Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

CPT2_HUMAN

Evidence for PS localization

GO
G2C
SynGO
SynaptomeDB
HPA (protein expression in neurons)

Functions

Involved in the intramitochondrial synthesis of acylcarnitines from accumulated acyl-CoA metabolites (PubMed, PubMed). Reconverts acylcarnitines back into the respective acyl-CoA esters that can then undergo beta-oxidation, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Active with medium (C8-C12) and long-chain (C14-C18) acyl-CoA esters (PubMed). [View more on UniProt]

Protein features

Binary interactions with known binding regions

Interacting region for partners were not defined.

Network

Download full PS network for entry.

Isoforms

Disease-causing germline mutations

Position Amino acid Mutation Disease Overlap with binding region
50 Pro His Carnitinepalmitoyltransferase2deficiency,myopathic,stress-induced(CPT2D) -
113 Ser Leu Carnitinepalmitoyltransferase2deficiency,myopathic,stress-induced(CPT2D) -
174 Glu Lys Carnitinepalmitoyltransferase2deficiency,myopathic,stress-induced(CPT2D) -
383 Phe Tyr Carnitinepalmitoyltransferase2deficiency,myopathic,stress-induced(CPT2D) -
553 Asp Asn Carnitinepalmitoyltransferase2deficiency,myopathic,stress-induced(CPT2D) -
628 Tyr Ser Carnitinepalmitoyltransferase2deficiency,infantile(CPT2DI) -
631 Arg Cys Carnitinepalmitoyltransferase2deficiency,infantile(CPT2DI) -
631 Arg Cys Carnitinepalmitoyltransferase2deficiency,myopathic,stress-induced(CPT2D) -
214 Met Thr Carnitinepalmitoyltransferase2deficiency,myopathic,stress-induced(CPT2D) -
227 Pro Leu Carnitinepalmitoyltransferase2deficiency,myopathic,stress-induced(CPT2D) -
448 Phe Leu Carnitinepalmitoyltransferase2deficiency,myopathic,stress-induced(CPT2D) -
479 Tyr Phe Carnitinepalmitoyltransferase2deficiency,myopathic,stress-induced(CPT2D) -
503 Arg Cys Carnitinepalmitoyltransferase2deficiency,myopathic,stress-induced(CPT2D) -
549 Gly Asp Carnitinepalmitoyltransferase2deficiency,myopathic,stress-induced(CPT2D) -
151 Arg Gln Carnitinepalmitoyltransferase2deficiency,myopathic,stress-induced(CPT2D) -
210 Tyr Asp Carnitinepalmitoyltransferase2deficiency,myopathic,stress-induced(CPT2D) -
296 Arg Gln Carnitinepalmitoyltransferase2deficiency,myopathic,stress-induced(CPT2D) -
550 Gln Arg Carnitinepalmitoyltransferase2deficiency,myopathic,stress-induced(CPT2D) -
600 Gly Arg Carnitinepalmitoyltransferase2deficiency,myopathic,stress-induced(CPT2D) -
604 Pro Ser Carnitinepalmitoyltransferase2deficiency,myopathic,stress-induced(CPT2D) -
213 Asp Gly Carnitinepalmitoyltransferase2deficiency,myopathic,stress-induced(CPT2D) -

Linear motifs

No annotated instance was found. To search for linear motifs, use the ELM prediction server.

Fingerprint

Molecular function

Term Name % Distance from the top of the tree Annotated in CPT2_HUMAN
GO:0016747 acyltransferase activity, transferring groups other than amino-acyl groups 25.0000 4 yes
GO:0046872 metal ion binding 20.8333 4 no
GO:0008374 O-acyltransferase activity 16.6667 5 yes
GO:0016406 carnitine O-acyltransferase activity 16.6667 6 yes
GO:0004095 carnitine O-palmitoyltransferase activity 12.5000 7 yes
GO:0016409 palmitoyltransferase activity 12.5000 5 yes
GO:0016416 O-palmitoyltransferase activity 12.5000 6 yes
GO:0008458 carnitine O-octanoyltransferase activity 8.3333 7 yes
GO:0016414 O-octanoyltransferase activity 8.3333 6 yes
GO:0016415 octanoyltransferase activity 8.3333 5 yes

Biological process

Term Name % Distance from top the of the tree Annotated in CPT2_HUMAN
GO:0019752 carboxylic acid metabolic process 54.1667 5 yes
GO:0032787 monocarboxylic acid metabolic process 54.1667 6 yes
GO:0043436 oxoacid metabolic process 54.1667 4 yes
GO:0006631 fatty acid metabolic process 45.8333 4 yes
GO:0006635 fatty acid beta-oxidation 45.8333 6 yes
GO:0009062 fatty acid catabolic process 45.8333 5 yes
GO:0016042 lipid catabolic process 45.8333 4 yes
GO:0016054 organic acid catabolic process 45.8333 4 yes
GO:0019395 fatty acid oxidation 45.8333 5 yes
GO:0030258 lipid modification 45.8333 4 yes
GO:0034440 lipid oxidation 45.8333 5 yes
GO:0044242 cellular lipid catabolic process 45.8333 4 yes
GO:0046395 carboxylic acid catabolic process 45.8333 5 yes
GO:0072329 monocarboxylic acid catabolic process 45.8333 6 yes
GO:0009893 positive regulation of metabolic process 37.5000 4 yes
GO:0010646 regulation of cell communication 37.5000 4 no
GO:0048522 positive regulation of cellular process 33.3333 4 no
GO:0048523 negative regulation of cellular process 33.3333 4 no
GO:0051240 positive regulation of multicellular organismal process 29.1667 4 yes
GO:0031323 regulation of cellular metabolic process 29.1667 4 no
GO:0051049 regulation of transport 29.1667 4 no
GO:0009966 regulation of signal transduction 29.1667 4 no
GO:0060255 regulation of macromolecule metabolic process 29.1667 4 no
GO:1902531 regulation of intracellular signal transduction 29.1667 5 no
GO:0071702 organic substance transport 25.0000 4 yes
GO:0010243 response to organonitrogen compound 25.0000 4 no
GO:0071310 cellular response to organic substance 25.0000 4 no
GO:0080090 regulation of primary metabolic process 25.0000 4 no
GO:0010468 regulation of gene expression 25.0000 5 no
GO:0010648 negative regulation of cell communication 25.0000 5 no
GO:0010941 regulation of cell death 25.0000 4 no
GO:0023057 negative regulation of signaling 25.0000 4 no
GO:0042981 regulation of apoptotic process 25.0000 6 no
GO:0043066 negative regulation of apoptotic process 25.0000 7 no
GO:0043067 regulation of programmed cell death 25.0000 5 no
GO:0043069 negative regulation of programmed cell death 25.0000 6 no
GO:0060548 negative regulation of cell death 25.0000 5 no
GO:0006577 amino-acid betaine metabolic process 20.8333 4 yes
GO:0006996 organelle organization 20.8333 4 no
GO:0022607 cellular component assembly 20.8333 4 no
GO:0008104 protein localization 20.8333 4 no
GO:0051128 regulation of cellular component organization 20.8333 4 no
GO:0051171 regulation of nitrogen compound metabolic process 20.8333 4 no
GO:0009967 positive regulation of signal transduction 20.8333 5 no
GO:0010647 positive regulation of cell communication 20.8333 5 no
GO:0023056 positive regulation of signaling 20.8333 4 no
GO:0048584 positive regulation of response to stimulus 20.8333 4 no
GO:1902533 positive regulation of intracellular signal transduction 20.8333 6 no
GO:0009437 carnitine metabolic process 16.6667 5 yes
GO:0120162 positive regulation of cold-induced thermogenesis 16.6667 4 yes
GO:0006839 mitochondrial transport 12.5000 4 yes
GO:0015849 organic acid transport 12.5000 5 yes
GO:0001676 long-chain fatty acid metabolic process 8.3333 5 yes
GO:0001701 in utero embryonic development 8.3333 6 yes
GO:0006853 carnitine shuttle 8.3333 4 yes
GO:0006869 lipid transport 8.3333 5 yes
GO:0009792 embryo development ending in birth or egg hatching 8.3333 4 yes
GO:0015908 fatty acid transport 8.3333 6 yes
GO:0015909 long-chain fatty acid transport 8.3333 7 yes
GO:0032365 intracellular lipid transport 8.3333 4 yes
GO:0043009 chordate embryonic development 8.3333 5 yes
GO:1902001 fatty acid transmembrane transport 8.3333 5 yes
GO:1905039 carboxylic acid transmembrane transport 8.3333 4 yes

Disease

Term Name % Distance from top the of the tree Annotated in CPT2_HUMAN
DOID:3146 lipid metabolism disorder 8.3333 3 yes
DOID:331 central nervous system disease 8.3333 3 no

All partners

Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
SYVN1_HUMAN [view interactions] Low throughput no yes
ICT1_HUMAN [view interactions] High throughput no yes
APJ_HUMAN [view interactions] High throughput no yes
ATPD_HUMAN [view interactions] High throughput no yes
NDUAD_HUMAN [view entry] [view interactions] High throughput yes yes
MCL1_HUMAN [view interactions] High throughput no yes
MRM3_HUMAN [view interactions] High throughput no yes
MCUR1_HUMAN [view interactions] High throughput no no
ARHGQ_HUMAN [view interactions] High throughput no yes
NMES1_HUMAN [view interactions] High throughput no no
MAIP1_HUMAN [view interactions] High throughput no yes
COQ9_HUMAN [view interactions] High throughput no yes
NDUA4_HUMAN [view entry] [view interactions] High throughput yes yes
NDUS3_HUMAN [view entry] [view interactions] High throughput yes yes
PTPM1_HUMAN [view interactions] High throughput no yes
EPHB6_HUMAN [view interactions] High throughput no no
HSC20_HUMAN [view interactions] High throughput no yes
HSPB2_HUMAN [view interactions] High throughput no yes
TX101_HUMAN [view interactions] High throughput no no
CRTP1_HUMAN [view interactions] High throughput no yes
OTX1_HUMAN [view interactions] High throughput no no
FAHD1_HUMAN [view interactions] High throughput no yes
ATF6B_HUMAN [view interactions] High throughput no yes
ARGI2_HUMAN [view interactions] High throughput no yes
OXLD1_HUMAN [view interactions] High throughput no no
HCD2_HUMAN [view entry] [view interactions] High throughput yes yes
COQ8A_HUMAN [view interactions] High throughput no no
NDUF8_HUMAN [view interactions] High throughput no no
TMM70_HUMAN [view interactions] High throughput no yes
PARK7_HUMAN [view entry] [view interactions] High throughput yes yes
CXA1_HUMAN [view entry] [view interactions] High throughput yes yes
BACD3_HUMAN [view interactions] High throughput no yes
CFAD_HUMAN [view interactions] High throughput no no
FNDC5_HUMAN [view interactions] High throughput no no
SMAD4_HUMAN [view interactions] High throughput no yes
S2535_HUMAN [view interactions] High throughput no no
ALAT2_HUMAN [view interactions] High throughput no yes
ACSM5_HUMAN [view interactions] High throughput no yes
NUD13_HUMAN [view interactions] High throughput no no
SPRE2_HUMAN [view interactions] High throughput no yes
KBL_HUMAN [view interactions] High throughput no yes
DIC_HUMAN [view interactions] High throughput no yes
SYYM_HUMAN [view interactions] High throughput no no
GATA_HUMAN [view interactions] High throughput no yes
AMACR_HUMAN [view interactions] High throughput no yes
KAD4_HUMAN [view interactions] High throughput no yes
SSH3_HUMAN [view interactions] High throughput no yes
NRP1_HUMAN [view entry] [view interactions] High throughput yes yes
LYRIC_HUMAN [view entry] [view interactions] High throughput yes yes
AL7A1_HUMAN [view entry] [view interactions] High throughput yes no
AT1B1_HUMAN [view entry] [view interactions] High throughput yes no
AT1B3_HUMAN [view interactions] High throughput no yes
ATP5L_HUMAN [view interactions] High throughput no yes
SCPDL_HUMAN [view entry] [view interactions] High throughput yes yes
TOM40_HUMAN [view interactions] High throughput no yes
QCR8_HUMAN [view interactions] High throughput no yes
CCHL_HUMAN [view interactions] High throughput no yes
RAB32_HUMAN [view interactions] High throughput no yes
SQOR_HUMAN [view interactions] High throughput no yes
ACADS_HUMAN [view interactions] High throughput no yes
CATA_HUMAN [view entry] [view interactions] High throughput yes no
CACP_HUMAN [view entry] [view interactions] High throughput yes yes
ECI1_HUMAN [view interactions] High throughput no yes
ETFB_HUMAN [view entry] [view interactions] High throughput yes yes
ETFD_HUMAN [view entry] [view interactions] High throughput yes yes
SRR_HUMAN [view entry] [view interactions] High throughput yes yes
ACD11_HUMAN [view interactions] High throughput no yes
ACADL_HUMAN [view interactions] High throughput no no
ACADM_HUMAN [view interactions] High throughput no yes
ACADV_HUMAN [view interactions] High throughput no yes
ECH1_HUMAN [view interactions] High throughput no yes
DECR_HUMAN [view entry] [view interactions] High throughput yes yes
HCDH_HUMAN [view entry] [view interactions] High throughput yes yes
ECHA_HUMAN [view entry] [view interactions] High throughput yes yes
ECHB_HUMAN [view entry] [view interactions] High throughput yes yes
HSDL2_HUMAN [view entry] [view interactions] High throughput yes yes
SKP1_HUMAN [view interactions] High throughput no yes
THIM_HUMAN [view interactions] High throughput no yes
S10AB_HUMAN [view interactions] High throughput no no
GAL3A_HUMAN [view interactions] High throughput no yes
GAL3B_HUMAN [view interactions] High throughput no yes
COX15_HUMAN [view interactions] High throughput no yes
TGS1_HUMAN [view interactions] Computational no yes
TBL1R_HUMAN [view interactions] Computational no yes
CARM1_HUMAN [view interactions] Computational no yes
MCAT_HUMAN [view interactions] Computational no yes
CBP_HUMAN [view interactions] Computational no yes
NCOA1_HUMAN [view interactions] Computational no yes
PPARA_HUMAN [view interactions] Computational no yes
CPT1B_HUMAN [view interactions] Computational no no
NCOA2_HUMAN [view interactions] Computational no no
CPT1A_HUMAN [view entry] [view interactions] Computational yes yes
FABPL_HUMAN [view interactions] Computational no no
HELZ2_HUMAN [view interactions] Computational no no
CPT1C_HUMAN [view entry] [view interactions] Computational yes yes
NCOA6_HUMAN [view interactions] Computational no yes
ACOX1_HUMAN [view interactions] Computational no yes
RXRA_HUMAN [view interactions] Computational no yes
CHD9_HUMAN [view interactions] Computational no yes
ACOX3_HUMAN [view interactions] Computational no yes
MED1_HUMAN [view interactions] Computational no no
SMRD3_HUMAN [view interactions] Computational no no