Gene/Proteome Database (LMPD)

LMPD ID
LMP001128
Gene ID
27034
Species
Homo sapiens (Human)
Gene Name
acyl-CoA dehydrogenase family, member 8
Gene Symbol
ACAD8
Synonyms
ACAD-8; ARC42
Alternate Names
isobutyryl-CoA dehydrogenase, mitochondrial; activator-recruited cofactor 42 kDa component; acyl-Coenzyme A dehydrogenase family, member 8
Chromosome
11
Map Location
11q25
EC Number
1.3.99.-
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]
Orthologs
View orthologs and multiple alignments for ACAD8

Proteins

isobutyryl-CoA dehydrogenase, mitochondrial
Refseq ID NP_055199
Protein GI 7656849
UniProt ID Q9UKU7
mRNA ID NM_014384
Length 415
RefSeq Status REVIEWED
MLWSGCRRFGARLGCLPGGLRVLVQTGHRSLTSCIDPSMGLNEEQKEFQKVAFDFAAREMAPNMAEWDQKELFPVDVMRKAAQLGFGGVYIQTDVGGSGLSRLDTSVIFEALATGCTSTTAYISIHNMCAWMIDSFGNEEQRHKFCPPLCTMEKFASYCLTEPGSGSDAASLLTSAKKQGDHYILNGSKAFISGAGESDIYVVMCRTGGPGPKGISCIVVEKGTPGLSFGKKEKKVGWNSQPTRAVIFEDCAVPVANRIGSEGQGFLIAVRGLNGGRINIASCSLGAAHASVILTRDHLNVRKQFGEPLASNQYLQFTLADMATRLVAARLMVRNAAVALQEERKDAVALCSMAKLFATDECFAICNQALQMHGGYGYLKDYAVQQYVRDSRVHQILEGSNEVMRILISRSLLQE

Gene Information

Entrez Gene ID
27034
Gene Name
acyl-CoA dehydrogenase family, member 8
Gene Symbol
ACAD8
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005759 TAS:Reactome C mitochondrial matrix
GO:0003995 EXP:Reactome F acyl-CoA dehydrogenase activity
GO:0050660 IEA:InterPro F flavin adenine dinucleotide binding
GO:0009083 TAS:Reactome P branched-chain amino acid catabolic process
GO:0034641 TAS:Reactome P cellular nitrogen compound metabolic process
GO:0006629 TAS:ProtInc P lipid metabolic process
GO:0006355 IEA:UniProtKB-KW P regulation of transcription, DNA-templated
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0006351 IEA:UniProtKB-KW P transcription, DNA-templated
GO:0006574 IEA:UniProtKB-UniPathway P valine catabolic process

KEGG Pathway Links

KEGG Pathway ID Description
hsa01100 Metabolic pathways
hsa00280 Valine, leucine and isoleucine degradation

BIOCYC Pathway Links

BIOCYC Pathway ID Description
VALDEG-PWY valine degradation I

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_197 Branched-chain amino acid catabolism

Domain Information

InterPro Annotations

Accession Description
IPR006089 Acyl-CoA dehydrogenase, conserved site
IPR009075 Acyl-CoA dehydrogenase/oxidase C-terminal
IPR013786 Acyl-CoA dehydrogenase/oxidase, N-terminal
IPR009100 Acyl-CoA dehydrogenase/oxidase, N-terminal and middle domain
IPR006091 Acyl-CoA oxidase/dehydrogenase, central domain

UniProt Annotations

Entry Information

Gene Name
acyl-CoA dehydrogenase family, member 8
Protein Entry
ACAD8_HUMAN
UniProt ID
Q9UKU7
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9UKU7-1; Sequence=Displayed; Name=2; IsoId=Q9UKU7-2; Sequence=VSP_055780, VSP_055781; Note=No experimental confirmation available.; Name=3; IsoId=Q9UKU7-3; Sequence=VSP_055779, VSP_055782; Note=No experimental confirmation available.;
Catalytic Activity Isobutyryl-CoA + ETF = methylacrylyl-CoA + reduced ETF.
Cofactor Name=FAD; Xref=ChEBI
Disease Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM
Function Has very high activity toward isobutyryl-CoA. Is an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Plays a role in transcriptional coactivation within the ARC complex.
Pathway Amino-acid degradation; L-valine degradation.
Similarity Belongs to the acyl-CoA dehydrogenase family.
Subcellular Location Mitochondrion .
Subunit Homotetramer, formed by a dimer of dimers. Subunit of the large multiprotein complex ARC/DRIP. {ECO
Tissue Specificity Detected at comparable levels in all tissues examined (heart, lung, brain, skeletal muscle, pancreas and placenta). Weakly expressed in liver and kidney.

Identical and Related Proteins

Unique RefSeq proteins for LMP001128 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
7656849 RefSeq NP_055199 415 isobutyryl-CoA dehydrogenase, mitochondrial

Identical Sequences to LMP001128 proteins

Reference Database Accession Length Protein Name
GI:7656849 GenBank AAF97922.1 415 acyl-CoA dehydrogenase 8 [Homo sapiens]
GI:7656849 GenBank AAW11822.1 415 Sequence 13 from patent US 6808895
GI:7656849 GenBank EAW67835.1 415 acyl-Coenzyme A dehydrogenase family, member 8, isoform CRA_c [Homo sapiens]
GI:7656849 GenBank AEF64190.1 415 Sequence 225 from patent US 7932032
GI:7656849 GenBank AFN90292.1 415 Sequence 225 from patent US 8198025
GI:7656849 SwissProt Q9UKU7.1 415 RecName: Full=Isobutyryl-CoA dehydrogenase, mitochondrial; AltName: Full=Activator-recruited cofactor 42 kDa component; Short=ARC42; AltName: Full=Acyl-CoA dehydrogenase family member 8; Short=ACAD-8; Flags: Precursor [Homo sapiens]

Related Sequences to LMP001128 proteins

Reference Database Accession Length Protein Name
GI:7656849 GenBank AAH01964.1 415 Acyl-Coenzyme A dehydrogenase family, member 8 [Homo sapiens]
GI:7656849 GenBank ABM82019.1 415 acyl-Coenzyme A dehydrogenase family, member 8 [synthetic construct]
GI:7656849 GenBank ABM85201.1 415 acyl-Coenzyme A dehydrogenase family, member 8, partial [synthetic construct]
GI:7656849 GenBank ACM84665.1 444 Sequence 10163 from patent US 6812339
GI:7656849 GenBank JAA02603.1 415 acyl-CoA dehydrogenase family, member 8 [Pan troglodytes]
GI:7656849 RefSeq XP_508872.3 415 PREDICTED: isobutyryl-CoA dehydrogenase, mitochondrial isoform X5 [Pan troglodytes]