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Aliases for ACADSB Gene

Aliases for ACADSB Gene

  • Acyl-CoA Dehydrogenase, Short/Branched Chain 2 3 5
  • 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
  • SBCAD 3 4
  • Acyl-CoA Dehydrogenase Short/Branched Chain 3
  • 2-Methylbutyryl-CoA Dehydrogenase 4
  • EC 1.3.8.5 4
  • EC 1.3.99 63
  • ACAD7 3

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-Methylbutyrylglycinuria and 2-Methylbutyryl-Coa Dehydrogenase Deficiency. Among its related pathways are Metabolism and Fatty acid metabolism. GO annotations related to this gene include flavin adenine dinucleotide binding and acyl-CoA dehydrogenase activity. An important paralog of this gene is ACAD8.

UniProtKB/Swiss-Prot for ACADSB Gene

  • Has greatest activity toward short branched chain acyl-CoA derivative such as (s)-2-methylbutyryl-CoA, isobutyryl-CoA, and 2-methylhexanoyl-CoA as well as toward short straight chain acyl-CoAs such as butyryl-CoA and hexanoyl-CoA. Can use valproyl-CoA as substrate and may play a role in controlling the metabolic flux of valproic acid in the development of toxicity of this agent.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACADSB Gene

Genomics for ACADSB Gene

Regulatory Elements for ACADSB Gene

Enhancers for ACADSB Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ACADSB on UCSC Golden Path with GeneCards custom track

Genomic Location for ACADSB Gene

Chromosome:
10
Start:
123,008,913 bp from pter
End:
123,058,311 bp from pter
Size:
49,399 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

Proteomics data for ACADSB Gene at MOPED

Post-translational modifications for ACADSB Gene

  • Ubiquitination at Lys 70
  • Modification sites at PhosphoSitePlus

Other Protein References for ACADSB Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ACADSB Gene

Gene Families for ACADSB Gene

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

GENATLAS Biochemistry:
acyl-CoA dehydrogenase,short branched chain,mitochondrial,fatty acid beta-oxidation
UniProtKB/Swiss-Prot CatalyticActivity:
Acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor.
UniProtKB/Swiss-Prot CatalyticActivity:
2-methylbutanoyl-CoA + electron-transfer flavoprotein = (E)-2-methylbut-2-enoyl-CoA + reduced electron-transfer flavoprotein + H(+).
UniProtKB/Swiss-Prot Function:
Has greatest activity toward short branched chain acyl-CoA derivative such as (s)-2-methylbutyryl-CoA, isobutyryl-CoA, and 2-methylhexanoyl-CoA as well as toward short straight chain acyl-CoAs such as butyryl-CoA and hexanoyl-CoA. Can use valproyl-CoA as substrate and may play a role in controlling the metabolic flux of valproic acid in the development of toxicity of this agent.

Enzyme Numbers (IUBMB) for ACADSB Gene

Gene Ontology (GO) - Molecular Function for ACADSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009055 electron carrier activity IBA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
GO:0050660 flavin adenine dinucleotide binding IEA,IBA --
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

Animal Model Products

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
Jensen Localization Image for ACADSB Gene COMPARTMENTS Subcellular localization image for ACADSB gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for ACADSB Gene

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.

Gene Ontology (GO) - Biological Process for ACADSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006631 fatty acid metabolic process TAS 7698750
GO:0008152 metabolic process IEA --
GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase IBA --
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 inhibitor, Target HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 312
L-Isoleucine Approved Nutra Target 0
FAD Approved Pharma 0
Methacrylyl-CoA Experimental Pharma 0
Propionyl-CoA Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-methylbutyryl-coa
  • (S)-2-methylbutyryl-CoA
  • (S)-2-methylbutyryl-Coenzyme A
  • 2-Methylbutanoyl-CoA
  • 2-Methylbutanoyl-Coenzyme A
  • 2-Methylbutyryl-CoA
6712-02-3
(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
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
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

Unigene Clusters for ACADSB Gene

Acyl-CoA dehydrogenase, short/branched chain:
Representative Sequences:

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

No ASD Table

Relevant External Links for ACADSB Gene

GeneLoc Exon Structure for
ACADSB
ECgene alternative splicing isoforms for
ACADSB

Expression for ACADSB Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for ACADSB Gene



SOURCE GeneReport for Unigene cluster for ACADSB Gene Hs.81934

mRNA Expression by UniProt/SwissProt for ACADSB Gene

P45954-ACDSB_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with ACADSB: view

Protein tissue co-expression partners for ACADSB Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia ACADSB 35
  • 84.26 (n)
  • 82.41 (a)
ACADSB 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACADSB 35
  • 84.49 (n)
  • 81.71 (a)
ACADSB 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acadsb 35
  • 82.73 (n)
  • 84.1 (a)
Acadsb 16
Acadsb 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACADSB 35
  • 95.9 (n)
  • 95.04 (a)
ACADSB 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acadsb 35
  • 83.86 (n)
  • 85.06 (a)
oppossum
(Monodelphis domestica)
Mammalia ACADSB 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 81 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
chicken
(Gallus gallus)
Aves ACADSB 35
  • 73.02 (n)
  • 72.86 (a)
ACADSB 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACADSB 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acadsb 35
  • 69.67 (n)
  • 75.29 (a)
Str.1713 35
zebrafish
(Danio rerio)
Actinopterygii acadsb 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3902 37
  • 62 (a)
CG3902 35
  • 60.26 (n)
  • 62.11 (a)
CG3902 36
  • 58 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009783 35
  • 57.48 (n)
  • 60.37 (a)
worm
(Caenorhabditis elegans)
Secernentea C02D5.1 37
  • 30 (a)
C17C3.12a 37
  • 47 (a)
C17C3.12b 37
  • 49 (a)
C17C3.12c 37
  • 49 (a)
C37A2.3 37
  • 29 (a)
K06A5.6 37
  • 62 (a)
T10E9.9 37
  • 54 (a)
acdh-3 35
  • 62.64 (n)
  • 61.94 (a)
acdh-1 36
  • 52 (a)
OneToMany
acdh-2 36
  • 45 (a)
OneToMany
acdh-3 36
  • 58 (a)
OneToMany
acdh-4 36
  • 59 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06543 35
  • 52.98 (n)
  • 51.84 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5588 36
  • 27 (a)
ManyToMany
Species with no ortholog for ACADSB:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for ACADSB Gene

Paralogs for ACADSB Gene

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

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

Variants for ACADSB Gene

Sequence variations from dbSNP and Humsavar for ACADSB Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_013010 Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD)
rs1799823 - 123,041,323(+) GGATC(A/G)GCAGT reference, missense
VAR_048177 -
rs1131430 - 123,047,254(+) CATAT(A/G)TTAAA reference, missense
rs12357783 - 123,051,185(+) ATCAG(A/G)GGTaa reference, missense

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

Variant ID Type Subtype PubMed ID
nsv832010 CNV Gain 17160897
nsv7586 CNV Insertion 18451855
esv2674518 CNV Deletion 23128226

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)

Relevant External Links for ACADSB Gene

Human Gene Mutation Database (HGMD)
ACADSB

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

Disorders for ACADSB Gene

MalaCards: The human disease database

(4) MalaCards diseases for ACADSB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
2-methylbutyrylglycinuria
  • 2-methylbutyryl-coa dehydrogenase deficiency
2-methylbutyryl-coa dehydrogenase deficiency
  • 2-methylbutyric aciduria
isovaleric acidemia
  • isovaleric acid coa dehydrogenase deficiency
propionicacidemia
  • propionic acidemia
- 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:16317551}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ACADSB

Genetic Association Database (GAD)
ACADSB
Human Genome Epidemiology (HuGE) Navigator
ACADSB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACADSB
genes like me logo Genes that share disorders with ACADSB: view

No data available for Genatlas for ACADSB Gene

Publications for ACADSB Gene

  1. Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family. (PMID: 7698750) Rozen R. … Fournier B. (Genomics 1994) 2 3 4 67
  2. Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. (PMID: 16317551) Madsen P.P. … Andresen B.S. (Hum. Genet. 2006) 3 25 26
  3. Inborn errors of isoleucine degradation: a review. (PMID: 16950638) Korman S.H. (Mol. Genet. Metab. 2006) 23 25 26
  4. 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 S.H. … Pitt J.J. (Clin. Chem. 2005) 23 25 26
  5. Localization of short/branched chain acyl-CoA dehydrogenase (ACADSB) to human chromosome 10. (PMID: 7759115) Arden K.C. … Rozen R. (Genomics 1995) 2 3 23

Products for ACADSB Gene

Sources for ACADSB Gene

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