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This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-... See more...
Aliases for BCAT1 Gene
Aliases for BCAT1 Gene
External Ids for BCAT1 Gene
- HGNC: 976
- Entrez Gene: 586
- Ensembl: ENSG00000060982
- OMIM: 113520
- UniProtKB: P54687
Previous HGNC Symbols for BCAT1 Gene
- BCT1
Previous GeneCards Identifiers for BCAT1 Gene
- GC12M025327
- GC12M024982
- GC12M024868
- GC12M024861
- GC12M024855
Summaries for BCAT1 Gene
-
This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]
GeneCards Summary for BCAT1 Gene
BCAT1 (Branched Chain Amino Acid Transaminase 1) is a Protein Coding gene. Diseases associated with BCAT1 include Hyperleucine-Isoleucinemia and Hypervalinemia And Hyperleucine-Isoleucinemia. Among its related pathways are Valine, leucine and isoleucine degradation and Pantothenate and CoA biosynthesis. Gene Ontology (GO) annotations related to this gene include identical protein binding and L-leucine transaminase activity. An important paralog of this gene is BCAT2.
UniProtKB/Swiss-Prot Summary for BCAT1 Gene
-
Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine.
Additional gene information for BCAT1 Gene
- HGNC(976)
- Entrez Gene(586)
- Ensembl(ENSG00000060982)
- OMIM(113520)
- UniProtKB(P54687)
- Open Targets Platform(ENSG00000060982)
- Monarch Initiative
- Search for BCAT1 at DataMed
- Search for BCAT1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BCAT1 Gene
Genomics for BCAT1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for BCAT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around BCAT1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BCAT1
- Top Transcription factor binding sites by QIAGEN in the BCAT1 gene promoter:
-
- AML1a
- FOXO1
- FOXO1a
- IRF-7A
Genomic Locations for BCAT1 Gene
Genomic Locations for BCAT1 Gene
- chr12:24,810,024-24,949,101
- (GRCh38/hg38)
- Size:
- 139,078 bases
- Orientation:
- Minus strand
- chr12:24,962,958-25,102,393
- (GRCh37/hg19)
- Size:
- 139,436 bases
- Orientation:
- Minus strand
Genomic View for BCAT1 Gene
Genes around BCAT1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p12.1 by HGNC
- 12p12.1 by Entrez Gene
- 12p12.1 by Ensembl
BCAT1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BCAT1 Gene
Proteins for BCAT1 Gene
-
Protein details for BCAT1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P54687-BCAT1_HUMAN
- Recommended name:
- Branched-chain-amino-acid aminotransferase, cytosolic
- Protein Accession:
- P54687
- B3KY27
- B7Z2M5
- B7Z5L0
- F5H5E4
- Q68DQ7
- Q96MY9
Protein attributes for BCAT1 Gene
- Size:
- 386 amino acids
- Molecular mass:
- 42966 Da
- Cofactor:
- Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
- Quaternary structure:
-
- Homodimer.
Three dimensional structures from OCA and Proteopedia for BCAT1 Gene
Protein Expression for BCAT1 Gene
Selected DME Specific Peptides for BCAT1 Gene
- P54687:
-
- EMFGSGTACVV
- EWVPYSTSASLYIRPTFIG
- GDCKMGGNY
- ELATPPLDGIILPGV
- ILPGVTR
- TEVGTMN
- PVSLWANPK
Post-translational modifications for BCAT1 Gene
Other Protein References for BCAT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- NSJ Bioreagents BCAT1 Antibody
- Creative Diagnostics Anti-BCAT1 monoclonal antibody
- HUABIO Anti-BCAT1 Antibody
- Novus Biologicals Antibodies for BCAT1
-
Abcam antibodies for BCAT1
- Invitrogen Antibodies for BCAT1 (AFLGC-Bcat1)
-
Santa Cruz Biotechnology (SCBT) Antibodies for BCAT1
- Sino Biological Antibodies for BCAT1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for BCAT1
- Origene Custom Protein Services for BCAT1
- Novus Biologicals lysates for BCAT1
- ProSpec Recombinant Proteins for BCAT1
-
Signalway Proteins for BCAT1
-
Abcam proteins for BCAT1
Domains & Families for BCAT1 Gene
Gene Families for BCAT1 Gene
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for BCAT1 Gene
- InterPro:
- Blocks:
-
- Aminotransferase, class IV
- ProtoNet:
Suggested Antigen Peptide Sequences for BCAT1 Gene
- GenScript: Design optimal peptide antigens:
-
- Branched-chain-amino-acid aminotransferase (B3KY27_HUMAN)
- Branched-chain-amino-acid aminotransferase (B7Z5L0_HUMAN)
- Protein ECA39 (BCAT1_HUMAN)
- Branched-chain-amino-acid aminotransferase (F5H5E4_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P54687UniProtKB/Swiss-Prot:
BCAT1_HUMAN :- Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family.
- Family:
-
- Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family.
Function for BCAT1 Gene
Molecular function for BCAT1 Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-oxoglutarate + L-leucine = 4-methyl-2-oxopentanoate + L-glutamate; Xref=Rhea:RHEA:18321, ChEBI:CHEBI:16810, ChEBI:CHEBI:17865, ChEBI:CHEBI:29985, ChEBI:CHEBI:57427; EC=2.6.1.42;.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-oxoglutarate + L-isoleucine = (S)-3-methyl-2-oxopentanoate + L-glutamate; Xref=Rhea:RHEA:24801, ChEBI:CHEBI:16810, ChEBI:CHEBI:29985, ChEBI:CHEBI:35146, ChEBI:CHEBI:58045; EC=2.6.1.42;.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-oxoglutarate + L-valine = 3-methyl-2-oxobutanoate + L-glutamate; Xref=Rhea:RHEA:24813, ChEBI:CHEBI:11851, ChEBI:CHEBI:16810, ChEBI:CHEBI:29985, ChEBI:CHEBI:57762; EC=2.6.1.42;.
- GENATLAS Biochemistry:
- branched chain aminotransferase 1,cytosolic and mitochondrial
Enzyme Numbers (IUBMB) for BCAT1 Gene
Phenotypes From GWAS Catalog for BCAT1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0004084 | branched-chain-amino-acid transaminase activity | TAS,IBA | 21873635 |
| GO:0008483 | transaminase activity | IEA | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0042802 | identical protein binding | IEA | -- |
Phenotypes for BCAT1 Gene
- MGI mutant phenotypes for BCAT1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for BCAT1:
Animal Models for BCAT1 Gene
- MGI Knock Outs for BCAT1:
-
- Bcat1 Bcat1<tm1.2Eaa>
Animal Model Products
-
Taconic Biosciences Mouse Models for BCAT1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BCAT1 - Select products 50% OFF >
- * BCAT1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for BCAT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BCAT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for BCAT1
miRNA for BCAT1 Gene
- miRTarBase miRNAs that target BCAT1
-
- hsa-miR-155-5p (MIRT004088)
- hsa-miR-32-5p (MIRT028360)
- hsa-miR-21-5p (MIRT030880)
- hsa-miR-769-5p (MIRT039195)
- hsa-let-7b-5p (MIRT052293)
- hsa-let-7a-5p (MIRT052384)
- hsa-miR-5010-3p (MIRT480920)
- hsa-miR-2113 (MIRT480921)
- hsa-miR-3692-3p (MIRT480922)
- hsa-miR-4752 (MIRT480923)
- hsa-miR-6833-5p (MIRT480924)
- hsa-miR-3190-3p (MIRT480925)
- hsa-miR-593-5p (MIRT480926)
- hsa-miR-6077 (MIRT480927)
- hsa-miR-7-5p (MIRT480928)
- hsa-miR-7113-5p (MIRT480929)
- hsa-miR-140-3p (MIRT480930)
- hsa-miR-4328 (MIRT480931)
- hsa-miR-211-3p (MIRT480932)
- hsa-miR-4733-3p (MIRT480933)
- hsa-miR-6753-5p (MIRT480934)
- hsa-miR-106a-3p (MIRT508006)
- hsa-miR-137 (MIRT508007)
- hsa-miR-3152-3p (MIRT508008)
- hsa-miR-5589-3p (MIRT508009)
- hsa-miR-92b-3p (MIRT508010)
- hsa-miR-92a-3p (MIRT508011)
- hsa-miR-367-3p (MIRT508012)
- hsa-miR-363-3p (MIRT508013)
- hsa-miR-25-3p (MIRT508014)
- hsa-miR-5583-5p (MIRT508015)
- hsa-miR-3129-3p (MIRT508016)
- hsa-miR-548j-3p (MIRT508017)
- hsa-miR-548x-3p (MIRT508018)
- hsa-miR-548aq-3p (MIRT508019)
- hsa-miR-548am-3p (MIRT508020)
- hsa-miR-548aj-3p (MIRT508021)
- hsa-miR-548ah-3p (MIRT508022)
- hsa-miR-548ae-3p (MIRT508023)
- hsa-miR-548z (MIRT508024)
- hsa-miR-548h-3p (MIRT508025)
- hsa-miR-548d-3p (MIRT508026)
- hsa-miR-548bb-3p (MIRT508027)
- hsa-miR-548ac (MIRT508028)
- mmu-miR-125a-3p (MIRT584595)
- mmu-miR-712-5p (MIRT587881)
- mmu-miR-1936 (MIRT604341)
- hsa-miR-4778-3p (MIRT660340)
- hsa-miR-4653-5p (MIRT660341)
- hsa-miR-3921 (MIRT660342)
- hsa-miR-301b-5p (MIRT660343)
- hsa-miR-301a-5p (MIRT660344)
- hsa-miR-146a-3p (MIRT660345)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BCAT1
- Browse OriGene Inhibitory RNA Products For BCAT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCAT1
Clone Products
- Applied Biological Materials (abm): Clones for BCAT1 - Select products 50% OFF >
- * BCAT1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG206032
- MG218043
- MR206032
- MR206032L3
- MR206032L4
- MR218043
- MR218043L3
- MR218043L4
- RC219229
- RC219229L1
- RC219229L2
- RC219229L3
- RC219229L4
- RC229891
- RC229891L3
- RC229891L4
- RC229924
- RC229924L3
- RC229924L4
- RC229972
- RC229972L1
- RC229972L2
- RC229972L3
- RC229972L4
- RC229999
- RC229999L3
- RC229999L4
- RG219229
- RG229891
- RG229924
- RG229972
- RG229999
- RR214913
- RR214913L3
- RR214913L4
- MR206032L3V
- MR206032L4V
- MR218043L3V
- MR218043L4V
- RC219229L1V
- RC219229L2V
- RC219229L3V
- RC219229L4V
- RC229891L3V
- RC229891L4V
- RC229924L3V
- RC229924L4V
- RC229972L1V
- RC229972L2V
- RC229972L3V
- RC229972L4V
- RC229999L3V
- RC229999L4V
- RR214913L3V
- RR214913L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for BCAT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BCAT1
Cell Line Products
-
Horizon Cell Lines for BCAT1
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BCAT1 Gene
Localization for BCAT1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BCAT1 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| mitochondrion | 4 |
| nucleus | 3 |
| extracellular | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005739 | mitochondrion | IBA | 21873635 |
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for BCAT1 Gene
Pathways & Interactions for BCAT1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Valine, leucine and isoleucine degradation | ||
| 2 | Carbon metabolism | ||
| 3 | Sulfur amino acid metabolism | ||
| 4 | Metabolism |
.40
|
|
| 5 | Glucose / Energy Metabolism | ||
Pathways by source for BCAT1 Gene
5 BioSystems pathways for BCAT1 Gene
3 Reactome pathways for BCAT1 Gene
7 KEGG pathways for BCAT1 Gene
1 Cell Signaling Technology pathway for BCAT1 Gene
Interacting Proteins for BCAT1 Gene
Selected Interacting proteins:
P54687-BCAT1_HUMAN
ENSP00000443459
for BCAT1 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for BCAT1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000082 | G1/S transition of mitotic cell cycle | TAS | 8692959 |
| GO:0008652 | cellular amino acid biosynthetic process | IEA | -- |
| GO:0009081 | branched-chain amino acid metabolic process | IEA | -- |
| GO:0009082 | branched-chain amino acid biosynthetic process | TAS | 6933702 |
| GO:0009083 | branched-chain amino acid catabolic process | TAS | -- |
No data available for SIGNOR curated interactions for BCAT1 Gene
Drugs & Compounds for BCAT1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Valine | Approved | Nutra | Target, Enzyme, substrate | 40 | ||
| Gabapentin | Approved, Investigational | Pharma | Enzyme, inhibitor | GABA enhancer | 407 | |
| Glutamic acid | Approved | Nutra | Agonist, Full agonist, Target | 304 | ||
| Pyridoxal Phosphate | Approved, Investigational | Nutra | Target, cofactor | 16 | ||
| Famotidine | Approved | Pharma | Histamine H2-receptor antagonist | 82 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 3-Methyl-2-oxovaleric acid |
|
1460-34-0 |
|
|||
| Ketoleucine |
|
816-66-0 |
|
Transcripts for BCAT1 Gene
mRNA/cDNA for BCAT1 Gene
- 5 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000261192 9314 nts (view in UCSC)
- ENST00000538118 4694 nts (view in UCSC)
- ENST00000342945 4319 nts (view in UCSC)
- ENST00000539282 1811 nts (view in UCSC)
- ENST00000543099 568 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BCAT1 - Select products 50% OFF >
- * BCAT1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for BCAT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BCAT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for BCAT1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BCAT1
- Browse OriGene Inhibitory RNA Products For BCAT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCAT1
Clone Products
- Applied Biological Materials (abm): Clones for BCAT1 - Select products 50% OFF >
- * BCAT1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG206032
- MG218043
- MR206032
- MR206032L3
- MR206032L4
- MR218043
- MR218043L3
- MR218043L4
- RC219229
- RC219229L1
- RC219229L2
- RC219229L3
- RC219229L4
- RC229891
- RC229891L3
- RC229891L4
- RC229924
- RC229924L3
- RC229924L4
- RC229972
- RC229972L1
- RC229972L2
- RC229972L3
- RC229972L4
- RC229999
- RC229999L3
- RC229999L4
- RG219229
- RG229891
- RG229924
- RG229972
- RG229999
- RR214913
- RR214913L3
- RR214913L4
- MR206032L3V
- MR206032L4V
- MR218043L3V
- MR218043L4V
- RC219229L1V
- RC219229L2V
- RC219229L3V
- RC219229L4V
- RC229891L3V
- RC229891L4V
- RC229924L3V
- RC229924L4V
- RC229972L1V
- RC229972L2V
- RC229972L3V
- RC229972L4V
- RC229999L3V
- RC229999L4V
- RR214913L3V
- RR214913L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for BCAT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BCAT1
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||||
| SP8: | - |
Relevant External Links for BCAT1 Gene
- GeneLoc Exon Structure for
- BCAT1
Expression for BCAT1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Mesenchymal Stem Cells (Uncategorized)
- Umbilical Cord (Extraembryonic Tissues)
- Blood (Cardiovascular System)
- Neural Tube (Nervous System)
-
Yolk Sac (Extraembryonic Tissues)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
-
Inner Cell Mass (Early Embryonic Tissues)
- Inner Cell Mass Cells Inner Cell Mass
- Brain (Nervous System)
-
Testis (Reproductive System)
-
Ovary (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for BCAT1 Gene
This gene is overexpressed in Pancreas (x6.2).
This gene is overexpressed in Bone marrow stromal cell (14.1), Testis (13.4), and Retina (10.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BCAT1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BCAT1
SOURCE GeneReport for Unigene cluster for BCAT1 Gene:
Hs.438993mRNA Expression by UniProt/SwissProt for BCAT1 Gene:
P54687-BCAT1_HUMAN
Tissue specificity:
During embryogenesis, expressed in the brain and kidney. Overexpressed in MYC-induced tumors such as Burkitt's lymphoma.
Evidence on tissue expression from TISSUES for BCAT1 Gene
- Nervous system(4.7)
- Muscle(2.3)
- Intestine(2.3)
- Blood(2.3)
- Pancreas(2.3)
- Lung(2.2)
- Liver(2.1)
- Heart(2.1)
- Skin(2.1)
Primer Products
-
OriGene qPCR primer pairs for BCAT1
-
OriGene qPCR primer pairs and template standards for BCAT1
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BCAT1 Gene
Orthologs for BCAT1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | BCAT1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | BCAT1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | BCAT1 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | BCAT1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | BCAT1 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Bcat1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Bcat1 30 |
|
||
| Chicken (Gallus gallus) |
Aves | BCAT1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | BCAT1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bcat1 30 |
|
||
| Str.15554 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.14452 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | bcat1 30 31 |
|
OneToOne | |
| wufj66g02 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG1673 30 31 32 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000011 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | bcat-1 30 31 |
|
ManyToMany | |
| Y44A6D.5 31 32 |
|
ManyToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BAT2 30 31 33 |
|
ManyToMany | |
| BAT1 31 |
|
ManyToMany | |||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADL384W 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ATBCAT-5 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os05g0558400 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7238 31 |
|
OneToMany |
- Species where no ortholog for BCAT1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for BCAT1 Gene
- ENSEMBL:
- Gene Tree for BCAT1 (if available)
- TreeFam:
- Gene Tree for BCAT1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for BCAT1: view image
Paralogs for BCAT1 Gene
Variants for BCAT1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BCAT1 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 718749 | Benign: not provided | 24,901,853(-) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
| 750233 | Likely Benign: not provided | 24,901,835(-) | T/C | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
| 757514 | Likely Benign: not provided | 24,832,804(-) | C/T | SYNONYMOUS_VARIANT | |
| rs1057204 | - | p.Gly330Ser | |||
| rs17374285 | - | p.Thr59Met |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2412n54 | CNV | gain | 21841781 |
| esv2422312 | CNV | duplication | 17116639 |
| esv2667659 | CNV | deletion | 23128226 |
| esv3580195 | CNV | loss | 25503493 |
| esv3628881 | CNV | loss | 21293372 |
| esv3628883 | CNV | loss | 21293372 |
| esv3628884 | CNV | loss | 21293372 |
| nsv469169 | CNV | gain | 19166990 |
| nsv469173 | CNV | gain | 19166990 |
| nsv520878 | CNV | loss | 19592680 |
| nsv525641 | CNV | gain | 19592680 |
| nsv557775 | CNV | gain | 21841781 |
| nsv557794 | CNV | gain | 21841781 |
| nsv646 | CNV | insertion | 18451855 |
| nsv819279 | CNV | loss | 19587683 |
| nsv826283 | CNV | loss | 20364138 |
| nsv832353 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.09;
22.24% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BCAT1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCAT1 Gene
Disorders for BCAT1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hyperleucine-isoleucinemia |
|
|
| hypervalinemia and hyperleucine-isoleucinemia |
|
|
| maple syrup urine disease |
|
|
Search BCAT1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for BCAT1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for BCAT1 Gene
Publications for BCAT1 Gene
- Structural determinants for branched-chain aminotransferase isozyme-specific inhibition by the anticonvulsant drug gabapentin. (PMID: 16141215) Goto M … Hutson SM (The Journal of biological chemistry 2005) 3 4 23
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
- A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 41
ExternalLinks
Products for BCAT1 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
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- OriGene qPCR primer pairs for BCAT1
- OriGene qPCR primer pairs and template standards for BCAT1
- OriGene CRISPR knockouts for BCAT1
- MG206032
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- RC229999L3V
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- RR214913L3V
- RR214913L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For BCAT1
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- Sino Biological Antibodies for BCAT1
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for BCAT1
- Novus Biologicals lysates for BCAT1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
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- Abcam antibodies for BCAT1
- Abcam proteins for BCAT1
- Find your target
- Browse Primary Antibodies
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- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for BCAT1
- Taconic Biosciences Mouse Models for BCAT1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for BCAT1 (AFLGC-Bcat1)
- VectorBuilder Custom and pre-made DNA vectors for BCAT1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for BCAT1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for BCAT1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for BCAT1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for BCAT1
- antibodies-online: Show 48 available BCAT1 Antibodies ranked by validation data
- Compare Top BCAT1 Antibodies
- antibodies-online: Search results for available BCAT1 related products ranked by validation data
- antibodies-online: Show 15 available BCAT1 Proteins ranked by validation data
- Compare Top BCAT1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for BCAT1
- Search Santa Cruz Biotechnology (SCBT) for BCAT1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for BCAT1
- Horizon Cell Lines for BCAT1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BCAT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BCAT1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for BCAT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCAT1
- Signalway Proteins for BCAT1
Sources for BCAT1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB