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

    Gene ID: 36, updated on 2-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (123009006..123058290)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (123884001..123933301)
    RS_2024_09 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 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. Lipid Metabolism Pathway Genes and Lung Cancer: ACADSB rs12220683G>C Is Associated with Better Survival Outcome in Patients with Non-Small Cell Lung Cancer. Yoo SS, et al. Oncology, 2024. PMID 37527640
    2. Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family. Rozen R, et al. Genomics, 1994 Nov 15. PMID 7698750
    3. Localization of short/branched chain acyl-CoA dehydrogenase (ACADSB) to human chromosome 10. Arden KC, et al. Genomics, 1995 Feb 10. PMID 7759115
    4. Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. Madsen PP, et al. Hum Genet, 2006 Feb. PMID 16317551
    5. Biochemical and electrochemical characterization of two variant human short-chain acyl-CoA dehydrogenases. Saenger AK, et al. Biochemistry, 2005 Dec 13. PMID 16331963

    See all (79) 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
    		Compare labs

    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 acyl-CoA dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    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 2-methyl fatty acyl-CoA dehydrogenase activity 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
    		  
    located_in mitochondrion HTP PubMed 
    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_2024_08

    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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