Details for: ACADSB

Gene ID: 36

Symbol: ACADSB

Ensembl ID: ENSG00000196177

Description: acyl-CoA dehydrogenase short/branched chain

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 5.05
    Marker Score: 16558
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.89
    Marker Score: 7278.5
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.59
    Marker Score: 12180
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.54
    Marker Score: 56746
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.5
    Marker Score: 92007.5
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.47
    Marker Score: 6344
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168472
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.46
    Marker Score: 7840
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.45
    Marker Score: 12455
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.45
    Marker Score: 21679
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.44
    Marker Score: 54730
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.43
    Marker Score: 13608
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.43
    Marker Score: 14737.5
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.42
    Marker Score: 9152
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.37
    Marker Score: 12921
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.37
    Marker Score: 2120
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.3
    Marker Score: 25767
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.27
    Marker Score: 5263
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.24
    Marker Score: 3333
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.23
    Marker Score: 5018
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.23
    Marker Score: 4753
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.21
    Marker Score: 599
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.18
    Marker Score: 4199
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.03
    Marker Score: 22089
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71751
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47975
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.99
    Marker Score: 2341
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30400
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.96
    Marker Score: 1021
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.95
    Marker Score: 278
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2405
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 485
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 440
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.93
    Marker Score: 4301
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.93
    Marker Score: 541
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2716
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.88
    Marker Score: 13801
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.87
    Marker Score: 4986
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.87
    Marker Score: 959
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.86
    Marker Score: 502
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 310
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.86
    Marker Score: 2106
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.84
    Marker Score: 3503
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.82
    Marker Score: 1201
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.81
    Marker Score: 1784
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.8
    Marker Score: 545
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.8
    Marker Score: 1409
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 602
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1266
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.78
    Marker Score: 816
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.75
    Marker Score: 300.5
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.73
    Marker Score: 1844
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 377
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.72
    Marker Score: 3031
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.72
    Marker Score: 301
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.71
    Marker Score: 11371
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.69
    Marker Score: 4472
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 619
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.66
    Marker Score: 1341
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.66
    Marker Score: 246
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.66
    Marker Score: 848
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.66
    Marker Score: 179
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.65
    Marker Score: 566
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.64
    Marker Score: 3361
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.64
    Marker Score: 382
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.63
    Marker Score: 239
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.63
    Marker Score: 199
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.62
    Marker Score: 669
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.62
    Marker Score: 158
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.62
    Marker Score: 153
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.61
    Marker Score: 148
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.6
    Marker Score: 851
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.6
    Marker Score: 1438
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.59
    Marker Score: 1673
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.58
    Marker Score: 673
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.58
    Marker Score: 963
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.57
    Marker Score: 165
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.57
    Marker Score: 2241
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.56
    Marker Score: 1030
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.56
    Marker Score: 194
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.55
    Marker Score: 3331
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.55
    Marker Score: 1255
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.54
    Marker Score: 219
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 431
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.54
    Marker Score: 859
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.53
    Marker Score: 172
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.53
    Marker Score: 529
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.53
    Marker Score: 310
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.53
    Marker Score: 4552
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.52
    Marker Score: 1104
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.52
    Marker Score: 343
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.52
    Marker Score: 360
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.52
    Marker Score: 604
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.52
    Marker Score: 991
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.51
    Marker Score: 552.5
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.51
    Marker Score: 212
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.51
    Marker Score: 681
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.5
    Marker Score: 459

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Other Information

**Key characteristics**: - It is a multi-functional enzyme that participates in multiple metabolic pathways. - It is involved in the 2-methylation of acetyl-CoA, the initial step in the synthesis of ketone bodies. - It is also involved in the biosynthesis of branched-chain amino acids and the metabolism of fatty acids. - It is a key regulator of the mitochondrial matrix and is involved in mitochondrial protein degradation. **Pathways and functions**: - The ACADSB gene is involved in the following metabolic pathways: - 2-methylbutanoyl-CoA dehydrogenase activity - 2-methylpropanoyl-CoA dehydrogenase activity - Acyl-CoA dehydrogenase activity - Branched-chain amino acid catabolism - Fatty acid metabolic process - Flavin adenine dinucleotide binding - Identical protein binding - Isoleucine catabolic process - Metabolism - Metabolism of amino acids and derivatives - Metabolism of proteins - Mitochondrial matrix - Mitochondrial protein degradation - Mitochondrion - It plays a role in maintaining cellular homeostasis and regulating energy metabolism. **Clinical significance**: - Mutations in the ACADSB gene have been linked to several human diseases, including liver disease, cancer, and metabolic disorders. - ACADSB inhibitors are being investigated as potential therapeutic agents for these diseases.

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 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 11 Gene3D 3 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 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 1 RefSeq 2 Rhea 32 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 2 UniProtKB 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. For the full schema, download it here.