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Aliases for ACADSB Gene

Aliases for ACADSB Gene

  • Acyl-CoA Dehydrogenase, Short/Branched Chain 2 3
  • SBCAD 3 4 6
  • 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
  • Short/Branched Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial 3
  • 2-Methylbutyryl-CoA Dehydrogenase 4
  • EC 1.3.8.5 4
  • EC 1.3.99 64
  • ACAD7 3

External Ids for ACADSB Gene

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 isovaleric acidemia. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include flavin adenine dinucleotide binding. 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

Genomic Location for ACADSB Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACADSB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACADSB Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys70 and Lys284

Other Protein References for ACADSB Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ACADSB Gene

UniProtKB/Swiss-Prot:

ACDSB_HUMAN
Family:
  • Belongs to the acyl-CoA dehydrogenase family.:
    • P45954
genes like me logo Genes that share domains with ACADSB: view

No data available for Gene Families for ACADSB Gene

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:0003995 acyl-CoA dehydrogenase activity EXP --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors --
GO:0050660 flavin adenine dinucleotide binding IEA --
genes like me logo Genes that share ontologies with ACADSB: view

miRNA for ACADSB Gene

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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
mitochondrion 5
cytosol 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for ACADSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ACADSB: view

Pathways 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 IEA --
GO:0008152 metabolic process --
GO:0009083 branched-chain amino acid catabolic process TAS --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with ACADSB: view

Compounds for ACADSB Gene

(37) HMDB Compounds for ACADSB Gene

Compound Synonyms Cas Number PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate Coenzyme A
10018-95-8
(2E)-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-CoA
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate Coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
38795-33-4

(2) Drugbank Compounds for ACADSB Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Isoleucine
  • (2S,3S)-2-Amino-3-methylpentanoic acid
73-32-5 target
Valproic Acid
  • 2-Propylpentanoic Acid
99-66-1 target inhibitor

(4) Novoseek inferred chemical compound relationships for ACADSB Gene

Compound -log(P) Hits PubMed IDs
2-methylbutyryl-coa 98.8 14
2-methyl-3-hydroxybutyryl-coa 93 2
acyl-coa 85.5 12
isoleucine 72.8 5
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 (10.1).

Integrated Proteomics: protein expression 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 expressions with ACADSB: view

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 36
  • 95.9 (n)
  • 95.04 (a)
ACADSB 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ACADSB 36
  • 84.26 (n)
  • 82.41 (a)
ACADSB 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACADSB 36
  • 84.49 (n)
  • 81.71 (a)
ACADSB 37
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acadsb 36
  • 82.73 (n)
  • 84.1 (a)
Acadsb 16
Acadsb 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACADSB 37
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 81 (a)
OneToMany
-- 37
  • 69 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Acadsb 36
  • 83.86 (n)
  • 85.06 (a)
chicken
(Gallus gallus)
Aves ACADSB 36
  • 73.02 (n)
  • 72.86 (a)
ACADSB 37
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACADSB 37
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acadsb 36
  • 69.67 (n)
  • 75.29 (a)
Str.1713 36
zebrafish
(Danio rerio)
Actinopterygii acadsb 37
  • 67 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009783 36
  • 57.48 (n)
  • 60.37 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3902 36
  • 60.26 (n)
  • 62.11 (a)
CG3902 37
  • 58 (a)
OneToOne
CG3902 38
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea acdh-1 37
  • 52 (a)
OneToMany
acdh-2 37
  • 45 (a)
OneToMany
acdh-3 36
  • 62.64 (n)
  • 61.94 (a)
acdh-3 37
  • 58 (a)
OneToMany
acdh-4 37
  • 59 (a)
OneToMany
K06A5.6 38
  • 62 (a)
C17C3.12c 38
  • 49 (a)
C02D5.1 38
  • 30 (a)
C17C3.12a 38
  • 47 (a)
C37A2.3 38
  • 29 (a)
T10E9.9 38
  • 54 (a)
C17C3.12b 38
  • 49 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06543 36
  • 52.98 (n)
  • 51.84 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5588 37
  • 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

Selected 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 MAF
rs6838 -- 123,058,232(+) ATTCG(A/T)TGTTA utr-variant-3-prime
rs7732 -- 123,058,191(+) TGGTA(C/T)GTATC utr-variant-3-prime
rs1016560 -- 123,030,636(+) CACAA(C/T)ATCTC intron-variant
rs1044536 -- 123,057,399(+) TTTTT(C/T)CAAAG utr-variant-3-prime
rs1063558 -- 123,054,909(+) TAATA(A/G)TTCAG utr-variant-3-prime

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

Relevant External Links for ACADSB Gene

HapMap Linkage Disequilibrium report
ACADSB
Human Gene Mutation Database (HGMD)
ACADSB
Locus Specific Mutation Databases (LSDB)
ACADSB

Disorders for ACADSB Gene

(1) OMIM Diseases for ACADSB Gene (600301)

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.

(1) University of Copenhagen DISEASES for ACADSB Gene

(1) Novoseek inferred disease relationships for ACADSB Gene

Disease -log(P) Hits PubMed IDs
isovaleric acidemia 87 2

Relevant External Links for ACADSB

Genetic Association Database (GAD)
ACADSB
Human Genome Epidemiology (HuGE) Navigator
ACADSB
genes like me logo Genes that share disorders with ACADSB: view

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 B.S. … Skovby F. (Am. J. Hum. Genet. 2000) 3 4 23
  2. 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
  3. 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
  4. 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 4 25
  5. 2-methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. (PMID: 10832746) Gibson K.M. … Vockley J. (Pediatr. Res. 2000) 3 4

Products for ACADSB Gene

Sources for ACADSB Gene

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