SHMT1 - serine hydroxymethyltransferase 1 Gene

Homo sapiens

Also known as SHMT; CSHMT

Gene ID: 6470 | Gene type: protein coding

About SHMT1

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:18,327,873-18,363,550 (from NCBI)

This gene has 10 transcripts (splice variants), 1 gene allele, 208 orthologues and 1 paralogue. Biased expression in kidney (RPKM 121.9), liver (RPKM 84.9) and 13 other tissues.

Summary

This gene encodes the cytosolic form of serine hydroxymethyltransferase, a pyridoxal phosphate-containing Enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. This reaction provides one-carbon units for synthesis of methionine, thymidylate, and purines in the cytoplasm. This gene is located within the Smith-Magenis syndrome region on chromosome 17. A pseudogene of this gene is located on the short arm of chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

SHMT1 Products(3)

mRNA	Protein	Name
NM_001281786.2	NP_001268715.1	serine hydroxymethyltransferase, cytosolic isoform 3
NM_004169.5	NP_004160.3	serine hydroxymethyltransferase, cytosolic isoform 1
NM_148918.3	NP_683718.1	serine hydroxymethyltransferase, cytosolic isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables aldehyde-lyase activity	EXP EXP: Inferred from Experiment	3110140	GOA
enables glycine hydroxymethyltransferase activity	IDA IDA: Inferred from direct assay	8505317	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables mRNA 5'-UTR binding	IDA IDA: Inferred from direct assay	10995219	GOA
enables mRNA regulatory element binding translation repressor activity	IDA IDA: Inferred from direct assay	10995219	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	9753690	GOA
enables pyridoxal phosphate binding	IDA IDA: Inferred from direct assay	17482557	GOA
enables serine binding	IDA IDA: Inferred from direct assay	24698160	GOA
enables small molecule binding	IPI IPI: Inferred from physical interaction	24698160	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in L-serine catabolic process	IDA IDA: Inferred from direct assay	17482557	GOA
involved in L-serine metabolic process	IDA IDA: Inferred from direct assay	24698160	GOA
involved in cellular response to tetrahydrofolate	IDA IDA: Inferred from direct assay	24698160	GOA
involved in folic acid metabolic process	IDA IDA: Inferred from direct assay	11278996	GOA
involved in glycine metabolic process	IDA IDA: Inferred from direct assay	24698160	GOA
involved in negative regulation of translation	IDA IDA: Inferred from direct assay	10995219	GOA
involved in protein homotetramerization	IDA IDA: Inferred from direct assay	24698160	GOA
involved in purine nucleobase biosynthetic process	IDA IDA: Inferred from direct assay	11516159	GOA
involved in tetrahydrofolate interconversion	IDA IDA: Inferred from direct assay	24698160	GOA
involved in tetrahydrofolate metabolic process	IDA IDA: Inferred from direct assay	24698160	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	17482557	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

SHMT1 Protein Structure

SHMT

0
100
200
300
400
483 a.a.

Protein Preferred Names

Protein Names

serine hydroxymethyltransferase, cytosolic

cytoplasmic serine hydroxymethyltransferase

Recombinant SHMT1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70973	SHMT1 Protein, Human (HEK293, His)	AAH07979.1 (M3-F483)	≥95%

Related Diseases

Diseases

Alias

Adult Acute Lymphocytic Leukemia

Adult Acute Lymphoid Leukemia

Adult All

Smith-Magenis Syndrome

SMS	Chromosome 17p11.2 Deletion Syndrome
17p11.2 Microdeletion Syndrome	17p11.2 Monosomy
Chromosome 17p Deletion Syndrome	Del(17)
P11.2	17p- Syndrome
Deletion 17p Syndrome	Partial Monosomy 17p

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Serine Deficiency

Lacrimal Gland Carcinoma

Lacrimal Gland Cancer	Carcinoma Of The Lacrimal Gland
Malignant Neoplasm Of Lacrimal Gland	Malignant Tumour Of Lacrimal Gland
Neoplasm Of Lacrimal Gland	Tumor Of The Lacrimal Gland
Malignant Tumor Of Lacrimal Gland

Cutis Laxa, Autosomal Dominant 1

Cutis Laxa, Autosomal Dominant	Autosomal Dominant Cutis Laxa
ADCL1	Adcl
Autosomal Dominant Cutis Laxa 1	Cutis Laxa, Autosomal Dominant, 1
Cutis Laxa, Autosomal Dominant, Type 1

Lacrimal Gland Adenoid Cystic Carcinoma

Adenoid Cystic Carcinoma Of Lacrimal Gland

Lacrimal Gland Adenocarcinoma

Adenocarcinoma Of Lacrimal Gland

Spinocerebellar Ataxia, Autosomal Recessive 7

SCAR7	Autosomal Recessive Spinocerebellar Ataxia 7
Spinocerebellar Ataxia Autosomal Recessive 7	Childhood Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Autosomal Recessive Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia, Autosomal Recessive, 7	Ataxia, Spinocerebellar, Autosomal Recessive, Type 7

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia	Nonketotic Hyperglycinemia
NKH	GCE
Hyperglycinemia, Nonketotic	Hyperglycinemia Nonketotic
Infantile Glycine Encephalopathy	Encephalopathy, Glycine
Glycine Synthase Deficiency	Nka
Neonatal Glycine Encephalopathy	Classic Glycine Encephalopathy
Neonatal Nkh	Neonatal Non-Ketotic Hyperglycinemia
Infantile Nkh	Infantile Non-Ketotic Hyperglycinemia
Non-Ketotic Hyperglycinaemia	Glycine Cleavage Deficiency
Nonketotic Hyperglycinaemia

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

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-112066	SHIN1	Inhibitor	99.43%	Unkown
HY-129226	SHMT-IN-2	Inhibitor	99.50%	Unkown
HY-134978	(Rac)-SHIN2	Inhibitor	99.40%	Unkown
HY-RS12876	SHMT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-162883	SHMT-IN-4	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SHMT1	VGNC	VGNC:34603
Felis catus	SHMT1	VGNC	VGNC:65129
Rattus norvegicus	SHMT1	RGD	RGD:1312011
Canis familiaris	SHMT1	VGNC	VGNC:46150
Mus musculus	SHMT1	MGD	MGI:98299
Macaca mulatta	SHMT1	VGNC	VGNC:103864
Others	SHMT1	NCBI

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