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FLASH GENE

Symbol

SHMT1

contributors: mct - updated : 25-08-2012

HGNC name	serine hydroxymethyltransferase 1 (soluble)
HGNC id	10850

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

text	with several alternatively spliced isoforms(Girgis)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_148918 11 - 2423 NP_683718 - 444 - 2012 22194612 NM_004169 12 - 2540 NP_004160 - 483 - 2012 22194612

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly Reproductive female system uterus cervix     Urinary kidney       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

ubiquitinated

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus
text	SUMO and ubiquitin modification of SHMT1 occurs on the same lysine residue and determine the localization and accumulation of SHMT1 in the nucleus

basic FUNCTION	catalyzing serine synthesis
	putative regulator of cell growth and proliferation
	SHMT1 and SHMT2 are functionally redundant in nuclear de novo thymidylate biosynthesis
	SHMT1-mediated nuclear de novo thymidylate synthesis is critical for maintaining DNA integrity
	catalyzes the transfer of a beta-carbon from serine to tetrahydrofolate to form glycine and 5,10-methylene-tetrahydrofolate

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

monocarbon

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	pyridoxal phosphate

protein

interact with UBE2I and was a substrate for UBE2I-catalyzed small ubiquitin-like modifier (SUMO) modification in vitro

cell & other

interacts with components of the proteasome in both the nucleus and cytoplasm, indicating that degradation occurs in both compartments

REGULATION

Other

ubiquitinated at the small ubiquitin-like modifier (SUMO) consensus motif and ubiquitination at that site is required for SHMT1 degradation

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in Smith-Magenis syndrome tumoral     --other   aberrantly expressed in breast and ovarian cancer (

Susceptibility

to Down syndrome in young woman (DS)

Variant & Polymorphism SNP	protective role for the genotypes SHMT1 CC and CT (C1420T) on maternal risk for DS, but he concentrations of metabolites of folate pathway did not differ significantly between the genotypes SHMT1

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS