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ACAD8 acyl-CoA dehydrogenase family member 8 [ Homo sapiens (human) ]

Gene ID: 27034, updated on 8-Dec-2018

Summary

Official Symbol
ACAD8provided by HGNC
Official Full Name
acyl-CoA dehydrogenase family member 8provided by HGNC
Primary source
HGNC:HGNC:87
See related
Ensembl:ENSG00000151498 MIM:604773
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
ARC42; ACAD-8
Summary
This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009]
Expression
Ubiquitous expression in thyroid (RPKM 16.8), prostate (RPKM 12.2) and 25 other tissues See more
Orthologs

Genomic context

See ACAD8 in Genome Data Viewer
Location:
11q25
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (134253538..134265858)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (134123428..134135749)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene non-SMC condensin II complex subunit D3 Neighboring gene VPS26, retromer complex component B Neighboring gene thymocyte nuclear protein 1 Neighboring gene galactosidase beta 1 like 3 Neighboring gene ATPase H+/K+ transporting subunit beta pseudogene Neighboring gene galactosidase beta 1 like 2

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Deficiency of isobutyryl-CoA dehydrogenase
MedGen: C1969809 OMIM: 611283 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22590

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acyl-CoA dehydrogenase activity EXP
Inferred from Experiment
more info
PubMed 
flavin adenine dinucleotide binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
branched-chain amino acid catabolic process TAS
Traceable Author Statement
more info
 
lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
valine catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
isobutyryl-CoA dehydrogenase, mitochondrial
Names
activator-recruited cofactor 42 kDa component
acyl-Coenzyme A dehydrogenase family, member 8

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_015842.1 RefSeqGene

    Range
    5001..17316
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_448

mRNA and Protein(s)

  1. NM_014384.2NP_055199.1  isobutyryl-CoA dehydrogenase, mitochondrial

    See identical proteins and their annotated locations for NP_055199.1

    Status: REVIEWED

    Source sequence(s)
    AK026243, AK074640, BC001964, BI549961
    Consensus CDS
    CCDS8498.1
    UniProtKB/Swiss-Prot
    Q9UKU7
    Related
    ENSP00000281182.4, ENST00000281182.8
    Conserved Domains (2) summary
    cd01162
    Location:41415
    IBD; Isobutyryl-CoA dehydrogenase
    COG1960
    Location:39413
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    134253538..134265858
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017546.2XP_016873035.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X5

  2. XM_005271505.4XP_005271562.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X9

    Conserved Domains (2) summary
    COG1960
    Location:39236
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
    cl09933
    Location:41236
    ACAD; Acyl-CoA dehydrogenase
  3. XM_024448437.1XP_024304205.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X1

    Conserved Domains (1) summary
    cd01162
    Location:41387
    IBD; Isobutyryl-CoA dehydrogenase
  4. XM_017017549.2XP_016873038.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X9

    Conserved Domains (2) summary
    COG1960
    Location:39236
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
    cl09933
    Location:41236
    ACAD; Acyl-CoA dehydrogenase
  5. XM_017017545.2XP_016873034.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X4

  6. XM_017017543.2XP_016873032.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X3

    Conserved Domains (2) summary
    cd01162
    Location:41398
    IBD; Isobutyryl-CoA dehydrogenase
    COG1960
    Location:39398
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
  7. XM_017017542.2XP_016873031.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X2

    Conserved Domains (2) summary
    cd01162
    Location:41398
    IBD; Isobutyryl-CoA dehydrogenase
    COG1960
    Location:39398
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
  8. XM_017017544.2XP_016873033.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X4

  9. XM_011542750.3XP_011541052.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X2

    Conserved Domains (2) summary
    cd01162
    Location:41398
    IBD; Isobutyryl-CoA dehydrogenase
    COG1960
    Location:39398
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]
  10. XM_017017548.2XP_016873037.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X8

  11. XM_017017547.2XP_016873036.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X7

  12. XM_024448438.1XP_024304206.1  isobutyryl-CoA dehydrogenase, mitochondrial isoform X6

    Conserved Domains (1) summary
    cl09933
    Location:1271
    ACAD; Acyl-CoA dehydrogenase
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