GNMT - glycine N-methyltransferase Gene

Also Known as HEL-S-182mP

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 27232

About GNMT

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:42,960,754-42,963,880 (from NCBI)

This gene has 1 transcript (splice variant), 201 orthologues and is associated with 2 phenotypes. Biased expression in liver (RPKM 73.9), pancreas (RPKM 27.4) and 1 other tissue.

Summary

The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between the upstream CNPY3 (canopy FGF signaling regulator 3) gene and this gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]

GNMT Products (2)

mRNA	Protein	Name
NM_001318865.2	NP_001305794.1	glycine N-methyltransferase isoform 2
NM_018960.6	NP_061833.1	glycine N-methyltransferase isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	参考文献	由来
enables glycine N-methyltransferase activity	IDA IDA: Inferred from direct assay	15340920	GOA
enables glycine binding	IDA IDA: Inferred from direct assay	15340920	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in S-adenosylmethionine metabolic process	IDA IDA: Inferred from direct assay	15340920	GOA
involved in protein homotetramerization	IPI IPI: Inferred from physical interaction	15340920	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GNMT Protein Structure

Methyltransf_18

0
100
200
295 a.a.

Protein Preferred Names	Protein Names
glycine N-methyltransferase	epididymis secretory sperm binding protein Li 182mP

GNMT Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	GNMT	Q14749	SNRNP200	Homo sapiens	O75643	Y2H Prey Pooling	32296183
Intra	GNMT	Q14749	SNRNP200	Homo sapiens	O75643	Y2H Array	32296183
Intra	GNMT	Q14749	DRC12	Homo sapiens	Q494R4-2	Validated Y2H	32296183
Intra	GNMT	Q14749	DRC12	Homo sapiens	Q494R4-2	Y2H Array	32296183
Intra	GNMT	Q14749	DRC12	Homo sapiens	Q494R4-2	Y2H Prey Pooling	32296183
Intra	GNMT	Q14749	GAGE2B	Homo sapiens	Q13066	Y2H Prey Pooling	32296183
Intra	GNMT	Q14749	GAGE2B	Homo sapiens	Q13066	Y2H Array	32296183
Intra	GNMT	Q14749	GABRQ	Homo sapiens	Q9UN88	Y2H Array	32296183
Intra	GNMT	Q14749	GABRQ	Homo sapiens	Q9UN88	Y2H Prey Pooling	32296183
Intra	GNMT	Q14749	GABRQ	Homo sapiens	Q9UN88	Validated Y2H	32296183
Intra	GNMT	Q14749	SRD5A2	Homo sapiens	P31213	Y2H Prey Pooling	32296183
Intra	GNMT	Q14749	SRD5A2	Homo sapiens	P31213	Y2H Array	32296183
Intra	GNMT	Q14749	TRIM35	Homo sapiens	Q9UPQ4-2	Validated Y2H	32296183
Intra	GNMT	Q14749	TRIM35	Homo sapiens	Q9UPQ4-2	Y2H Array	32296183
Intra	GNMT	Q14749	TRIM35	Homo sapiens	Q9UPQ4-2	Y2H Prey Pooling	32296183
Intra	GNMT	Q14749	CTNS	Homo sapiens	O60931-2	Y2H Array	32296183
Intra	GNMT	Q14749	CTNS	Homo sapiens	O60931-2	Y2H Prey Pooling	32296183
Intra	GNMT	Q14749	FRG1	Homo sapiens	Q14331	Y2H Prey Pooling	32296183
Intra	GNMT	Q14749	FRG1	Homo sapiens	Q14331	Y2H Array	32296183
Intra	GNMT	Q14749	COX7B	Homo sapiens	P24311	Y2H Prey Pooling	32296183
Intra	GNMT	Q14749	COX7B	Homo sapiens	P24311	Y2H Array	32296183
Intra	GNMT	Q14749	ZNF337	Homo sapiens	Q9Y3M9	Y2H Array	32296183
Intra	GNMT	Q14749	ZNF337	Homo sapiens	Q9Y3M9	Validated Y2H	32296183
Intra	GNMT	Q14749	ZNF337	Homo sapiens	Q9Y3M9	Y2H Prey Pooling	32296183
Intra	GNMT	Q14749	NTAQ1	Homo sapiens	Q96HA8	Y2H Array	31515488
Intra	GNMT	Q14749	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	32296183
Intra	GNMT	Q14749	ARRB1	Homo sapiens	P49407	Validated Y2H	26871637
Intra	GNMT	Q14749	ARRB1	Homo sapiens	P49407	Y2H Array	26871637
Intra	GNMT	Q14749	ARRB1	Homo sapiens	P49407	Anti Tag CoIP	21988832
Intra	GNMT	Q14749	ARRB1	Homo sapiens	P49407	Pull Down	21988832
Intra	GNMT	Q14749	ARRB1	Homo sapiens	P49407	Y2H Prey Pooling	26871637
Intra	GNMT	Q14749	ARRB1	Homo sapiens	P49407	Y2H	21988832
Intra	GNMT	Q14749	GNMT	Homo sapiens	Q14749	Y2H Pooling	16189514
Intra	GNMT	Q14749	GNMT	Homo sapiens	Q14749	Y2H Array	31515488
Intra	GNMT	Q14749	GNMT	Homo sapiens	Q14749	Y2H Prey Pooling	26871637
Intra	GNMT	Q14749	GNMT	Homo sapiens	Q14749	Validated Y2H	26871637
Intra	GNMT	Q14749	GNMT	Homo sapiens	Q14749	Y2H Array	25502805
Intra	GNMT	Q14749	GNMT	Homo sapiens	Q14749	Y2H Array	26871637
Intra	GNMT	Q14749	HPRT1	Homo sapiens	P00492	Y2H Prey Pooling	32296183
Intra	GNMT	Q14749	HPRT1	Homo sapiens	P00492	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant GNMT Proteins

製品番号	製品名	アクセッション番号	純度
HY-P70835	GNMT Protein, Human (His)	Q14749 (M1-D295)	≥ 95%, as determined by reducing SDS-PAGE.

関連疾患

Diseases	Alias
Glycine N-Methyltransferase Deficiency	GNMT DEFICIENCY Hypermethioninemia Due To Glycine N-Methyltransferase Deficiency Hypermethioninemia Due To Gnmt Deficiency Hypermethioninemia Hepatic Methionine Adenosyltransferase Deficiency
Hypermethioninemia	Hepatic Methionine Adenosyltransferase Deficiency Deficiency Of Methionine Adenosyltransferase Glycine N-Methyltransferase Deficiency Met S-Adenosylhomocysteine Hydrolase Deficiency Gnmt Deficiency Mat Deficiency Methionine Adenosyltransferase Deficiency Methioninemia Deficiency Of Acetyl-Coa Acetyltransferase
Liver Disease	Liver Failure Liver Diseases Abnormality Of The Liver Liver Dysfunction Disorder Of Liver Hepatic Disorder Hepatic Disease Disease Of Bilirubin Metabolism Disorder Of Bilirubin Metabolism Liver Decompensation Liver Function Failure Hepatic Failure Nos Liver Failure Nos End Stage Liver Disease Decompensated Liver Failure Decompensation Of Liver Function Hepatic Decompensation Hepatic Insufficiency Liver Cell Necrosis With Hepatic Failure Liver Insufficiency Decompensated Liver Disease End Stage Liver Failure Liver Necrosis With Hepatic Failure
Glycogen Storage Disease	Glycogenosis Glycogenoses Gsd Storage Disease, Glycogen Gsd - [Glycogen Storage Disease] Glycogen Thesaurismosis Diffuse Glycogenosis Generalised Glycogen Storage Disease Generalised Glycogenosis Generalised Glycogen Storage Disease Of Infants Glycogen Synthase Deficiency
Renal Pelvis Transitional Cell Carcinoma	Urothelial Cell Carcinoma Of Renal Pelvis Renal Pelvis Urothelial Carcinoma Transitional Cell Carcinoma Of Renal Pelvis
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS05569	GNMT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17639	Gnmt Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24099	Gnmt Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Felis catus	GNMT	VGNC	VGNC:62628
Rattus norvegicus	GNMT	RGD	RGD:2719
Canis familiaris	GNMT	VGNC	VGNC:41329
Mus musculus	GNMT	MGD	MGI:1202304
Macaca mulatta	GNMT	VGNC	VGNC:73099
Bos taurus	GNMT	VGNC	VGNC:29475
Others	GNMT	NCBI