Details for: ACADSB

Gene ID: 36

Symbol: ACADSB

Ensembl ID: ENSG00000196177

Description: acyl-CoA dehydrogenase short/branched chain

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 134.9447
    Cell Significance Index: -20.9900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 82.0838
    Cell Significance Index: -20.8200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 47.4576
    Cell Significance Index: -19.2800
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 33.1286
    Cell Significance Index: -22.2300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 20.2253
    Cell Significance Index: -19.3100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 17.4783
    Cell Significance Index: -21.5500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.7832
    Cell Significance Index: -20.8500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.9772
    Cell Significance Index: -21.4300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.5144
    Cell Significance Index: -21.7600
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.2310
    Cell Significance Index: -9.2600
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 2.8241
    Cell Significance Index: 17.3800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.3575
    Cell Significance Index: 467.8500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.9921
    Cell Significance Index: 148.4700
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 1.6233
    Cell Significance Index: 26.7500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.4095
    Cell Significance Index: 282.7400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.3669
    Cell Significance Index: 18.6500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.3021
    Cell Significance Index: 78.1700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.2423
    Cell Significance Index: 11.4400
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.1587
    Cell Significance Index: 19.5200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9964
    Cell Significance Index: 162.0600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.9485
    Cell Significance Index: 20.5500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.7182
    Cell Significance Index: 496.7400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.7061
    Cell Significance Index: 253.2800
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.6438
    Cell Significance Index: 7.9900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.6421
    Cell Significance Index: 44.4100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.6147
    Cell Significance Index: 31.9300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5872
    Cell Significance Index: 105.8600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.5788
    Cell Significance Index: 25.6000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.5620
    Cell Significance Index: 21.2800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5104
    Cell Significance Index: 50.4900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.4024
    Cell Significance Index: 5.9400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.3944
    Cell Significance Index: 26.5200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.3506
    Cell Significance Index: 10.0100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.3418
    Cell Significance Index: 26.2300
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.3310
    Cell Significance Index: 7.0800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3075
    Cell Significance Index: 8.8600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2943
    Cell Significance Index: 36.1900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2365
    Cell Significance Index: 6.6100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2029
    Cell Significance Index: 9.4600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1461
    Cell Significance Index: 8.9800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1438
    Cell Significance Index: 78.5500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1132
    Cell Significance Index: 1.9400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1019
    Cell Significance Index: 13.9900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0841
    Cell Significance Index: 53.4200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0681
    Cell Significance Index: 1.8300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0606
    Cell Significance Index: 114.1300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0526
    Cell Significance Index: 23.2700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0398
    Cell Significance Index: 1.2800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0397
    Cell Significance Index: 2.2300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0359
    Cell Significance Index: 16.3000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0343
    Cell Significance Index: 0.7300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0329
    Cell Significance Index: 24.1500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0242
    Cell Significance Index: 0.8500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0219
    Cell Significance Index: 40.4100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0207
    Cell Significance Index: 2.6500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0201
    Cell Significance Index: 30.8800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0061
    Cell Significance Index: 1.1700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0057
    Cell Significance Index: 0.9800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0043
    Cell Significance Index: 5.7900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0109
    Cell Significance Index: -8.2600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0256
    Cell Significance Index: -18.9600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0272
    Cell Significance Index: -3.5100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0315
    Cell Significance Index: -1.4300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0338
    Cell Significance Index: -19.0800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0390
    Cell Significance Index: -24.3800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0423
    Cell Significance Index: -1.1300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0646
    Cell Significance Index: -18.5800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0656
    Cell Significance Index: -6.7000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0667
    Cell Significance Index: -3.5000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0713
    Cell Significance Index: -1.4800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0742
    Cell Significance Index: -10.7800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0769
    Cell Significance Index: -6.0900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0856
    Cell Significance Index: -9.9800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0915
    Cell Significance Index: -2.2000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0945
    Cell Significance Index: -11.1500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1041
    Cell Significance Index: -6.5600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1160
    Cell Significance Index: -24.4300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1220
    Cell Significance Index: -2.5900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1255
    Cell Significance Index: -8.1000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1387
    Cell Significance Index: -15.8900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1606
    Cell Significance Index: -4.0200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1654
    Cell Significance Index: -17.2300
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.1766
    Cell Significance Index: -2.5300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1793
    Cell Significance Index: -9.3400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1844
    Cell Significance Index: -8.6700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2032
    Cell Significance Index: -4.4500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2300
    Cell Significance Index: -6.2600
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.2329
    Cell Significance Index: -2.4100
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2384
    Cell Significance Index: -3.5200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2424
    Cell Significance Index: -4.7300
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.2438
    Cell Significance Index: -4.1000
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: -0.2508
    Cell Significance Index: -2.5300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2525
    Cell Significance Index: -17.8600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2999
    Cell Significance Index: -7.7100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3134
    Cell Significance Index: -9.9800
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.3156
    Cell Significance Index: -4.2100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3176
    Cell Significance Index: -19.4700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3216
    Cell Significance Index: -10.5300
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.3267
    Cell Significance Index: -6.4600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3382
    Cell Significance Index: -6.7900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** ACADSB is a mitochondrial enzyme that belongs to the acyl-CoA dehydrogenase family. It is a short-chain dehydrogenase that specifically catalyzes the oxidation of 2-methylbutyryl-CoA and 2-methylpropanoyl-CoA, two key intermediates in the catabolism of branched-chain amino acids. The enzyme requires flavin adenine dinucleotide (FAD) as a cofactor and is sensitive to the redox state of the cell. ACADSB is highly expressed in tissues involved in energy metabolism, such as the liver, brain, and skeletal muscle. **Pathways and Functions** ACADSB is involved in several metabolic pathways, including: 1. **Branched-chain amino acid catabolism**: ACADSB is a key enzyme in the oxidation of 2-methylbutyryl-CoA and 2-methylpropanoyl-CoA, which are derived from the catabolism of leucine, isoleucine, and valine, respectively. 2. **Fatty acid metabolism**: ACADSB is involved in the oxidation of fatty acids, which is essential for energy production and lipid metabolism. 3. **Mitochondrial matrix**: ACADSB is a mitochondrial enzyme that operates within the mitochondrial matrix, where it contributes to the regulation of energy metabolism. **Clinical Significance** Dysregulation of ACADSB has been implicated in various diseases, including: 1. **Neurological disorders**: Mutations in the ACADSB gene have been linked to neurological disorders, such as epilepsy and neurodegenerative diseases, which are characterized by impaired energy metabolism and mitochondrial dysfunction. 2. **Metabolic disorders**: ACADSB dysfunction has been associated with metabolic disorders, such as metabolic syndrome, insulin resistance, and type 2 diabetes. 3. **Cancer**: ACADSB has been implicated in the development and progression of cancer, particularly in tissues with high energy demands, such as the liver and brain. In conclusion, ACADSB is a critical enzyme that plays a pivotal role in the regulation of branched-chain amino acid catabolism and fatty acid metabolism. Its dysregulation has been implicated in various diseases, highlighting the importance of this enzyme in maintaining energy homeostasis and overall health. Further research is needed to fully elucidate the mechanisms by which ACADSB regulates metabolic pathways and to develop therapeutic strategies for the treatment of diseases associated with ACADSB dysfunction.

Genular Protein ID: 1867644307

Symbol: ACDSB_HUMAN

Name: 2-methyl branched chain acyl-CoA dehydrogenase

UniProtKB Accession Codes:

P45954 B4DQ51 Q5SQN6 Q96CX7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 47 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 1 EMBL 20 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 11 Gene3D 3 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 2 RefSeq 2 Rhea 32 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7698750

Title: Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family.

PubMed ID: 7698750

DOI: 10.1006/geno.1994.1617

PubMed ID: 11013134

Title: 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

DOI: 10.1086/303105

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 8660691

Title: Cloning of a cDNA for short/branched chain acyl-Coenzyme A dehydrogenase from rat and characterization of its tissue expression and substrate specificity.

PubMed ID: 8660691

DOI: 10.1006/abbi.1996.0290

PubMed ID: 12855692

Title: A novel approach to the characterization of substrate specificity in short/branched chain Acyl-CoA dehydrogenase.

PubMed ID: 12855692

DOI: 10.1074/jbc.m306882200

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21430231

Title: Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathway.

PubMed ID: 21430231

DOI: 10.1124/dmd.110.037606

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 10832746

Title: 2-methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.

PubMed ID: 10832746

DOI: 10.1203/00006450-200006000-00025

PubMed ID: 16317551

Title: Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.

PubMed ID: 16317551

DOI: 10.1007/s00439-005-0070-4

Sequence Information:

  • Length: 432
  • Mass: 47485
  • Checksum: 1EB5F894B1944E99
  • Sequence:
    • MEGLAVRLLR GSRLLRRNFL TCLSSWKIPP HVSKSSQSEA LLNITNNGIH FAPLQTFTDE 
EMMIKSSVKK FAQEQIAPLV STMDENSKME KSVIQGLFQQ GLMGIEVDPE YGGTGASFLS 
TVLVIEELAK VDASVAVFCE IQNTLINTLI RKHGTEEQKA TYLPQLTTEK VGSFCLSEAG 
AGSDSFALKT RADKEGDYYV LNGSKMWISS AEHAGLFLVM ANVDPTIGYK GITSFLVDRD 
TPGLHIGKPE NKLGLRASST CPLTFENVKV PEANILGQIG HGYKYAIGSL NEGRIGIAAQ 
MLGLAQGCFD YTIPYIKERI QFGKRLFDFQ GLQHQVAHVA TQLEAARLLT YNAARLLEAG 
KPFIKEASMA KYYASEIAGQ TTSKCIEWMG GVGYTKDYPV EKYFRDAKIG TIYEGASNIQ 
LNTIAKHIDA EY

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.