ACADM

Protein identityUniProt · HPA

UniProt accession

P11310

Gene

ACADM

Ensembl

ENSG00000117054

Chromosome

1

Canonical length

421 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria,Calyx,Principal piece

Quaternary structure

Homotetramer

OverviewNCBI Gene

This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

421 residues, UniProt reviewed canonical sequence.

>P11310|ACADM
     1  MAAGFGRCCR VLRSISRFHW RSQHTKANRQ REPGLGFSFE FTEQQKEFQA TARKFAREEI
    61  IPVAAEYDKT GEYPVPLIRR AWELGLMNTH IPENCGGLGL GTFDACLISE ELAYGCTGVQ
   121  TAIEGNSLGQ MPIIIAGNDQ QKKKYLGRMT EEPLMCAYCV TEPGAGSDVA GIKTKAEKKG
   181  DEYIINGQKM WITNGGKANW YFLLARSDPD PKAPANKAFT GFIVEADTPG IQIGRKELNM
   241  GQRCSDTRGI VFEDVKVPKE NVLIGDGAGF KVAMGAFDKT RPVVAAGAVG LAQRALDEAT
   301  KYALERKTFG KLLVEHQAIS FMLAEMAMKV ELARMSYQRA AWEVDSGRRN TYYASIAKAF
   361  AGDIANQLAT DAVQILGGNG FNTEYPVEKL MRDAKIYQIY EGTSQIQRLI VAREHIDKYK
   421  N

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACADM can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

446 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ACADM.

Disease | AllUniProt

Conditions ACADM is implicated in, by any mechanism.

• Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) MIM:201450

Disease | GeneticClinVar

374 pathogenic / likely-pathogenic of 1,075 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Medium-chain acyl-coenzyme A dehydrogenase deficiency
• ACADM-related disorder
• MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up
• Inborn genetic diseases
• See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.15

gnomAD pLI

0

gnomAD missense Z

0.54

DepMap mean gene effect

0

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cardiac muscle cell differentiation
• carnitine biosynthetic process
• carnitine metabolic process, CoA-linked
• fatty acid beta-oxidation
• fatty acid beta-oxidation using acyl-CoA dehydrogenase
• glycogen biosynthetic process
• liver development
• medium-chain fatty acid catabolic process
• medium-chain fatty acid metabolic process
• post-embryonic development
• regulation of gluconeogenesis
• response to cold
• response to starvation

Molecular functions

• acyl-CoA dehydrogenase activity
• flavin adenine dinucleotide binding
• identical protein binding
• medium-chain fatty acyl-CoA dehydrogenase activity

Cellular components

• axon
• cytoplasm
• mitochondrial matrix
• mitochondrial membrane
• mitochondrion
• nucleus
• perinuclear theca
• sperm glycocalyx
• sperm principal piece

Protein domainsUniProt · Pfam · InterPro

• Acyl-CoA dehydrogenase, conserved site
• Acyl-CoA dehydrogenase/oxidase, middle domain
• Acyl-CoA dehydrogenase/oxidase, C-terminal
• Acyl-CoA dehydrogenase/oxidase, N-terminal and middle domain superfamily
• Acyl-CoA dehydrogenase/oxidase, N-terminal
• Acyl-CoA dehydrogenase-like, C-terminal
• Acyl-CoA dehydrogenase/oxidase, N-terminal domain superfamily
• Acyl-CoA oxidase/dehydrogenase, middle domain superfamily
• Acyl-CoA dehydrogenase, C-terminal domain
• Acyl-CoA dehydrogenase, middle domain
• Acyl-CoA dehydrogenase, N-terminal domain
• Medium-chain specific acyl-CoA dehydrogenase

KeywordsUniProt

• Acetylation
• FAD
• Fatty acid metabolism
• Flavoprotein
• Lipid metabolism
• Mitochondrion
• Oxidoreductase
• Phosphoprotein
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of ACADM in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ETFB