SHMT1 - serine hydroxymethyltransferase 1 Gene

Also Known as SHMT; CSHMT

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6470

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 References 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 References 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 References 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

SHMT: Serine hydroxymethyltransferase (26 - 425)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 483 a.a.
Protein Preferred Names Protein Names

serine hydroxymethyltransferase, cytosolic

  • cytoplasmic serine hydroxymethyltransferase

SHMT1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SHMT1 P34896 SULT1A3 Homo sapiens P0DMM9
Validated Y2H
25416956
Intra
SHMT1 P34896 IDH3A Homo sapiens P50213
Confocal
30613765
Intra
SHMT1 P34896 IDH3A Homo sapiens P50213
Anti Bait CoIP
30613765
Intra
SHMT1 P34896 MAPK9 Homo sapiens P45984
Y2H Array
25416956
Intra
SHMT1 P34896 MAPK9 Homo sapiens P45984
Validated Y2H
25416956
Intra
SHMT1 P34896 MAPK9 Homo sapiens P45984
Validated Y2H
32296183
Intra
SHMT1 P34896 MAPK9 Homo sapiens P45984
Y2H Array
31515488
Intra
SHMT1 P34896 MAPK9 Homo sapiens P45984
Y2H Prey Pooling
25416956
Intra
SHMT1 P34896 MDFI Homo sapiens Q99750
Validated Y2H
32296183
Intra
SHMT1 P34896 GORASP2 Homo sapiens Q9H8Y8
Validated Y2H
32296183
Intra
SHMT1 P34896 MDFI Homo sapiens Q99750
Y2H Prey Pooling
32296183
Intra
SHMT1 P34896 SHMT1 Homo sapiens P34896
Y2H Prey Pooling
32296183
Intra
SHMT1 P34896 SHMT1 Homo sapiens P34896
Validated Y2H
32296183
Intra
SHMT1 P34896 SHMT1 Homo sapiens P34896
Y2H Array
25416956
Intra
SHMT1 P34896 MDFI Homo sapiens Q99750
Y2H Array
32296183
Intra
SHMT1 P34896 SHMT1 Homo sapiens P34896
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SHMT1 Proteins

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

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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-178432 SHMT2-IN-1 Inhibitor / Unkown
HY-148545 SHMT-IN-3 Inhibitor ≥98.0% Unkown
HY-177092 AGF347 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