ACADSB acyl-CoA dehydrogenase, short/branched chain [Homo sapiens (human)] - Gene

Summary

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Official Symbol: ACADSBprovided by HGNC
Official Full Name: acyl-CoA dehydrogenase, short/branched chainprovided by HGNC
Primary source: HGNC:91
Locus tag: RP11-162A23.1
See related: Ensembl:ENSG00000196177; HPRD:02626; MIM:600301; Vega:OTTHUMG00000019200
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: ACAD7; SBCAD; 2-MEBCAD
Summary: Short/branched chain acyl-CoA dehydrogenase(ACADSB) is 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. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 10q26.13

Sequence :: Chromosome: 10; NC_000010.10 (124768429..124817806)

See ACADSB in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients
Title: Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients
Title: Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
These findings confirm that SBCAD deficiency can be identified through newborn screening by acylcarnitine analysis.
Title: Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide association study of circulating vitamin D levels.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Results indicate that substrate redox activation occurs in short-chain acyl-CoA dehydrogenase leading to a large enzyme midpoint potential shift.
Title: Thermodynamic regulation of human short-chain acyl-CoA dehydrogenase by substrate and product binding.
Results examine the mechanistic basis for dysfunction of the common variant short-chain acyl-CoA dehydrogenases and demonstrate that mutations can have a large impact on the redox properties of the enzyme.
Title: Biochemical and electrochemical characterization of two variant human short-chain acyl-CoA dehydrogenases.
Differences between the rat and human enzyme at positions 383, 222, and 220 alter substrate specificity without affecting substrate binding.
Title: A novel approach to the characterization of substrate specificity in short/branched chain Acyl-CoA dehydrogenase.
Identification and characterization of an IVS3+3A>G mutation (c.303+3A>G) in the SBCAD gene, and provide evidence that this mutation is disease-causing.
Title: Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Deficiency of 2-methylbutyryl-CoA dehydrogenase

MIM: 610006

Genetic Testing Registry

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:106554	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106554	BioGRID:115791	UBD	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106554	BioGRID:116078	USP19	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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Branched-chain amino acid catabolism, organism-specific biosystem (from REACTOME)
Branched-chain amino acid catabolism, organism-specific biosystemThe branched-chain amino acids, leucine, isoleucine, and valine, are all essential amino acids (i.e., ones required in the diet). They are major constituents of muscle protein. The breakdown of these...
Fatty acid metabolism, organism-specific biosystem (from KEGG)
Fatty acid metabolism, organism-specific biosystem
Fatty acid metabolism
Fatty acid metabolism, conserved biosystem (from KEGG)
Fatty acid metabolism, conserved biosystem
Fatty acid metabolism
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
Valine, leucine and isoleucine degradation, organism-specific biosystem (from KEGG)
Valine, leucine and isoleucine degradation, organism-specific biosystem
Valine, leucine and isoleucine degradation
Valine, leucine and isoleucine degradation, conserved biosystem (from KEGG)
Valine, leucine and isoleucine degradation, conserved biosystem
Valine, leucine and isoleucine degradation
isoleucine degradation I, organism-specific biosystem (from BIOCYC)
isoleucine degradation I, organism-specific biosystem: ILE is one of the three main branched chain amino acids (BCAAs), along with : LEU and :VAL. The catabolic pathways of the BCAAs can be divided into two sequential series of reactions, referred to a...
valine degradation I, organism-specific biosystem (from BIOCYC)
valine degradation I, organism-specific biosystem: VAL is one of the three main branched chain amino acids (BCAAs), along with : LEU and : ILE. The catabolic pathways of the BCAAs can be divided into two sequential series of reactions, referred to ...

General gene information

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Markers

D10S1297E (e-PCR)
- UniSTS:151330

RH68878 (e-PCR)
- UniSTS:23377

RH44700 (e-PCR)
- UniSTS:68725

SHGC-13269 (e-PCR)
- UniSTS:55430

D21S1698 (e-PCR)
- UniSTS:150410

SHGC-35255 (e-PCR)
- UniSTS:32151

D10S2417 (e-PCR)
- UniSTS:5808

WI-18655 (e-PCR)
- UniSTS:25297

ACADSB_201 (e-PCR)
- UniSTS:276958

RH44778 (e-PCR)
- UniSTS:45282

RH70481 (e-PCR)
- UniSTS:52967

Genotypes

See ACADSB SNP Geneview Report
See ACADSB SNP Genotype Report
See ACADSB SNP Variation Viewer Report

Homology

Homologs of the ACADSB gene: The ACADSB gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, fruit fly, mosquito, C.elegans, M.oryzae, and N.crassa.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
acyl-CoA dehydrogenase activity	EXP Inferred from Experiment more info
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
cellular nitrogen compound metabolic process	TAS Traceable Author Statement more info
fatty acid metabolic process	IEA Inferred from Electronic Annotation more info
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
mitochondrial matrix	TAS Traceable Author Statement more info
mitochondrion	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: short/branched chain specific acyl-CoA dehydrogenase, mitochondrial

Names: short/branched chain specific acyl-CoA dehydrogenase, mitochondrial; 2-methylbutyryl-coenzyme A dehydrogenase; 2-methyl branched chain acyl-CoA dehydrogenase; acyl-Coenzyme A dehydrogenase, short/branched chain

NP_001600.1

EC 1.3.8.5

NCBI Reference Sequences (RefSeq)

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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

NG_008003.1 RefSeqGene

Range

5001..54378

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_451

mRNA and Protein(s)

NM_001609.3 → NP_001600.1 short/branched chain specific acyl-CoA dehydrogenase, mitochondrial precursor

Status: REVIEWED

Source sequence(s)

AC012391, BC013756, DA964130, U12778

Consensus CDS

CCDS7634.1

UniProtKB/Swiss-Prot

P45954

Related

ENSP00000357873, OTTHUMP00000020685, ENST00000358776, OTTHUMT00000050843

Conserved Domains (2) summary

COG1960
Location:57 – 428
Blast Score: 873

CaiA; Acyl-CoA dehydrogenases [Lipid metabolism]

cd01158
Location:59 – 430
Blast Score: 1628

SCAD_SBCAD; Short chain acyl-CoA dehydrogenases and eukaryotic short/branched chain acyl-CoA dehydrogenases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000010.10 Reference GRCh37.p10 Primary Assembly

Range

124768429..124817806

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

118386177..118435556

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018921.1 Alternate CHM1_1.0

Range

125114855..125164278

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01062838.1 (77637..127016)	None
genomic	AC012391.10 (2077..10828)	None
genomic	AC073585.8	None
genomic	AF260678.1	AAF97921.1
genomic	AL731666.6	None
genomic	AMYH01003144.1 (28158..64372)	None
genomic	AMYH01003145.1	None
genomic	CH471066.2	EAW49291.1
mRNA	AK298638.1	BAG60813.1
mRNA	AK314241.1	BAG36909.1
mRNA	AL831821.2	CAD38535.2
mRNA	BC013756.1	AAH13756.1
mRNA	BC020931.1	None
mRNA	BC032395.1	None
mRNA	BC045723.1	None
mRNA	BE875638.1	None
mRNA	DA964130.1	None
mRNA	U12778.1	AAA74424.1
other-genetic	HQ447278.1	ADQ31765.1