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ACADM acyl-CoA dehydrogenase medium chain [ Homo sapiens (human) ]

Gene ID: 34, updated on 12-Aug-2018

Summary

Official Symbol
ACADMprovided by HGNC
Official Full Name
acyl-CoA dehydrogenase medium chainprovided by HGNC
Primary source
HGNC:HGNC:89
See related
Ensembl:ENSG00000117054 MIM:607008; Vega:OTTHUMG00000009784
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MCAD; ACAD1; MCADH
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 85.4), heart (RPKM 68.4) and 25 other tissues See more
Orthologs

Genomic context

See ACADM in Genome Data Viewer
Location:
1p31.1
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (75724347..75763679)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (76190043..76229355)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 44 member 5 Neighboring gene ribosomal protein L29 pseudogene 5 Neighboring gene diphosphoinositol pentakisphosphate kinase 2 pseudogene Neighboring gene dihydrolipoamide S-succinyltransferase pseudogene 1 Neighboring gene small nucleolar RNA, C/D box 45C Neighboring gene small nucleolar RNA, C/D box 45A Neighboring gene Rab geranylgeranyltransferase subunit beta

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide perspective of genetic variation in human metabolism.
NHGRI GWA Catalog
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Human metabolic individuality in biomedical and pharmaceutical research.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ18227, FLJ93013, FLJ99884

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acyl-CoA dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
acyl-CoA dehydrogenase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
acyl-CoA dehydrogenase activity TAS
Traceable Author Statement
more info
 
flavin adenine dinucleotide binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
medium-chain-acyl-CoA dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
medium-chain-acyl-CoA dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
carnitine biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
carnitine metabolic process, CoA-linked IMP
Inferred from Mutant Phenotype
more info
PubMed 
fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid beta-oxidation IMP
Inferred from Mutant Phenotype
more info
PubMed 
fatty acid beta-oxidation TAS
Traceable Author Statement
more info
 
fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA
Inferred from Direct Assay
more info
PubMed 
fatty acid beta-oxidation using acyl-CoA dehydrogenase IMP
Inferred from Mutant Phenotype
more info
PubMed 
medium-chain fatty acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
medium-chain fatty acid catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
medium-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of lipid metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
axon IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleus HDA PubMed 

General protein information

Preferred Names
medium-chain specific acyl-CoA dehydrogenase, mitochondrial
Names
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
medium-chain acyl-CoA dehydrogenase
testicular tissue protein Li 7
NP_000007.1
NP_001120800.1
NP_001272971.1
NP_001272972.1
NP_001272973.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007045.2 RefSeqGene

    Range
    4990..44322
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_838

mRNA and Protein(s)

  1. NM_000016.5NP_000007.1  medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_000007.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a.
    Source sequence(s)
    AL357314, BC005377
    Consensus CDS
    CCDS668.1
    UniProtKB/Swiss-Prot
    P11310
    UniProtKB/TrEMBL
    A0A0S2Z366
    Related
    ENSP00000359878.4, OTTHUMP00000011345, ENST00000370841.8, OTTHUMT00000026967
    Conserved Domains (1) summary
    cd01157
    Location:41418
    MCAD; Medium chain acyl-CoA dehydrogenase
  2. NM_001127328.2NP_001120800.1  medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform b precursor

    See identical proteins and their annotated locations for NP_001120800.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is longer than isoform a.
    Source sequence(s)
    AF251043, AL357314
    Consensus CDS
    CCDS44165.1
    UniProtKB/Swiss-Prot
    P11310
    Related
    ENSP00000409612.2, OTTHUMP00000232508, ENST00000420607.6, OTTHUMT00000388952
    Conserved Domains (2) summary
    cd01157
    Location:45422
    MCAD; Medium chain acyl-CoA dehydrogenase
    COG1960
    Location:43424
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
  3. NM_001286042.1NP_001272971.1  medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform c

    See identical proteins and their annotated locations for NP_001272971.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks an exon in the 5' coding region. These difference cause translation initiation at an alternate start codon compared to variant 1. The encoded isoform (c) is shorter and has a distinct N-terminus compared to isoform (a).
    Source sequence(s)
    AK315946, AL357314, DB055575
    Consensus CDS
    CCDS65562.1
    UniProtKB/TrEMBL
    B7Z9I1
    Related
    ENSP00000442324.1, ENST00000541113.5
    Conserved Domains (2) summary
    cd01157
    Location:5382
    MCAD; Medium chain acyl-CoA dehydrogenase
    COG1960
    Location:1384
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
  4. NM_001286043.1NP_001272972.1  medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform d precursor

    See identical proteins and their annotated locations for NP_001272972.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate in-frame exon in the central coding region compared to variant 1. The encoded isoform (d) is longer than isoform 1.
    Source sequence(s)
    AL357314, BX647734
    Consensus CDS
    CCDS72807.1
    UniProtKB/TrEMBL
    Q5HYG7, Q5T4U5
    Related
    ENSP00000359871.5, OTTHUMP00000011346, ENST00000370834.9, OTTHUMT00000026968
    Conserved Domains (2) summary
    cd01157
    Location:41451
    MCAD; Medium chain acyl-CoA dehydrogenase
    COG1960
    Location:39453
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
  5. NM_001286044.1NP_001272973.1  medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform e

    See identical proteins and their annotated locations for NP_001272973.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate 5' structure that results in the use downstream AUG compared to variant 1. The encoded isoform (e) has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AK296045, AL357314
    UniProtKB/TrEMBL
    B4DJE7
    Conserved Domains (2) summary
    COG1960
    Location:1231
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
    cl09933
    Location:1229
    ACAD; Acyl-CoA dehydrogenase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    75724347..75763679
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_022013.1: Suppressed sequence

    Description
    NR_022013.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
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