Q92523 (CPT1B_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 123.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Carnitine O-palmitoyltransferase 1, muscle isoform Short name=CPT1-M EC=2.3.1.21 Alternative name(s): Carnitine O-palmitoyltransferase I, muscle isoform Short name=CPT I Short name=CPTI-M Carnitine palmitoyltransferase 1B Carnitine palmitoyltransferase I-like protein | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 772 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Catalytic activity | Palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine. |
| Pathway | |
| Subcellular location | |
| Tissue specificity | Strong expression in heart and skeletal muscle. No expression in liver and kidney. |
| Miscellaneous | This protein is produced by a bicistronic gene which also produces the CHKB protein from a non-overlapping reading frame. |
| Sequence similarities | Belongs to the carnitine/choline acetyltransferase family. |
| Sequence caution | The sequence BAB33340.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Fatty acid metabolism Lipid metabolism Transport |
| Cellular component | Membrane Mitochondrion Mitochondrion outer membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transmembrane Transmembrane helix |
| Molecular function | Acyltransferase Transferase |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | carnitine shuttle Traceable author statement. Source: Reactome fatty acid beta-oxidationTraceable author statement PubMed 10408760. Source: ProtInc |
| Cellular_component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial outer membraneTraceable author statement. Source: Reactome |
| Molecular_function | carnitine O-palmitoyltransferase activity Traceable author statement PubMed 10408760. Source: ProtInc |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q92523-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q92523-2) The sequence of this isoform differs from the canonical sequence as follows: 581-581: D → G 582-772: Missing. | ||||||
| Isoform 3 (identifier: Q92523-3) The sequence of this isoform differs from the canonical sequence as follows: 154-187: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q92523-4) The sequence of this isoform differs from the canonical sequence as follows: 355-435: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 772 | 772 | Carnitine O-palmitoyltransferase 1, muscle isoform | PRO_0000210162 | |||||
Regions | |||||||||
| Topological domain | 1 – 47 | 47 | Cytoplasmic Potential | ||||||
| Transmembrane | 48 – 73 | 26 | Helical; Potential | ||||||
| Topological domain | 74 – 102 | 29 | Mitochondrial intermembrane Potential | ||||||
| Transmembrane | 103 – 122 | 20 | Helical; Potential | ||||||
| Topological domain | 123 – 772 | 650 | Cytoplasmic Potential | ||||||
| Region | 555 – 567 | 13 | Coenzyme A binding By similarity | ||||||
Sites | |||||||||
| Active site | 473 | 1 | Proton acceptor By similarity | ||||||
| Binding site | 589 | 1 | Carnitine By similarity | ||||||
| Binding site | 602 | 1 | Carnitine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 154 – 187 | 34 | Missing in isoform 3. | VSP_043184 | |||||
| Alternative sequence | 355 – 435 | 81 | Missing in isoform 4. | VSP_044451 | |||||
| Alternative sequence | 581 | 1 | D → G in isoform 2. | VSP_034246 | |||||
| Alternative sequence | 582 – 772 | 191 | Missing in isoform 2. | VSP_034247 | |||||
| Natural variant | 66 | 1 | I → V. Corresponds to variant rs3213445 [ dbSNP | Ensembl ]. | VAR_020029 | |||||
| Natural variant | 320 | 1 | G → D. Corresponds to variant rs2269383 [ dbSNP | Ensembl ]. | VAR_021854 | |||||
| Natural variant | 427 | 1 | S → C. Corresponds to variant rs8142477 [ dbSNP | Ensembl ]. | VAR_024188 | |||||
| Natural variant | 531 | 1 | E → K. Ref.6 Ref.7 Corresponds to variant rs470117 [ dbSNP | Ensembl ]. | VAR_011739 | |||||
| Natural variant | 664 | 1 | S → Y. Corresponds to variant rs1804702 [ dbSNP | Ensembl ]. | VAR_011740 | |||||
Experimental info | |||||||||
| Sequence conflict | 75 | 1 | C → S in BAH13024. Ref.7 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Isolation and characterization of cDNA and genomic clones encoding human muscle type carnitine palmitoyltransferase I." Yamazaki N., Shinohara Y., Shima A., Yamanaka Y., Terada H. Biochim. Biophys. Acta 1307:157-161(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Heart. |
| [2] | "Functional studies of yeast-expressed human heart muscle carnitine palmitoyltransferase I." Zhu H., Shi J., de Vries Y., Arvidson D.N., Cregg J.M., Woldegiorgis G. Arch. Biochem. Biophys. 347:53-61(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [3] | "Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B)." Britton C.H., Mackey D.W., Esser V., Foster D.W., Burns D.K., Yarnall D.P., Froguel P., McGarry J.D. Genomics 40:209-211(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Heart. |
| [4] | "Localization and intron usage analysis of the human CPT1B gene for muscle type carnitine palmitoyltransferase I." van der Leij F.R., Takens J., van der Veen A.Y., Terpstra P., Kuipers J.R.G. Biochim. Biophys. Acta 1352:123-128(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Skeletal muscle. |
| [5] | "Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I." Yamazaki N., Yamanaka Y., Hashimoto Y., Shinohara Y., Shima A., Terada H. FEBS Lett. 409:401-406(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1). |
| [6] | "Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping." Hirosawa M., Nagase T., Murahashi Y., Kikuno R., Ohara O. DNA Res. 8:1-9(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT LYS-531. |
| [7] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4), VARIANT LYS-531. Tissue: Heart and Tongue. |
| [8] | "The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. Wright H.Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | D87812 mRNA. Translation: BAA13461.1. U66828 mRNA. Translation: AAB40651.1. U62733 mRNA. Translation: AAC51122.1. Y08682 mRNA. Translation: CAA69938.1. Y08683 mRNA. Translation: CAA69939.1. AB003286 Genomic DNA. Translation: BAA21492.1. AB051457 mRNA. Translation: BAB33340.1. Different initiation. AK297866 mRNA. Translation: BAH12680.1. AK299395 mRNA. Translation: BAH13024.1. U62317 Genomic DNA. Translation: AAB03343.1. |
| IPI | IPI00640400. IPI00877658. IPI00921936. IPI00922376. |
| PIR | G02860. |
| RefSeq | NP_001138606.1. NM_001145134.1. NP_001138607.1. NM_001145135.1. NP_001138608.1. NM_001145136.1. NP_001138609.1. NM_001145137.1. NP_004368.1. NM_004377.3. NP_689451.1. NM_152245.2. NP_689452.1. NM_152246.2. |
| UniGene | Hs.439777. Hs.609867. |
3D structure databases | |
| ProteinModelPortal | Q92523. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000312189. |
PTM databases | |
| PhosphoSite | Q92523. |
Polymorphism databases | |
| DMDM | 2493497. |
Proteomic databases | |
| PaxDb | Q92523. |
| PRIDE | Q92523. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000312108; ENSP00000312189; ENSG00000205560. ENST00000360719; ENSP00000353945; ENSG00000205560. ENST00000395650; ENSP00000379011; ENSG00000205560. ENST00000405237; ENSP00000385486; ENSG00000205560. ENST00000440709; ENSP00000414713; ENSG00000205560. ENST00000457250; ENSP00000409342; ENSG00000205560. |
| GeneID | 1375. |
| KEGG | hsa:1375. |
| UCSC | uc003bmk.4. human. uc011asa.2. human. uc011asb.2. human. |
Organism-specific databases | |
| CTD | 1375. |
| GeneCards | GC22M051008. |
| HGNC | HGNC:2329. CPT1B. |
| HPA | HPA029583. |
| MIM | 601987. gene. |
| neXtProt | NX_Q92523. |
| PharmGKB | PA26848. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG70127. |
| HOGENOM | HOG000233542. |
| HOVERGEN | HBG003458. |
| InParanoid | Q92523. |
| KO | K08765. |
| OMA | RDRGKFC. |
| OrthoDB | EOG4TXBR8. |
| PhylomeDB | Q92523. |
Enzyme and pathway databases | |
| BRENDA | 2.3.1.21. 2681. |
| Pathway_Interaction_DB | hnf3bpathway. FOXA2 and FOXA3 transcription factor networks. |
| Reactome | REACT_111217. Metabolism. REACT_11163. Activated AMPK stimulates fatty-acid oxidation in muscle. |
| SABIO-RK | Q92523. |
| UniPathway | UPA00659. |
Gene expression databases | |
| ArrayExpress | Q92523. |
| Bgee | Q92523. |
| CleanEx | HS_CPT1B. |
| Genevestigator | Q92523. |
| GermOnline | ENSG00000100288. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000542. Carn_acyl_trans. [Graphical view] |
| PANTHER | PTHR22589. PTHR22589. 1 hit. |
| Pfam | PF00755. Carn_acyltransf. 1 hit. [Graphical view] |
| PROSITE | PS00439. ACYLTRANSF_C_1. 1 hit. PS00440. ACYLTRANSF_C_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | CPT1B. human. |
| GenomeRNAi | 1375. |
| NextBio | 5575. |
| SOURCE | Search... |
Entry information
| Entry name | CPT1B_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q92523 Secondary accession number(s): B7Z4U4 Q9BY90 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 22 Human chromosome 22: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with
