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Q8TCG5

- CPT1C_HUMAN

UniProt

Q8TCG5 - CPT1C_HUMAN

Protein

Carnitine O-palmitoyltransferase 1, brain isoform

Gene

CPT1C

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 107 (01 Oct 2014)
      Sequence version 1 (01 Jun 2002)
      Previous versions | rss
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    Functioni

    Catalytic activityi

    Palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine.

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei470 – 4701Proton acceptorBy similarity
    Binding sitei586 – 5861CarnitineBy similarity
    Binding sitei588 – 5881CarnitineBy similarity
    Binding sitei589 – 5891Coenzyme ABy similarity
    Binding sitei599 – 5991CarnitineBy similarity

    GO - Molecular functioni

    1. carnitine O-palmitoyltransferase activity Source: UniProtKB-EC

    GO - Biological processi

    1. carnitine metabolic process Source: Ensembl
    2. fatty acid beta-oxidation Source: UniProtKB-UniPathway

    Keywords - Molecular functioni

    Acyltransferase, Transferase

    Keywords - Biological processi

    Fatty acid metabolism, Lipid metabolism

    Enzyme and pathway databases

    BioCyciMetaCyc:HS09892-MONOMER.
    UniPathwayiUPA00659.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Carnitine O-palmitoyltransferase 1, brain isoform (EC:2.3.1.21)
    Short name:
    CPT1-B
    Alternative name(s):
    CPT IC
    Carnitine O-palmitoyltransferase I, brain isoform
    Short name:
    CPTI-B
    Carnitine palmitoyltransferase 1C
    Gene namesi
    Name:CPT1C
    Synonyms:CATL1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:18540. CPT1C.

    Subcellular locationi

    Mitochondrion outer membrane By similarity; Multi-pass membrane protein By similarity. Cell junctionsynapse By similarity

    GO - Cellular componenti

    1. alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex Source: Ensembl
    2. cell junction Source: UniProtKB-KW
    3. endoplasmic reticulum membrane Source: Ensembl
    4. mitochondrial outer membrane Source: UniProtKB-SubCell
    5. synapse Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell junction, Membrane, Mitochondrion, Mitochondrion outer membrane, Synapse

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134922321.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 803803Carnitine O-palmitoyltransferase 1, brain isoformPRO_0000210166Add
    BLAST

    Proteomic databases

    PaxDbiQ8TCG5.
    PRIDEiQ8TCG5.

    PTM databases

    PhosphoSiteiQ8TCG5.

    Expressioni

    Tissue specificityi

    Expressed predominantly in brain and testis.1 Publication

    Gene expression databases

    ArrayExpressiQ8TCG5.
    BgeeiQ8TCG5.
    CleanExiHS_CPT1C.
    GenevestigatoriQ8TCG5.

    Organism-specific databases

    HPAiHPA014529.

    Interactioni

    Subunit structurei

    Peripherally associated with AMPAR complex. AMPAR complex consists of an inner core made of 4 pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents, including CPT1C. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing By similarity.By similarity

    Protein-protein interaction databases

    BioGridi125958. 1 interaction.
    MINTiMINT-6631074.
    STRINGi9606.ENSP00000319343.

    Structurei

    Secondary structure

    1
    803
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Turni13 – 153
    Helixi25 – 4824

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2M76NMR-A1-50[»]
    ProteinModelPortaliQ8TCG5.
    SMRiQ8TCG5. Positions 1-50, 180-764.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 5252CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini76 – 10328Mitochondrial intermembraneSequence AnalysisAdd
    BLAST
    Topological domaini127 – 803677CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei53 – 7523HelicalSequence AnalysisAdd
    BLAST
    Transmembranei104 – 12623HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni552 – 56413Coenzyme A bindingBy similarityAdd
    BLAST

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG272759.
    HOGENOMiHOG000233542.
    HOVERGENiHBG003458.
    InParanoidiQ8TCG5.
    KOiK08765.
    OMAiIDCHVFP.
    OrthoDBiEOG7J17ZQ.
    PhylomeDBiQ8TCG5.
    TreeFamiTF313836.

    Family and domain databases

    InterProiIPR000542. Carn_acyl_trans.
    [Graphical view]
    PANTHERiPTHR22589. PTHR22589. 1 hit.
    PfamiPF00755. Carn_acyltransf. 1 hit.
    [Graphical view]
    PROSITEiPS00439. ACYLTRANSF_C_1. 1 hit.
    PS00440. ACYLTRANSF_C_2. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8TCG5-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MAEAHQAVGF RPSLTSDGAE VELSAPVLQE IYLSGLRSWK RHLSRFWNDF    50
    LTGVFPASPL SWLFLFSAIQ LAWFLQLDPS LGLMEKIKEL LPDWGGQHHG 100
    LRGVLAAALF ASCLWGALIF TLHVALRLLL SYHGWLLEPH GAMSSPTKTW 150
    LALVRIFSGR HPMLFSYQRS LPRQPVPSVQ DTVRKYLESV RPILSDEDFD 200
    WTAVLAQEFL RLQASLLQWY LRLKSWWASN YVSDWWEEFV YLRSRNPLMV 250
    NSNYYMMDFL YVTPTPLQAA RAGNAVHALL LYRHRLNRQE IPPTLLMGMR 300
    PLCSAQYEKI FNTTRIPGVQ KDYIRHLHDS QHVAVFHRGR FFRMGTHSRN 350
    SLLSPRALEQ QFQRILDDPS PACPHEEHLA ALTAAPRGTW AQVRTSLKTQ 400
    AAEALEAVEG AAFFVSLDAE PAGLTREDPA ASLDAYAHAL LAGRGHDRWF 450
    DKSFTLIVFS NGKLGLSVEH SWADCPISGH MWEFTLATEC FQLGYSTDGH 500
    CKGHPDPTLP QPQRLQWDLP DQIHSSISLA LRGAKILSEN VDCHVVPFSL 550
    FGKSFIRRCH LSSDSFIQIA LQLAHFRDRG QFCLTYESAM TRLFLEGRTE 600
    TVRSCTREAC NFVRAMEDKE KTDPQCLALF RVAVDKHQAL LKAAMSGQGV 650
    DRHLFALYIV SRFLHLQSPF LTQVHSEQWQ LSTSQIPVQQ MHLFDVHNYP 700
    DYVSSGGGFG PADDHGYGVS YIFMGDGMIT FHISSKKSST KTDSHRLGQH 750
    IEDALLDVAS LFQAGQHFKR RFRGSGKENS RHRCGFLSRQ TGASKASMTS 800
    TDF 803
    Length:803
    Mass (Da):90,989
    Last modified:June 1, 2002 - v1
    Checksum:i96C2AE6ED0DEC705
    GO
    Isoform 2 (identifier: Q8TCG5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         258-268: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:792
    Mass (Da):89,713
    Checksum:i3420B3FE0457E895
    GO
    Isoform 3 (identifier: Q8TCG5-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         623-711: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:714
    Mass (Da):81,000
    Checksum:i4435ECAA8502D6BA
    GO

    Sequence cautioni

    The sequence BAB85068.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence CAD38561.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti58 – 581S → G in BAF82402. (PubMed:14702039)Curated
    Sequence conflicti375 – 3784HEEH → RTRG in CAD38561. (PubMed:17974005)Curated
    Sequence conflicti542 – 5421D → G in BAB85068. (PubMed:14702039)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei258 – 26811Missing in isoform 2. 1 PublicationVSP_010677Add
    BLAST
    Alternative sequencei623 – 71189Missing in isoform 3. 1 PublicationVSP_012457Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF357970 mRNA. Translation: AAL99615.1.
    AF331918 Genomic DNA. Translation: AAQ14875.1.
    AK074389 mRNA. Translation: BAB85068.1. Different initiation.
    AK289713 mRNA. Translation: BAF82402.1.
    AK290092 mRNA. Translation: BAF82781.1.
    CH471177 Genomic DNA. Translation: EAW52524.1.
    BC029104 mRNA. Translation: AAH29104.1.
    AL831876 mRNA. Translation: CAD38561.2. Different initiation.
    CCDSiCCDS12779.1. [Q8TCG5-1]
    CCDS46147.1. [Q8TCG5-2]
    RefSeqiNP_001129524.1. NM_001136052.2. [Q8TCG5-2]
    NP_001186681.1. NM_001199752.2. [Q8TCG5-1]
    NP_001186682.1. NM_001199753.1. [Q8TCG5-1]
    NP_689572.1. NM_152359.2. [Q8TCG5-1]
    XP_005258562.1. XM_005258505.2. [Q8TCG5-1]
    XP_005258563.1. XM_005258506.2. [Q8TCG5-1]
    UniGeneiHs.112195.

    Genome annotation databases

    EnsembliENST00000323446; ENSP00000319343; ENSG00000169169. [Q8TCG5-1]
    ENST00000392518; ENSP00000376303; ENSG00000169169. [Q8TCG5-1]
    ENST00000405931; ENSP00000384465; ENSG00000169169. [Q8TCG5-2]
    ENST00000598293; ENSP00000473028; ENSG00000169169. [Q8TCG5-1]
    GeneIDi126129.
    KEGGihsa:126129.
    UCSCiuc002ppi.3. human. [Q8TCG5-1]
    uc002ppk.3. human. [Q8TCG5-2]
    uc010eni.1. human. [Q8TCG5-3]

    Polymorphism databases

    DMDMi57013809.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF357970 mRNA. Translation: AAL99615.1 .
    AF331918 Genomic DNA. Translation: AAQ14875.1 .
    AK074389 mRNA. Translation: BAB85068.1 . Different initiation.
    AK289713 mRNA. Translation: BAF82402.1 .
    AK290092 mRNA. Translation: BAF82781.1 .
    CH471177 Genomic DNA. Translation: EAW52524.1 .
    BC029104 mRNA. Translation: AAH29104.1 .
    AL831876 mRNA. Translation: CAD38561.2 . Different initiation.
    CCDSi CCDS12779.1. [Q8TCG5-1 ]
    CCDS46147.1. [Q8TCG5-2 ]
    RefSeqi NP_001129524.1. NM_001136052.2. [Q8TCG5-2 ]
    NP_001186681.1. NM_001199752.2. [Q8TCG5-1 ]
    NP_001186682.1. NM_001199753.1. [Q8TCG5-1 ]
    NP_689572.1. NM_152359.2. [Q8TCG5-1 ]
    XP_005258562.1. XM_005258505.2. [Q8TCG5-1 ]
    XP_005258563.1. XM_005258506.2. [Q8TCG5-1 ]
    UniGenei Hs.112195.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2M76 NMR - A 1-50 [» ]
    ProteinModelPortali Q8TCG5.
    SMRi Q8TCG5. Positions 1-50, 180-764.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125958. 1 interaction.
    MINTi MINT-6631074.
    STRINGi 9606.ENSP00000319343.

    PTM databases

    PhosphoSitei Q8TCG5.

    Polymorphism databases

    DMDMi 57013809.

    Proteomic databases

    PaxDbi Q8TCG5.
    PRIDEi Q8TCG5.

    Protocols and materials databases

    DNASUi 126129.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000323446 ; ENSP00000319343 ; ENSG00000169169 . [Q8TCG5-1 ]
    ENST00000392518 ; ENSP00000376303 ; ENSG00000169169 . [Q8TCG5-1 ]
    ENST00000405931 ; ENSP00000384465 ; ENSG00000169169 . [Q8TCG5-2 ]
    ENST00000598293 ; ENSP00000473028 ; ENSG00000169169 . [Q8TCG5-1 ]
    GeneIDi 126129.
    KEGGi hsa:126129.
    UCSCi uc002ppi.3. human. [Q8TCG5-1 ]
    uc002ppk.3. human. [Q8TCG5-2 ]
    uc010eni.1. human. [Q8TCG5-3 ]

    Organism-specific databases

    CTDi 126129.
    GeneCardsi GC19P050199.
    HGNCi HGNC:18540. CPT1C.
    HPAi HPA014529.
    MIMi 608846. gene.
    neXtProti NX_Q8TCG5.
    PharmGKBi PA134922321.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG272759.
    HOGENOMi HOG000233542.
    HOVERGENi HBG003458.
    InParanoidi Q8TCG5.
    KOi K08765.
    OMAi IDCHVFP.
    OrthoDBi EOG7J17ZQ.
    PhylomeDBi Q8TCG5.
    TreeFami TF313836.

    Enzyme and pathway databases

    UniPathwayi UPA00659 .
    BioCyci MetaCyc:HS09892-MONOMER.

    Miscellaneous databases

    GenomeRNAii 126129.
    NextBioi 81696.
    PROi Q8TCG5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8TCG5.
    Bgeei Q8TCG5.
    CleanExi HS_CPT1C.
    Genevestigatori Q8TCG5.

    Family and domain databases

    InterProi IPR000542. Carn_acyl_trans.
    [Graphical view ]
    PANTHERi PTHR22589. PTHR22589. 1 hit.
    Pfami PF00755. Carn_acyltransf. 1 hit.
    [Graphical view ]
    PROSITEi PS00439. ACYLTRANSF_C_1. 1 hit.
    PS00440. ACYLTRANSF_C_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel brain-expressed protein related to carnitine palmitoyltransferase I."
      Price N., van der Leij F.R., Jackson V., Corstorphine C., Thomson R., Sorensen A., Zammit V.
      Genomics 80:433-442(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
      Tissue: Eye.
    2. "Molecular characterization, chromosomal localization and expression analysis of a gene, CATL1, encoding for a new member of the human carnitine acyltransferase family."
      Scorilas A., Katsaros N.
      Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "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.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain, Kidney epithelium and Subthalamic nucleus.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Eye.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 375-803 (ISOFORM 3).
      Tissue: Brain.

    Entry informationi

    Entry nameiCPT1C_HUMAN
    AccessioniPrimary (citable) accession number: Q8TCG5
    Secondary accession number(s): A8K0Z8
    , Q5K6N5, Q8N6Q9, Q8NDS6, Q8TE84
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 5, 2004
    Last sequence update: June 1, 2002
    Last modified: October 1, 2014
    This is version 107 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    4. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3