SDS serine dehydratase [Homo sapiens (human)] - Gene

Summary

Official Symbol: SDSprovided by HGNC
Official Full Name: serine dehydrataseprovided by HGNC
Primary source: HGNC:HGNC:10691
See related: Ensembl:ENSG00000135094 MIM:182128; AllianceGenome:HGNC:10691
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SDH; hSDH
Summary: This gene encodes one of three enzymes that are involved in metabolizing serine and glycine. L-serine dehydratase converts L-serine to pyruvate and ammonia and requires pyridoxal phosphate as a cofactor. The encoded protein can also metabolize threonine to NH4+ and 2-ketobutyrate. The encoded protein is found predominantly in the liver. [provided by RefSeq, Jul 2008]
Expression: Biased expression in liver (RPKM 130.0) and brain (RPKM 4.0) See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.13

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (113392445..113403887, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (113369072..113380515, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (113830250..113841692, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SDS expression is significantly upregulated in human masticatory mucosa during wound healing
Title: Human gingiva transcriptome during wound healing.
S84A serine racemase mutant behaved like serine dehydratase, whereas A65S serine dehydratase mutant acquired an additional function of using D-serine as a substrate.
Title: Modulating the function of human serine racemase and human serine dehydratase by protein engineering.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association between sorbitol dehydrogenase gene polymorphisms and type 2 diabetic retinopathy.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D1S1423 (e-PCR)
- UniSTS:149619

STS-J05037 (e-PCR)
- UniSTS:28077

G54238 (e-PCR)
- UniSTS:109505

WI-12136 (e-PCR)
- UniSTS:23535

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-serine ammonia-lyase activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-serine ammonia-lyase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables pyridoxal phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables pyridoxal phosphate binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables threonine deaminase activity	IBA Inferred from Biological aspect of Ancestor more info
enables threonine deaminase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in L-serine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-serine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in gluconeogenesis	IEA Inferred from Electronic Annotation more info
involved_in isoleucine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in pyruvate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in threonine catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: L-serine dehydratase/L-threonine deaminase

Names: L-serine ammonia-lyase; L-serine deaminase; L-serine dehydratase; L-threonine dehydratase; TDH; hepatic serine dehydratase

NP_006834.2

EC 4.3.1.17

EC 4.3.1.19

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.