Details for: CPT1A

Gene ID: 1374

Symbol: CPT1A

Ensembl ID: ENSG00000110090

Description: carnitine palmitoyltransferase 1A

Associated with

Cells (max top 100)

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

  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 2.28
    Marker Score: 2622
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.78
    Marker Score: 38042
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.77
    Marker Score: 5792
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.59
    Marker Score: 836
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.51
    Marker Score: 901
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.45
    Marker Score: 1759
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.43
    Marker Score: 9167
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.41
    Marker Score: 14565
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.33
    Marker Score: 7170
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.31
    Marker Score: 5652
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.29
    Marker Score: 749
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.26
    Marker Score: 3372
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.26
    Marker Score: 3944
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.25
    Marker Score: 19493
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.25
    Marker Score: 2934
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 1.22
    Marker Score: 3007.5
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.19
    Marker Score: 26613
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.17
    Marker Score: 1947
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.15
    Marker Score: 432
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.14
    Marker Score: 5473
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 1.14
    Marker Score: 822
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.13
    Marker Score: 1082
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.09
    Marker Score: 1083
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.07
    Marker Score: 1132
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.05
    Marker Score: 2024.5
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.04
    Marker Score: 1052
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.04
    Marker Score: 434
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.02
    Marker Score: 2582
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.01
    Marker Score: 688
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 1.01
    Marker Score: 253
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.01
    Marker Score: 4182
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.01
    Marker Score: 926
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71687
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47910
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.99
    Marker Score: 320
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.99
    Marker Score: 1066
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 0.99
    Marker Score: 1433
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30389
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.97
    Marker Score: 1042
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.97
    Marker Score: 2207
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.97
    Marker Score: 746
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.95
    Marker Score: 305
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.95
    Marker Score: 354
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2395
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.94
    Marker Score: 294
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 480
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.93
    Marker Score: 5508
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.93
    Marker Score: 557
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.93
    Marker Score: 10759
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 436
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.92
    Marker Score: 251
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.92
    Marker Score: 1107
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.92
    Marker Score: 1297
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5208
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.91
    Marker Score: 225
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.9
    Marker Score: 1468
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2698
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.89
    Marker Score: 1817
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.88
    Marker Score: 517
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5293
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.87
    Marker Score: 456
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.86
    Marker Score: 893
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 309
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.85
    Marker Score: 315
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.83
    Marker Score: 1042
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.83
    Marker Score: 199
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.82
    Marker Score: 1954
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.82
    Marker Score: 408
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.82
    Marker Score: 243.5
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.81
    Marker Score: 620
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 0.81
    Marker Score: 1618
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.81
    Marker Score: 532
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.81
    Marker Score: 274
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.8
    Marker Score: 694
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.8
    Marker Score: 544.5
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.8
    Marker Score: 193
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.78
    Marker Score: 4703
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.78
    Marker Score: 4992
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.78
    Marker Score: 311
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.77
    Marker Score: 518
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.77
    Marker Score: 812
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 0.77
    Marker Score: 331
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.77
    Marker Score: 954
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.76
    Marker Score: 816
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.76
    Marker Score: 483
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.76
    Marker Score: 1006
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.76
    Marker Score: 653
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.75
    Marker Score: 360
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.75
    Marker Score: 238
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.75
    Marker Score: 509
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.74
    Marker Score: 189
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.74
    Marker Score: 258
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.73
    Marker Score: 1124
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.73
    Marker Score: 740
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 375
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 0.72
    Marker Score: 694
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.72
    Marker Score: 648
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 460
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.72
    Marker Score: 2547
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.72
    Marker Score: 292

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Other Information

**Key characteristics:** - The CPT1A gene is located on chromosome 15q26.1. - It is a single-exon gene with a size of approximately 1.5 kb. - The protein encoded by CPT1A is a transmembrane protein with a molecular weight of approximately 150 kDa. **Pathways and functions:** - CPT1A is involved in the carnitine metabolism pathway, a crucial process for energy production in the mitochondria of cells. - It catalyzes the transfer of a palmitoyl group from carnitine to a variety of molecules, including malate, aspartate, and oxaloacetate. - These metabolites can be used as an alternative energy source by the mitochondria. - CPT1A also plays a role in the regulation of lipid metabolism, as it is involved in the synthesis of fatty acids from acetyl-CoA. - Additionally, it is involved in the regulation of glucose metabolism and the response to hypoxia. **Clinical significance:** - Mutations in the CPT1A gene have been linked to several human diseases, including heart failure, stroke, and diabetes. - Carnitine deficiency is associated with mitochondrial dysfunction and oxidative stress, which are implicated in these diseases. - Therefore, targeting CPT1A has emerged as a potential therapeutic strategy for these conditions. **Additional notes:** - CPT1A is a highly expressed protein in various cell types, particularly in tissues where energy production is important, such as the liver and kidney. - The expression of CPT1A is regulated by various hormones, including pparalpha, Rora, and retinoic acid. - CPT1A is a promising target for the treatment of metabolic disorders and diseases characterized by mitochondrial dysfunction.

Genular Protein ID: 4289844490

Symbol: CPT1A_HUMAN

Name: Carnitine O-palmitoyltransferase 1, liver isoform

UniProtKB Accession Codes:

P50416 Q8TCU0 Q9BWK0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEBI 7 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 DrugCentral 1 EC 1 EMBL 5 EPD 1 Ensembl 4 ExpressionAtlas 1 GO 27 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 4 RefSeq 3 Rhea 2 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7892212

Title: Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene.

PubMed ID: 7892212

DOI: 10.1073/pnas.92.6.1984

PubMed ID: 12189492

Title: Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.

PubMed ID: 12189492

DOI: 10.1007/s00439-002-0752-0

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: 16651524

Title: The brain-specific carnitine palmitoyltransferase-1c regulates energy homeostasis.

PubMed ID: 16651524

DOI: 10.1073/pnas.0602205103

PubMed ID: 16271724

Title: An intronic peroxisome proliferator-activated receptor-binding sequence mediates fatty acid induction of the human carnitine palmitoyltransferase 1A.

PubMed ID: 16271724

DOI: 10.1016/j.jmb.2005.09.097

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 14711372

Title: Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal.

PubMed ID: 14711372

DOI: 10.1042/bj20031373

PubMed ID: 21990363

Title: An environment-dependent structural switch underlies the regulation of carnitine palmitoyltransferase 1A.

PubMed ID: 21990363

DOI: 10.1074/jbc.m111.306951

PubMed ID: 9691089

Title: Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.

PubMed ID: 9691089

DOI: 10.1172/jci2927

PubMed ID: 11441142

Title: Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.

PubMed ID: 11441142

PubMed ID: 11350182

Title: Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.

PubMed ID: 11350182

DOI: 10.1006/mgme.2001.3176

PubMed ID: 12111367

Title: Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.

PubMed ID: 12111367

DOI: 10.1007/s100380200047

PubMed ID: 14517221

Title: Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.

PubMed ID: 14517221

DOI: 10.1074/jbc.m310130200

PubMed ID: 15669684

Title: Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.

PubMed ID: 15669684

DOI: 10.1023/b:boli.0000042979.42120.55

PubMed ID: 15110323

Title: Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.

PubMed ID: 15110323

DOI: 10.1016/j.ymgme.2004.02.004

Sequence Information:

  • Length: 773
  • Mass: 88368
  • Checksum: E5DC9141B6301947
  • Sequence:
    • MAEAHQAVAF QFTVTPDGID LRLSHEALRQ IYLSGLHSWK KKFIRFKNGI ITGVYPASPS 
SWLIVVVGVM TTMYAKIDPS LGIIAKINRT LETANCMSSQ TKNVVSGVLF GTGLWVALIV 
TMRYSLKVLL SYHGWMFTEH GKMSRATKIW MGMVKIFSGR KPMLYSFQTS LPRLPVPAVK 
DTVNRYLQSV RPLMKEEDFK RMTALAQDFA VGLGPRLQWY LKLKSWWATN YVSDWWEEYI 
YLRGRGPLMV NSNYYAMDLL YILPTHIQAA RAGNAIHAIL LYRRKLDREE IKPIRLLGST 
IPLCSAQWER MFNTSRIPGE ETDTIQHMRD SKHIVVYHRG RYFKVWLYHD GRLLKPREME 
QQMQRILDNT SEPQPGEARL AALTAGDRVP WARCRQAYFG RGKNKQSLDA VEKAAFFVTL 
DETEEGYRSE DPDTSMDSYA KSLLHGRCYD RWFDKSFTFV VFKNGKMGLN AEHSWADAPI 
VAHLWEYVMS IDSLQLGYAE DGHCKGDINP NIPYPTRLQW DIPGECQEVI ETSLNTANLL 
ANDVDFHSFP FVAFGKGIIK KCRTSPDAFV QLALQLAHYK DMGKFCLTYE ASMTRLFREG 
RTETVRSCTT ESCDFVRAMV DPAQTVEQRL KLFKLASEKH QHMYRLAMTG SGIDRHLFCL 
YVVSKYLAVE SPFLKEVLSE PWRLSTSQTP QQQVELFDLE NNPEYVSSGG GFGPVADDGY 
GVSYILVGEN LINFHISSKF SCPETDSHRF GRHLKEAMTD IITLFGLSSN SKK

Genular Protein ID: 1016564899

Symbol: B2RAQ8_HUMAN

Name: N/A

UniProtKB Accession Codes:

B2RAQ8

Database IDs:

ARBA 13 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 2 GO 3 Gene3D 3 Genevisible 1 GenomeRNAi 1 InterPro 5 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 1 PROSITE 2 PeptideAtlas 1 Pfam 4 PharmGKB 1 RefSeq 1 RuleBase 1 SAM 1 SUPFAM 1 UniPathway 1

Sequence Information:

  • Length: 773
  • Mass: 88340
  • Checksum: 90F7C3F49D627383
  • Sequence:
    • MAEAHQAVAF QFTVTPDGID LRLSHEALRQ IYLSGLHSWK KKFIRFKNGI ITGVYPASPS 
SWLIVVVGVM TTMYAKIDPS LGIIAKINRT LETANCMSSQ TKNVVSGVLF GTGLWVALIV 
TMRYSLKVLL SYHGWMFTEH GKMSRATKIW MGMVKIFSGR KPMLYSFQTS LPRLPVPAVK 
DTVNRYLQSV RPLMKEEDFK RMTALAQDFA VGLGPRLQWY LKLKSWWATN YVSDWWEEYI 
YLRGRGPLMV NSNYYAMDLL YILPTHIQAA RAGNAIHAIL LYRRKLDQEE IKPIRLLGST 
IPLCSAQWER MFNTSRIPGE ETDTIQHMRD SKHIVVYHRG RYFKVWLYHD GRLLKPREME 
QQMQRILDNT SEPQPGEARL AALTAGDRVP WARCRQAYFG RGKNKQSLDA VEKAAFFVTL 
DETEEGYRSE DPDTSMDSYA KSLLHGRCYD RWFDKSFTFV VFKNGKMGLN AEHSWADAPI 
VAHLWEYVMS IDSLQLGYAE DGHCKGDINP NIPYPTRLQW DIPGECQEVI ETSLNTANLL 
ANDVDFHSFP FVAFGKGIIK KCRTSPDAFV QLALQLAHYK DMGKFCLTYE ASMTRLFREG 
RTETVRSCTT ESCDFVRAMV DPAQTVEQRL KLFKLASEKH QHMYRLAMTG SGIDRHLFCL 
YVVSKYLAVE SPFLKEVLSE PWRLSTSQTP QQQVELFDLE NNPEYVSSGG GFGPVADDGY 
GVSYILVGEN LINFHISSKF SCPETDSHRF GRHLKEAMTD IITLFGLSSN SKK

Genular Protein ID: 91059581

Symbol: Q8WZ48_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q8WZ48

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 2 GO 1 Genevisible 1 GenomeRNAi 1 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PeptideAtlas 1 PharmGKB 1 RefSeq 1

Sequence Information:

  • Length: 28
  • Mass: 3190
  • Checksum: 5CBBD9F207F78D3D
  • Sequence:
    • DSHRFGRHLK EAMTDIITLF GLSSNSKK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.