Seroatlas · Human Serome Atlas

ACADVL

Very long-chain specific acyl-CoA dehydrogenase, mitochondrial

Also known as: ACAD6, ACADV_HUMAN, LCACD, VLCAD

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P49748
Gene
ACADVL
Ensembl
ENSG00000072778
Chromosome
17
Canonical length
655 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nucleoli,Mitochondria
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

655 residues, UniProt reviewed canonical sequence.

>P49748|ACADVL
     1  MQAARMAASL GRQLLRLGGG SSRLTALLGQ PRPGPARRPY AGGAAQLALD KSDSHPSDAL
    61  TRKKPAKAES KSFAVGMFKG QLTTDQVFPY PSVLNEEQTQ FLKELVEPVS RFFEEVNDPA
   121  KNDALEMVEE TTWQGLKELG AFGLQVPSEL GGVGLCNTQY ARLVEIVGMH DLGVGITLGA
   181  HQSIGFKGIL LFGTKAQKEK YLPKLASGET VAAFCLTEPS SGSDAASIRT SAVPSPCGKY
   241  YTLNGSKLWI SNGGLADIFT VFAKTPVTDP ATGAVKEKIT AFVVERGFGG ITHGPPEKKM
   301  GIKASNTAEV FFDGVRVPSE NVLGEVGSGF KVAMHILNNG RFGMAAALAG TMRGIIAKAV
   361  DHATNRTQFG EKIHNFGLIQ EKLARMVMLQ YVTESMAYMV SANMDQGATD FQIEAAISKI
   421  FGSEAAWKVT DECIQIMGGM GFMKEPGVER VLRDLRIFRI FEGTNDILRL FVALQGCMDK
   481  GKELSGLGSA LKNPFGNAGL LLGEAGKQLR RRAGLGSGLS LSGLVHPELS RSGELAVRAL
   541  EQFATVVEAK LIKHKKGIVN EQFLLQRLAD GAIDLYAMVV VLSRASRSLS EGHPTAQHEK
   601  MLCDTWCIEA AARIREGMAA LQSDPWQQEL YRNFKSISKA LVERGGVVTS NPLGF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACADVL 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
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.3
Highest tissue expression
796 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 796 nTPM
  • tongue: 763 nTPM
  • heart muscle: 579 nTPM
  • liver: 549 nTPM
  • adrenal gland: 435 nTPM
  • duodenum: 289 nTPM

Single-cell type

  • syncytiotrophoblasts: 828 nCPM
  • cardiomyocytes: 799 nCPM
  • esophageal apical cells: 784 nCPM
  • cytotrophoblasts: 557 nCPM
  • esophageal suprabasal cells: 468 nCPM
  • colonocytes: 461 nCPM

Immune cell

  • eosinophil: 122 nTPM
  • myeloid DC: 100 nTPM
  • classical monocyte: 96 nTPM
  • plasmacytoid DC: 81 nTPM
  • total PBMC: 79 nTPM
  • intermediate monocyte: 58 nTPM

Brain region

  • choroid plexus: 172 nTPM
  • thalamus: 93 nTPM
  • basal ganglia: 87 nTPM
  • cerebellum: 82 nTPM
  • medulla oblongata: 82 nTPM
  • midbrain: 77 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ACADVL.

Disease | AllUniProt

Conditions ACADVL is implicated in, by any mechanism.

  • Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) MIM:201475

Disease | GeneticClinVar

508 pathogenic / likely-pathogenic of 2,141 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.05
gnomAD pLI
0
gnomAD missense Z
-0.21
DepMap mean gene effect
-0.03
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ACADVL as an antibody target. Whether an autoantibody or antibody against ACADVL could matter depends on whether native ACADVL is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ACADVL is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ACADVL as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ACADVL. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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