Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23464
Gene name	Glycine C-acetyltransferase
Gene symbol	GCAT
Synonyms (NCBI Gene)	KBL
Chromosome	22
Chromosome location	22q13.1
Summary	The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine de

Show/Hide all (78)

miRTarBase ID	miRNA	Experiments	Reference
MIRT038791	hsa-miR-93-3p	CLASH	23622248
MIRT1014265	hsa-miR-125a-3p	CLIP-seq
MIRT1014266	hsa-miR-136	CLIP-seq
MIRT1014267	hsa-miR-3155	CLIP-seq
MIRT1014268	hsa-miR-3155b	CLIP-seq
MIRT1014269	hsa-miR-3169	CLIP-seq
MIRT1014270	hsa-miR-3663-5p	CLIP-seq
MIRT1014271	hsa-miR-371-5p	CLIP-seq
MIRT1014272	hsa-miR-371b-5p	CLIP-seq
MIRT1014273	hsa-miR-3934	CLIP-seq
MIRT1014274	hsa-miR-4454	CLIP-seq
MIRT1014275	hsa-miR-4515	CLIP-seq
MIRT1014276	hsa-miR-4700-3p	CLIP-seq
MIRT1014277	hsa-miR-4716-5p	CLIP-seq
MIRT1014278	hsa-miR-4781-3p	CLIP-seq
MIRT1014279	hsa-miR-484	CLIP-seq
MIRT1014280	hsa-miR-515-5p	CLIP-seq
MIRT1014281	hsa-miR-764	CLIP-seq
MIRT1014266	hsa-miR-136	CLIP-seq
MIRT1014267	hsa-miR-3155	CLIP-seq
MIRT1014268	hsa-miR-3155b	CLIP-seq
MIRT1014270	hsa-miR-3663-5p	CLIP-seq
MIRT1014271	hsa-miR-371-5p	CLIP-seq
MIRT1014272	hsa-miR-371b-5p	CLIP-seq
MIRT1014277	hsa-miR-4716-5p	CLIP-seq
MIRT1014278	hsa-miR-4781-3p	CLIP-seq
MIRT1014279	hsa-miR-484	CLIP-seq
MIRT1014280	hsa-miR-515-5p	CLIP-seq
MIRT2000387	hsa-miR-1208	CLIP-seq
MIRT1014265	hsa-miR-125a-3p	CLIP-seq
MIRT1014266	hsa-miR-136	CLIP-seq
MIRT1014267	hsa-miR-3155	CLIP-seq
MIRT1014268	hsa-miR-3155b	CLIP-seq
MIRT1014270	hsa-miR-3663-5p	CLIP-seq
MIRT1014271	hsa-miR-371-5p	CLIP-seq
MIRT1014272	hsa-miR-371b-5p	CLIP-seq
MIRT1014273	hsa-miR-3934	CLIP-seq
MIRT2233865	hsa-miR-411	CLIP-seq
MIRT1014274	hsa-miR-4454	CLIP-seq
MIRT1014277	hsa-miR-4716-5p	CLIP-seq
MIRT1014278	hsa-miR-4781-3p	CLIP-seq
MIRT2233866	hsa-miR-483-5p	CLIP-seq
MIRT1014279	hsa-miR-484	CLIP-seq
MIRT1014280	hsa-miR-515-5p	CLIP-seq
MIRT1014281	hsa-miR-764	CLIP-seq
MIRT2537785	hsa-miR-106a	CLIP-seq
MIRT2537786	hsa-miR-106b	CLIP-seq
MIRT1014265	hsa-miR-125a-3p	CLIP-seq
MIRT2537787	hsa-miR-150	CLIP-seq
MIRT2537788	hsa-miR-17	CLIP-seq
MIRT2537789	hsa-miR-20a	CLIP-seq
MIRT2537790	hsa-miR-20b	CLIP-seq
MIRT2537791	hsa-miR-302a	CLIP-seq
MIRT2537792	hsa-miR-302b	CLIP-seq
MIRT2537793	hsa-miR-302c	CLIP-seq
MIRT2537794	hsa-miR-302d	CLIP-seq
MIRT2537795	hsa-miR-302e	CLIP-seq
MIRT2537796	hsa-miR-3200-3p	CLIP-seq
MIRT2537797	hsa-miR-372	CLIP-seq
MIRT2537798	hsa-miR-373	CLIP-seq
MIRT1014273	hsa-miR-3934	CLIP-seq
MIRT2537799	hsa-miR-4438	CLIP-seq
MIRT1014274	hsa-miR-4454	CLIP-seq
MIRT2537800	hsa-miR-4650-5p	CLIP-seq
MIRT2537801	hsa-miR-4731-5p	CLIP-seq
MIRT2537802	hsa-miR-4757-5p	CLIP-seq
MIRT2537803	hsa-miR-5095	CLIP-seq
MIRT2537804	hsa-miR-512-3p	CLIP-seq
MIRT2537805	hsa-miR-519d	CLIP-seq
MIRT2537806	hsa-miR-520a-3p	CLIP-seq
MIRT2537807	hsa-miR-520b	CLIP-seq
MIRT2537808	hsa-miR-520c-3p	CLIP-seq
MIRT2537809	hsa-miR-520d-3p	CLIP-seq
MIRT2537810	hsa-miR-520e	CLIP-seq
MIRT2537811	hsa-miR-520g	CLIP-seq
MIRT2537812	hsa-miR-520h	CLIP-seq
MIRT1014281	hsa-miR-764	CLIP-seq
MIRT2537813	hsa-miR-93	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IDA	17688197
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006520	Process	Amino acid metabolic process	NAS	10712613
GO:0006567	Process	L-threonine catabolic process	IEA
GO:0008890	Function	Glycine C-acetyltransferase activity	IEA
GO:0008890	Function	Glycine C-acetyltransferase activity	NAS	10712613
GO:0016607	Component	Nuclear speck	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IEA

MIM	HGNC	e!Ensembl
607422	4188	ENSG00000100116

O75600

Protein name

2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial (AKB ligase) (EC 2.3.1.29) (Aminoacetone synthase) (Glycine acetyltransferase)

Protein function

Pyridoxal phosphate (PLP) dependent enzyme, which catalyzes the cleavage of 2-amino-3-oxobutanoate to glycine and acetyl-CoA.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00155	Aminotran_1_2	66 → 408	Aminotransferase class I and II	Domain

Tissue specificity

TISSUE SPECIFICITY: Strongly expressed in heart, brain, liver and pancreas. Also found in lung. {ECO:0000269|PubMed:10712613}.

Sequence

MWPGNAWRAALFWVPRGRRAQSALAQLRGILEGELEGIRGAGTWKSERVITSRQGPHIRV
DGVSGGILNFCANNYLGLSSHPEVIQAGLQALEEFGAGLSSVRFICGTQSIHKNLEAKIA
RFHQREDAILYPSCYDANAGLFEALLTPEDAVLSDELNHASIIDGIRLCKAHKYRYRHLD
MADLEAKLQEAQKHRLRLVATDGAFSMDGDIAPLQEICCLASRYGALVFMDECHATGFLG
PTGRGTDELLGVMDQVTIINSTLGKALGGASGGYTTGPGPLVSLLRQRARPYLFSNSLPP
AVVGCASKALDLLMGSNTIVQSMAAKTQRFRSKMEAAGFTISGASHPICPVMLGDARLAS
RMADDMLKRGIFVIGFSYPVVPKGKARIRVQISAVHSEEDIDRCVEAFVEVGRLHGALP

Sequence length

419

Interactions

View interactions

	KEGG		Reactome
	Glycine, serine and threonine metabolism Metabolic pathways		Threonine catabolism

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
HEARING LOSS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma of lung	Lung carcinoma	BEFREE	26261647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26261647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12174908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37579195	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

GCAT (glycine C-acetyltransferase)