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Protein

Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial

Gene

OXCT1

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

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

Succinyl-CoA + a 3-oxo acid = succinate + a 3-oxoacyl-CoA.PROSITE-ProRule annotation

Pathwayi: succinyl-CoA degradation

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:
  1. Succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial (OXCT2), Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial (OXCT1), Succinyl-CoA:3-ketoacid-coenzyme A transferase (OXCT1), Succinyl-CoA:3-ketoacid-coenzyme A transferase (BQ8482_310142), Succinyl-CoA:3-ketoacid-coenzyme A transferase (OXCT), Succinyl-CoA:3-ketoacid-coenzyme A transferase
This subpathway is part of the pathway succinyl-CoA degradation, which is itself part of Ketone metabolism.
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 keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei3445-glutamyl coenzyme A thioester intermediatePROSITE-ProRule annotation1

GO - Molecular functioni

  • 3-oxoacid CoA-transferase activity Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionTransferase

Enzyme and pathway databases

BioCyciMetaCyc:HS01447-MONOMER
BRENDAi2.8.3.5 2681
ReactomeiR-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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000083720.12
HGNCiHGNC:8527 OXCT1
MIMi601424 gene
neXtProtiNX_P55809

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of ketone body metabolism, characterized by episodic ketoacidosis. Patients are usually asymptomatic between episodes.
See also OMIM:245050
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_000696133V → E in SCOTD. 1 PublicationCorresponds to variant dbSNP:rs267606930EnsemblClinVar.1
Natural variantiVAR_065564215A → V in SCOTD; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs201752548Ensembl.1
Natural variantiVAR_010337219G → E in SCOTD. 1 PublicationCorresponds to variant dbSNP:rs121909302EnsemblClinVar.1
Natural variantiVAR_010338221V → M in SCOTD. 1 PublicationCorresponds to variant dbSNP:rs121909303EnsemblClinVar.1
Natural variantiVAR_065565226S → N in SCOTD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs368841359Ensembl.1
Natural variantiVAR_010339324G → E in SCOTD. 1 PublicationCorresponds to variant dbSNP:rs121909301EnsemblClinVar.1
Natural variantiVAR_065566327L → P in SCOTD; partial loss of activity. 1 Publication1
Natural variantiVAR_065567404V → F in SCOTD; loss of activity. 1 Publication1
Natural variantiVAR_065568405S → P in SCOTD; loss of activity. 1 Publication1
Natural variantiVAR_000697456C → F in SCOTD. 1 PublicationCorresponds to variant dbSNP:rs121909300EnsemblClinVar.1
Natural variantiVAR_065569468R → C in SCOTD; partial loss of activity; the mutant retains half of the activity of the wild-type at 30 degrees. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi5019
MalaCardsiOXCT1
MIMi245050 phenotype
OpenTargetsiENSG00000083720
Orphaneti832 Succinyl-CoA:3-ketoacid CoA transferase deficiency
PharmGKBiPA32855

Chemistry databases

DrugBankiDB02731 Ethylmercurithiosalicylic acid
DB00139 Succinic acid

Polymorphism and mutation databases

BioMutaiOXCT1
DMDMi2492998

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 39Mitochondrion1 PublicationAdd BLAST39
ChainiPRO_000000241340 – 520Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrialAdd BLAST481

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei170PhosphoserineCombined sources1
Modified residuei185N6-succinyllysineBy similarity1
Modified residuei418N6-succinyllysineBy similarity1
Modified residuei421N6-succinyllysineBy similarity1
Modified residuei455N6-succinyllysineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP55809
MaxQBiP55809
PaxDbiP55809
PeptideAtlasiP55809
PRIDEiP55809
ProteomicsDBi56871

2D gel databases

UCD-2DPAGEiP55809

PTM databases

iPTMnetiP55809
PhosphoSitePlusiP55809

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

BgeeiENSG00000083720 Expressed in 233 organ(s), highest expression level in middle temporal gyrus
CleanExiHS_OXCT1
ExpressionAtlasiP55809 baseline and differential
GenevisibleiP55809 HS

Organism-specific databases

HPAiHPA012047
HPA061425

Interactioni

Subunit structurei

Homodimer.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111059, 64 interactors
IntActiP55809, 9 interactors
MINTiP55809
STRINGi9606.ENSP00000196371

Structurei

Secondary structure

1520
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP55809
SMRiP55809
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP55809

Family & Domainsi

Sequence similaritiesi

Belongs to the 3-oxoacid CoA-transferase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG3822 Eukaryota
COG1788 LUCA
COG2057 LUCA
GeneTreeiENSGT00390000009130
HOGENOMiHOG000221245
HOVERGENiHBG002310
InParanoidiP55809
KOiK01027
OMAiNPAYSGE
OrthoDBiEOG091G0D3X
PhylomeDBiP55809
TreeFamiTF313991

Family and domain databases

InterProiView 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
PANTHERiPTHR13707 PTHR13707, 1 hit
PfamiView protein in Pfam
PF01144 CoA_trans, 2 hits
PIRSFiPIRSF000858 SCOT-t, 1 hit
SMARTiView protein in SMART
SM00882 CoA_trans, 2 hits
SUPFAMiSSF100950 SSF100950, 2 hits
TIGRFAMsiTIGR02429 pcaI_scoA_fam, 1 hit
TIGR02428 pcaJ_scoB_fam, 1 hit
PROSITEiView protein in PROSITE
PS01273 COA_TRANSF_1, 1 hit
PS01274 COA_TRANSF_2, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.iShow all

Isoform 1 (identifier: P55809-1) [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
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
Length:520
Mass (Da):56,158
Last modified:November 1, 1997 - v1
Checksum:i54DA790FB8EDA546
GO
Isoform 2 (identifier: P55809-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-397: Missing.

Note: No experimental confirmation available.
Show »
Length:123
Mass (Da):13,358
Checksum:i5B36DC7CF0E0B843
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PDW2E9PDW2_HUMAN
Succinyl-CoA:3-ketoacid coenzyme A ...
OXCT1
334Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti95D → G in BAG35249 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00069558T → M2 PublicationsCorresponds to variant dbSNP:rs75134564EnsemblClinVar.1
Natural variantiVAR_000696133V → E in SCOTD. 1 PublicationCorresponds to variant dbSNP:rs267606930EnsemblClinVar.1
Natural variantiVAR_065564215A → V in SCOTD; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs201752548Ensembl.1
Natural variantiVAR_010337219G → E in SCOTD. 1 PublicationCorresponds to variant dbSNP:rs121909302EnsemblClinVar.1
Natural variantiVAR_010338221V → M in SCOTD. 1 PublicationCorresponds to variant dbSNP:rs121909303EnsemblClinVar.1
Natural variantiVAR_065565226S → N in SCOTD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs368841359Ensembl.1
Natural variantiVAR_010339324G → E in SCOTD. 1 PublicationCorresponds to variant dbSNP:rs121909301EnsemblClinVar.1
Natural variantiVAR_065566327L → P in SCOTD; partial loss of activity. 1 Publication1
Natural variantiVAR_065567404V → F in SCOTD; loss of activity. 1 Publication1
Natural variantiVAR_065568405S → P in SCOTD; loss of activity. 1 Publication1
Natural variantiVAR_000697456C → F in SCOTD. 1 PublicationCorresponds to variant dbSNP:rs121909300EnsemblClinVar.1
Natural variantiVAR_065569468R → C in SCOTD; partial loss of activity; the mutant retains half of the activity of the wild-type at 30 degrees. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0563101 – 397Missing in isoform 2. 1 PublicationAdd BLAST397

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
CCDSiCCDS3937.1 [P55809-1]
RefSeqiNP_000427.1, NM_000436.3 [P55809-1]
UniGeneiHs.278277

Genome annotation databases

EnsembliENST00000196371; ENSP00000196371; ENSG00000083720 [P55809-1]
ENST00000510634; ENSP00000423144; ENSG00000083720 [P55809-2]
ENST00000512084; ENSP00000421143; ENSG00000083720 [P55809-2]
GeneIDi5019
KEGGihsa:5019
UCSCiuc003jmn.4 human [P55809-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSCOT1_HUMAN
AccessioniPrimary (citable) accession number: P55809
Secondary accession number(s): B2R5V2, B7Z528
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: September 12, 2018
This is version 173 of the entry and version 1 of the sequence. See 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, Direct protein sequencing, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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