ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

SHMT1

Full Name:

serine hydroxymethyltransferase 1 (soluble)

Alias:

CSHMT|MGC15229|MGC24556|SHMT

Organism:

Homo sapiens (Human)

Chromosome:

17

Genetic Location:

17p11.2

Physical Location:

18171911-18207580 on NC_000017.9, complement

Gene Type:

protein-coding

Orthologs:

This gene has no orthologs in other dataset(s).

Gene in Ethanol Study Datasets

Linkage Dataset

Marker

LOD

P value

Location (bp)

D17S1857

16355942

Region:		14355942-18355942
Phenotype:		Alcoholism phenotype along with age, gender, and P300 or constraint
Name:		15211641
Method:		Linkage
Publication:		Hill et al. Am J Med Genet B Neuropsychiatr Genet. (2004) A genome wide search for alcoholism susceptibility genes. PubMed
Summary:		A total of 360 markers for 22 autosomes were spaced at an average distance of 9.4cMand genotyping performed for 330 members of these multiplex families. Extensive clinical data, personality variation, and event-related potential characteristics were available for reducing heterogeneity and detecting robust linkage signals. Multipoint linkage analysis using different analytic strategies give strong support for loci on chromosomes 1, 2, 6, 7, 10, 12, 14, 16, and 17. Thirty five markers with LOD score >2.0 at baseline using the binary alcoholism phenotype along with age, gender, and P300 or constraint (Table III). Here we listed the genes between two near markers or genes near a separate marker (within 2Mb).

Gene Refseq Sequence Annotation

mRNA	Protein	Reference assembly Genomic
NM_004169.3	NP_004160.3	NC_000017.9 range: 18171911..18207580, complement
NM_148918.1	NP_683718.1	NC_000017.9 range: 18171911..18207580, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005829	cytosol	Cellular Component	IDA (17482557)
GO:0005737	cytoplasm	Cellular Component	IEA
GO:0005829	cytosol	Cellular Component	EXP (627563\|9753690)
GO:0030170	pyridoxal phosphate binding	Molecular Function	IDA (17482557)
GO:0042803	protein homodimerization activity	Molecular Function	IDA (9753690)
GO:0004372	glycine hydroxymethyltransferase activity	Molecular Function	EXP (627563\|9753690)
GO:0004372	glycine hydroxymethyltransferase activity	Molecular Function	IEA
GO:0004372	glycine hydroxymethyltransferase activity	Molecular Function	IDA (8505317\|17482557)
GO:0016740	transferase activity	Molecular Function	IEA
GO:0046655	folic acid metabolic process	Biological Process	IDA (11278996)
GO:0009113	purine base biosynthetic process	Biological Process	IDA (11516159)
GO:0006730	one-carbon compound metabolic process	Biological Process	IEA
GO:0006565	L-serine catabolic process	Biological Process	IDA (17482557)
GO:0006563	L-serine metabolic process	Biological Process	IEA
GO:0006544	glycine metabolic process	Biological Process	IEA
GO:0051262	protein tetramerization	Biological Process	IDA (9753690)

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000176974

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: