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

Gene ID: 36, updated on 2-Mar-2024

Summary

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Official Symbol
ACADSBprovided by HGNC
Official Full Name
acyl-CoA dehydrogenase short/branched chainprovided by HGNC
Primary source
HGNC:HGNC:91
See related
Ensembl:ENSG00000196177 MIM:600301; AllianceGenome:HGNC:91
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]
Expression
Broad expression in liver (RPKM 72.3), kidney (RPKM 32.5) and 16 other tissues See more
Orthologs
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Genomic context

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See ACADSB in Genome Data Viewer
Location:
10q26.13
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (123009006..123058290)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (123884001..123933301)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (124768522..124817806)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4143 Neighboring gene phosphoseryl-tRNA kinase Neighboring gene ReSE screen-validated silencer GRCh37_chr10:124760713-124760899 Neighboring gene IKAROS family zinc finger 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4145 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:124776916-124777782 Neighboring gene Sharpr-MPRA regulatory region 2783 Neighboring gene Sharpr-MPRA regulatory region 13327 Neighboring gene VISTA enhancer hs1319 Neighboring gene VISTA enhancer hs329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124878267-124878768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124878769-124879268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4146 Neighboring gene Sharpr-MPRA regulatory region 13916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2895 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:124894701-124895651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124896834-124897798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124898839-124899608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124901370-124902306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124902307-124903243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2902 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2903 Neighboring gene Sharpr-MPRA regulatory region 2134 Neighboring gene H6 family homeobox 3 Neighboring gene H6 family homeobox 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. ACADSB regulates ferroptosis and affects the migration, invasion, and proliferation of colorectal cancer cells. Lu D, et al. Cell Biol Int, 2020 Nov. PMID 32776663
  2. Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature. Porta F, et al. J Pediatr Endocrinol Metab, 2019 Feb 25. PMID 30730842
  3. Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin. Van Calcar SC, et al. Mol Genet Metab, 2013 Sep-Oct. PMID 23712021, Free PMC Article
  4. Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. Alfardan J, et al. Mol Genet Metab, 2010 Aug. PMID 20547083, Free PMC Article
  5. Thermodynamic regulation of human short-chain acyl-CoA dehydrogenase by substrate and product binding. Saenger AK, et al. Biochemistry, 2005 Dec 13. PMID 16331964

See all (71) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Lipid Metabolism Pathway Genes and Lung Cancer: ACADSB rs12220683G>C Is Associated with Better Survival Outcome in Patients with Non-Small Cell Lung Cancer.
    Title: Lipid Metabolism Pathway Genes and Lung Cancer: ACADSB rs12220683G>C Is Associated with Better Survival Outcome in Patients with Non-Small Cell Lung Cancer.
  2. ACADSB regulates ferroptosis and affects the migration, invasion, and proliferation of colorectal cancer cells.
    Title: ACADSB regulates ferroptosis and affects the migration, invasion, and proliferation of colorectal cancer cells.
  3. ACADSB mutation is associated with short/branched-chain acyl-CoA dehydrogenase deficiency.
    Title: Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.
  4. the c.1165 A>G mutation before knowing whether the optimal screening cut-off would minimize true positives or false negatives for SBCADD associated with this mutation.
    Title: Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
  5. 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.
  6. 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.
  7. 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.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (12)

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

Associated conditions

Description Tests
Deficiency of 2-methylbutyryl-CoA dehydrogenase
MedGen: C1864912 OMIM: 610006 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of acyl-CoA dehydrogenase, short/branched chain (ACADSB) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2-methylbutanoyl-CoA dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables 2-methylpropanoyl-CoA dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
  
enables acyl-CoA dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables butyryl-CoA dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
  
enables flavin adenine dinucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables short-chain fatty acyl-CoA dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in fatty acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in isoleucine catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in isoleucine catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
short/branched chain specific acyl-CoA dehydrogenase, mitochondrial
Names
2-methyl branched chain acyl-CoA dehydrogenase
2-methylbutyryl-coenzyme A dehydrogenase
acyl-Coenzyme A dehydrogenase, short/branched chain
NP_001317103.1
NP_001600.1

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

  1. NG_008003.1 RefSeqGene

    Range
    5001..54378
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_451

mRNA and Protein(s)

  1. NM_001330174.3 → NP_001317103.1  short/branched chain specific acyl-CoA dehydrogenase, mitochondrial isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC012391, AW408417, BC032395, BQ312626, DC412570, H56072
    Consensus CDS
    CCDS81518.1
    UniProtKB/Swiss-Prot
    P45954
    Related
    ENSP00000357862.4, ENST00000368869.8
    Conserved Domains (1) summary
    cd01158
    Location:1 → 328
    SCAD_SBCAD; Short chain acyl-CoA dehydrogenases and eukaryotic short/branched chain acyl-CoA dehydrogenases

  2. NM_001609.4 → NP_001600.1  short/branched chain specific acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_001600.1

    Status: REVIEWED

    Source sequence(s)
    AC012391, BC013756, DA964130, U12778
    Consensus CDS
    CCDS7634.1
    UniProtKB/Swiss-Prot
    B4DQ51, P45954, Q5SQN6, Q96CX7
    UniProtKB/TrEMBL
    A0A0S2Z3P9
    Related
    ENSP00000357873.3, ENST00000358776.7
    Conserved Domains (2) summary
    cd01158
    Location:59 → 430
    SCAD_SBCAD; Short chain acyl-CoA dehydrogenases and eukaryotic short/branched chain acyl-CoA dehydrogenases
    COG1960
    Location:57 → 428
    CaiA; Acyl-CoA dehydrogenase related to the alkylation response protein AidB [Lipid transport and metabolism]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    123009006..123058290
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    123884001..123933301
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P45954.1 GenPept UniProtKB/Swiss-Prot:P45954

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