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 ... See more...

Aliases for ACADSB Gene

Aliases for ACADSB Gene

  • Acyl-CoA Dehydrogenase Short/Branched Chain 2 3 5
  • SBCAD 2 3 4
  • Short/Branched Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial 3 4
  • Acyl-Coenzyme A Dehydrogenase, Short/Branched Chain 2 3
  • 2-Methyl Branched Chain Acyl-CoA Dehydrogenase 3 4
  • 2-Methylbutyryl-Coenzyme A Dehydrogenase 3 4
  • 2-MEBCAD 3 4
  • ACAD7 2 3
  • 2-Methylbutyryl-CoA Dehydrogenase 4
  • EC 1.3.8.5 4
  • EC 1.3.99 50
  • ACADSB 5

External Ids for ACADSB Gene

Previous GeneCards Identifiers for ACADSB Gene

  • GC10P123785
  • GC10P124018
  • GC10P124775
  • GC10P124308
  • GC10P124758
  • GC10P118386

Summaries for ACADSB Gene

Entrez Gene Summary for ACADSB Gene

  • 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]

GeneCards Summary for ACADSB Gene

ACADSB (Acyl-CoA Dehydrogenase Short/Branched Chain) is a Protein Coding gene. Diseases associated with ACADSB include 2-Methylbutyryl-Coa Dehydrogenase Deficiency and Acyl-Coa Dehydrogenase Deficiency. Among its related pathways are Metabolism and Fatty Acyl-CoA Biosynthesis. Gene Ontology (GO) annotations related to this gene include flavin adenine dinucleotide binding and acyl-CoA dehydrogenase activity. An important paralog of this gene is ACADS.

UniProtKB/Swiss-Prot Summary for ACADSB Gene

  • Short and branched chain specific acyl-CoA dehydrogenase that catalyzes the removal of one hydrogen from C-2 and C-3 of the fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA (PubMed:7698750, PubMed:11013134, PubMed:21430231, PubMed:10832746). Among the different mitochondrial acyl-CoA dehydrogenases, acts specifically on short and branched chain acyl-CoA derivatives such as (S)-2-methylbutyryl-CoA as well as short straight chain acyl-CoAs such as butyryl-CoA (PubMed:7698750, PubMed:11013134, PubMed:21430231, PubMed:10832746). Plays an important role in the metabolism of L-isoleucine by catalyzing the dehydrogenation of 2-methylbutyryl-CoA, one of the steps of the L-isoleucine catabolic pathway (PubMed:11013134, PubMed:10832746). Can also act on valproyl-CoA, a metabolite of valproic acid, an antiepileptic drug (PubMed:8660691).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACADSB Gene

Genomics for ACADSB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACADSB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J123007 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 286.6 -0.4 -378 3.2 BCLAF1 SP1 MYC NCOR1 ZNF600 IKZF1 ATF2 CEBPA POLR2A ZNF10 ACADSB IKZF5 lnc-IKZF5-1 BTBD16 HSALNG0081257 PSTK
GH10J122979 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 23.5 -28.4 -28378 2 BCLAF1 SP1 ZNF207 MYC ZNF600 JUND ZNF580 ATF2 CEBPA BRCA1 HSALNG0081252 PSTK ACADSB IKZF5 BTBD16 HSALNG0081248
GH10J123019 Enhancer 1 Ensembl ENCODE 22.4 +11.2 11222 2 CEBPA YY1 FOXA1 FOXA2 RXRA SAP130 ETV4 RARA ZSCAN9 ZBTB33 ACADSB HMX3 piR-33270-006 piR-35564-017
GH10J123017 Enhancer 0.6 Ensembl ENCODE 35.8 +9.0 9048 1.4 NANOG ZBTB17 USF1 ACADSB HMX3 BTBD16 piR-35564-017 piR-33270-006
GH10J122847 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE dbSUPER 15.8 -160.5 -160506 2.1 CEBPB POLR2A CBFA2T3 SCRT2 CUZD1 ACADSB C10orf88B FAM24B IKZF5 HSALNG0081237 ENSG00000286088 FAM24B-CUZD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACADSB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACADSB

Top Transcription factor binding sites by QIAGEN in the ACADSB gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • GATA-1
  • HFH-1
  • NF-Y
  • NF-YA
  • NF-YB
  • SEF-1 (1)

Genomic Locations for ACADSB Gene

Latest Assembly
chr10:123,008,979-123,058,290
(GRCh38/hg38)
Size:
49,312 bases
Orientation:
Plus strand

Previous Assembly
chr10:124,768,522-124,817,806
(GRCh37/hg19 by Entrez Gene)
Size:
49,285 bases
Orientation:
Plus strand

chr10:124,768,495-124,817,827
(GRCh37/hg19 by Ensembl)
Size:
49,333 bases
Orientation:
Plus strand

Genomic View for ACADSB Gene

Genes around ACADSB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACADSB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACADSB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACADSB Gene

Proteins for ACADSB Gene

  • Protein details for ACADSB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P45954-ACDSB_HUMAN
    Recommended name:
    Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial
    Protein Accession:
    P45954
    Secondary Accessions:
    • B4DQ51
    • Q5SQN6
    • Q96CX7

    Protein attributes for ACADSB Gene

    Size:
    432 amino acids
    Molecular mass:
    47485 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for ACADSB Gene

    Alternative splice isoforms for ACADSB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACADSB Gene

Selected DME Specific Peptides for ACADSB Gene

P45954:
  • FDFQGLQHQVA
  • AQGCFDYTIPYIKER
  • RLLTYNAAR
  • SKMEKSVIQGLFQQGLMGIE
  • TSKCIEWMGGVGYTK
  • KEASMAK
  • IEELAKVD
  • GHGYKYAIGSLNEGRIGIAAQMLG
  • FRDAKIGTIYEG

Post-translational modifications for ACADSB Gene

  • Ubiquitination at Lys70 and Lys284
  • Modification sites at PhosphoSitePlus

Other Protein References for ACADSB Gene

Antibodies for research

  • Boster Bio Antibodies for ACADSB
  • Santa Cruz Biotechnology (SCBT) Antibodies for ACADSB

Domains & Families for ACADSB Gene

Gene Families for ACADSB Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ACADSB Gene

GenScript: Design optimal peptide antigens:
  • 2-methylbutyryl-coenzyme A dehydrogenase (ACDSB_HUMAN)
  • cDNA FLJ57418, highly similar to Short/branched chain specific acyl-CoAdehydrogenase, mitochondrial (EC 1.3.99.-) (B4DQ51_HUMAN)
  • cDNA, FLJ94986, Homo sapiens acyl-Coenzyme A dehydrogenase, short/branched chain(ACADSB), nuclear gene encoding mitochondrial protein, mRNA (Q5SQN6_HUMAN)
  • Acyl-Coenzyme A dehydrogenase, short/branched chain (Q5SQN7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P45954

UniProtKB/Swiss-Prot:

ACDSB_HUMAN :
  • Belongs to the acyl-CoA dehydrogenase family.
Family:
  • Belongs to the acyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with ACADSB: view

Function for ACADSB Gene

Molecular function for ACADSB Gene

UniProtKB/Swiss-Prot Function:
Short and branched chain specific acyl-CoA dehydrogenase that catalyzes the removal of one hydrogen from C-2 and C-3 of the fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA (PubMed:7698750, PubMed:11013134, PubMed:21430231, PubMed:10832746). Among the different mitochondrial acyl-CoA dehydrogenases, acts specifically on short and branched chain acyl-CoA derivatives such as (S)-2-methylbutyryl-CoA as well as short straight chain acyl-CoAs such as butyryl-CoA (PubMed:7698750, PubMed:11013134, PubMed:21430231, PubMed:10832746). Plays an important role in the metabolism of L-isoleucine by catalyzing the dehydrogenation of 2-methylbutyryl-CoA, one of the steps of the L-isoleucine catabolic pathway (PubMed:11013134, PubMed:10832746). Can also act on valproyl-CoA, a metabolite of valproic acid, an antiepileptic drug (PubMed:8660691).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-2-methylbut-2-enoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:43780, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57336, ChEBI:CHEBI:57337, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307; EC=1.3.8.5; Evidence={ECO:0000269|PubMed:10832746, ECO:0000269|PubMed:21430231};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(2S)-2-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-2-methylbut-2-enoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:48256, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57337, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:88166; Evidence={ECO:0000269|PubMed:11013134, ECO:0000269|PubMed:12855692, ECO:0000269|PubMed:7698750};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(2R)-2-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = ethylacryloyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:65296, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:156439, ChEBI:CHEBI:156440; Evidence={ECO:0000250|UniProtKB:P70584};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=butanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-butenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:24004, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57332, ChEBI:CHEBI:57371, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307; Evidence={ECO:0000269|PubMed:7698750};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-methylpropanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-2-methylpropenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:44180, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57338, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:62500; Evidence={ECO:0000269|PubMed:7698750};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + hexanoyl-CoA + oxidized [electron-transfer flavoprotein] = (2E)-hexenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:43464, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:62077, ChEBI:CHEBI:62620; Evidence={ECO:0000269|PubMed:12855692, ECO:0000269|PubMed:7698750};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-methylhexanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = 2-methylhexenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:48272, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:90156, ChEBI:CHEBI:90157; Evidence={ECO:0000269|PubMed:7698750};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + oxidized [electron-transfer flavoprotein] + valproyl-CoA = (2E)-2-propylpent-2-enoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:65344, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:156457, ChEBI:CHEBI:156458; Evidence={ECO:0000269|PubMed:8660691};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=12 uM for 2-methylbutanoyl-CoA (at pH 8.0 and 37 degrees Celsius) {ECO:0000269|PubMed:21430231}; KM=2.7 uM for (2S)-2-methylbutanoyl-CoA (at 32 degrees Celsius) {ECO:0000269|PubMed:12855692}; KM=36 uM for hexanoyl-CoA (at 32 degrees Celsius) {ECO:0000269|PubMed:12855692}; KM=130 uM for 2-methylpropanoyl-CoA (at 32 degrees Celsius) {ECO:0000269|PubMed:12855692}; Vmax=12 umol/min/mg enzyme with 2-methylbutanoyl-CoA as substrate (at pH 8.0 and 37 degrees Celsius) {ECO:0000269|PubMed:21430231}; Note=kcat is 9700 sec(-1) for the dehydrogenation of (2S)-2-methylbutanoyl-CoA (PubMed:12855692). kcat is 7600 sec(-1) for the dehydrogenation of hexanoyl-CoA (PubMed:12855692). kcat is 2900 sec(-1) for the dehydrogenation of hexanoyl-CoA (PubMed:12855692). {ECO:0000269|PubMed:12855692};
UniProtKB/Swiss-Prot EnzymeRegulation:
Competitively inhibited by valproyl-CoA.
GENATLAS Biochemistry:
acyl-CoA dehydrogenase,short branched chain,mitochondrial,fatty acid beta-oxidation

Enzyme Numbers (IUBMB) for ACADSB Gene

Phenotypes From GWAS Catalog for ACADSB Gene

Gene Ontology (GO) - Molecular Function for ACADSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003853 2-methylacyl-CoA dehydrogenase activity IDA 7698750
GO:0003995 acyl-CoA dehydrogenase activity IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
GO:0016937 short-branched-chain-acyl-CoA dehydrogenase activity IDA 7698750
genes like me logo Genes that share ontologies with ACADSB: view
genes like me logo Genes that share phenotypes with ACADSB: view

Human Phenotype Ontology for ACADSB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACADSB

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ACADSB Gene

Localization for ACADSB Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACADSB Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACADSB gene
Compartment Confidence
mitochondrion 5
peroxisome 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ACADSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS,IDA 11013134
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ACADSB: view

Pathways & Interactions for ACADSB Gene

genes like me logo Genes that share pathways with ACADSB: view

Pathways by source for ACADSB Gene

UniProtKB/Swiss-Prot P45954-ACDSB_HUMAN

  • Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation.
  • Pathway: Amino-acid degradation; L-isoleucine degradation.

Gene Ontology (GO) - Biological Process for ACADSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006550 isoleucine catabolic process IMP 11013134
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA,IDA 7698750
GO:0009083 branched-chain amino acid catabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ACADSB: view

No data available for SIGNOR curated interactions for ACADSB Gene

Drugs & Compounds for ACADSB Gene

(6) Drugs for ACADSB Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Valproic acid Approved, Investigational Pharma Target, inhibitor HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 387
FAD Approved Pharma 0
Hexanoyl-CoA Experimental Pharma 0
Methacrylyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0

(36) Additional Compounds for ACADSB Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-methylbutyryl-coa
  • (S)-2-Methylbutanoyl-coenzyme A
  • (S)-2-Methylbutyryl-CoA
  • (S)-2-Methylbutyryl-coenzyme A
  • 2-Methylbutyryl CoA
  • 2-Methylbutyryl-CoA
87069-91-8
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • Dodecenoyl-CoA
  • Dodecenoyl+2-dodecenoyl, (e)-isomer
  • Dodecenoyl-coenzyme A
  • Dodecenoyl+2-dodecenoyl
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
genes like me logo Genes that share compounds with ACADSB: view

Transcripts for ACADSB Gene

mRNA/cDNA for ACADSB Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACADSB

Alternative Splicing Database (ASD) splice patterns (SP) for ACADSB Gene

No ASD Table

Relevant External Links for ACADSB Gene

GeneLoc Exon Structure for
ACADSB

Expression for ACADSB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACADSB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACADSB Gene

This gene is overexpressed in Liver (x10.1).

Protein differential expression in normal tissues from HIPED for ACADSB Gene

This gene is overexpressed in Fetal Liver (18.2), Liver (15.5), and Kidney (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACADSB Gene



Protein tissue co-expression partners for ACADSB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACADSB

SOURCE GeneReport for Unigene cluster for ACADSB Gene:

Hs.81934

mRNA Expression by UniProt/SwissProt for ACADSB Gene:

P45954-ACDSB_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for ACADSB Gene

  • Liver(4.7)
  • Muscle(4.5)
  • Kidney(2.9)
  • Heart(2.4)
  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACADSB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • neck
  • skull
Thorax:
  • bronchus
  • diaphragm
  • heart
  • lung
  • trachea
Abdomen:
  • adrenal gland
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with ACADSB: view

Primer products for research

Orthologs for ACADSB Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ACADSB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACADSB 29 30
  • 95.9 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ACADSB 29 30
  • 84.49 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ACADSB 29 30
  • 84.26 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Acadsb 29
  • 83.86 (n)
Mouse
(Mus musculus)
Mammalia Acadsb 29 16 30
  • 82.73 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 81 (a)
OneToMany
-- 30
  • 69 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia ACADSB 30
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ACADSB 29 30
  • 73.02 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ACADSB 30
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia acadsb 29
  • 69.67 (n)
Str.1713 29
Zebrafish
(Danio rerio)
Actinopterygii acadsb 30
  • 67 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG3902 29 30 31
  • 60.26 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009783 29
  • 57.48 (n)
Worm
(Caenorhabditis elegans)
Secernentea acdh-3 29 30
  • 62.64 (n)
OneToMany
K06A5.6 31
  • 62 (a)
acdh-4 30
  • 59 (a)
OneToMany
T10E9.9 31
  • 54 (a)
acdh-1 30
  • 52 (a)
OneToMany
C17C3.12b 31
  • 49 (a)
C17C3.12c 31
  • 49 (a)
C17C3.12a 31
  • 47 (a)
acdh-2 30
  • 45 (a)
OneToMany
C02D5.1 31
  • 30 (a)
C37A2.3 31
  • 29 (a)
Bread mold
(Neurospora crassa)
Ascomycetes NCU06543 29
  • 52.98 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5588 30
  • 27 (a)
ManyToMany
Species where no ortholog for ACADSB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ACADSB Gene

ENSEMBL:
Gene Tree for ACADSB (if available)
TreeFam:
Gene Tree for ACADSB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACADSB: view image
Alliance of Genome Resources:
Additional Orthologs for ACADSB

Paralogs for ACADSB Gene

(9) SIMAP similar genes for ACADSB Gene using alignment to 3 proteins:

  • ACDSB_HUMAN
  • B4DQ51_HUMAN
  • H0Y6T4_HUMAN
genes like me logo Genes that share paralogs with ACADSB: view

Variants for ACADSB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACADSB Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
1003861 Uncertain Significance: Deficiency of 2-methylbutyryl-CoA dehydrogenase 123,051,073(+) G/A
NM_001609.4(ACADSB):c.1015G>A (p.Val339Met)
MISSENSE
1024373 Uncertain Significance: Deficiency of 2-methylbutyryl-CoA dehydrogenase 123,051,187(+) G/GT
NM_001609.4(ACADSB):c.1128+2dup
SPLICE_DONOR
1029359 Uncertain Significance: Deficiency of 2-methylbutyryl-CoA dehydrogenase 123,041,338(+) G/T
NM_001609.4(ACADSB):c.640G>T (p.Ala214Ser)
MISSENSE
1032757 Uncertain Significance: Deficiency of 2-methylbutyryl-CoA dehydrogenase 123,051,110(+) A/G
NM_001609.4(ACADSB):c.1052A>G (p.Tyr351Cys)
MISSENSE
1032758 Likely Pathogenic: Deficiency of 2-methylbutyryl-CoA dehydrogenase 123,053,161(+) G/A
NM_001609.4(ACADSB):c.1228+1G>A
SPLICE_DONOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ACADSB Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ACADSB Gene

Variant ID Type Subtype PubMed ID
esv2674518 CNV deletion 23128226
nsv7586 CNV insertion 18451855
nsv832010 CNV gain 17160897

Variation tolerance for ACADSB Gene

Residual Variation Intolerance Score: 69% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.14; 75.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACADSB Gene

Human Gene Mutation Database (HGMD)
ACADSB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACADSB
Leiden Open Variation Database (LOVD)
ACADSB

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACADSB Gene

Disorders for ACADSB Gene

MalaCards: The human disease database

(6) MalaCards diseases for ACADSB Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ACDSB_HUMAN
  • Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]: Autosomal recessive disorder and consists of a defect in catabolism of L-isoleucine which is characterized by an increase of 2-methylbutyrylglycine and 2-methylbutyrylcarnitine in blood and urine. Affected individuals have seizures and psychomotor delay as the main clinical features. {ECO:0000269 PubMed:10832746, ECO:0000269 PubMed:11013134, ECO:0000269 PubMed:16317551}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ACADSB

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ACADSB: view

No data available for Genatlas for ACADSB Gene

Publications for ACADSB Gene

  1. Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. (PMID: 11013134) Andresen BS … Skovby F (American journal of human genetics 2000) 3 4 22 72
  2. Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. (PMID: 16317551) Madsen PP … Andresen BS (Human genetics 2006) 3 4 25
  3. 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation. (PMID: 15615815) Korman SH … Pitt JJ (Clinical chemistry 2005) 22 25 72
  4. A novel approach to the characterization of substrate specificity in short/branched chain Acyl-CoA dehydrogenase. (PMID: 12855692) He M … Vockley J (The Journal of biological chemistry 2003) 3 4 22
  5. Localization of short/branched chain acyl-CoA dehydrogenase (ACADSB) to human chromosome 10. (PMID: 7759115) Arden KC … Rozen R (Genomics 1995) 2 3 22

Products for ACADSB Gene

Sources for ACADSB Gene