Details for: ACADVL

Gene ID: 37

Symbol: ACADVL

Ensembl ID: ENSG00000072778

Description: acyl-CoA dehydrogenase very long chain

Associated with

Cells (max top 100)

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

  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 3.43
    Marker Score: 11,226
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 3.07
    Marker Score: 54,551
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 2.97
    Marker Score: 7,480
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 2.94
    Marker Score: 7,892
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 2.85
    Marker Score: 63,688
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 2.84
    Marker Score: 6,935
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 2.73
    Marker Score: 10,523
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 2.72
    Marker Score: 13,047
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 2.68
    Marker Score: 8,422
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 2.68
    Marker Score: 91,180
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 2.66
    Marker Score: 1,748
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 2.63
    Marker Score: 1,530
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 2.58
    Marker Score: 2,036
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 2.56
    Marker Score: 4,244
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 2.55
    Marker Score: 9,042
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 2.55
    Marker Score: 12,505
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 2.54
    Marker Score: 21,922
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 2.4
    Marker Score: 4,250
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 2.37
    Marker Score: 3,353
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 2.36
    Marker Score: 839
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 2.31
    Marker Score: 1,547
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.31
    Marker Score: 3,397
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.27
    Marker Score: 8,905
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 2.26
    Marker Score: 14,432
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 2.23
    Marker Score: 2,364
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 2.19
    Marker Score: 4,989
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 2.19
    Marker Score: 17,083
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.18
    Marker Score: 75,341
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 2.17
    Marker Score: 11,646
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 2.16
    Marker Score: 2,190
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 2.14
    Marker Score: 15,952
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 2.14
    Marker Score: 3,301
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 2.11
    Marker Score: 2,248
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 2.09
    Marker Score: 1,016
  • Cell Name: club cell (CL0000158)
    Fold Change: 2.08
    Marker Score: 2,430
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 2.08
    Marker Score: 1,704
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 2.05
    Marker Score: 1,013
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 2.03
    Marker Score: 3,232
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 2.02
    Marker Score: 959
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 2.01
    Marker Score: 3,774
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 2
    Marker Score: 497
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 2
    Marker Score: 3,647
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 1.98
    Marker Score: 723
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 1.97
    Marker Score: 4,460
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 1.95
    Marker Score: 1,658
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.94
    Marker Score: 1,685
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.94
    Marker Score: 4,613
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.93
    Marker Score: 6,649
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.93
    Marker Score: 725
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.92
    Marker Score: 30,880
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.92
    Marker Score: 895
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.9
    Marker Score: 2,149
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.89
    Marker Score: 8,134
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.89
    Marker Score: 3,093
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.85
    Marker Score: 1,920
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.85
    Marker Score: 6,844
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.82
    Marker Score: 11,652
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.82
    Marker Score: 2,351
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.8
    Marker Score: 46,172
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.79
    Marker Score: 427
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.78
    Marker Score: 6,331
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.78
    Marker Score: 1,702
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 1.77
    Marker Score: 738
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.76
    Marker Score: 3,718
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 1.76
    Marker Score: 558
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 1.75
    Marker Score: 714
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 1.74
    Marker Score: 4,567
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.74
    Marker Score: 1,190
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 1.74
    Marker Score: 1,228
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 1.74
    Marker Score: 433
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 1.73
    Marker Score: 478
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.73
    Marker Score: 646
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.73
    Marker Score: 489
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.72
    Marker Score: 645
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 1.72
    Marker Score: 433
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 1.72
    Marker Score: 982
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.72
    Marker Score: 1,436
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.72
    Marker Score: 1,713
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.72
    Marker Score: 496
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.71
    Marker Score: 2,756
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.71
    Marker Score: 1,518
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 1.69
    Marker Score: 1,178
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.69
    Marker Score: 7,295
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 1.69
    Marker Score: 1,201
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.69
    Marker Score: 36,025
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.68
    Marker Score: 10,806
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.68
    Marker Score: 634
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.67
    Marker Score: 1,537
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.65
    Marker Score: 10,771
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 1.65
    Marker Score: 1,471
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.65
    Marker Score: 1,572
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.65
    Marker Score: 664
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.65
    Marker Score: 1,734
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.64
    Marker Score: 919
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.64
    Marker Score: 91,919
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 1.63
    Marker Score: 357
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.62
    Marker Score: 679
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 1.62
    Marker Score: 1,896
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.61
    Marker Score: 378
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.61
    Marker Score: 1,097

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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. **Function**: ACADVL is a mitochondrial enzyme that catalyzes the first step in the beta-oxidation of very-long-chain fatty acids, converting them into acyl-CoA, which is then further processed by other enzymes. 2. **Subcellular localization**: The ACADVL protein is localized to the mitochondrial inner membrane, where it is embedded in the mitochondrial membrane. 3. **Expression**: ACADVL is highly expressed in various tissues, including the liver, adrenal gland, kidney, and heart, where it plays a crucial role in energy production and fatty acid metabolism. 4. **Structural features**: The ACADVL protein has a characteristic FAD-binding domain, which is essential for its enzymatic activity. **Pathways and functions** ACADVL is involved in several key pathways, including: 1. **Beta-oxidation of fatty acids**: ACADVL catalyzes the first step in the beta-oxidation of very-long-chain fatty acids, converting them into acyl-CoA. 2. **Mitochondrial fatty acid beta-oxidation**: ACADVL is a key enzyme in the mitochondrial fatty acid beta-oxidation pathway, which is essential for energy production in the mitochondria. 3. **Fatty acid metabolism**: ACADVL is involved in the regulation of fatty acid metabolism, particularly in the breakdown of fatty acids. 4. **Energy derivation by oxidation of organic compounds**: ACADVL plays a crucial role in the energy derivation by oxidation of organic compounds, particularly fatty acids. **Clinical significance** Mutations in the ACADVL gene have been associated with various disorders, including: 1. **Fatty acid oxidation deficiencies**: ACADVL mutations can lead to fatty acid oxidation deficiencies, which can cause serious health complications, including hypoglycemia, lactic acidosis, and cardiac arrhythmias. 2. **Neonatal adrenoleukodystrophy**: Mutations in the ACADVL gene have been associated with neonatal adrenoleukodystrophy, a rare genetic disorder characterized by progressive neurological and adrenal gland dysfunction. 3. **Adrenal insufficiency**: ACADVL mutations can also lead to adrenal insufficiency, particularly in individuals with adrenal gland abnormalities. In conclusion, the ACADVL gene plays a critical role in fatty acid metabolism and energy production in the mitochondria. Mutations in this gene can lead to various disorders, highlighting the importance of understanding the function and regulation of this enzyme.

Genular Protein ID: 1016093399

Symbol: ACADV_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7668252

Title: Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients.

PubMed ID: 7668252

PubMed ID: 8845838

Title: Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.

PubMed ID: 8845838

DOI: 10.1093/hmg/5.4.461

PubMed ID: 8554625

Title: Genomic DNA organization of human mitochondrial very-long-chain acyl-CoA dehydrogenase and mutation analysis.

PubMed ID: 8554625

DOI: 10.1006/bbrc.1995.2867

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

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: 7769092

Title: Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.

PubMed ID: 7769092

DOI: 10.1172/jci117947

PubMed ID: 9461620

Title: Catalytic and FAD-binding residues of mitochondrial very long chain acyl-coenzyme A dehydrogenase.

PubMed ID: 9461620

DOI: 10.1074/jbc.273.7.4227

PubMed ID: 9973285

Title: Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

PubMed ID: 9973285

DOI: 10.1086/302261

PubMed ID: 17374501

Title: Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.

PubMed ID: 17374501

DOI: 10.1016/j.ymgme.2007.01.013

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: 21237683

Title: Identification and characterization of new long chain acyl-CoA dehydrogenases.

PubMed ID: 21237683

DOI: 10.1016/j.ymgme.2010.12.005

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

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: 18227065

Title: Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenase.

PubMed ID: 18227065

DOI: 10.1074/jbc.m709135200

PubMed ID: 8554073

Title: Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients.

PubMed ID: 8554073

PubMed ID: 9546340

Title: Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset.

PubMed ID: 9546340

DOI: 10.1002/ana.410430422

PubMed ID: 9839948

Title: Relationship between structure and substrate-chain-length specificity of mitochondrial very-long-chain acyl-coenzyme A dehydrogenase.

PubMed ID: 9839948

DOI: 10.1046/j.1432-1327.1998.2570592.x

PubMed ID: 9599005

Title: Very-long-chain acyl-CoA dehydrogenase subunit assembles to the dimer form on mitochondrial inner membrane.

PubMed ID: 9599005

DOI: 10.1016/s0014-5793(98)00343-3

PubMed ID: 10077518

Title: Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.

PubMed ID: 10077518

DOI: 10.1161/01.cir.99.10.1337

Sequence Information:

  • Length: 655
  • Mass: 70390
  • Checksum: A5594D1EA7911D19
  • Sequence:
  • MQAARMAASL GRQLLRLGGG SSRLTALLGQ PRPGPARRPY AGGAAQLALD KSDSHPSDAL 
    TRKKPAKAES KSFAVGMFKG QLTTDQVFPY PSVLNEEQTQ FLKELVEPVS RFFEEVNDPA 
    KNDALEMVEE TTWQGLKELG AFGLQVPSEL GGVGLCNTQY ARLVEIVGMH DLGVGITLGA 
    HQSIGFKGIL LFGTKAQKEK YLPKLASGET VAAFCLTEPS SGSDAASIRT SAVPSPCGKY 
    YTLNGSKLWI SNGGLADIFT VFAKTPVTDP ATGAVKEKIT AFVVERGFGG ITHGPPEKKM 
    GIKASNTAEV FFDGVRVPSE NVLGEVGSGF KVAMHILNNG RFGMAAALAG TMRGIIAKAV 
    DHATNRTQFG EKIHNFGLIQ EKLARMVMLQ YVTESMAYMV SANMDQGATD FQIEAAISKI 
    FGSEAAWKVT DECIQIMGGM GFMKEPGVER VLRDLRIFRI FEGTNDILRL FVALQGCMDK 
    GKELSGLGSA LKNPFGNAGL LLGEAGKQLR RRAGLGSGLS LSGLVHPELS RSGELAVRAL 
    EQFATVVEAK LIKHKKGIVN EQFLLQRLAD GAIDLYAMVV VLSRASRSLS EGHPTAQHEK 
    MLCDTWCIEA AARIREGMAA LQSDPWQQEL YRNFKSISKA LVERGGVVTS NPLGF

Genular Protein ID: 1807849729

Symbol: B3KPA6_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 579
  • Mass: 62582
  • Checksum: F354E18C74751AE8
  • Sequence:
  • MFKGQLTTDQ VFPYPSVLNE EQTQFLKELV EPVSRFFEEV NDPAKNDALE MVEETTWQGL 
    KELGAFGLQV PSELGGVGLC NTQYARLVEI VGMHDLGVGI TLGAHQSIGF KGILLFGTKA 
    QKEKYLPKLA SGETVAAFCL TEPSSGSDAA SIRTSAVPSP CGKYYTLNGS KLWISNGGLA 
    DIFTVFAKTP VTDPATGAVK EKITAFVVER GFGGITHGPP EKKMGIKASN TAEVFFDGVR 
    VPSENVLGEV GSGFKVAMHI LNNGRFGMAA ALAGTMRGII AKAVDHATNR TQFGEKIHNF 
    GLIQEKLARM VMLQYVTESM AYMVSANMDQ GATDFQIEAA ISKIFGSEAA WKVTDECIQI 
    MGGMGFMKEP GVERVLRDLR IFRIFEGTND ILRLFVALQG CMDKGKELSG LGSALKNPFG 
    NAGLLLGEAG KQLRRRAGLG SGLSLSGLVH PELSRSGELA VRALEQFATV VEAKLIKHKK 
    GIVNEQFLLQ RLADGAIDLY AMVVVLSRAS RSLSEGHPTA QHEKMLCDTW CIEAAARIRE 
    GMAALQSDPW QQELYRNFKS ISKALVERGG VVTSNPLGF

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.