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Protein

Carnitine O-palmitoyltransferase 1, muscle isoform

Gene

CPT1B

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

Functioni

Catalytic activityi

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

Pathwayi: fatty acid beta-oxidation

This protein is involved in the pathway fatty acid beta-oxidation, which is part of Lipid metabolism.
View all proteins of this organism that are known to be involved in the pathway fatty acid beta-oxidation and in Lipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei473Proton acceptorBy similarity1
Binding sitei589CarnitineBy similarity1
Binding sitei602CarnitineBy similarity1

GO - Molecular functioni

GO - Biological processi

  • carnitine shuttle Source: Reactome
  • fatty acid beta-oxidation Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Acyltransferase, Transferase

Keywords - Biological processi

Fatty acid metabolism, Lipid metabolism, Transport

Enzyme and pathway databases

BioCyciMetaCyc:MONOMER66-34409.
ZFISH:MONOMER66-34409.
BRENDAi2.3.1.21. 2681.
ReactomeiR-HSA-200425. Import of palmitoyl-CoA into the mitochondrial matrix.
R-HSA-5362517. Signaling by Retinoic Acid.
SABIO-RKQ92523.
UniPathwayiUPA00659.

Chemistry databases

SwissLipidsiSLP:000001052.

Names & Taxonomyi

Protein namesi
Recommended name:
Carnitine O-palmitoyltransferase 1, muscle isoform (EC:2.3.1.21)
Short name:
CPT1-M
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 namesi
Name:CPT1B
Synonyms:KIAA1670
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:2329. CPT1B.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 47CytoplasmicSequence analysisAdd BLAST47
Transmembranei48 – 73HelicalSequence analysisAdd BLAST26
Topological domaini74 – 102Mitochondrial intermembraneSequence analysisAdd BLAST29
Transmembranei103 – 122HelicalSequence analysisAdd BLAST20
Topological domaini123 – 772CytoplasmicSequence analysisAdd BLAST650

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • mitochondrial outer membrane Source: Reactome
  • mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion outer membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi1375.
OpenTargetsiENSG00000205560.
PharmGKBiPA26848.

Chemistry databases

ChEMBLiCHEMBL2216739.

Polymorphism and mutation databases

BioMutaiCPT1B.
DMDMi2493497.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002101621 – 772Carnitine O-palmitoyltransferase 1, muscle isoformAdd BLAST772

Proteomic databases

EPDiQ92523.
MaxQBiQ92523.
PaxDbiQ92523.
PeptideAtlasiQ92523.
PRIDEiQ92523.

PTM databases

iPTMnetiQ92523.
PhosphoSitePlusiQ92523.

Expressioni

Tissue specificityi

Strong expression in heart and skeletal muscle. No expression in liver and kidney.

Gene expression databases

BgeeiENSG00000205560.
CleanExiHS_CPT1B.
ExpressionAtlasiQ92523. baseline and differential.
GenevisibleiQ92523. HS.

Organism-specific databases

HPAiHPA029583.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
C2orf57Q53QW15EBI-10278486,EBI-10278496

Protein-protein interaction databases

BioGridi107766. 2 interactors.
IntActiQ92523. 1 interactor.
STRINGi9606.ENSP00000312189.

Chemistry databases

BindingDBiQ92523.

Structurei

3D structure databases

ProteinModelPortaliQ92523.
SMRiQ92523.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni555 – 567Coenzyme A bindingBy similarityAdd BLAST13

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3717. Eukaryota.
ENOG410XNZ9. LUCA.
GeneTreeiENSGT00760000119220.
HOGENOMiHOG000233542.
HOVERGENiHBG003458.
InParanoidiQ92523.
KOiK19523.
OMAiFNAEHTW.
OrthoDBiEOG091G026C.
PhylomeDBiQ92523.
TreeFamiTF313836.

Family and domain databases

InterProiIPR000542. Carn_acyl_trans.
IPR032476. CPT_N.
[Graphical view]
PANTHERiPTHR22589. PTHR22589. 1 hit.
PfamiPF00755. Carn_acyltransf. 1 hit.
PF16484. CPT_N. 1 hit.
[Graphical view]
PROSITEiPS00439. ACYLTRANSF_C_1. 1 hit.
PS00440. ACYLTRANSF_C_2. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q92523-1) [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

        10         20         30         40         50
MAEAHQAVAF QFTVTPDGVD FRLSREALKH VYLSGINSWK KRLIRIKNGI
60 70 80 90 100
LRGVYPGSPT SWLVVIMATV GSSFCNVDIS LGLVSCIQRC LPQGCGPYQT
110 120 130 140 150
PQTRALLSMA IFSTGVWVTG IFFFRQTLKL LLCYHGWMFE MHGKTSNLTR
160 170 180 190 200
IWAMCIRLLS SRHPMLYSFQ TSLPKLPVPR VSATIQRYLE SVRPLLDDEE
210 220 230 240 250
YYRMELLAKE FQDKTAPRLQ KYLVLKSWWA SNYVSDWWEE YIYLRGRSPL
260 270 280 290 300
MVNSNYYVMD LVLIKNTDVQ AARLGNIIHA MIMYRRKLDR EEIKPVMALG
310 320 330 340 350
IVPMCSYQME RMFNTTRIPG KDTDVLQHLS DSRHVAVYHK GRFFKLWLYE
360 370 380 390 400
GARLLKPQDL EMQFQRILDD PSPPQPGEEK LAALTAGGRV EWAQARQAFF
410 420 430 440 450
SSGKNKAALE AIERAAFFVA LDEESYSYDP EDEASLSLYG KALLHGNCYN
460 470 480 490 500
RWFDKSFTLI SFKNGQLGLN AEHAWADAPI IGHLWEFVLG TDSFHLGYTE
510 520 530 540 550
TGHCLGKPNP ALAPPTRLQW DIPKQCQAVI ESSYQVAKAL ADDVELYCFQ
560 570 580 590 600
FLPFGKGLIK KCRTSPDAFV QIALQLAHFR DRGKFCLTYE ASMTRMFREG
610 620 630 640 650
RTETVRSCTS ESTAFVQAMM EGSHTKADLR DLFQKAAKKH QNMYRLAMTG
660 670 680 690 700
AGIDRHLFCL YLVSKYLGVS SPFLAEVLSE PWRLSTSQIP QSQIRMFDPE
710 720 730 740 750
QHPNHLGAGG GFGPVADDGY GVSYMIAGEN TIFFHISSKF SSSETNAQRF
760 770
GNHIRKALLD IADLFQVPKA YS
Length:772
Mass (Da):87,801
Last modified:November 1, 1997 - v2
Checksum:iF7E3ED40643DFC81
GO
Isoform 2 (identifier: Q92523-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     581-581: D → G
     582-772: Missing.

Show »
Length:581
Mass (Da):66,384
Checksum:i3814222A5BDBF724
GO
Isoform 3 (identifier: Q92523-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     154-187: Missing.

Note: No experimental confirmation available.
Show »
Length:738
Mass (Da):83,891
Checksum:i24F7EAC9FFEE3D31
GO
Isoform 4 (identifier: Q92523-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     355-435: Missing.

Note: No experimental confirmation available.
Show »
Length:691
Mass (Da):78,844
Checksum:iED1E1029F325C8F4
GO

Sequence cautioni

The sequence BAB33340 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti75C → S in BAH13024 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02002966I → V.Corresponds to variant rs3213445dbSNPEnsembl.1
Natural variantiVAR_021854320G → D.Corresponds to variant rs2269383dbSNPEnsembl.1
Natural variantiVAR_024188427S → C.Corresponds to variant rs8142477dbSNPEnsembl.1
Natural variantiVAR_011739531E → K.2 PublicationsCorresponds to variant rs470117dbSNPEnsembl.1
Natural variantiVAR_011740664S → Y.Corresponds to variant rs1804702dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_043184154 – 187Missing in isoform 3. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_044451355 – 435Missing in isoform 4. 1 PublicationAdd BLAST81
Alternative sequenceiVSP_034246581D → G in isoform 2. 1 Publication1
Alternative sequenceiVSP_034247582 – 772Missing in isoform 2. 1 PublicationAdd BLAST191

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS14098.1. [Q92523-1]
CCDS46734.1. [Q92523-3]
PIRiG02860.
RefSeqiNP_001138606.1. NM_001145134.1. [Q92523-3]
NP_001138607.1. NM_001145135.1. [Q92523-1]
NP_001138609.1. NM_001145137.1. [Q92523-1]
NP_004368.1. NM_004377.3. [Q92523-1]
NP_689451.1. NM_152245.2. [Q92523-1]
NP_689452.1. NM_152246.2. [Q92523-1]
UniGeneiHs.439777.
Hs.609867.

Genome annotation databases

EnsembliENST00000312108; ENSP00000312189; ENSG00000205560. [Q92523-1]
ENST00000360719; ENSP00000353945; ENSG00000205560. [Q92523-1]
ENST00000395650; ENSP00000379011; ENSG00000205560. [Q92523-1]
ENST00000405237; ENSP00000385486; ENSG00000205560. [Q92523-1]
ENST00000457250; ENSP00000409342; ENSG00000205560. [Q92523-3]
GeneIDi1375.
KEGGihsa:1375.
UCSCiuc003bmk.5. human. [Q92523-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS14098.1. [Q92523-1]
CCDS46734.1. [Q92523-3]
PIRiG02860.
RefSeqiNP_001138606.1. NM_001145134.1. [Q92523-3]
NP_001138607.1. NM_001145135.1. [Q92523-1]
NP_001138609.1. NM_001145137.1. [Q92523-1]
NP_004368.1. NM_004377.3. [Q92523-1]
NP_689451.1. NM_152245.2. [Q92523-1]
NP_689452.1. NM_152246.2. [Q92523-1]
UniGeneiHs.439777.
Hs.609867.

3D structure databases

ProteinModelPortaliQ92523.
SMRiQ92523.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107766. 2 interactors.
IntActiQ92523. 1 interactor.
STRINGi9606.ENSP00000312189.

Chemistry databases

BindingDBiQ92523.
ChEMBLiCHEMBL2216739.
SwissLipidsiSLP:000001052.

PTM databases

iPTMnetiQ92523.
PhosphoSitePlusiQ92523.

Polymorphism and mutation databases

BioMutaiCPT1B.
DMDMi2493497.

Proteomic databases

EPDiQ92523.
MaxQBiQ92523.
PaxDbiQ92523.
PeptideAtlasiQ92523.
PRIDEiQ92523.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000312108; ENSP00000312189; ENSG00000205560. [Q92523-1]
ENST00000360719; ENSP00000353945; ENSG00000205560. [Q92523-1]
ENST00000395650; ENSP00000379011; ENSG00000205560. [Q92523-1]
ENST00000405237; ENSP00000385486; ENSG00000205560. [Q92523-1]
ENST00000457250; ENSP00000409342; ENSG00000205560. [Q92523-3]
GeneIDi1375.
KEGGihsa:1375.
UCSCiuc003bmk.5. human. [Q92523-1]

Organism-specific databases

CTDi1375.
DisGeNETi1375.
GeneCardsiCPT1B.
HGNCiHGNC:2329. CPT1B.
HPAiHPA029583.
MIMi601987. gene.
neXtProtiNX_Q92523.
OpenTargetsiENSG00000205560.
PharmGKBiPA26848.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3717. Eukaryota.
ENOG410XNZ9. LUCA.
GeneTreeiENSGT00760000119220.
HOGENOMiHOG000233542.
HOVERGENiHBG003458.
InParanoidiQ92523.
KOiK19523.
OMAiFNAEHTW.
OrthoDBiEOG091G026C.
PhylomeDBiQ92523.
TreeFamiTF313836.

Enzyme and pathway databases

UniPathwayiUPA00659.
BioCyciMetaCyc:MONOMER66-34409.
ZFISH:MONOMER66-34409.
BRENDAi2.3.1.21. 2681.
ReactomeiR-HSA-200425. Import of palmitoyl-CoA into the mitochondrial matrix.
R-HSA-5362517. Signaling by Retinoic Acid.
SABIO-RKQ92523.

Miscellaneous databases

ChiTaRSiCPT1B. human.
GenomeRNAii1375.
PROiQ92523.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000205560.
CleanExiHS_CPT1B.
ExpressionAtlasiQ92523. baseline and differential.
GenevisibleiQ92523. HS.

Family and domain databases

InterProiIPR000542. Carn_acyl_trans.
IPR032476. CPT_N.
[Graphical view]
PANTHERiPTHR22589. PTHR22589. 1 hit.
PfamiPF00755. Carn_acyltransf. 1 hit.
PF16484. CPT_N. 1 hit.
[Graphical view]
PROSITEiPS00439. ACYLTRANSF_C_1. 1 hit.
PS00440. ACYLTRANSF_C_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCPT1B_HUMAN
AccessioniPrimary (citable) accession number: Q92523
Secondary accession number(s): B7Z4U4
, B7Z5T8, E9PCP2, Q13389, Q99655, Q9BY90
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: November 30, 2016
This is version 156 of the entry and version 2 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

Miscellaneous

This protein is produced by a bicistronic gene which also produces the CHKB protein from a non-overlapping reading frame.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.