acyl-CoA synthetase family member 3

Summary
Gene Symbol
  • ACSF3
Aliases
  • malonyl-CoA synthetase
Organism
Homo sapiens (human)
External Links
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
KEGG BRITE Database
Orthology
K18660
Name
malonyl-CoA/methylmalonyl-CoA synthetase [EC:6.2.1.76 6.2.1.-]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 18 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0060058 lymphoma
DOID:0111263 combined malonic and methylmalonic acidemia
DOID:10907 microcephaly
DOID:10914 amnestic disorder
DOID:13250 diarrhea
DOID:14749 methylmalonic acidemia
DOID:3234 central nervous system lymphoma
DOID:4543 retrograde amnesia
DOID:543 dystonia
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024