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

Summary

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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

Go to the top of the page Help

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	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

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

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

Go to the top of the page Help

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

EC 1.3.8.5

NP_001600.1

EC 1.3.8.5

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_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
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]