UniProtKB - P55809 (SCOT1_HUMAN)
Protein
Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial
Gene
OXCT1
Organism
Homo sapiens (Human)
Status
Functioni
Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate.
Catalytic activityi
- EC:2.8.3.5PROSITE-ProRule annotation
: succinyl-CoA degradation Pathwayi
This protein is involved in step 1 of the subpathway that synthesizes acetoacetyl-CoA from succinyl-CoA.Proteins known to be involved in this subpathway in this organism are:
- Succinyl-CoA:3-ketoacid-coenzyme A transferase, Succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial (OXCT2), Succinyl-CoA:3-ketoacid-coenzyme A transferase (OXCT1), Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial (OXCT1), Succinyl-CoA:3-ketoacid-coenzyme A transferase (OXCT)
View all proteins of this organism that are known to be involved in the subpathway that synthesizes acetoacetyl-CoA from succinyl-CoA, the pathway succinyl-CoA degradation and in Ketone metabolism.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 344 | 5-glutamyl coenzyme A thioester intermediatePROSITE-ProRule annotation | 1 |
GO - Molecular functioni
- 3-oxoacid CoA-transferase activity Source: UniProtKB
- CoA-transferase activity Source: GO_Central
- identical protein binding Source: Ensembl
GO - Biological processi
- adipose tissue development Source: Ensembl
- brain development Source: Ensembl
- cellular ketone body metabolic process Source: UniProtKB
- heart development Source: Ensembl
- ketone body catabolic process Source: Reactome
- ketone catabolic process Source: Ensembl
- positive regulation of insulin secretion involved in cellular response to glucose stimulus Source: Ensembl
- response to activity Source: Ensembl
- response to drug Source: Ensembl
- response to ethanol Source: Ensembl
- response to hormone Source: Ensembl
- response to nutrient Source: Ensembl
- response to starvation Source: Ensembl
Keywordsi
Molecular function | Transferase |
Enzyme and pathway databases
BioCyci | MetaCyc:HS01447-MONOMER |
BRENDAi | 2.8.3.5, 2681 |
PathwayCommonsi | P55809 |
Reactomei | R-HSA-77108, Utilization of Ketone Bodies |
UniPathwayi | UPA00929;UER00894 |
Names & Taxonomyi
Protein namesi | Recommended name: Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial (EC:2.8.3.5)Alternative name(s): 3-oxoacid CoA-transferase 1 Somatic-type succinyl-CoA:3-oxoacid CoA-transferase Short name: SCOT-s |
Gene namesi | Name:OXCT1 Synonyms:OXCT, SCOT |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8527, OXCT1 |
MIMi | 601424, gene |
neXtProti | NX_P55809 |
VEuPathDBi | HostDB:ENSG00000083720.12 |
Subcellular locationi
Mitochondrion
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrion Source: UniProtKB
Nucleus
- nucleoplasm Source: HPA
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder of ketone body metabolism, characterized by episodic ketoacidosis. Patients are usually asymptomatic between episodes.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_000696 | 133 | V → E in SCOTD. 1 PublicationCorresponds to variant dbSNP:rs267606930EnsemblClinVar. | 1 | |
Natural variantiVAR_065564 | 215 | A → V in SCOTD; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs201752548Ensembl. | 1 | |
Natural variantiVAR_010337 | 219 | G → E in SCOTD. 1 PublicationCorresponds to variant dbSNP:rs121909302EnsemblClinVar. | 1 | |
Natural variantiVAR_010338 | 221 | V → M in SCOTD. 1 PublicationCorresponds to variant dbSNP:rs121909303EnsemblClinVar. | 1 | |
Natural variantiVAR_065565 | 226 | S → N in SCOTD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs368841359Ensembl. | 1 | |
Natural variantiVAR_010339 | 324 | G → E in SCOTD. 1 PublicationCorresponds to variant dbSNP:rs121909301EnsemblClinVar. | 1 | |
Natural variantiVAR_065566 | 327 | L → P in SCOTD; partial loss of activity. 1 Publication | 1 | |
Natural variantiVAR_065567 | 404 | V → F in SCOTD; loss of activity. 1 Publication | 1 | |
Natural variantiVAR_065568 | 405 | S → P in SCOTD; loss of activity. 1 Publication | 1 | |
Natural variantiVAR_000697 | 456 | C → F in SCOTD. 1 PublicationCorresponds to variant dbSNP:rs121909300EnsemblClinVar. | 1 | |
Natural variantiVAR_065569 | 468 | R → C in SCOTD; partial loss of activity; the mutant retains half of the activity of the wild-type at 30 degrees. 1 PublicationCorresponds to variant dbSNP:rs1327401976EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 5019 |
MalaCardsi | OXCT1 |
MIMi | 245050, phenotype |
OpenTargetsi | ENSG00000083720 |
Orphaneti | 832, Succinyl-CoA:3-ketoacid CoA transferase deficiency |
PharmGKBi | PA32855 |
Miscellaneous databases
Pharosi | P55809, Tbio |
Chemistry databases
DrugBanki | DB02731, Ethylmercurithiosalicylic acid DB00139, Succinic acid |
Genetic variation databases
BioMutai | OXCT1 |
DMDMi | 2492998 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 39 | Mitochondrion1 PublicationAdd BLAST | 39 | |
ChainiPRO_0000002413 | 40 – 520 | Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrialAdd BLAST | 481 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 170 | PhosphoserineCombined sources | 1 | |
Modified residuei | 185 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 418 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 421 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 455 | N6-succinyllysineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | P55809 |
jPOSTi | P55809 |
MassIVEi | P55809 |
MaxQBi | P55809 |
PaxDbi | P55809 |
PeptideAtlasi | P55809 |
PRIDEi | P55809 |
ProteomicsDBi | 56871 [P55809-1] 6656 |
2D gel databases
UCD-2DPAGEi | P55809 |
PTM databases
iPTMneti | P55809 |
PhosphoSitePlusi | P55809 |
SwissPalmi | P55809 |
Expressioni
Tissue specificityi
Abundant in heart, followed in order by kidney, brain, and muscle, whereas in liver it is undetectable; also detectable in leukocytes and fibroblasts.
Gene expression databases
Bgeei | ENSG00000083720, Expressed in middle temporal gyrus and 243 other tissues |
ExpressionAtlasi | P55809, baseline and differential |
Genevisiblei | P55809, HS |
Organism-specific databases
HPAi | ENSG00000083720, Tissue enhanced (heart) |
Interactioni
Subunit structurei
Homodimer.
GO - Molecular functioni
- identical protein binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 111059, 100 interactors |
IntActi | P55809, 27 interactors |
MINTi | P55809 |
STRINGi | 9606.ENSP00000196371 |
Miscellaneous databases
RNActi | P55809, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P55809 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P55809 |
Family & Domainsi
Sequence similaritiesi
Belongs to the 3-oxoacid CoA-transferase family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG3822, Eukaryota |
GeneTreei | ENSGT00390000009130 |
HOGENOMi | CLU_019942_1_3_1 |
InParanoidi | P55809 |
OMAi | RYTANNF |
OrthoDBi | 1076134at2759 |
PhylomeDBi | P55809 |
TreeFami | TF313991 |
Family and domain databases
InterProi | View protein in InterPro IPR012792, 3-oxoacid_CoA-transf_A IPR012791, 3-oxoacid_CoA-transf_B IPR014388, 3-oxoacid_CoA-transferase IPR004165, CoA_trans_fam_I IPR004164, CoA_transf_AS IPR004163, CoA_transf_BS IPR037171, NagB/RpiA_transferase-like |
PANTHERi | PTHR13707, PTHR13707, 1 hit |
Pfami | View protein in Pfam PF01144, CoA_trans, 2 hits |
PIRSFi | PIRSF000858, SCOT-t, 1 hit |
SMARTi | View protein in SMART SM00882, CoA_trans, 2 hits |
SUPFAMi | SSF100950, SSF100950, 2 hits |
TIGRFAMsi | TIGR02429, pcaI_scoA_fam, 1 hit TIGR02428, pcaJ_scoB_fam, 1 hit |
PROSITEi | View protein in PROSITE PS01273, COA_TRANSF_1, 1 hit PS01274, COA_TRANSF_2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: P55809-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAALKLLSSG LRLCASARGS GATWYKGCVC SFSTSAHRHT KFYTDPVEAV
60 70 80 90 100
KDIPDGATVL VGGFGLCGIP ENLIDALLKT GVKGLTAVSN NAGVDNFGLG
110 120 130 140 150
LLLRSKQIKR MVSSYVGENA EFERQYLSGE LEVELTPQGT LAERIRAGGA
160 170 180 190 200
GVPAFYTPTG YGTLVQEGGS PIKYNKDGSV AIASKPREVR EFNGQHFILE
210 220 230 240 250
EAITGDFALV KAWKADRAGN VIFRKSARNF NLPMCKAAET TVVEVEEIVD
260 270 280 290 300
IGAFAPEDIH IPQIYVHRLI KGEKYEKRIE RLSIRKEGDG EAKSAKPGDD
310 320 330 340 350
VRERIIKRAA LEFEDGMYAN LGIGIPLLAS NFISPNITVH LQSENGVLGL
360 370 380 390 400
GPYPRQHEAD ADLINAGKET VTILPGASFF SSDESFAMIR GGHVDLTMLG
410 420 430 440 450
AMQVSKYGDL ANWMIPGKMV KGMGGAMDLV SSAKTKVVVT MEHSAKGNAH
460 470 480 490 500
KIMEKCTLPL TGKQCVNRII TEKAVFDVDK KKGLTLIELW EGLTVDDVQK
510 520
STGCDFAVSP KLMPMQQIAN
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketE9PDW2 | E9PDW2_HUMAN | Succinyl-CoA:3-ketoacid coenzyme A ... | OXCT1 | 334 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 95 | D → G in BAG35249 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_000695 | 58 | T → M2 PublicationsCorresponds to variant dbSNP:rs75134564Ensembl. | 1 | |
Natural variantiVAR_000696 | 133 | V → E in SCOTD. 1 PublicationCorresponds to variant dbSNP:rs267606930EnsemblClinVar. | 1 | |
Natural variantiVAR_065564 | 215 | A → V in SCOTD; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs201752548Ensembl. | 1 | |
Natural variantiVAR_010337 | 219 | G → E in SCOTD. 1 PublicationCorresponds to variant dbSNP:rs121909302EnsemblClinVar. | 1 | |
Natural variantiVAR_010338 | 221 | V → M in SCOTD. 1 PublicationCorresponds to variant dbSNP:rs121909303EnsemblClinVar. | 1 | |
Natural variantiVAR_065565 | 226 | S → N in SCOTD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs368841359Ensembl. | 1 | |
Natural variantiVAR_010339 | 324 | G → E in SCOTD. 1 PublicationCorresponds to variant dbSNP:rs121909301EnsemblClinVar. | 1 | |
Natural variantiVAR_065566 | 327 | L → P in SCOTD; partial loss of activity. 1 Publication | 1 | |
Natural variantiVAR_065567 | 404 | V → F in SCOTD; loss of activity. 1 Publication | 1 | |
Natural variantiVAR_065568 | 405 | S → P in SCOTD; loss of activity. 1 Publication | 1 | |
Natural variantiVAR_000697 | 456 | C → F in SCOTD. 1 PublicationCorresponds to variant dbSNP:rs121909300EnsemblClinVar. | 1 | |
Natural variantiVAR_065569 | 468 | R → C in SCOTD; partial loss of activity; the mutant retains half of the activity of the wild-type at 30 degrees. 1 PublicationCorresponds to variant dbSNP:rs1327401976EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056310 | 1 – 397 | Missing in isoform 2. 1 PublicationAdd BLAST | 397 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U62961 mRNA Translation: AAB07366.1 AB029576 Genomic DNA Translation: BAB13733.1 AK298352 mRNA Translation: BAH12764.1 AK312327 mRNA Translation: BAG35249.1 AK315902 mRNA Translation: BAH14273.1 AC008817 Genomic DNA No translation available. AC034222 Genomic DNA No translation available. AC114946 Genomic DNA No translation available. BC009001 mRNA Translation: AAH09001.1 |
CCDSi | CCDS3937.1 [P55809-1] |
RefSeqi | NP_000427.1, NM_000436.3 [P55809-1] |
Genome annotation databases
Ensembli | ENST00000196371; ENSP00000196371; ENSG00000083720 [P55809-1] ENST00000510634; ENSP00000423144; ENSG00000083720 [P55809-2] ENST00000512084; ENSP00000421143; ENSG00000083720 [P55809-2] |
GeneIDi | 5019 |
KEGGi | hsa:5019 |
UCSCi | uc003jmn.4, human [P55809-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U62961 mRNA Translation: AAB07366.1 AB029576 Genomic DNA Translation: BAB13733.1 AK298352 mRNA Translation: BAH12764.1 AK312327 mRNA Translation: BAG35249.1 AK315902 mRNA Translation: BAH14273.1 AC008817 Genomic DNA No translation available. AC034222 Genomic DNA No translation available. AC114946 Genomic DNA No translation available. BC009001 mRNA Translation: AAH09001.1 |
CCDSi | CCDS3937.1 [P55809-1] |
RefSeqi | NP_000427.1, NM_000436.3 [P55809-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3DLX | X-ray | 2.20 | A/B/C/D | 40-520 | [»] | |
SMRi | P55809 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 111059, 100 interactors |
IntActi | P55809, 27 interactors |
MINTi | P55809 |
STRINGi | 9606.ENSP00000196371 |
Chemistry databases
DrugBanki | DB02731, Ethylmercurithiosalicylic acid DB00139, Succinic acid |
PTM databases
iPTMneti | P55809 |
PhosphoSitePlusi | P55809 |
SwissPalmi | P55809 |
Genetic variation databases
BioMutai | OXCT1 |
DMDMi | 2492998 |
2D gel databases
UCD-2DPAGEi | P55809 |
Proteomic databases
EPDi | P55809 |
jPOSTi | P55809 |
MassIVEi | P55809 |
MaxQBi | P55809 |
PaxDbi | P55809 |
PeptideAtlasi | P55809 |
PRIDEi | P55809 |
ProteomicsDBi | 56871 [P55809-1] 6656 |
Protocols and materials databases
Antibodypediai | 1558, 163 antibodies |
DNASUi | 5019 |
Genome annotation databases
Ensembli | ENST00000196371; ENSP00000196371; ENSG00000083720 [P55809-1] ENST00000510634; ENSP00000423144; ENSG00000083720 [P55809-2] ENST00000512084; ENSP00000421143; ENSG00000083720 [P55809-2] |
GeneIDi | 5019 |
KEGGi | hsa:5019 |
UCSCi | uc003jmn.4, human [P55809-1] |
Organism-specific databases
CTDi | 5019 |
DisGeNETi | 5019 |
GeneCardsi | OXCT1 |
HGNCi | HGNC:8527, OXCT1 |
HPAi | ENSG00000083720, Tissue enhanced (heart) |
MalaCardsi | OXCT1 |
MIMi | 245050, phenotype 601424, gene |
neXtProti | NX_P55809 |
OpenTargetsi | ENSG00000083720 |
Orphaneti | 832, Succinyl-CoA:3-ketoacid CoA transferase deficiency |
PharmGKBi | PA32855 |
VEuPathDBi | HostDB:ENSG00000083720.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3822, Eukaryota |
GeneTreei | ENSGT00390000009130 |
HOGENOMi | CLU_019942_1_3_1 |
InParanoidi | P55809 |
OMAi | RYTANNF |
OrthoDBi | 1076134at2759 |
PhylomeDBi | P55809 |
TreeFami | TF313991 |
Enzyme and pathway databases
UniPathwayi | UPA00929;UER00894 |
BioCyci | MetaCyc:HS01447-MONOMER |
BRENDAi | 2.8.3.5, 2681 |
PathwayCommonsi | P55809 |
Reactomei | R-HSA-77108, Utilization of Ketone Bodies |
Miscellaneous databases
BioGRID-ORCSi | 5019, 10 hits in 878 CRISPR screens |
ChiTaRSi | OXCT1, human |
EvolutionaryTracei | P55809 |
GeneWikii | OXCT1 |
GenomeRNAii | 5019 |
Pharosi | P55809, Tbio |
PROi | PR:P55809 |
RNActi | P55809, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000083720, Expressed in middle temporal gyrus and 243 other tissues |
ExpressionAtlasi | P55809, baseline and differential |
Genevisiblei | P55809, HS |
Family and domain databases
InterProi | View protein in InterPro IPR012792, 3-oxoacid_CoA-transf_A IPR012791, 3-oxoacid_CoA-transf_B IPR014388, 3-oxoacid_CoA-transferase IPR004165, CoA_trans_fam_I IPR004164, CoA_transf_AS IPR004163, CoA_transf_BS IPR037171, NagB/RpiA_transferase-like |
PANTHERi | PTHR13707, PTHR13707, 1 hit |
Pfami | View protein in Pfam PF01144, CoA_trans, 2 hits |
PIRSFi | PIRSF000858, SCOT-t, 1 hit |
SMARTi | View protein in SMART SM00882, CoA_trans, 2 hits |
SUPFAMi | SSF100950, SSF100950, 2 hits |
TIGRFAMsi | TIGR02429, pcaI_scoA_fam, 1 hit TIGR02428, pcaJ_scoB_fam, 1 hit |
PROSITEi | View protein in PROSITE PS01273, COA_TRANSF_1, 1 hit PS01274, COA_TRANSF_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SCOT1_HUMAN | |
Accessioni | P55809Primary (citable) accession number: P55809 Secondary accession number(s): B2R5V2, B7Z528 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | November 1, 1997 | |
Last modified: | February 10, 2021 | |
This is version 190 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM