Details for: CPT2

Gene ID: 1376

Symbol: CPT2

Ensembl ID: ENSG00000157184

Description: carnitine palmitoyltransferase 2

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: 69.6903
    Cell Significance Index: -10.8400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 39.2677
    Cell Significance Index: -9.9600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 27.2734
    Cell Significance Index: -11.0800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 26.6456
    Cell Significance Index: -12.5800
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 18.6730
    Cell Significance Index: -12.5300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 9.3840
    Cell Significance Index: -11.5700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.2593
    Cell Significance Index: -11.4100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 3.4762
    Cell Significance Index: 240.4000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.9777
    Cell Significance Index: -11.7500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.5811
    Cell Significance Index: 42.3700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.8993
    Cell Significance Index: 12.2700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.8838
    Cell Significance Index: 103.0000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.8590
    Cell Significance Index: 7.9100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6538
    Cell Significance Index: 590.3500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5961
    Cell Significance Index: 27.0200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5694
    Cell Significance Index: 29.5800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5580
    Cell Significance Index: 12.0900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.4363
    Cell Significance Index: 11.6500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3913
    Cell Significance Index: 74.4600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3413
    Cell Significance Index: 61.5200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.3120
    Cell Significance Index: 7.9700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3038
    Cell Significance Index: 165.9100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3022
    Cell Significance Index: 59.9700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2788
    Cell Significance Index: 17.5700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2379
    Cell Significance Index: 23.5300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.1951
    Cell Significance Index: 6.2500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1924
    Cell Significance Index: 23.6600
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.1633
    Cell Significance Index: 2.3400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1482
    Cell Significance Index: 6.9100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.1412
    Cell Significance Index: 2.9300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1395
    Cell Significance Index: 19.1600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1292
    Cell Significance Index: 9.1400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1242
    Cell Significance Index: 14.6500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.1037
    Cell Significance Index: 2.7800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1033
    Cell Significance Index: 45.6700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0944
    Cell Significance Index: 2.0100
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.0922
    Cell Significance Index: 2.1300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.0870
    Cell Significance Index: 1.4700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0727
    Cell Significance Index: 50.3100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0726
    Cell Significance Index: 11.8200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0561
    Cell Significance Index: 1.9700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0527
    Cell Significance Index: 10.5800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0518
    Cell Significance Index: 6.6400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.0483
    Cell Significance Index: 1.6800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0459
    Cell Significance Index: 1.2500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0443
    Cell Significance Index: 2.8600
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.0307
    Cell Significance Index: 0.4600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0217
    Cell Significance Index: 15.9400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0192
    Cell Significance Index: 3.2700
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.0184
    Cell Significance Index: 0.1500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0178
    Cell Significance Index: 6.3900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0109
    Cell Significance Index: 1.2500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0051
    Cell Significance Index: 0.4000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0015
    Cell Significance Index: 2.9000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0006
    Cell Significance Index: 0.3900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0030
    Cell Significance Index: -2.2800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0032
    Cell Significance Index: -0.0900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0049
    Cell Significance Index: -9.0300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0051
    Cell Significance Index: -7.8000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0080
    Cell Significance Index: -10.9000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0096
    Cell Significance Index: -0.1600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0126
    Cell Significance Index: -1.2900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0127
    Cell Significance Index: -9.3800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0175
    Cell Significance Index: -7.9500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0197
    Cell Significance Index: -11.1100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0206
    Cell Significance Index: -3.0000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0226
    Cell Significance Index: -14.1200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0310
    Cell Significance Index: -8.9200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0412
    Cell Significance Index: -5.3200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0569
    Cell Significance Index: -4.2400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0631
    Cell Significance Index: -13.3000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0640
    Cell Significance Index: -3.5900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0681
    Cell Significance Index: -3.2000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0734
    Cell Significance Index: -2.1200
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.0751
    Cell Significance Index: -0.6000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0761
    Cell Significance Index: -6.0300
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.0917
    Cell Significance Index: -0.7700
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1020
    Cell Significance Index: -3.0000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1032
    Cell Significance Index: -2.5800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1091
    Cell Significance Index: -5.7300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1093
    Cell Significance Index: -11.3800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.1099
    Cell Significance Index: -1.3100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1187
    Cell Significance Index: -3.1200
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1367
    Cell Significance Index: -1.4100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1373
    Cell Significance Index: -8.4400
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.1382
    Cell Significance Index: -2.3300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1409
    Cell Significance Index: -8.6400
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1409
    Cell Significance Index: -2.0800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1641
    Cell Significance Index: -8.2900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1654
    Cell Significance Index: -11.1200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1655
    Cell Significance Index: -8.6200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1681
    Cell Significance Index: -4.9500
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.1960
    Cell Significance Index: -3.1100
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.2124
    Cell Significance Index: -1.3900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2195
    Cell Significance Index: -3.2400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2234
    Cell Significance Index: -9.8800
  • Cell Name: germ cell (CL0000586)
    Fold Change: -0.2304
    Cell Significance Index: -1.7400
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.2370
    Cell Significance Index: -4.3800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2373
    Cell Significance Index: -6.1000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2410
    Cell Significance Index: -5.0500

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:** CPT2 is a member of the carnitine palmitoyltransferase family, which catalyzes the transfer of a palmitoyl group from CoA to carnitine, generating acyl-carnitine and releasing fatty acids into the mitochondrial inner membrane for beta-oxidation. CPT2 is predominantly expressed in tissues with high energy demands, such as the heart, skeletal muscle, and brain. The enzyme is composed of two subunits, CPT2A and CPT2B, which interact to facilitate the transfer of fatty acids. **Pathways and Functions:** CPT2 is involved in several key pathways, including: 1. **Fatty acid metabolism:** CPT2 regulates the transport of long-chain fatty acids into the mitochondria, where they undergo beta-oxidation to produce acetyl-CoA, which can be fed into the citric acid cycle or used for energy production. 2. **Acyltransferase activity:** CPT2 catalyzes the transfer of a palmitoyl group from CoA to carnitine, generating acyl-carnitine and releasing fatty acids into the mitochondrial inner membrane. 3. **Carnitine shuttle:** CPT2 plays a critical role in the carnitine shuttle, which facilitates the transport of acyl-carnitine from the cytosol into the mitochondria, where it can be converted back to CoA and fatty acids. 4. **Regulation of lipid metabolism:** CPT2 is regulated by various factors, including peroxisome proliferator-activated receptor alpha (PPARα), which activates gene expression and enhances fatty acid oxidation. **Clinical Significance:** Dysregulation of CPT2 has been implicated in various diseases, including: 1. **Fatty acid oxidation disorders:** Mutations in the CPT2 gene can lead to impaired fatty acid oxidation, resulting in metabolic crises and neurological dysfunction. 2. **Cardiovascular disease:** Elevated CPT2 activity has been linked to increased risk of cardiovascular disease, particularly in individuals with high triglyceride levels. 3. **Neurodegenerative diseases:** Alterations in CPT2 expression and function have been observed in neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. 4. **Cancer:** CPT2 has been implicated in cancer development and progression, with altered expression and activity observed in various tumor types. In conclusion, CPT2 is a critical enzyme involved in the regulation of fatty acid metabolism, and its dysregulation has significant implications for human health and disease. Further research is needed to fully understand the complex functions and regulation of CPT2 and its role in various physiological and pathological processes.

Genular Protein ID: 3740570257

Symbol: CPT2_HUMAN

Name: Carnitine palmitoyltransferase II

UniProtKB Accession Codes:

P23786 B2R6S0 Q5SW68 Q9BQ26

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 48 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EC 1 EMBL 12 Ensembl 1 ExpressionAtlas 1 GO 13 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 12 SMR 1 STRING 1 SUPFAM 1 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: 1988962

Title: cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase.

PubMed ID: 1988962

DOI: 10.1073/pnas.88.2.661

PubMed ID: 1961767

Title:

PubMed ID: 1961767

DOI: 10.1073/pnas.88.23.10981

PubMed ID: 7711730

Title: Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.

PubMed ID: 7711730

DOI: 10.1093/hmg/4.1.19

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: 2174799

Title: Purification, characterization and partial amino acid sequences of carnitine palmitoyl-transferase from human liver.

PubMed ID: 2174799

DOI: 10.1016/0014-5793(90)81354-q

PubMed ID: 20538056

Title: Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling.

PubMed ID: 20538056

DOI: 10.1016/j.bbadis.2010.06.002

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

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

DOI: 10.1002/pmic.201400617

PubMed ID: 1528846

Title: Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.

PubMed ID: 1528846

DOI: 10.1073/pnas.89.18.8429

PubMed ID: 8358442

Title: Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.

PubMed ID: 8358442

DOI: 10.1038/ng0793-314

PubMed ID: 8651281

Title: Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

PubMed ID: 8651281

PubMed ID: 9600456

Title: Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.

PubMed ID: 9600456

DOI: 10.1002/(sici)1098-1004(1998)11:5<377::aid-humu5>3.0.co;2-e

PubMed ID: 9758712

Title: Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.

PubMed ID: 9758712

DOI: 10.1006/mgme.1998.2711

PubMed ID: 10090476

Title: Novel mutations associated with carnitine palmitoyltransferase II deficiency.

PubMed ID: 10090476

DOI: 10.1002/(sici)1098-1004(1999)13:3<210::aid-humu5>3.0.co;2-0

PubMed ID: 11477613

Title: Antenatal presentation of carnitine palmitoyltransferase II deficiency.

PubMed ID: 11477613

DOI: 10.1002/ajmg.1457

PubMed ID: 14605500

Title: Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

PubMed ID: 14605500

DOI: 10.1023/a:1025947930752

PubMed ID: 14615409

Title: Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.

PubMed ID: 14615409

DOI: 10.1097/01.lab.0000098428.51765.83

PubMed ID: 15622536

Title: Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.

PubMed ID: 15622536

DOI: 10.1002/ana.20320

PubMed ID: 15811315

Title: Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.

PubMed ID: 15811315

DOI: 10.1016/j.febslet.2005.02.050

PubMed ID: 17488105

Title: Detection and validation of non-synonymous coding SNPs from orthogonal analysis of shotgun proteomics data.

PubMed ID: 17488105

DOI: 10.1021/pr0700908

PubMed ID: 18306170

Title: Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.

PubMed ID: 18306170

DOI: 10.1002/humu.20717

PubMed ID: 21697855

Title: Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.

PubMed ID: 21697855

DOI: 10.1038/jhg.2011.63

PubMed ID: 24780397

Title: Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency.

PubMed ID: 24780397

DOI: 10.1016/j.bbrc.2014.04.084

Sequence Information:

  • Length: 658
  • Mass: 73777
  • Checksum: 6444B75ACD57140F
  • Sequence:
    • MVPRLLLRAW PRGPAVGPGA PSRPLSAGSG PGQYLQRSIV PTMHYQDSLP RLPIPKLEDT 
IRRYLSAQKP LLNDGQFRKT EQFCKSFENG IGKELHEQLV ALDKQNKHTS YISGPWFDMY 
LSARDSVVLN FNPFMAFNPD PKSEYNDQLT RATNMTVSAI RFLKTLRAGL LEPEVFHLNP 
AKSDTITFKR LIRFVPSSLS WYGAYLVNAY PLDMSQYFRL FNSTRLPKPS RDELFTDDKA 
RHLLVLRKGN FYIFDVLDQD GNIVSPSEIQ AHLKYILSDS SPAPEFPLAY LTSENRDIWA 
ELRQKLMSSG NEESLRKVDS AVFCLCLDDF PIKDLVHLSH NMLHGDGTNR WFDKSFNLII 
AKDGSTAVHF EHSWGDGVAV LRFFNEVFKD STQTPAVTPQ SQPATTDSTV TVQKLNFELT 
DALKTGITAA KEKFDATMKT LTIDCVQFQR GGKEFLKKQK LSPDAVAQLA FQMAFLRQYG 
QTVATYESCS TAAFKHGRTE TIRPASVYTK RCSEAFVREP SRHSAGELQQ MMVECSKYHG 
QLTKEAAMGQ GFDRHLFALR HLAAAKGIIL PELYLDPAYG QINHNVLSTS TLSSPAVNLG 
GFAPVVSDGF GVGYAVHDNW IGCNVSSYPG RNAREFLQCV EKALEDMFDA LEGKSIKS

Genular Protein ID: 1419027865

Symbol: A0A1B0GTB8_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A1B0GTB8

Database IDs:

ARBA 23 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChEBI 44 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 6 Gene3D 4 GeneTree 1 HGNC 1 InterPro 5 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 1 PROSITE 2 PeptideAtlas 2 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 1 Rhea 12 RuleBase 1 SMR 1 SUPFAM 1 UniPathway 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16710414

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

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

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: 635
  • Mass: 71182
  • Checksum: 6EA1E31090044BF8
  • Sequence:
    • MVPRLLLRAW PRGPAVGPGA PSRPLSAGSG PGQYLQRSIV PTMHYQDSLP RLPIPKLEDT 
IRRYLSAQKP LLNDGQFRKT EQFCKSFENG IGKELHEQLV ALDKQNKHTS YISGPWFDMY 
LSARDSVVLN FNPFMAFNPD PKSEYNDQLT RATNMTVSAI RFLKTLRAGL LEPEVFHLNP 
AKSDTITFKR LIRFVPSSLS WYGAYLVNAY PLDMSQYFRL FNSTRLPKPS RDELFTDDKA 
RHLLVLRKGN FYIFDVLDQD GNIVSPSEIQ AHLKYILSDS SPAPEFPLAY LTSENRDIWA 
ELRQKLMSSG NEESLRKVDS AVFCLCLDDF PIKDLVHLSH NMLHGDGTNR WFDKSFNLII 
AKDGSTAVHF EHSWGDGVAV LRFFNEVFKD STQTPAVTPQ SQPATTDSTV TVQKLNFELT 
DALKTGITAA KEKFDATMKT LTIDCVQFQR GGKEFLKKQK LSPDAVAQLA FQMAFLRQYG 
QTVATYESCS TAAFKHGRTE TIRPASVYTK RCSEAFVREP SRHSAGQGFD RHLFALRHLA 
AAKGIILPEL YLDPAYGQIN HNVLSTSTLS SPAVNLGGFA PVVSDGFGVG YAVHDNWIGC 
NVSSYPGRNA REFLQCVEKA LEDMFDALEG KSIKS

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.