Details for: ACADM

Gene ID: 34

Symbol: ACADM

Ensembl ID: ENSG00000117054

Description: acyl-CoA dehydrogenase medium 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: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 2.2
    Marker Score: 5,887
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 2.16
    Marker Score: 7,666
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 2.14
    Marker Score: 3,076
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 2.09
    Marker Score: 5,268
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 2.03
    Marker Score: 3,360
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.77
    Marker Score: 1,786
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.7
    Marker Score: 37,968
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.69
    Marker Score: 488
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.69
    Marker Score: 1,790
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.62
    Marker Score: 2,387
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.61
    Marker Score: 99,172
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.59
    Marker Score: 4,322
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.57
    Marker Score: 4,649
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.56
    Marker Score: 1,960
  • Cell Name: oocyte (CL0000023)
    Fold Change: 1.54
    Marker Score: 381
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.53
    Marker Score: 56,601
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.53
    Marker Score: 14,365
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.49
    Marker Score: 1,555
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.48
    Marker Score: 3,097
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.48
    Marker Score: 6,028
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.47
    Marker Score: 12,781
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.46
    Marker Score: 13,886
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.45
    Marker Score: 28,925
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 1.45
    Marker Score: 2,531
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 1.45
    Marker Score: 2,051
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.44
    Marker Score: 5,912
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.44
    Marker Score: 2,044
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.43
    Marker Score: 25,443
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.43
    Marker Score: 12,351
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.41
    Marker Score: 14,322
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.41
    Marker Score: 14,568
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.4
    Marker Score: 1,483
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.4
    Marker Score: 2,161
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.39
    Marker Score: 52,887
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.39
    Marker Score: 11,903
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.37
    Marker Score: 681
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.37
    Marker Score: 911
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.35
    Marker Score: 2,959
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.35
    Marker Score: 564
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.33
    Marker Score: 8,572
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.32
    Marker Score: 309
  • Cell Name: centroblast (CL0009112)
    Fold Change: 1.31
    Marker Score: 647
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.3
    Marker Score: 5,402
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.29
    Marker Score: 1,452
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.29
    Marker Score: 873
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.28
    Marker Score: 1,700
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.28
    Marker Score: 5,508
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.28
    Marker Score: 2,168
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 1.27
    Marker Score: 624
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.27
    Marker Score: 3,467
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.26
    Marker Score: 659
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.25
    Marker Score: 1,179
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.25
    Marker Score: 3,930
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.25
    Marker Score: 4,824
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.24
    Marker Score: 1,326
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.22
    Marker Score: 6,583
  • Cell Name: germinal center B cell (CL0000844)
    Fold Change: 1.22
    Marker Score: 744
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.21
    Marker Score: 1,258
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.2
    Marker Score: 1,215
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 1.19
    Marker Score: 486
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.19
    Marker Score: 894
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.19
    Marker Score: 4,095
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 1.19
    Marker Score: 811
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.18
    Marker Score: 5,657
  • Cell Name: late pro-B cell (CL0002048)
    Fold Change: 1.17
    Marker Score: 1,382
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.15
    Marker Score: 4,083
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 1.15
    Marker Score: 720
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 1.14
    Marker Score: 714
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 1.14
    Marker Score: 400
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 1.14
    Marker Score: 4,421
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.14
    Marker Score: 1,210
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 1.14
    Marker Score: 375
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.14
    Marker Score: 24,248
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.13
    Marker Score: 16,956
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.13
    Marker Score: 623
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.13
    Marker Score: 420
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.12
    Marker Score: 2,652
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.11
    Marker Score: 1,201
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.11
    Marker Score: 2,621
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 1.11
    Marker Score: 1,067
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.11
    Marker Score: 302
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.1
    Marker Score: 608
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.1
    Marker Score: 643
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.1
    Marker Score: 1,014
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.1
    Marker Score: 412
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.1
    Marker Score: 263
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.09
    Marker Score: 10,981
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.09
    Marker Score: 4,549
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.09
    Marker Score: 2,299
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.08
    Marker Score: 348
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 1.08
    Marker Score: 2,056
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 1.08
    Marker Score: 783
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.08
    Marker Score: 8,272
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.08
    Marker Score: 2,456
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.07
    Marker Score: 314
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.07
    Marker Score: 732
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.07
    Marker Score: 3,509
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.07
    Marker Score: 402
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.06
    Marker Score: 1,144
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 1.06
    Marker Score: 1,270

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** The ACADM gene is a single-coding gene located on chromosome 11q13.3. It is approximately 24 kb in length and consists of 12 exons. The gene product, acyl-CoA dehydrogenase medium chain, is a mitochondrial enzyme that belongs to the long-chain acyl-CoA dehydrogenase family. The enzyme is composed of four subunits, each with a distinct function, and is responsible for the initial step of beta-oxidation of MCFAs. The ACADM enzyme is unique in that it is the only enzyme in the beta-oxidation pathway that specifically recognizes and oxidizes MCFAs. **Pathways and Functions** The ACADM gene is involved in several key pathways, including: 1. **Beta-oxidation of medium-chain fatty acids**: The ACADM enzyme is responsible for the initial step of beta-oxidation of MCFAs, which involves the removal of two carbons from the fatty acid chain. 2. **Fatty acid beta-oxidation**: The ACADM enzyme is part of the broader fatty acid beta-oxidation pathway, which is essential for the generation of energy from fatty acids. 3. **Carnitine biosynthetic process**: The ACADM enzyme is involved in the synthesis of carnitine, an essential cofactor for fatty acid transport into mitochondria. 4. **Glycogen biosynthetic process**: The ACADM enzyme has been shown to regulate glycogen synthesis, suggesting that it plays a role in glucose metabolism. **Clinical Significance** Mutations in the ACADM gene have been associated with a range of clinical conditions, including: 1. **Cardiomyopathy**: Mutations in the ACADM gene have been linked to cardiomyopathy, a condition characterized by abnormal heart muscle function. 2. **Hypoglycemia**: The ACADM enzyme plays a role in glucose metabolism, and mutations in the gene have been associated with hypoglycemia, a condition characterized by low blood sugar levels. 3. **Developmental delays**: Mutations in the ACADM gene have been linked to developmental delays and cognitive impairment. 4. **Lipid metabolism disorders**: The ACADM enzyme plays a critical role in lipid metabolism, and mutations in the gene have been associated with disorders of lipid metabolism, including hypertriglyceridemia and dyslipidemia. In summary, the ACADM gene is a critical component of the beta-oxidation pathway, and mutations in the gene have significant clinical implications. Further research is needed to fully understand the role of the ACADM enzyme in human health and disease.

Genular Protein ID: 1201776157

Symbol: ACADM_HUMAN

Name: N/A

UniProtKB Accession Codes:

P11310 Q5T4U4 Q9NYF1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 51 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 EC 1 EMBL 18 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 23 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HPA 1 InParanoid 1 IntAct 1 InterPro 9 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 16 PDBsum 6 PIR 1 PIRSF 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 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 4 RefSeq 2 Rhea 32 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCD-2DPAGE 1 UCSC 1 UniPathway 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3035565

Title: Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue.

PubMed ID: 3035565

DOI: 10.1073/pnas.84.12.4068

PubMed ID: 1731887

Title: Structural organization and regulatory regions of the human medium-chain acyl-CoA dehydrogenase gene.

PubMed ID: 1731887

DOI: 10.1021/bi00116a013

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 2393404

Title: Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.

PubMed ID: 2393404

DOI: 10.1016/0006-291x(90)91421-n

PubMed ID: 1970566

Title: Characterization of wild-type and an active site mutant of human medium chain acyl-CoA dehydrogenase after expression in Escherichia coli.

PubMed ID: 1970566

DOI: 10.1016/s0021-9258(19)39086-6

PubMed ID: 8823175

Title: Medium-long-chain chimeric human Acyl-CoA dehydrogenase: medium-chain enzyme with the active center base arrangement of long-chain Acyl-CoA dehydrogenase.

PubMed ID: 8823175

DOI: 10.1021/bi960785e

PubMed ID: 16020546

Title: Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids.

PubMed ID: 16020546

DOI: 10.1074/jbc.m504460200

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: 24121500

Title: SIRT3 regulates long-chain acyl-coA dehydrogenase by deacetylating conserved lysines near the active site.

PubMed ID: 24121500

DOI: 10.1074/jbc.m113.510354

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: 25416781

Title: Human METTL20 is a mitochondrial lysine methyltransferase that targets the beta subunit of electron transfer flavoprotein (ETFbeta) and modulates its activity.

PubMed ID: 25416781

DOI: 10.1074/jbc.m114.614115

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 8823176

Title: Crystal structures of the wild type and the Glu376Gly/Thr255Glu mutant of human medium-chain acyl-CoA dehydrogenase: influence of the location of the catalytic base on substrate specificity.

PubMed ID: 8823176

DOI: 10.1021/bi9607867

PubMed ID: 15159392

Title: Extensive domain motion and electron transfer in the human electron transferring flavoprotein.medium chain acyl-CoA dehydrogenase complex.

PubMed ID: 15159392

DOI: 10.1074/jbc.m404884200

PubMed ID: 15975918

Title: Stabilization of non-productive conformations underpins rapid electron transfer to electron-transferring flavoprotein.

PubMed ID: 15975918

DOI: 10.1074/jbc.m505562200

PubMed ID: 1363805

Title: Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.

PubMed ID: 1363805

DOI: 10.1002/humu.1380010402

PubMed ID: 2394825

Title: Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.

PubMed ID: 2394825

DOI: 10.1172/jci114761

PubMed ID: 2251268

Title: Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.

PubMed ID: 2251268

DOI: 10.1073/pnas.87.23.9236

PubMed ID: 1684086

Title: Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.

PubMed ID: 1684086

PubMed ID: 1902818

Title: Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli.

PubMed ID: 1902818

DOI: 10.1007/bf00201539

PubMed ID: 1671131

Title: Frequency of the G985 MCAD mutation in the general population.

PubMed ID: 1671131

DOI: 10.1016/0140-6736(91)90907-7

PubMed ID: 8198141

Title: Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.

PubMed ID: 8198141

PubMed ID: 7603790

Title: Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.

PubMed ID: 7603790

DOI: 10.1203/00006450-199505000-00021

PubMed ID: 7929823

Title: A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.

PubMed ID: 7929823

DOI: 10.1172/jci117486

PubMed ID: 9158144

Title: The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

PubMed ID: 9158144

DOI: 10.1093/hmg/6.5.695

PubMed ID: 9882619

Title: Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site.

PubMed ID: 9882619

DOI: 10.1042/bj3370225

PubMed ID: 10767181

Title: Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.

PubMed ID: 10767181

DOI: 10.1006/mgme.2000.2978

PubMed ID: 11349232

Title: Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.

PubMed ID: 11349232

DOI: 10.1086/320602

PubMed ID: 11409868

Title: Molecular and functional characterization of mild MCAD deficiency.

PubMed ID: 11409868

DOI: 10.1007/s004390100501

PubMed ID: 11486912

Title: Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.

PubMed ID: 11486912

DOI: 10.1023/a:1010533408635

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

Sequence Information:

  • Length: 421
  • Mass: 46588
  • Checksum: 7CD0B5832410581B
  • Sequence:
    • MAAGFGRCCR VLRSISRFHW RSQHTKANRQ REPGLGFSFE FTEQQKEFQA TARKFAREEI 
IPVAAEYDKT GEYPVPLIRR AWELGLMNTH IPENCGGLGL GTFDACLISE ELAYGCTGVQ 
TAIEGNSLGQ MPIIIAGNDQ QKKKYLGRMT EEPLMCAYCV TEPGAGSDVA GIKTKAEKKG 
DEYIINGQKM WITNGGKANW YFLLARSDPD PKAPANKAFT GFIVEADTPG IQIGRKELNM 
GQRCSDTRGI VFEDVKVPKE NVLIGDGAGF KVAMGAFDKT RPVVAAGAVG LAQRALDEAT 
KYALERKTFG KLLVEHQAIS FMLAEMAMKV ELARMSYQRA AWEVDSGRRN TYYASIAKAF 
AGDIANQLAT DAVQILGGNG FNTEYPVEKL MRDAKIYQIY EGTSQIQRLI VAREHIDKYK 
N

Genular Protein ID: 3876072486

Symbol: B4DJE7_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DJE7

Database IDs:

ARBA 14 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChEBI 31 DNASU 1 EMBL 2 GO 2 Gene3D 2 GenomeRNAi 1 InterPro 6 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 1 PeptideAtlas 1 Pfam 4 ProteomicsDB 1 RefSeq 1 Rhea 24 RuleBase 1 SMR 1 SUPFAM 2

Sequence Information:

  • Length: 232
  • Mass: 25663
  • Checksum: B903551ACCD1B68B
  • Sequence:
    • MWITNGGKAN WYFLLARSDP DPKAPANKAF TGFIVEADTP GIQIGRKELN MGQRCSDTRG 
IVFEDVKVPK ENVLIGDGAG FKVAMGAFDK TRPVVAAGAV GLAQRALDEA TKYALERKTF 
GKLLVEHQAI SFMLAEMAMK VELARMSYQR AAWEVDSGRR NTYYASIAKA FAGDIANQLA 
TDAVQILGGN GFNTEYPVEK LMRDAKIYQI YEGTSQIQRL IVAREHIDKY KN

Genular Protein ID: 3154990699

Symbol: B7Z9I1_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7Z9I1

Database IDs:

ARBA 19 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 48 ChiTaRS 1 DNASU 1 EC 1 EMBL 2 EPD 1 ExpressionAtlas 1 GO 4 Gene3D 3 GenomeRNAi 1 HOGENOM 1 IntAct 1 InterPro 9 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PIRSR 3 PROSITE 2 PeptideAtlas 1 Pfam 6 ProteomicsDB 1 RefSeq 1 Rhea 32 RuleBase 1 SMR 1 SUPFAM 2 UCSC 1 UniPathway 1 VEuPathDB 1

Citations:

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: 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

Sequence Information:

  • Length: 385
  • Mass: 42427
  • Checksum: 73DDC14C91A62D6D
  • Sequence:
    • MLQEFTEQQK EFQATARKFA REEIIPVAAE YDKTGEYPVP LIRRAWELGL MNTHIPENCG 
GLGLGTFDAC LISEELAYGC TGVQTAIEGN SLGQMPIIIA GNDQQKKKYL GRMTEEPLMC 
AYCVTEPGAG SDVAGIKTKA EKKGDEYIIN GQKMWITNGG KANWYFLLAR SDPDPKAPAN 
KAFTGFIVEA DTPGIQIGRK ELNMGQRCSD TRGIVFEDVK VPKENVLIGD GAGFKVAMGA 
FDKTRPVVAA GAVGLAQRAL DEATKYALER KTFGKLLVEH QAISFMLAEM AMKVELARMS 
YQRAAWEVDS GRRNTYYASI AKAFAGDIAN QLATDAVQIL GGNGFNTEYP VEKLMRDAKI 
YQIYEGTSQI QRLIVAREHI DKYKN

Genular Protein ID: 1272169991

Symbol: Q5T4U5_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q5T4U5

Database IDs:

ARBA 19 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 48 ChiTaRS 1 DNASU 1 EC 1 EMBL 3 EPD 1 Ensembl 2 GO 5 Gene3D 3 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 9 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 3 PROSITE 2 Pfam 6 Proteomes 2 ProteomicsDB 1 RefSeq 1 Rhea 32 RuleBase 1 SUPFAM 2 UCSC 1 UniPathway 1 VEuPathDB 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 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

Sequence Information:

  • Length: 454
  • Mass: 50271
  • Checksum: E71D822F35F96E2A
  • Sequence:
    • MAAGFGRCCR VLRSISRFHW RSQHTKANRQ REPGLGFSFE FTEQQKEFQA TARKFAREEI 
IPVAAEYDKT GEYPVPLIRR AWELGLMNTH IPENCDYSVC PLLEACTLYL DAFFLLLTGS 
NLNLHLNLGG LGLGTFDACL ISEELAYGCT GVQTAIEGNS LGQMPIIIAG NDQQKKKYLG 
RMTEEPLMCA YCVTEPGAGS DVAGIKTKAE KKGDEYIING QKMWITNGGK ANWYFLLARS 
DPDPKAPANK AFTGFIVEAD TPGIQIGRKE LNMGQRCSDT RGIVFEDVKV PKENVLIGDG 
AGFKVAMGAF DKTRPVVAAG AVGLAQRALD EATKYALERK TFGKLLVEHQ AISFMLAEMA 
MKVELARMSY QRAAWEVDSG RRNTYYASIA KAFAGDIANQ LATDAVQILG GNGFNTEYPV 
EKLMRDAKIY QIYEGTSQIQ RLIVAREHID KYKN

Genular Protein ID: 1315751114

Symbol: Q5HYG7_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q5HYG7

Database IDs:

ARBA 19 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 46 DNASU 1 EC 1 EMBL 2 GO 4 Gene3D 3 GenomeRNAi 1 IntAct 1 InterPro 9 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 2 PROSITE 1 Pfam 6 RefSeq 1 Rhea 32 RuleBase 1 SUPFAM 2 UniPathway 1

Sequence Information:

  • Length: 454
  • Mass: 50309
  • Checksum: E92D9A3035F977E5
  • Sequence:
    • MAAGFGRCCR VLRSISRFHW RSQHTKANRQ REPGLGFSFE FTEQQKEFQA TARKFAREEI 
IPVAAEYDKT GEYPVPLIRR AWELGLMNTH IPENCDYSVC PLLEACTLYL DAFFLLLTGS 
NLNLHLNLGG LGLGTFDACL ISEELAYGCT GVQTAIEGNS LGQMPIIIAG NDQQKKKYLG 
RMTEEPLMCA YCVTEPGAGP DVAGIKTKAE KKGDEYIING QKMWITNGGK ANWYFLLARS 
DPDPKAPANK AFTGFIVEAD TPGIQIGRKE LNMGQRCSDT RGIVFEDVKV PKENVLIGDG 
AGFKVAMGAF DKTRPVVAAG AVGLAQRALD EATRYALERK TFGKLLVEHQ AISFMLAEMA 
MKVELARMSY QRAAWEVDSG RRNTYYASIA KAFAGDIANQ LATDAVQILG GNGFNTEYPV 
EKLMRDAKIY QIYEGTSQIQ RLIVAREHID KYKN

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.