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Aliases & Descriptions for ACADSB
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| 2-MEBCAD 2, 3 | | ACAD7 1, 2 | | EC 1.3.99.- 3 | | OTTHUMP00000020685 2 | | OTTHUMP00000046795 2 | | SBCAD 1, 2, 3, 5 |
| | | Descriptions |
|---|
| 2-methyl branched chain acyl-CoA dehydrogenase 2, 3 | | 2-methylbutyryl-CoA dehydrogenase 2, 3 | | 2-methylbutyryl-coenzyme A dehydrogenase 3 | | acyl-Coenzyme A dehydrogenase, short/branched chain 2 |
|
| | Search outside databases for aliases for ACADSB genePrevious GC identifers: GC10P123785 GC10P124018 GC10P124775 GC10P124308 |
Summaries for ACADSB(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for ACADSB: 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] UniProtKB/Swiss-Prot: ACDSB_HUMAN, P45954Function: 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 |
Genomic Location for ACADSB
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the ACADSB gene 
Entrez Gene cytogenetic band: 10q26.13 Ensembl cytogenetic band: 10q26.13 HGNC cytogenetic band: 10q25-q26ACADSB Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10P124758:
(about GC identifiers)
Start:
|
124,758,419 bp from pter |
End:
|
124,807,796 bp from pter |
Size:
|
49,378 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000010.9 NT_030059.12
| Proteins for ACADSB
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: ACDSB_HUMAN, P45954 (See
protein sequence)Recommended Name: Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial precursor Size: 432 amino acids; 47485 Da
Cofactor: FAD
Subunit: Homotetramer
Subcellular location: Mitochondrion matrix
PDB structures from and Proteopedia :2JIF (3D)
 
Secondary accessions: Q96CX7Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_001600.1
ENSEMBL proteins: ENSP00000357873 ENSP00000357862
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: ACADSB 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for ACADSB: Assays for ACADSB: | Protein
Domains/ Families for ACADSB(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P45954
ProtoNet protein and cluster: P45954 1 Blocks protein family: IPB006089 Acyl-CoA dehydrogenase
UniProtKB/Swiss-Prot: ACDSB_HUMAN, P45954Similarity: Belongs to the acyl-CoA dehydrogenase family | Gene Function for ACADSB
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001609
Applied Biosystems Silencer® siRNAs for ACADSB
Sigma-Aldrich siRNA for ACADSB  Sigma-Aldrich shRNA for ACADSB  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001609                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001609                                  untagged cDNA clone in CMV expression vector: NM_001609 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001609
UniProtKB/Swiss-Prot: ACDSB_HUMAN, P45954Function: 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 agentCatalytic activity: Acyl-CoA + ETF = 2,3-dehydroacyl-CoA + reduced ETFEnzyme Number (IUBMB): EC 1.3.99.- Genatlas biochemistry entry for ACADSB:acyl-CoA dehydrogenase,short branched chain,mitochondrial,fatty acid beta-oxidation3 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for ACADSB
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 4 Sigma-Aldrich "Your Favorite Gene" Pathways for ACADSB (Your Favorite Gene powered by Ingenuity) 
UniProtKB/Swiss-Prot: ACDSB_HUMAN, P45954Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation 5/9 Interacting proteins for ACADSB (ENSP000003578733) via UniProtKB, MINT, and/or STRING (see all 9
)About this table
3 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for ACADSB(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for ACADSB 4 Novoseek chemical compound relationships for ACADSB gene
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| 2-methylbutyryl-coa |
98.84 |
17 |
15574432 (5), 17393751 (2), 12837870 (2), 17883863 (2) (see all 7) |
| 2-methyl-3-hydroxybutyryl-coa |
93.44 |
2 |
16602099 (1), 16950638 (1) |
| acyl-coa |
85.86 |
21 |
15574432 (2), 7759115 (2), 16602099 (1), 9487154 (1) (see all 10) |
| isoleucine |
73.28 |
8 |
17945527 (2), 11013134 (1), 17393751 (1), 12837870 (1) |
About this table
|
Transcripts for ACADSB(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001609
Sigma-Aldrich siRNA for ACADSB  Sigma-Aldrich shRNA for ACADSB  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_001609 REFSEQ mRNAs for ACADSB gene: NM_001609.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001609               OriGene GFP tagged cDNA clone in CMV expression vector: NM_001609                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001609                                  untagged cDNA clone in CMV expression vector: NM_001609  Additional cDNA sequence: AK298638.1 AK314241.1 AL831821.2 BC013756.1 BC020931.1 BC032395.1 BC045723.1 CR612602.1 U12778.1 10 DOTS entries: DT.416941 DT.100024007 DT.100779963 DT.121295563 DT.121295582 DT.95263418 DT.100689618 DT.121295569 DT.121295691 DT.92425400 24/209 AceView cDNA sequences (see all 209
):AA917930 AA236877 AI915897 AA505970 BM836131 AW408417 AI911527 AV682059 BU190209 AV645726 AI672498 BC013756 N53122 AA424737 AI492506 AV656592 AA953543 CR612602 AI680749 AI111193 NM_001609 AV658287 BU839630 BE875638
highest scoring ESTs for ACADSB:AA203252 U12778 AA122129 AA225979 AA225980 AA226440 AA226578 AA235920 AA236877 AA255953 Unigene Cluster for ACADSB: Acyl-Coenzyme A dehydrogenase, short/branched chain Hs.81934 [show with all ESTs]Unigene Representative Sequence: NM_001609
GeneLoc Exon Structure
2 Ensembl transcripts including schematic representations: ENST00000358776
ENST00000368869
|
Expression for ACADSB
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| ACADSB expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for ACADSB
1 / 2 / 3 7 probe-sets matching ACADSB gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TCAAATGTGA
SOURCE GeneReport for Unigene cluster: Hs.81934
Expression variation in blood from EXPOLDB for ACADSB UniProtKB/Swiss-Prot: ACDSB_HUMAN, P45954Tissue specificity: Ubiquitous |
Orthologs for ACADSB
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for ACADSB gene from 5/12 species (see all 12
)
About this table Species with no ortholog for ACADSB
ENSEMBL Gene Tree for ACADSB | Paralogs for ACADSB(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for ACADSB gene
- ACAD92 ACADVL2
|
SNPs/Variants for ACADSB(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for ACADSB (up to first 250kb)
|
Disorders & Mutations for ACADSB
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 600301 disorders: 610006 UniProtKB/Swiss-Prot: ACDSB_HUMAN, P45954
Defects in ACADSB are the cause of short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]; also called 2-methylbutyryl-CoA dehydrogenase deficiency or 2-methylbutyryl glycinuria. SBCADD is an 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 features1 Novoseek disease relationship for ACADSB gene
About this table
Human Gene Mutation Database: ACADSB Human Genome Epidemiology Navigator: ACADSB (1 document)
|
Medical News for ACADSB(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for ACADSB (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/26 PubMed articles for ACADSB gene (see all 26
):- Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family. (PubMed id 7698750)2, 3, 4 Rozen R.... Fournier B. (1994)
- Localization of short/branched chain acyl-CoA dehydrogenase (ACADSB) to human chromosome 10. (PubMed id 7759115)1, 2, 3 Arden K.C....Rozen R. (1995)
- 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. (PubMed id 11013134)1, 3, 4 Andresen B.S.... Skovby F. (2000)
- Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. (PubMed id 16317551)3, 4 Madsen P.P.... Andresen B.S. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- 2-methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. (PubMed id 10832746)3, 4 Gibson K.M.... Vockley J. (2000)
- A novel approach to the characterization of substrate specificity in short/branched chain Acyl-CoA dehydrogenase. (PubMed id 12855692)1, 3 He M....Vockley J. (2003)
- Association of genetic polymorphisms of ACADSB and COMT with human hypertension. (PubMed id 17143180)3 Kamide K....Miyata T. (2007)
- The full-ORF clone resource of the German cDNA Consortium. (PubMed id 17974005)4 Bechtel S....Schupp I. (2007)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)3 Kimura K.... Sugano S. (2006)
|
Search for ACADSB
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ACADSB
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing ACADSB
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ACADSB(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=ACADSB |
|
| | | About This Section
| --
| Services for ACADSB(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for ACADSB:

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