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Q8TCG5

- CPT1C_HUMAN

UniProt

Q8TCG5 - CPT1C_HUMAN

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Protein

Carnitine O-palmitoyltransferase 1, brain isoform

Gene
CPT1C, CATL1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Catalytic activityi

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

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei470 – 4701Proton acceptor By similarity
Binding sitei586 – 5861Carnitine By similarity
Binding sitei588 – 5881Carnitine By similarity
Binding sitei589 – 5891Coenzyme A By similarity
Binding sitei599 – 5991Carnitine By 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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 5252Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei53 – 7523Helical; Reviewed predictionAdd
BLAST
Topological domaini76 – 10328Mitochondrial intermembrane Reviewed predictionAdd
BLAST
Transmembranei104 – 12623Helical; Reviewed predictionAdd
BLAST
Topological domaini127 – 803677Cytoplasmic Reviewed predictionAdd
BLAST

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
Complete GO annotation...

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.

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.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni552 – 56413Coenzyme A binding By 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.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei258 – 26811Missing in isoform 2. VSP_010677Add
BLAST
Alternative sequencei623 – 71189Missing in isoform 3. VSP_012457Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti58 – 581S → G in BAF82402. 1 Publication
Sequence conflicti375 – 3784HEEH → RTRG in CAD38561. 1 Publication
Sequence conflicti542 – 5421D → G in BAB85068. 1 Publication

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]
ENST00000354199; ENSP00000346138; ENSG00000169169. [Q8TCG5-3]
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 ]
ENST00000354199 ; ENSP00000346138 ; ENSG00000169169 . [Q8TCG5-3 ]
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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 106 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

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