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Aliases for ACADL Gene

Aliases for ACADL Gene

  • Acyl-CoA Dehydrogenase, Long Chain 2 3 5
  • Acyl-Coenzyme A Dehydrogenase, Long Chain 2 3
  • LCAD 3 4
  • Long-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial 3
  • EC 1.3.99.13 61
  • EC 1.3.8.8 4
  • EC 1.3.99 61
  • ACAD4 3

External Ids for ACADL Gene

Previous GeneCards Identifiers for ACADL Gene

  • GC02M209328
  • GC02M209777
  • GC02M211016
  • GC02M211255
  • GC02M210878
  • GC02M210760
  • GC02M202897
  • GC02M211052

Summaries for ACADL Gene

Entrez Gene Summary for ACADL Gene

  • The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008]

GeneCards Summary for ACADL Gene

ACADL (Acyl-CoA Dehydrogenase, Long Chain) is a Protein Coding gene. Diseases associated with ACADL include Lcad Deficiency and Acyl-Coa Dehydrogenase, Medium Chain, Deficiency Of. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Fatty acid metabolism. GO annotations related to this gene include flavin adenine dinucleotide binding and fatty-acyl-CoA binding. An important paralog of this gene is ACADSB.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACADL Gene

Genomics for ACADL Gene

Regulatory Elements for ACADL Gene

Enhancers for ACADL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G209988 0.8 Ensembl 10.5 +237.2 237191 0.2 HDAC1 TAL1 CCNT2 TCF12 FOXM1 GATA2 NCOR1 SIRT6 NFE2 CREM ACADL RPE GC02M209861
GH02G210195 0.7 Ensembl 10.8 +30.1 30091 0.4 ELF3 SCRT1 CTCF ZNF654 NFIA TRIM22 REST RAD21 ZGPAT SCRT2 RPE KANSL1L ACADL ENSG00000279317
GH02G209960 0.7 ENCODE 9.9 +264.8 264779 1.3 CTCF ZNF654 ZSCAN4 TRIM22 YBX1 CHD7 ZIC2 RAD21 SMC3 ZNF143 ACADL RPE GC02M209861
GH02G210560 1.2 FANTOM5 ENCODE dbSUPER 4.1 -336.5 -336454 3.5 TBP TAF1 HLF CEBPB CEBPG EP300 YY1 MBD2 GATA3 JUND CPS1 ACADL GC02M210562
GH02G210532 0.4 dbSUPER 9.6 -308.1 -308123 2.1 MAFK CPS1 ACADL GC02M210562
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACADL on UCSC Golden Path with GeneCards custom track

Promoters for ACADL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000129636 490 800 ZNF76 ZNF48 YY1 ZNF121 GLIS2 SCRT2 ZNF263 ZEB2 ZFP69B GLIS1

Genomic Location for ACADL Gene

Chromosome:
2
Start:
210,187,939 bp from pter
End:
210,225,491 bp from pter
Size:
37,553 bases
Orientation:
Minus strand

Genomic View for ACADL Gene

Genes around ACADL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACADL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACADL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACADL Gene

Proteins for ACADL Gene

  • Protein details for ACADL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28330-ACADL_HUMAN
    Recommended name:
    Long-chain specific acyl-CoA dehydrogenase, mitochondrial
    Protein Accession:
    P28330
    Secondary Accessions:
    • B2R8T3
    • Q8IUN8

    Protein attributes for ACADL Gene

    Size:
    430 amino acids
    Molecular mass:
    47656 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homotetramer.
    Miscellaneous:
    • A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues.

neXtProt entry for ACADL Gene

Selected DME Specific Peptides for ACADL Gene

P28330:
  • EFMFEETRNYV
  • KGRKLHK
  • TEPGAGSD

Post-translational modifications for ACADL Gene

  • Acetylation at Lys-318 and Lys-322 in proximity of the cofactor-binding sites strongly reduces catalytic activity. These sites are deacetylated by SIRT3 (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACADL Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ACADL Gene

Gene Families for ACADL Gene

Suggested Antigen Peptide Sequences for ACADL Gene

Graphical View of Domain Structure for InterPro Entry

P28330

UniProtKB/Swiss-Prot:

ACADL_HUMAN :
  • Belongs to the acyl-CoA dehydrogenase family.
Family:
  • Belongs to the acyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with ACADL: view

Function for ACADL Gene

Molecular function for ACADL Gene

GENATLAS Biochemistry:
acyl-CoA dehydrogenase,long chain (C10-C18),mitochondrial,fatty acid beta-oxidation
UniProtKB/Swiss-Prot CatalyticActivity:
Long-chain-acyl-CoA + electron-transfer flavoprotein = long-chain-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein.

Enzyme Numbers (IUBMB) for ACADL Gene

Gene Ontology (GO) - Molecular Function for ACADL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IEA --
GO:0003995 acyl-CoA dehydrogenase activity TAS --
GO:0004466 long-chain-acyl-CoA dehydrogenase activity ISS,TAS --
GO:0016401 palmitoyl-CoA oxidase activity ISS --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with ACADL: view
genes like me logo Genes that share phenotypes with ACADL: view

Animal Models for ACADL Gene

MGI Knock Outs for ACADL:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ACADL

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ACADL Gene

Localization for ACADL Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACADL Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACADL gene
Compartment Confidence
mitochondrion 5
cytosol 3
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ACADL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with ACADL: view

Pathways & Interactions for ACADL Gene

genes like me logo Genes that share pathways with ACADL: view

UniProtKB/Swiss-Prot P28330-ACADL_HUMAN

  • Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation.

Gene Ontology (GO) - Biological Process for ACADL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001659 temperature homeostasis ISS --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation TAS --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ACADL: view

No data available for SIGNOR curated interactions for ACADL Gene

Drugs & Compounds for ACADL Gene

(6) Drugs for ACADL Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
myristoyl-coa Experimental Pharma 0
Propionyl-CoA Experimental Pharma 0

(36) Additional Compounds for ACADL Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
38795-33-4
genes like me logo Genes that share compounds with ACADL: view

Transcripts for ACADL Gene

Unigene Clusters for ACADL Gene

Acyl-CoA dehydrogenase, long chain:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ACADL

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACADL Gene

No ASD Table

Relevant External Links for ACADL Gene

GeneLoc Exon Structure for
ACADL
ECgene alternative splicing isoforms for
ACADL

Expression for ACADL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACADL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACADL Gene

This gene is overexpressed in Artery - Tibial (x5.8), Pancreas (x4.8), Thyroid (x4.2), Nerve - Tibial (x4.1), and Artery - Aorta (x4.0).

Protein differential expression in normal tissues from HIPED for ACADL Gene

This gene is overexpressed in Liver (13.5), Islet of Langerhans (10.4), Gallbladder (9.8), Kidney (9.3), and Lung (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ACADL Gene



NURSA nuclear receptor signaling pathways regulating expression of ACADL Gene:

ACADL

SOURCE GeneReport for Unigene cluster for ACADL Gene:

Hs.471277

Evidence on tissue expression from TISSUES for ACADL Gene

  • Liver(4.4)
  • Nervous system(4.1)
  • Intestine(4)
genes like me logo Genes that share expression patterns with ACADL: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACADL Gene

Orthologs for ACADL Gene

This gene was present in the common ancestor of animals.

Orthologs for ACADL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACADL 34 35
  • 99.77 (n)
cow
(Bos Taurus)
Mammalia ACADL 34 35
  • 86.74 (n)
dog
(Canis familiaris)
Mammalia ACADL 34 35
  • 86.74 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACADL 35
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acadl 34
  • 83.92 (n)
mouse
(Mus musculus)
Mammalia Acadl 34 16 35
  • 83.84 (n)
oppossum
(Monodelphis domestica)
Mammalia ACADL 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACADL 34 35
  • 73.83 (n)
lizard
(Anolis carolinensis)
Reptilia ACADL 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acadl 34
  • 72.47 (n)
Str.8318 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.5962 34
zebrafish
(Danio rerio)
Actinopterygii acadl 34 35
  • 68.6 (n)
zgc55656 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10227 34
worm
(Caenorhabditis elegans)
Secernentea C37A2.3 36
  • 32 (a)
C02D5.1 36
  • 31 (a)
acdh-6 35
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2732 35
  • 64 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4861 34
Species where no ortholog for ACADL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACADL Gene

ENSEMBL:
Gene Tree for ACADL (if available)
TreeFam:
Gene Tree for ACADL (if available)

Paralogs for ACADL Gene

Paralogs for ACADL Gene

(7) SIMAP similar genes for ACADL Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ACADL: view

Variants for ACADL Gene

Sequence variations from dbSNP and Humsavar for ACADL Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs61731470 Likely benign 210,220,767(+) AAGGA(A/G)TTTCT reference, missense, utr-variant-5-prime
rs77160779 Likely benign 210,205,746(+) TTTGT(A/G)ACCGC reference, synonymous-codon
rs148069105 Uncertain significance 210,203,376(+) TTAAC(A/G)TAGTT reference, synonymous-codon
rs149291223 Uncertain significance 210,188,237(+) TATAA(A/G)ATGTA utr-variant-3-prime
rs150844488 Uncertain significance 210,205,779(+) AATGA(A/C/T)CCATT reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for ACADL Gene

Variant ID Type Subtype PubMed ID
esv3449244 CNV insertion 20981092
nsv1012567 CNV gain 25217958

Variation tolerance for ACADL Gene

Residual Variation Intolerance Score: 65.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.43; 85.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACADL Gene

Human Gene Mutation Database (HGMD)
ACADL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACADL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACADL Gene

Disorders for ACADL Gene

MalaCards: The human disease database

(9) MalaCards diseases for ACADL Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lcad deficiency
  • acadl deficiency
acyl-coa dehydrogenase, medium chain, deficiency of
  • acyl-coa dehydrogenase, medium-chain, deficiency of
hypoglycemia
  • hypoglycaemia
holocarboxylase synthetase deficiency
  • biotin- ligase deficiency
vlcad deficiency
  • acyl-coa dehydrogenase, very long-chain, deficiency of
- elite association - COSMIC cancer census association via MalaCards
Search ACADL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACADL_HUMAN
  • Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]: An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ACADL Gene

dicarboxylic aciduria,non ketotic hypoglycemia ,Reye-like syndrome,sudden infant death syndrome

Relevant External Links for ACADL

Genetic Association Database (GAD)
ACADL
Human Genome Epidemiology (HuGE) Navigator
ACADL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACADL
genes like me logo Genes that share disorders with ACADL: view

Publications for ACADL Gene

  1. Molecular cloning and nucleotide sequence of cDNAs encoding human long-chain acyl-CoA dehydrogenase and assignment of the location of its gene (ACADL) to chromosome 2. (PMID: 1774065) Indo Y. … Tanaka K. (Genomics 1991) 2 3 4 22 64
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. Low expression of long-chain acyl-CoA dehydrogenase in human skeletal muscle. (PMID: 20363655) Maher A.C. … Tarnopolsky M.A. (Mol. Genet. Metab. 2010) 3 22 64
  5. A genome-wide perspective of genetic variation in human metabolism. (PMID: 20037589) Illig T. … Suhre K. (Nat. Genet. 2010) 3 46 64

Products for ACADL Gene

Sources for ACADL Gene

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