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Protein

Branched-chain-amino-acid aminotransferase, cytosolic

Gene

BCAT1

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

Functioni

Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine.

Catalytic activityi

L-leucine + 2-oxoglutarate = 4-methyl-2-oxopentanoate + L-glutamate.
L-isoleucine + 2-oxoglutarate = (S)-3-methyl-2-oxopentanoate + L-glutamate.
L-valine + 2-oxoglutarate = 3-methyl-2-oxobutanoate + L-glutamate.

Cofactori

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionAminotransferase, Transferase
Biological processAmino-acid biosynthesis, Branched-chain amino acid biosynthesis
LigandPyridoxal phosphate

Enzyme and pathway databases

BRENDAi2.6.1.42 2681
ReactomeiR-HSA-70895 Branched-chain amino acid catabolism
SABIO-RKiP54687

Names & Taxonomyi

Protein namesi
Recommended name:
Branched-chain-amino-acid aminotransferase, cytosolic (EC:2.6.1.42)
Short name:
BCAT(c)
Alternative name(s):
Protein ECA39
Gene namesi
Name:BCAT1
Synonyms:BCT1, ECA39
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000060982.14
HGNCiHGNC:976 BCAT1
MIMi113520 gene
neXtProtiNX_P54687

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

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi586
OpenTargetsiENSG00000060982
PharmGKBiPA25288

Chemistry databases

ChEMBLiCHEMBL4679
DrugBankiDB00996 Gabapentin
DB00142 L-Glutamic Acid
DB00167 L-Isoleucine
DB00149 L-Leucine
DB00161 L-Valine
DB07544 N'-(5-CHLOROBENZOFURAN-2-CARBONYL)-2-(TRIFLUOROMETHYL)BENZENESULFONOHYDRAZIDE
DB00114 Pyridoxal Phosphate

Polymorphism and mutation databases

BioMutaiBCAT1
DMDMi215274162

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001032921 – 386Branched-chain-amino-acid aminotransferase, cytosolicAdd BLAST386

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei222N6-(pyridoxal phosphate)lysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP54687
MaxQBiP54687
PaxDbiP54687
PeptideAtlasiP54687
PRIDEiP54687
ProteomicsDBi56691
56692 [P54687-2]
56693 [P54687-3]
56694 [P54687-4]

PTM databases

iPTMnetiP54687
PhosphoSitePlusiP54687

Expressioni

Tissue specificityi

During embryogenesis, expressed in the brain and kidney. Overexpressed in MYC-induced tumors such as Burkitt's lymphoma.

Gene expression databases

BgeeiENSG00000060982 Expressed in 195 organ(s), highest expression level in visceral pleura
CleanExiHS_BCAT1
ExpressionAtlasiP54687 baseline and differential
GenevisibleiP54687 HS

Organism-specific databases

HPAiHPA048592

Interactioni

Subunit structurei

Homodimer.By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107061, 39 interactors
IntActiP54687, 3 interactors
MINTiP54687
STRINGi9606.ENSP00000443459

Chemistry databases

BindingDBiP54687

Structurei

Secondary structure

1386
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP54687
SMRiP54687
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP54687

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG0975 Eukaryota
COG0115 LUCA
GeneTreeiENSGT00390000009532
HOGENOMiHOG000276704
HOVERGENiHBG050678
InParanoidiP54687
KOiK00826
OMAiNFFGITH
OrthoDBiEOG091G07KO
PhylomeDBiP54687
TreeFamiTF300882

Family and domain databases

CDDicd01557 BCAT_beta_family, 1 hit
InterProiView protein in InterPro
IPR001544 Aminotrans_IV
IPR018300 Aminotrans_IV_CS
IPR036038 Aminotransferase-like
IPR005786 B_amino_transII
IPR033939 BCAT_family
PfamiView protein in Pfam
PF01063 Aminotran_4, 1 hit
PIRSFiPIRSF006468 BCAT1, 1 hit
SUPFAMiSSF56752 SSF56752, 1 hit
TIGRFAMsiTIGR01123 ilvE_II, 1 hit
PROSITEiView protein in PROSITE
PS00770 AA_TRANSFER_CLASS_4, 1 hit

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 2 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: P54687-1) [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
MKDCSNGCSA ECTGEGGSKE VVGTFKAKDL IVTPATILKE KPDPNNLVFG
60 70 80 90 100
TVFTDHMLTV EWSSEFGWEK PHIKPLQNLS LHPGSSALHY AVELFEGLKA
110 120 130 140 150
FRGVDNKIRL FQPNLNMDRM YRSAVRATLP VFDKEELLEC IQQLVKLDQE
160 170 180 190 200
WVPYSTSASL YIRPTFIGTE PSLGVKKPTK ALLFVLLSPV GPYFSSGTFN
210 220 230 240 250
PVSLWANPKY VRAWKGGTGD CKMGGNYGSS LFAQCEAVDN GCQQVLWLYG
260 270 280 290 300
EDHQITEVGT MNLFLYWINE DGEEELATPP LDGIILPGVT RRCILDLAHQ
310 320 330 340 350
WGEFKVSERY LTMDDLTTAL EGNRVREMFG SGTACVVCPV SDILYKGETI
360 370 380
HIPTMENGPK LASRILSKLT DIQYGREESD WTIVLS
Length:386
Mass (Da):42,966
Last modified:November 25, 2008 - v3
Checksum:iA43535303A702512
GO
Isoform 2 (identifier: P54687-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-25: MKDCSNGCSAECTGEGGSKEVVGTF → M
     94-130: Missing.

Note: No experimental confirmation available.
Show »
Length:325
Mass (Da):36,298
Checksum:iFDC0B4CC0356E91D
GO
Isoform 3 (identifier: P54687-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     94-130: Missing.

Note: No experimental confirmation available.
Show »
Length:349
Mass (Da):38,645
Checksum:i1179C4AB4AD1B455
GO
Isoform 4 (identifier: P54687-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2: MK → M

Note: No experimental confirmation available.
Show »
Length:385
Mass (Da):42,838
Checksum:i4713DD9AF2134746
GO
Isoform 5 (identifier: P54687-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2: MK → MASPLRSAAALARQ

Note: No experimental confirmation available.
Show »
Length:398
Mass (Da):44,131
Checksum:i39780ADB0CF85D5A
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WYF2A0A087WYF2_HUMAN
Branched-chain-amino-acid aminotran...
BCAT1
225Annotation score:
F5H2F2F5H2F2_HUMAN
Branched-chain-amino-acid aminotran...
BCAT1
144Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti2Missing in AAB08528 (PubMed:8692959).Curated1
Sequence conflicti8Missing in AAB08528 (PubMed:8692959).Curated1
Sequence conflicti165T → A in AAB08528 (PubMed:8692959).Curated1
Sequence conflicti237A → D in AAB08528 (PubMed:8692959).Curated1
Sequence conflicti251E → R in AAB08528 (PubMed:8692959).Curated1
Sequence conflicti300Q → P in BAH11911 (PubMed:14702039).Curated1
Sequence conflicti317T → S in BAB71129 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04768159T → M. Corresponds to variant dbSNP:rs17374285Ensembl.1
Natural variantiVAR_019614321E → K. Corresponds to variant dbSNP:rs7313020Ensembl.1
Natural variantiVAR_047682330G → S1 PublicationCorresponds to variant dbSNP:rs1057204Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0426511 – 25MKDCS…VVGTF → M in isoform 2. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_0435601 – 2MK → M in isoform 4. 1 Publication2
Alternative sequenceiVSP_0460571 – 2MK → MASPLRSAAALARQ in isoform 5. 1 Publication2
Alternative sequenceiVSP_04265294 – 130Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST37

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U21551 mRNA Translation: AAB08528.1
AK056255 mRNA Translation: BAB71129.1
AK128527 mRNA Translation: BAG54689.1
AK294879 mRNA Translation: BAH11911.1
AK299088 mRNA Translation: BAH12946.1
CR749308 mRNA Translation: CAH18163.1
AC023796 Genomic DNA No translation available.
AC026310 Genomic DNA No translation available.
AC092867 Genomic DNA No translation available.
CCDSiCCDS44845.1 [P54687-1]
CCDS53760.1 [P54687-4]
CCDS53761.1 [P54687-5]
CCDS53762.1 [P54687-2]
CCDS53763.1 [P54687-3]
RefSeqiNP_001171562.1, NM_001178091.1 [P54687-3]
NP_001171563.1, NM_001178092.1 [P54687-2]
NP_001171564.1, NM_001178093.1 [P54687-5]
NP_001171565.1, NM_001178094.1 [P54687-4]
NP_005495.2, NM_005504.6 [P54687-1]
UniGeneiHs.438993

Genome annotation databases

EnsembliENST00000261192; ENSP00000261192; ENSG00000060982 [P54687-1]
ENST00000342945; ENSP00000339805; ENSG00000060982 [P54687-2]
ENST00000538118; ENSP00000440817; ENSG00000060982 [P54687-4]
ENST00000539282; ENSP00000443459; ENSG00000060982 [P54687-5]
ENST00000539780; ENSP00000440827; ENSG00000060982 [P54687-3]
GeneIDi586
KEGGihsa:586
UCSCiuc001rgc.4 human [P54687-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiBCAT1_HUMAN
AccessioniPrimary (citable) accession number: P54687
Secondary accession number(s): B3KY27
, B7Z2M5, B7Z5L0, F5H5E4, Q68DQ7, Q96MY9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 25, 2008
Last modified: September 12, 2018
This is version 177 of the entry and version 3 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, Reference proteome
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Main funding by: National Institutes of Health

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