acyl-CoA synthetase family member 3

Summary
Gene Symbol
  • ACSF3
Aliases
  • malonyl-CoA synthetase
Organism
Homo sapiens (human)
NCBI Gene
197322
HGNC
27288
KEGG Gene ID
hsa:197322
PubChem
197322
Alliance of Genome Resources
Annotation
Keyword
  • ATP-binding
  • Fatty acid metabolism
  • Ligase
  • Mitochondrion
  • Proteomics identification
  • Reference proteome
  • Transit peptide
Proteins
Displaying all 2 entries
UniProt Protein Name
F5H5A1
Q4G176
  • Acyl-CoA synthetase family member 3
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
transporter
Functional Category
  • I: Lipid transport and metabolism
  • Q: Secondary metabolites biosynthesis, transport and catabolism
  • T: Signal transduction mechanisms
KEGG BRITE Database
Orthology
K18660
Name
malonyl-CoA/methylmalonyl-CoA synthetase [EC:6.2.1.76 6.2.1.-]
References
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0111263 combined malonic and methylmalonic acidemia
The Human Phenotype Ontology
Displaying entries 1 - 10 of 25 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000252 Microcephaly
HP:0000708 Atypical behavior
HP:0000750 Delayed speech and language development
HP:0001250 Seizure
HP:0001263 Global developmental delay
HP:0001298 Encephalopathy
HP:0001332 Dystonia
HP:0001508 Failure to thrive
HP:0001941 Acidosis
Displaying all 2 entries
Disease ID Disease Name
ORPHA:289504
  • combined malonic and methylmalonic acidemia
OMIM:614265
  • combined malonic and methylmalonic acidemia
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP006785
Gene Name
acyl-CoA synthetase family member 3

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.3.0

Last updated: August 4, 2025