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

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; AllianceGenome:HGNC:24723
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
Summary: Enables propionate-CoA ligase activity. Predicted to be involved in ketone body biosynthetic process. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in fat (RPKM 16.6), liver (RPKM 14.1) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q21.31

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (81077871..81261210)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (81056837..81240187)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (81471858..81654989)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

ACSS3 regulates the metabolic homeostasis of epithelial cells and alleviates pulmonary fibrosis.
Title: ACSS3 regulates the metabolic homeostasis of epithelial cells and alleviates pulmonary fibrosis.
Genome-wide assessment reveals a significant association between ACSS3 and physical activity.
Title: Genome-wide assessment reveals a significant association between ACSS3 and physical activity.
ACSS3 represses prostate cancer progression through downregulating lipid droplet-associated protein PLIN3.
Title: ACSS3 represses prostate cancer progression through downregulating lipid droplet-associated protein PLIN3.
This report is the first to indicate ACSS3 as a biomarker of GCa prognosis and that targeting ACSS3 in GCa patients might be therapeutically valuable.
Title: Mitochondrial Acetyl-CoA Synthetase 3 is Biosignature of Gastric Cancer Progression.
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.

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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
A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study of a sustained pattern of antidepressant response. EBI GWAS Catalog EBI GWAS CatalogPubMed
Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci. 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

G65555 (e-PCR)
- UniSTS:225397

SHGC-111519 (e-PCR)
- UniSTS:168371

RH1603 (e-PCR)
- UniSTS:27350

RH102920 (e-PCR)
- UniSTS:97254

RH46043 (e-PCR)
- UniSTS:14826

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 medium-chain fatty acid-CoA ligase activity	ISS Inferred from Sequence or Structural Similarity more info
enables propionate-CoA ligase activity	IBA Inferred from Biological aspect of Ancestor 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
is_active_in mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor 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	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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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

EC 6.2.1.1

EC 6.2.1.17

NP_001317172.1

EC 6.2.1.1

EC 6.2.1.17

NP_078836.1

EC 6.2.1.1

EC 6.2.1.17

XP_005269208.1

EC 6.2.1.1

EC 6.2.1.17

XP_047285505.1

EC 6.2.1.1

EC 6.2.1.17

XP_054229210.1

EC 6.2.1.1

EC 6.2.1.17

XP_054229211.1

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_001330242.2 → NP_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/TrEMBL

A0A0B4J1R2

Related

ENSP00000261206.3, ENST00000261206.7
NM_001330243.2 → NP_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:1 → 361

AFD_class_I; Adenylate forming domain, Class I superfamily
NM_024560.4 → NP_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

Q8NC66, Q9H6R3

Related

ENSP00000449535.1, ENST00000548058.6

Conserved Domains (1) summary

cd05967
Location:62 → 679

PrpE; Propionyl-CoA synthetase (PrpE)

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_000012.12 Reference GRCh38.p14 Primary Assembly

Range

81077871..81261210

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047429549.1 → XP_047285505.1 acyl-CoA synthetase short-chain family member 3, mitochondrial isoform X1
XM_005269151.6 → XP_005269208.1 acyl-CoA synthetase short-chain family member 3, mitochondrial isoform X2

Conserved Domains (1) summary

cl17068
Location:71 → 451

AFD_class_I; Adenylate forming domain, Class I superfamily

RNA

XR_944720.4 RNA Sequence
XR_007063125.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

81056837..81240187

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054373235.1 → XP_054229210.1 acyl-CoA synthetase short-chain family member 3, mitochondrial isoform X1
XM_054373236.1 → XP_054229211.1 acyl-CoA synthetase short-chain family member 3, mitochondrial isoform X2