001252676.1NP_001239605.1  acetyl-coenzyme A synthetase 2-like, mitochondrial isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK125923, AK296306, AK314440, AW024920, DC404033
    Consensus CDS
    CCDS58764.1
    UniProtKB/Swiss-Prot
    Q9NUB1
    Related
    ENSP00000439304.2, ENST00000537502.5
    Conserved Domains (2) summary
    COG0365
    Location:23543
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    cl17068
    Location:23546
    AFD_class_I; Adenylate forming domain, Class I superfamily
  3. NM_001252677.1NP_001239606.1  acetyl-coenzyme A synthetase 2-like, mitochondrial isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region, which results in a translational frameshift, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK125923, AK127566, AW024920, BC114612, BM150326
    Consensus CDS
    CCDS58765.1
    UniProtKB/Swiss-Prot
    Q9NUB1
    UniProtKB/TrEMBL
    Q1RMZ4
    Related
    ENSP00000388793.2, ENST00000432802.6
    Conserved Domains (2) summary
    pfam00501
    Location:115555
    AMP-binding; AMP-binding enzyme
    cl17068
    Location:64555
    AFD_class_I; Adenylate forming domain, Class I superfamily
  4. NM_032501.4NP_115890.2  acetyl-coenzyme A synthetase 2-like, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_115890.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK125923, AK314440, BM150326
    Consensus CDS
    CCDS13167.1
    UniProtKB/Swiss-Prot
    Q9NUB1
    Related
    ENSP00000316924.4, ENST00000323482.9
    Conserved Domains (2) summary
    cd05966
    Location:64667
    ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)
    TIGR02188
    Location:54676
    Ac_CoA_lig_AcsA; acetate--CoA ligase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    25006230..25058182 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723659.1XP_006723722.1  acetyl-coenzyme A synthetase 2-like, mitochondrial isoform X1

    Conserved Domains (2) summary
    TIGR02188
    Location:54471
    Ac_CoA_lig_AcsA; acetate--CoA ligase
    cl17068
    Location:64462
    AFD_class_I; Adenylate forming domain, Class I superfamily
  2. XM_011529388.1XP_011527690.1  acetyl-coenzyme A synthetase 2-like, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl17068
    Location:52449
    AFD_class_I; Adenylate forming domain, Class I superfamily

RNA

  1. XR_937170.1 RNA Sequence

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