Details for: ACAD8

Gene ID: 27034

Symbol: ACAD8

Ensembl ID: ENSG00000151498

Description: acyl-CoA dehydrogenase family member 8

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: 100.9996
    Cell Significance Index: -15.7100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 61.5234
    Cell Significance Index: -15.6100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 32.4271
    Cell Significance Index: -16.6800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 13.5934
    Cell Significance Index: -16.7600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.9354
    Cell Significance Index: -15.9000
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 4.3360
    Cell Significance Index: 5.6100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.3334
    Cell Significance Index: -17.1000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 2.9957
    Cell Significance Index: 570.1100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.0043
    Cell Significance Index: 60.2900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7643
    Cell Significance Index: 124.3000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5188
    Cell Significance Index: 26.9500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5165
    Cell Significance Index: 51.0900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4739
    Cell Significance Index: 32.7700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.4591
    Cell Significance Index: 53.5000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4542
    Cell Significance Index: 410.1300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4365
    Cell Significance Index: 87.5700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3492
    Cell Significance Index: 16.2800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3253
    Cell Significance Index: 20.5000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.2271
    Cell Significance Index: 16.0600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2190
    Cell Significance Index: 6.3100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2120
    Cell Significance Index: 29.1200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2010
    Cell Significance Index: 36.2300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1882
    Cell Significance Index: 102.7900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1738
    Cell Significance Index: 76.8500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1532
    Cell Significance Index: 105.9800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1443
    Cell Significance Index: 6.5400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1366
    Cell Significance Index: 48.9900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1127
    Cell Significance Index: 3.1500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1072
    Cell Significance Index: 13.7400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1058
    Cell Significance Index: 13.0100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0955
    Cell Significance Index: 18.9500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0480
    Cell Significance Index: 2.2600
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0478
    Cell Significance Index: 0.5700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0401
    Cell Significance Index: 1.0800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0281
    Cell Significance Index: 0.9000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0262
    Cell Significance Index: 0.6900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0206
    Cell Significance Index: 31.6500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0119
    Cell Significance Index: 2.0300
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.0091
    Cell Significance Index: 0.1300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0044
    Cell Significance Index: 0.1100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0033
    Cell Significance Index: 0.2200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0030
    Cell Significance Index: 5.6400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0019
    Cell Significance Index: 3.5800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0007
    Cell Significance Index: 0.5100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.0006
    Cell Significance Index: 0.0200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0004
    Cell Significance Index: -0.2900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0033
    Cell Significance Index: -2.4800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0038
    Cell Significance Index: -0.4900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0062
    Cell Significance Index: -0.4800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0076
    Cell Significance Index: -0.1600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0083
    Cell Significance Index: -11.3000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0085
    Cell Significance Index: -0.1800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0155
    Cell Significance Index: -0.9500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0183
    Cell Significance Index: -8.3000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0202
    Cell Significance Index: -1.3100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0219
    Cell Significance Index: -16.2100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0266
    Cell Significance Index: -3.8600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0282
    Cell Significance Index: -15.9300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0303
    Cell Significance Index: -2.2600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0331
    Cell Significance Index: -3.9000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0340
    Cell Significance Index: -21.2100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0348
    Cell Significance Index: -3.5500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0386
    Cell Significance Index: -11.1000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0435
    Cell Significance Index: -1.5300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0448
    Cell Significance Index: -2.3500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0562
    Cell Significance Index: -6.4400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0655
    Cell Significance Index: -1.9300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0734
    Cell Significance Index: -1.9600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0780
    Cell Significance Index: -2.2900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0840
    Cell Significance Index: -1.4100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0933
    Cell Significance Index: -19.6600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1155
    Cell Significance Index: -3.0900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1315
    Cell Significance Index: -10.4200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1371
    Cell Significance Index: -2.3500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1429
    Cell Significance Index: -1.9500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1489
    Cell Significance Index: -4.2500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1502
    Cell Significance Index: -3.8600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1546
    Cell Significance Index: -16.1000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.1596
    Cell Significance Index: -1.4700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1657
    Cell Significance Index: -7.3300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1746
    Cell Significance Index: -9.8000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1894
    Cell Significance Index: -11.6100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1973
    Cell Significance Index: -5.0400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2226
    Cell Significance Index: -8.4300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2417
    Cell Significance Index: -6.5800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2740
    Cell Significance Index: -14.2700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2875
    Cell Significance Index: -8.2400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3146
    Cell Significance Index: -10.0200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.3268
    Cell Significance Index: -7.0800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3345
    Cell Significance Index: -10.9500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3354
    Cell Significance Index: -11.7500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3571
    Cell Significance Index: -7.5800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.3689
    Cell Significance Index: -7.8900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.3717
    Cell Significance Index: -8.9200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.3778
    Cell Significance Index: -13.8700
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.3799
    Cell Significance Index: -4.1300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.3874
    Cell Significance Index: -4.0100
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.3976
    Cell Significance Index: -5.8700
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.4043
    Cell Significance Index: -9.3400
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.4049
    Cell Significance Index: -4.6000

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:** 1. **Mitochondrial localization**: ACAD8 is primarily found in the mitochondrial matrix, where it contributes to the breakdown of fatty acids and BCAAs. 2. **Enzymatic activity**: ACAD8 exhibits acyl-CoA dehydrogenase activity, which involves the transfer of an acyl group from an acyl-CoA to FAD, generating FADH2. 3. **Substrate specificity**: ACAD8 has a preference for branched-chain amino acids (leucine, isoleucine, and valine) and other fatty acids, such as isobutyryl-CoA. 4. **Interactions with other proteins**: ACAD8 interacts with various proteins, including Enoyl-CoA hydratase, 3-Hydroxyacyl-CoA dehydrogenase, and 3-Ketoacyl-CoA thiolase, to regulate lipid metabolism. **Pathways and Functions:** 1. **Branched-chain amino acid catabolism**: ACAD8 plays a crucial role in the breakdown of BCAAs, which are essential amino acids that cannot be synthesized by humans. 2. **Lipid metabolic process**: ACAD8 is involved in the breakdown of various fatty acids, including isobutyryl-CoA, which is a key intermediate in the metabolism of branched-chain amino acids. 3. **Mitochondrial matrix**: ACAD8 is localized to the mitochondrial matrix, where it contributes to the regulation of mitochondrial protein degradation and the maintenance of mitochondrial function. 4. **Flavin adenine dinucleotide (FAD) binding**: ACAD8 binds FAD, generating FADH2, which is an essential cofactor for various cellular processes, including energy production and antioxidant defenses. **Clinical Significance:** Dysregulation of ACAD8 has been implicated in various diseases, including: 1. **Neurodegenerative disorders**: ACAD8 mutations have been associated with neurodegenerative diseases, such as epilepsy, ataxia, and Parkinson's disease. 2. **Metabolic disorders**: ACAD8 dysfunction has been linked to metabolic disorders, including fatty acid oxidation disorders and mitochondrial myopathies. 3. **Cancer**: ACAD8 has been implicated in cancer development and progression, particularly in the context of mitochondrial dysfunction and energy metabolism. In conclusion, ACAD8 is a crucial enzyme that plays a pivotal role in mitochondrial lipid metabolism and beyond. Its dysregulation has significant clinical implications, highlighting the importance of understanding the functions and regulation of this enzyme in maintaining cellular homeostasis.

Genular Protein ID: 824288884

Symbol: ACAD8_HUMAN

Name: Isobutyryl-CoA dehydrogenase, mitochondrial

UniProtKB Accession Codes:

Q9UKU7 B7Z5W4 Q6ZWP6 Q9BUS8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEBI 22 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 1 EMBL 18 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 6 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 12 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10524212

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

PubMed ID: 10524212

DOI: 10.1016/s0167-4781(99)00102-5

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: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

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: 10235267

Title: Composite co-activator ARC mediates chromatin-directed transcriptional activation.

PubMed ID: 10235267

DOI: 10.1038/19789

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 14752098

Title: Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenases.

PubMed ID: 14752098

DOI: 10.1074/jbc.m400034200

PubMed ID: 12359132

Title: Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.

PubMed ID: 12359132

DOI: 10.1016/s1096-7192(02)00152-x

PubMed ID: 15505379

Title: Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.

PubMed ID: 15505379

DOI: 10.1023/b:boli.0000045798.12425.1b

PubMed ID: 16857760

Title: Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.

PubMed ID: 16857760

DOI: 10.1203/01.pdr.0000233085.72522.04

Sequence Information:

  • Length: 415
  • Mass: 45070
  • Checksum: CAFFE91B74E2362D
  • Sequence:
    • MLWSGCRRFG ARLGCLPGGL RVLVQTGHRS LTSCIDPSMG LNEEQKEFQK VAFDFAAREM 
APNMAEWDQK ELFPVDVMRK AAQLGFGGVY IQTDVGGSGL SRLDTSVIFE ALATGCTSTT 
AYISIHNMCA WMIDSFGNEE QRHKFCPPLC TMEKFASYCL TEPGSGSDAA SLLTSAKKQG 
DHYILNGSKA FISGAGESDI YVVMCRTGGP GPKGISCIVV EKGTPGLSFG KKEKKVGWNS 
QPTRAVIFED CAVPVANRIG SEGQGFLIAV RGLNGGRINI ASCSLGAAHA SVILTRDHLN 
VRKQFGEPLA SNQYLQFTLA DMATRLVAAR LMVRNAAVAL QEERKDAVAL CSMAKLFATD 
ECFAICNQAL QMHGGYGYLK DYAVQQYVRD SRVHQILEGS NEVMRILISR SLLQE

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.