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Protein

2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial

Gene

GCAT

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

Functioni

Catalytic activityi

Acetyl-CoA + glycine = CoA + 2-amino-3-oxobutanoate.

Cofactori

Pathwayi: L-threonine degradation via oxydo-reductase pathway

This protein is involved in step 2 of the subpathway that synthesizes glycine from L-threonine.
Proteins known to be involved in the 2 steps of the subpathway in this organism are:
  1. no protein annotated in this organism
  2. 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial (GCAT)
This subpathway is part of the pathway L-threonine degradation via oxydo-reductase pathway, which is itself part of Amino-acid degradation.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes glycine from L-threonine, the pathway L-threonine degradation via oxydo-reductase pathway and in Amino-acid degradation.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei159SubstrateBy similarity1
Binding sitei206Pyridoxal phosphateBy similarity1
Binding sitei389SubstrateBy similarity1

GO - Molecular functioni

  • glycine C-acetyltransferase activity Source: UniProtKB
  • pyridoxal phosphate binding Source: InterPro

GO - Biological processi

Keywordsi

Molecular functionAcyltransferase, Transferase
LigandPyridoxal phosphate

Enzyme and pathway databases

BioCyciMetaCyc:HS01980-MONOMER
ReactomeiR-HSA-8849175 Threonine catabolism
UniPathwayi
UPA00046;UER00506

Names & Taxonomyi

Protein namesi
Recommended name:
2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial (EC:2.3.1.29)
Short name:
AKB ligase
Alternative name(s):
Aminoacetone synthase
Glycine acetyltransferase
Gene namesi
Name:GCAT
Synonyms:KBL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100116.16
HGNCiHGNC:4188 GCAT
MIMi607422 gene
neXtProtiNX_O75600

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, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi23464
OpenTargetsiENSG00000100116
PharmGKBiPA28603

Chemistry databases

DrugBankiDB00145 Glycine
DB00114 Pyridoxal Phosphate

Polymorphism and mutation databases

BioMutaiGCAT

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 21MitochondrionBy similarityAdd BLAST21
ChainiPRO_000000124622 – 4192-amino-3-ketobutyrate coenzyme A ligase, mitochondrialAdd BLAST398

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei45N6-acetyllysine; alternateBy similarity1
Modified residuei45N6-succinyllysine; alternateBy similarity1
Modified residuei187N6-acetyllysine; alternateBy similarity1
Modified residuei187N6-succinyllysine; alternateBy similarity1
Modified residuei265N6-(pyridoxal phosphate)lysineCurated1
Modified residuei326N6-succinyllysineBy similarity1
Modified residuei368N6-succinyllysineBy similarity1
Modified residuei383N6-acetyllysine; alternateBy similarity1
Modified residuei383N6-succinyllysine; alternateBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiO75600
MaxQBiO75600
PeptideAtlasiO75600
PRIDEiO75600
ProteomicsDBi50106

PTM databases

iPTMnetiO75600
PhosphoSitePlusiO75600

Expressioni

Tissue specificityi

Strongly expressed in heart, brain, liver and pancreas. Also found in lung.1 Publication

Gene expression databases

BgeeiENSG00000100116 Expressed in 195 organ(s), highest expression level in body of pancreas
CleanExiHS_GCAT
ExpressionAtlasiO75600 baseline and differential
GenevisibleiO75600 HS

Organism-specific databases

HPAiHPA020460

Interactioni

Protein-protein interaction databases

BioGridi117027, 13 interactors
IntActiO75600, 4 interactors
MINTiO75600

Structurei

3D structure databases

ProteinModelPortaliO75600
SMRiO75600
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni134 – 135Pyridoxal phosphate bindingBy similarity2
Regioni262 – 265Pyridoxal phosphate bindingBy similarity4
Regioni295 – 296Pyridoxal phosphate binding; shared with dimeric partnerBy similarity2

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

GeneTreeiENSGT00530000063111
HOGENOMiHOG000221022
HOVERGENiHBG105208
InParanoidiO75600
KOiK00639
OMAiFGTIGEN
OrthoDBiEOG091G041D
PhylomeDBiO75600
TreeFamiTF105923

Family and domain databases

Gene3Di3.40.640.10, 1 hit
3.90.1150.10, 2 hits
HAMAPiMF_00985 2am3keto_CoA_ligase, 1 hit
InterProiView protein in InterPro
IPR011282 2am3keto_CoA_ligase
IPR001917 Aminotrans_II_pyridoxalP_BS
IPR004839 Aminotransferase_I/II
IPR015424 PyrdxlP-dep_Trfase
IPR015422 PyrdxlP-dep_Trfase_dom1
IPR015421 PyrdxlP-dep_Trfase_major
PANTHERiPTHR13693:SF60 PTHR13693:SF60, 1 hit
PfamiView protein in Pfam
PF00155 Aminotran_1_2, 1 hit
SUPFAMiSSF53383 SSF53383, 1 hit
TIGRFAMsiTIGR01822 2am3keto_CoA, 1 hit
PROSITEiView protein in PROSITE
PS00599 AA_TRANSFER_CLASS_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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O75600-1) [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
MWPGNAWRAA LFWVPRGRRA QSALAQLRGI LEGELEGIRG AGTWKSERVI
60 70 80 90 100
TSRQGPHIRV DGVSGGILNF CANNYLGLSS HPEVIQAGLQ ALEEFGAGLS
110 120 130 140 150
SVRFICGTQS IHKNLEAKIA RFHQREDAIL YPSCYDANAG LFEALLTPED
160 170 180 190 200
AVLSDELNHA SIIDGIRLCK AHKYRYRHLD MADLEAKLQE AQKHRLRLVA
210 220 230 240 250
TDGAFSMDGD IAPLQEICCL ASRYGALVFM DECHATGFLG PTGRGTDELL
260 270 280 290 300
GVMDQVTIIN STLGKALGGA SGGYTTGPGP LVSLLRQRAR PYLFSNSLPP
310 320 330 340 350
AVVGCASKAL DLLMGSNTIV QSMAAKTQRF RSKMEAAGFT ISGASHPICP
360 370 380 390 400
VMLGDARLAS RMADDMLKRG IFVIGFSYPV VPKGKARIRV QISAVHSEED
410
IDRCVEAFVE VGRLHGALP
Length:419
Mass (Da):45,285
Last modified:November 1, 1998 - v1
Checksum:iC7760699E0474821
GO
Isoform 2 (identifier: O75600-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     65-65: G → GGPGTVIFPGLPLPHLSCCIHLLSFTS

Note: No experimental confirmation available.Curated
Show »
Length:445
Mass (Da):47,974
Checksum:i5AD82BF1119ADC87
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9IZC9C9IZC9_HUMAN
2-amino-3-ketobutyrate coenzyme A l...
GCAT
177Annotation score:
H7BZ75H7BZ75_HUMAN
2-amino-3-ketobutyrate coenzyme A l...
GCAT
239Annotation score:
F2Z340F2Z340_HUMAN
2-amino-3-ketobutyrate coenzyme A l...
GCAT
91Annotation score:

Sequence cautioni

The sequence BAC85552 differs from that shown. Reason: Frameshift at position 232.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti387R → W in AAH14457 (PubMed:15489334).Curated1
Isoform 2 (identifier: O75600-2)
Sequence conflicti77L → S in BAC85552 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01509439R → C. Corresponds to variant dbSNP:rs710187Ensembl.1
Natural variantiVAR_048229100S → N. Corresponds to variant dbSNP:rs34468367Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04460765G → GGPGTVIFPGLPLPHLSCCI HLLSFTS in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF077740 mRNA Translation: AAC27720.1
AK123190 mRNA Translation: BAC85552.1 Frameshift.
Z97630 Genomic DNA No translation available.
BC014457 mRNA Translation: AAH14457.1
CCDSiCCDS13957.1 [O75600-1]
CCDS54527.1 [O75600-2]
RefSeqiNP_001165161.1, NM_001171690.1 [O75600-2]
NP_055106.1, NM_014291.3 [O75600-1]
XP_005261467.1, XM_005261410.3 [O75600-2]
XP_016884166.1, XM_017028677.1 [O75600-1]
UniGeneiHs.54609

Genome annotation databases

EnsembliENST00000248924; ENSP00000248924; ENSG00000100116 [O75600-1]
ENST00000323205; ENSP00000371110; ENSG00000100116 [O75600-2]
GeneIDi23464
KEGGihsa:23464
UCSCiuc003atz.4 human [O75600-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF077740 mRNA Translation: AAC27720.1
AK123190 mRNA Translation: BAC85552.1 Frameshift.
Z97630 Genomic DNA No translation available.
BC014457 mRNA Translation: AAH14457.1
CCDSiCCDS13957.1 [O75600-1]
CCDS54527.1 [O75600-2]
RefSeqiNP_001165161.1, NM_001171690.1 [O75600-2]
NP_055106.1, NM_014291.3 [O75600-1]
XP_005261467.1, XM_005261410.3 [O75600-2]
XP_016884166.1, XM_017028677.1 [O75600-1]
UniGeneiHs.54609

3D structure databases

ProteinModelPortaliO75600
SMRiO75600
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117027, 13 interactors
IntActiO75600, 4 interactors
MINTiO75600

Chemistry databases

DrugBankiDB00145 Glycine
DB00114 Pyridoxal Phosphate

PTM databases

iPTMnetiO75600
PhosphoSitePlusiO75600

Polymorphism and mutation databases

BioMutaiGCAT

Proteomic databases

EPDiO75600
MaxQBiO75600
PeptideAtlasiO75600
PRIDEiO75600
ProteomicsDBi50106

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000248924; ENSP00000248924; ENSG00000100116 [O75600-1]
ENST00000323205; ENSP00000371110; ENSG00000100116 [O75600-2]
GeneIDi23464
KEGGihsa:23464
UCSCiuc003atz.4 human [O75600-1]

Organism-specific databases

CTDi23464
DisGeNETi23464
EuPathDBiHostDB:ENSG00000100116.16
GeneCardsiGCAT
HGNCiHGNC:4188 GCAT
HPAiHPA020460
MIMi607422 gene
neXtProtiNX_O75600
OpenTargetsiENSG00000100116
PharmGKBiPA28603
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00530000063111
HOGENOMiHOG000221022
HOVERGENiHBG105208
InParanoidiO75600
KOiK00639
OMAiFGTIGEN
OrthoDBiEOG091G041D
PhylomeDBiO75600
TreeFamiTF105923

Enzyme and pathway databases

UniPathwayi
UPA00046;UER00506

BioCyciMetaCyc:HS01980-MONOMER
ReactomeiR-HSA-8849175 Threonine catabolism

Miscellaneous databases

GenomeRNAii23464
PROiPR:O75600
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100116 Expressed in 195 organ(s), highest expression level in body of pancreas
CleanExiHS_GCAT
ExpressionAtlasiO75600 baseline and differential
GenevisibleiO75600 HS

Family and domain databases

Gene3Di3.40.640.10, 1 hit
3.90.1150.10, 2 hits
HAMAPiMF_00985 2am3keto_CoA_ligase, 1 hit
InterProiView protein in InterPro
IPR011282 2am3keto_CoA_ligase
IPR001917 Aminotrans_II_pyridoxalP_BS
IPR004839 Aminotransferase_I/II
IPR015424 PyrdxlP-dep_Trfase
IPR015422 PyrdxlP-dep_Trfase_dom1
IPR015421 PyrdxlP-dep_Trfase_major
PANTHERiPTHR13693:SF60 PTHR13693:SF60, 1 hit
PfamiView protein in Pfam
PF00155 Aminotran_1_2, 1 hit
SUPFAMiSSF53383 SSF53383, 1 hit
TIGRFAMsiTIGR01822 2am3keto_CoA, 1 hit
PROSITEiView protein in PROSITE
PS00599 AA_TRANSFER_CLASS_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiKBL_HUMAN
AccessioniPrimary (citable) accession number: O75600
Secondary accession number(s): E2QC23, Q6ZWF1, Q96CA9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1998
Last modified: September 12, 2018
This is version 171 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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