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Aliases for ACADM Gene

Aliases for ACADM Gene

  • Acyl-CoA Dehydrogenase, C-4 To C-12 Straight Chain 2 3 5
  • Acyl-Coenzyme A Dehydrogenase, C-4 To C-12 Straight Chain 2 3
  • MCAD 3 4
  • Acyl-CoA Dehydrogenase C-4 To C-12 Straight Chain 3
  • Testicular Tissue Protein Li 7 3
  • EC 1.3.99.3 63
  • EC 1.3.8.7 4
  • EC 1.3.99 63
  • ACAD1 3
  • MCADH 3

External Ids for ACADM Gene

Previous GeneCards Identifiers for ACADM Gene

  • GC01P076309
  • GC01P075125
  • GC01P075606
  • GC01P075612
  • GC01P075902
  • GC01P076190
  • GC01P074319

Summaries for ACADM Gene

Entrez Gene Summary for ACADM 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]

GeneCards Summary for ACADM Gene

ACADM (Acyl-CoA Dehydrogenase, C-4 To C-12 Straight Chain) is a Protein Coding gene. Diseases associated with ACADM include Acyl-Coa Dehydrogenase, Medium Chain, Deficiency Of and Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Beta oxidation of octanoyl-CoA to hexanoyl-CoA. GO annotations related to this gene include identical protein binding and oxidoreductase activity, acting on the CH-CH group of donors. An important paralog of this gene is ACAD8.

UniProtKB/Swiss-Prot for ACADM Gene

  • Acyl-CoA dehydrogenase specific for acyl chain lengths of 4 to 16 that catalyzes the initial step of fatty acid beta-oxidation. Utilizes the electron transfer flavoprotein (ETF) as an electron acceptor to transfer electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACADM Gene

Genomics for ACADM Gene

Regulatory Elements for ACADM Gene

Enhancers for ACADM Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ACADM on UCSC Golden Path with GeneCards custom track

Promoters for ACADM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACADM on UCSC Golden Path with GeneCards custom track

Genomic Location for ACADM Gene

Chromosome:
1
Start:
75,724,347 bp from pter
End:
75,787,575 bp from pter
Size:
63,229 bases
Orientation:
Plus strand

Genomic View for ACADM Gene

Genes around ACADM on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ACADM Gene

Proteins for ACADM Gene

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

    Protein Symbol:
    P11310-ACADM_HUMAN
    Recommended name:
    Medium-chain specific acyl-CoA dehydrogenase, mitochondrial
    Protein Accession:
    P11310
    Secondary Accessions:
    • Q5T4U4
    • Q9NYF1

    Protein attributes for ACADM Gene

    Size:
    421 amino acids
    Molecular mass:
    46588 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homotetramer. Interacts with the heterodimeric electron transfer flavoprotein ETF.
    Miscellaneous:
    • A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues.

    Three dimensional structures from OCA and Proteopedia for ACADM Gene

    Alternative splice isoforms for ACADM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACADM Gene

Proteomics data for ACADM Gene at MOPED

Post-translational modifications for ACADM Gene

  • Acetylation at Lys-307 and Lys-311 in proximity of the cofactor-binding sites reduces catalytic activity (By similarity). These sites are deacetylated by SIRT3.
  • Ubiquitination at Lys 395
  • Modification sites at PhosphoSitePlus

Domains & Families for ACADM Gene

Gene Families for ACADM Gene

Graphical View of Domain Structure for InterPro Entry

P11310

UniProtKB/Swiss-Prot:

ACADM_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 ACADM: view

Function for ACADM Gene

Molecular function for ACADM Gene

GENATLAS Biochemistry:
acyl-CoA dehydrogenase,medium chain (C6-C12),mitochondrial,fatty acid beta-oxidation
UniProtKB/Swiss-Prot CatalyticActivity:
A medium-chain acyl-CoA + electron-transfer flavoprotein = a medium-chain trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein.
UniProtKB/Swiss-Prot Function:
Acyl-CoA dehydrogenase specific for acyl chain lengths of 4 to 16 that catalyzes the initial step of fatty acid beta-oxidation. Utilizes the electron transfer flavoprotein (ETF) as an electron acceptor to transfer electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase).

Enzyme Numbers (IUBMB) for ACADM Gene

Gene Ontology (GO) - Molecular Function for ACADM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009055 electron carrier activity IBA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
genes like me logo Genes that share ontologies with ACADM: view
genes like me logo Genes that share phenotypes with ACADM: view

Human Phenotype Ontology for ACADM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACADM Gene

MGI Knock Outs for ACADM:

Animal Model Products

CRISPR Products

miRNA for ACADM Gene

miRTarBase miRNAs that target ACADM

No data available for Transcription Factor Targets and HOMER Transcription for ACADM Gene

Localization for ACADM Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACADM Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACADM Gene COMPARTMENTS Subcellular localization image for ACADM gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
cytosol 2
peroxisome 2

No data available for Gene Ontology (GO) - Cellular Components for ACADM Gene

Pathways & Interactions for ACADM Gene

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

UniProtKB/Swiss-Prot P11310-ACADM_HUMAN

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

Gene Ontology (GO) - Biological Process for ACADM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0005978 glycogen biosynthetic process IEA --
GO:0006111 regulation of gluconeogenesis IEA --
GO:0006635 fatty acid beta-oxidation TAS --
GO:0007507 heart development IEA --
genes like me logo Genes that share ontologies with ACADM: view

No data available for SIGNOR curated interactions for ACADM Gene

Drugs & Compounds for ACADM Gene

(19) Drugs for ACADM Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
3-Thiaoctanoyl-Coenzyme A Experimental Pharma Target 0
Octanoyl-Coenzyme A Experimental Pharma Target 0
Methacrylyl-CoA Experimental Pharma 0
myristoyl-coa Experimental Pharma 0

(67) Additional Compounds for ACADM Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
octanoyl-coa
  • Capryloyl-CoA
  • Capryloyl-Coenzyme A
  • Octanoyl-CoA
  • Octanoyl-Coenzyme A
1264-52-4
(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
genes like me logo Genes that share compounds with ACADM: view

Transcripts for ACADM Gene

Unigene Clusters for ACADM Gene

Acyl-CoA dehydrogenase, C-4 to C-12 straight chain:
Representative Sequences:

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

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13
SP1: - - - - - - -
SP2: - - - - - -
SP3: -
SP4:
SP5:
SP6: -
SP7: - -
SP8: - -

Relevant External Links for ACADM Gene

GeneLoc Exon Structure for
ACADM
ECgene alternative splicing isoforms for
ACADM

Expression for ACADM Gene

mRNA expression in normal human tissues for ACADM Gene

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

This gene is overexpressed in Muscle - Skeletal (x4.9) and Heart - Left Ventricle (x4.7).

Protein differential expression in normal tissues from HIPED for ACADM Gene

This gene is overexpressed in Heart (10.0), Kidney (9.5), and Liver (8.8).

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



SOURCE GeneReport for Unigene cluster for ACADM Gene Hs.445040

genes like me logo Genes that share expression patterns with ACADM: view

Protein tissue co-expression partners for ACADM Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ACADM Gene

Orthologs for ACADM Gene

This gene was present in the common ancestor of animals.

Orthologs for ACADM Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ACADM 35
  • 90.63 (n)
  • 90.95 (a)
ACADM 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACADM 35
  • 90.81 (n)
  • 90.98 (a)
ACADM 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acadm 35
  • 82.5 (n)
  • 87.89 (a)
Acadm 16
Acadm 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACADM 35
  • 99.6 (n)
  • 99.52 (a)
ACADM 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acadm 35
  • 81.79 (n)
  • 86.22 (a)
oppossum
(Monodelphis domestica)
Mammalia ACADM 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACADM 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNG11 36
  • 27 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia ACADM 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acadm 35
  • 75.83 (n)
  • 83.94 (a)
Str.7172 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.23817 35
zebrafish
(Danio rerio)
Actinopterygii acadm 35
  • 75.3 (n)
  • 84.72 (a)
Dr.7343 35
acadm 36
  • 79 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9778 35
fruit fly
(Drosophila melanogaster)
Insecta CG12262 37
  • 69 (a)
CG12262 35
  • 61.63 (n)
  • 70.79 (a)
CG12262 36
  • 68 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005662 35
  • 59.74 (n)
  • 70.91 (a)
worm
(Caenorhabditis elegans)
Secernentea C02D5.1 37
  • 29 (a)
C37A2.3 37
  • 29 (a)
K05F1.3 37
  • 61 (a)
T08G2.3 37
  • 64 (a)
T25G12.5 37
  • 63 (a)
acdh-8 35
  • 62.31 (n)
  • 60.3 (a)
acdh-10 36
  • 59 (a)
OneToMany
acdh-7 36
  • 59 (a)
OneToMany
acdh-8 36
  • 58 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 61 (a)
OneToOne
Species with no ortholog for ACADM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 ACADM Gene

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

Paralogs for ACADM Gene

Paralogs for ACADM Gene

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

Variants for ACADM Gene

Sequence variations from dbSNP and Humsavar for ACADM Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_000317 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
VAR_000319 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
VAR_000320 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
VAR_000321 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)
VAR_000322 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)

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

Variant ID Type Subtype PubMed ID
nsv519329 CNV Gain 19592680
nsv870520 CNV Loss 21882294
nsv830281 CNV Loss 17160897
nsv871572 CNV Gain 21882294

Variation tolerance for ACADM Gene

Residual Variation Intolerance Score: 45.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.26; 25.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACADM Gene

Human Gene Mutation Database (HGMD)
ACADM

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

Disorders for ACADM Gene

MalaCards: The human disease database

(26) MalaCards diseases for ACADM Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ACADM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACADM_HUMAN
  • Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]: An inborn error of mitochondrial fatty acid beta-oxidation which causes fasting hypoglycemia, hepatic dysfunction and encephalopathy, often resulting in death in infancy. {ECO:0000269 PubMed:10767181, ECO:0000269 PubMed:11349232, ECO:0000269 PubMed:11409868, ECO:0000269 PubMed:11486912, ECO:0000269 PubMed:1671131, ECO:0000269 PubMed:1684086, ECO:0000269 PubMed:1902818, ECO:0000269 PubMed:2251268, ECO:0000269 PubMed:2393404, ECO:0000269 PubMed:2394825, ECO:0000269 PubMed:7603790, ECO:0000269 PubMed:7929823, ECO:0000269 PubMed:8198141, ECO:0000269 PubMed:9158144}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ACADM Gene

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

Relevant External Links for ACADM

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

Publications for ACADM Gene

  1. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. (PMID: 11349232) Andresen B.S. … Gregersen N. (Am. J. Hum. Genet. 2001) 3 4 23 48 67
  2. A985G mutation incidence in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Brazil. (PMID: 19551636) Ferreira A.C. … Godard A.L. (Genet. Mol. Res. 2009) 3 23
  3. A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns. (PMID: 19649258) ter Veld F. … Spiekerkoetter U. (PLoS ONE 2009) 3 23
  4. Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency. (PMID: 18188679) Derks T.G. … Reijngoud D.J. (J. Inherit. Metab. Dis. 2008) 3 23
  5. Acute liver failure in pregnancy associated with maternal MCAD deficiency. (PMID: 17186412) Santos L. … Henderson M. (J. Inherit. Metab. Dis. 2007) 3 23

Products for ACADM Gene

Sources for ACADM Gene

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