Gcat glycine C-acetyltransferase (2-amino-3-ketobutyrate-coenzyme A ligase) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gcatprovided by MGI
Official Full Name: glycine C-acetyltransferase (2-amino-3-ketobutyrate-coenzyme A ligase)provided by MGI
Primary source: MGI:MGI:1349389
See related: Ensembl:ENSMUSG00000006378 Ensembl:ENSMUSG00000116378 AllianceGenome:MGI:1349389
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Kbl
Summary: Predicted to enable glycine C-acetyltransferase activity and pyridoxal phosphate binding activity. Predicted to be involved in L-threonine catabolic process to glycine and biosynthetic process. Located in mitochondrial inner membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Orthologous to human GCAT (glycine C-acetyltransferase). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in liver adult (RPKM 64.2), placenta adult (RPKM 46.0) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 E1; 15 37.7 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (78915074..78926731)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (79030874..79042531)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Nuclear translocation of 2-amino-3-ketobutyrate coenzyme A ligase (KBL) was detected in response to cold and osmotic stresses.
Title: Nuclear translocation of 2-amino-3-ketobutyrate coenzyme A ligase by cold and osmotic stress.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Gcat (e-PCR), detects polymorphism
- UniSTS:506931

AI526977 (e-PCR)
- UniSTS:165944

H1f0 (e-PCR), detects polymorphism
- UniSTS:143298

U18295 (e-PCR)
- UniSTS:186317

PMC117216P2 (e-PCR)
- UniSTS:270321

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables glycine C-acetyltransferase activity	IEA Inferred from Electronic Annotation more info
enables molecular_function	ND No biological Data available more info
enables pyridoxal phosphate binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in L-threonine catabolic process to glycine	IEA Inferred from Electronic Annotation more info
involved_in biological_process	ND No biological Data available more info
involved_in biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	HDA more info	PubMed
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial

Names: AKB ligase; aminoacetone synthase; glycine acetyltransferase

NP_001155184.1

EC 2.3.1.29

NP_038875.3

EC 2.3.1.29

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001161712.1 → NP_001155184.1 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate 3' exon and differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting protein (isoform b) has a shorter and distinct C-terminus, compared to isoform a.

Source sequence(s)

AK013138, AK076469, AL589670

Consensus CDS

CCDS49666.1

UniProtKB/TrEMBL

E9PWY6, Q9CZ08

Related

ENSMUSP00000131649.2, ENSMUST00000171999.9

Conserved Domains (2) summary

COG0156
Location:28 → 367

BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]

cl18945
Location:24 → 371

AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
NM_013847.4 → NP_038875.3 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform a

See identical proteins and their annotated locations for NP_038875.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AK013138, AK075782, AK087433, AL589670

Consensus CDS

CCDS27630.1

UniProtKB/Swiss-Prot

O88986

UniProtKB/TrEMBL

Q9CZ08

Related

ENSMUSP00000006544.8, ENSMUST00000006544.9

Conserved Domains (2) summary

COG0156
Location:28 → 409

BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]

cl18945
Location:24 → 415

AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...