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Protein

Branched-chain-amino-acid aminotransferase, cytosolic

Gene

BCAT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • aspartate biosynthetic process Source: GO_Central
  • branched-chain amino acid biosynthetic process Source: ProtInc
  • branched-chain amino acid catabolic process Source: Reactome
  • cell proliferation Source: ProtInc
  • G1/S transition of mitotic cell cycle Source: ProtInc
  • leucine biosynthetic process Source: GO_Central
  • valine biosynthetic process Source: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

Aminotransferase, Transferase

Keywords - Biological processi

Amino-acid biosynthesis, Branched-chain amino acid biosynthesis

Keywords - Ligandi

Pyridoxal phosphate

Enzyme and pathway databases

BioCyciZFISH:HS00753-MONOMER.
BRENDAi2.6.1.42. 2681.
ReactomeiR-HSA-70895. Branched-chain amino acid catabolism.
SABIO-RKP54687.

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

HGNCiHGNC:976. BCAT1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi586.
OpenTargetsiENSG00000060982.
PharmGKBiPA25288.

Chemistry databases

ChEMBLiCHEMBL4679.
DrugBankiDB00996. Gabapentin.
DB00167. L-Isoleucine.
DB00149. L-Leucine.
DB00161. L-Valine.

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.

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.
CleanExiHS_BCAT1.
ExpressionAtlasiP54687. baseline and differential.
GenevisibleiP54687. HS.

Organism-specific databases

HPAiHPA048592.

Interactioni

Subunit structurei

Homodimer.By similarity

Protein-protein interaction databases

BioGridi107061. 37 interactors.
IntActiP54687. 3 interactors.
MINTiMINT-1180265.
STRINGi9606.ENSP00000443459.

Chemistry databases

BindingDBiP54687.

Structurei

Secondary structure

1386
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi27 – 29Combined sources3
Helixi44 – 46Combined sources3
Turni49 – 51Combined sources3
Beta strandi55 – 63Combined sources9
Turni64 – 66Combined sources3
Beta strandi72 – 75Combined sources4
Beta strandi79 – 81Combined sources3
Helixi86 – 89Combined sources4
Beta strandi93 – 95Combined sources3
Beta strandi98 – 102Combined sources5
Beta strandi108 – 112Combined sources5
Helixi113 – 126Combined sources14
Helixi134 – 147Combined sources14
Helixi149 – 151Combined sources3
Beta strandi154 – 157Combined sources4
Beta strandi159 – 168Combined sources10
Beta strandi179 – 190Combined sources12
Beta strandi202 – 206Combined sources5
Helixi225 – 228Combined sources4
Helixi231 – 238Combined sources8
Turni239 – 241Combined sources3
Beta strandi243 – 249Combined sources7
Turni250 – 253Combined sources4
Beta strandi254 – 258Combined sources5
Beta strandi261 – 268Combined sources8
Beta strandi274 – 278Combined sources5
Beta strandi282 – 285Combined sources4
Helixi289 – 301Combined sources13
Beta strandi303 – 308Combined sources6
Helixi313 – 320Combined sources8
Turni321 – 323Combined sources3
Beta strandi325 – 332Combined sources8
Turni333 – 335Combined sources3
Beta strandi336 – 351Combined sources16
Helixi353 – 357Combined sources5
Helixi360 – 373Combined sources14
Beta strandi382 – 384Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2ABJX-ray2.20A/D/G/J21-386[»]
2COGX-ray2.10A/B1-386[»]
2COIX-ray1.90A/B1-386[»]
2COJX-ray2.40A/B1-386[»]
ProteinModelPortaliP54687.
SMRiP54687.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP54687.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

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

Family and domain databases

CDDicd01557. BCAT_beta_family. 1 hit.
InterProiIPR001544. Aminotrans_IV.
IPR018300. Aminotrans_IV_CS.
IPR005786. B_amino_transII.
IPR033939. BCAT_family.
[Graphical view]
PANTHERiPTHR11825. PTHR11825. 1 hit.
PfamiPF01063. Aminotran_4. 1 hit.
[Graphical view]
PIRSFiPIRSF006468. BCAT1. 1 hit.
SUPFAMiSSF56752. SSF56752. 1 hit.
TIGRFAMsiTIGR01123. ilvE_II. 1 hit.
PROSITEiPS00770. AA_TRANSFER_CLASS_4. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

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

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

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 rs17374285dbSNPEnsembl.1
Natural variantiVAR_019614321E → K.Corresponds to variant rs7313020dbSNPEnsembl.1
Natural variantiVAR_047682330G → S.1 PublicationCorresponds to variant rs1057204dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2ABJX-ray2.20A/D/G/J21-386[»]
2COGX-ray2.10A/B1-386[»]
2COIX-ray1.90A/B1-386[»]
2COJX-ray2.40A/B1-386[»]
ProteinModelPortaliP54687.
SMRiP54687.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107061. 37 interactors.
IntActiP54687. 3 interactors.
MINTiMINT-1180265.
STRINGi9606.ENSP00000443459.

Chemistry databases

BindingDBiP54687.
ChEMBLiCHEMBL4679.
DrugBankiDB00996. Gabapentin.
DB00167. L-Isoleucine.
DB00149. L-Leucine.
DB00161. L-Valine.

PTM databases

iPTMnetiP54687.
PhosphoSitePlusiP54687.

Polymorphism and mutation databases

BioMutaiBCAT1.
DMDMi215274162.

Proteomic databases

EPDiP54687.
MaxQBiP54687.
PaxDbiP54687.
PeptideAtlasiP54687.
PRIDEiP54687.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi586.
DisGeNETi586.
GeneCardsiBCAT1.
HGNCiHGNC:976. BCAT1.
HPAiHPA048592.
MIMi113520. gene.
neXtProtiNX_P54687.
OpenTargetsiENSG00000060982.
PharmGKBiPA25288.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:HS00753-MONOMER.
BRENDAi2.6.1.42. 2681.
ReactomeiR-HSA-70895. Branched-chain amino acid catabolism.
SABIO-RKP54687.

Miscellaneous databases

ChiTaRSiBCAT1. human.
EvolutionaryTraceiP54687.
GenomeRNAii586.
PROiP54687.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000060982.
CleanExiHS_BCAT1.
ExpressionAtlasiP54687. baseline and differential.
GenevisibleiP54687. HS.

Family and domain databases

CDDicd01557. BCAT_beta_family. 1 hit.
InterProiIPR001544. Aminotrans_IV.
IPR018300. Aminotrans_IV_CS.
IPR005786. B_amino_transII.
IPR033939. BCAT_family.
[Graphical view]
PANTHERiPTHR11825. PTHR11825. 1 hit.
PfamiPF01063. Aminotran_4. 1 hit.
[Graphical view]
PIRSFiPIRSF006468. BCAT1. 1 hit.
SUPFAMiSSF56752. SSF56752. 1 hit.
TIGRFAMsiTIGR01123. ilvE_II. 1 hit.
PROSITEiPS00770. AA_TRANSFER_CLASS_4. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBCAT1_HUMAN
AccessioniPrimary (citable) accession number: P54687
Secondary accession number(s): B3KY27
, B7Z2M5, B7Z5L0, F5H5E4, Q68DQ7, Q96MY9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 25, 2008
Last modified: November 30, 2016
This is version 167 of the entry and version 3 of the sequence. [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

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.