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

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; AllianceGenome:HGNC:16091
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: mouse all
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Genomic context

Location:: 20p11.21

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (25006237..25058139, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (25070421..25122324, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (24986873..25038775, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identifying Acss1, Mtfp1 and Oxct1 as key regulators and promising biomarkers of sarcopenia in various models.
Title: Identifying Acss1, Mtfp1 and Oxct1 as key regulators and promising biomarkers of sarcopenia in various models.
citrate synthase and ACSS1 have tumorigenic functions in hepatocellular carcinoma
Title: Gene network analysis reveals a novel 22-gene signature of carbon metabolism in hepatocellular carcinoma.
ACSS1 is essential for glucose-independent acetate-mediated cell survival and tumor growth.
Title: Glucose-independent Acetate Metabolism Promotes Melanoma Cell Survival and Tumor Growth.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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

EBI GWAS Catalog

Description
Common genetic variation and performance on standardized cognitive tests. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D20S1043 (e-PCR)
- UniSTS:81933

G43548 (e-PCR)
- UniSTS:95002

D8S2279 (e-PCR)
- UniSTS:473907

AL030974 (e-PCR)
- UniSTS:75446

WI-11267 (e-PCR)
- UniSTS:14325

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables AMP binding	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables acetate-CoA ligase activity	EXP Inferred from Experiment more info	PubMed
enables acetate-CoA ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetate-CoA ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables propionate-CoA ligase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in acetate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in acetyl-CoA biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in acetyl-CoA biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in acetyl-CoA biosynthetic process from acetate	IEA Inferred from Electronic Annotation more info
involved_in ethanol catabolic process	TAS Traceable Author Statement more info
involved_in propionate biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
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	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: acetyl-coenzyme A synthetase 2-like, mitochondrial

Names: acetate--CoA ligase 2; propionate--CoA ligase

NP_001239604.1

EC 6.2.1.1

EC 6.2.1.17

NP_001239605.1

EC 6.2.1.1

EC 6.2.1.17

NP_001239606.1

EC 6.2.1.1

EC 6.2.1.17

NP_115890.2

EC 6.2.1.1

EC 6.2.1.17

XP_006723722.1

EC 6.2.1.1

EC 6.2.1.17

XP_047296512.1

EC 6.2.1.1

EC 6.2.1.17

XP_047296513.1

EC 6.2.1.1

EC 6.2.1.17

XP_054180116.1

EC 6.2.1.1

EC 6.2.1.17

XP_054180117.1

EC 6.2.1.1

EC 6.2.1.17

XP_054180118.1

EC 6.2.1.1

EC 6.2.1.17

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)

NM_001252675.2 → NP_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, BC044588, BM150326

UniProtKB/TrEMBL

Q7Z5G3

Conserved Domains (2) summary

cd05966
Location:64 → 665

ACS; Acetyl-CoA synthetase (also known as acetate-CoA ligase and acetyl-activating enzyme)

TIGR02188
Location:54 → 674

Ac_CoA_lig_AcsA; acetate--CoA ligase
NM_001252676.2 → NP_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, DC404033

Consensus CDS

CCDS58764.1

UniProtKB/TrEMBL

Q6ZV30

Related

ENSP00000439304.2, ENST00000537502.5

Conserved Domains (2) summary

COG0365
Location:23 → 543

Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]

cl17068
Location:23 → 546

AFD_class_I; Adenylate forming domain, Class I superfamily
NM_001252677.2 → NP_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, BC114612, BM150326

Consensus CDS

CCDS58765.1

UniProtKB/TrEMBL

Q7Z5G3

Related

ENSP00000388793.2, ENST00000432802.6

Conserved Domains (2) summary

pfam00501
Location:115 → 555

AMP-binding; AMP-binding enzyme

cl17068
Location:64 → 555

AFD_class_I; Adenylate forming domain, Class I superfamily
NM_032501.4 → NP_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

B3KXL2, B4DJZ3, D3DW48, F5H6F4, F8W7Y1, Q5TF42, Q8IV99, Q8N234, Q96JI1, Q96JX6, Q9NU28, Q9NUB1

UniProtKB/TrEMBL

Q7Z5G3

Related

ENSP00000316924.4, ENST00000323482.9

Conserved Domains (1) summary

TIGR02188
Location:54 → 676

Ac_CoA_lig_AcsA; acetate--CoA ligase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

25006237..25058139 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006723659.2 → XP_006723722.1 acetyl-coenzyme A synthetase 2-like, mitochondrial isoform X2

UniProtKB/TrEMBL

Q658X4

Conserved Domains (2) summary

TIGR02188
Location:54 → 471

Ac_CoA_lig_AcsA; acetate--CoA ligase

cl17068
Location:64 → 462

AFD_class_I; Adenylate forming domain, Class I superfamily
XM_047440557.1 → XP_047296513.1 acetyl-coenzyme A synthetase 2-like, mitochondrial isoform X3
XM_047440556.1 → XP_047296512.1 acetyl-coenzyme A synthetase 2-like, mitochondrial isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

25070421..25122324 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054324142.1 → XP_054180117.1 acetyl-coenzyme A synthetase 2-like, mitochondrial isoform X2
XM_054324143.1 → XP_054180118.1 acetyl-coenzyme A synthetase 2-like, mitochondrial isoform X3
XM_054324141.1 → XP_054180116.1 acetyl-coenzyme A synthetase 2-like, mitochondrial isoform X1