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] See more...

Aliases for SDS Gene

Aliases for SDS Gene

  • Serine Dehydratase 2 3 5
  • SDH 2 3 4
  • L-Serine Dehydratase/L-Threonine Deaminase 3 4
  • L-Threonine Dehydratase 3 4
  • L-Serine Ammonia-Lyase 2 3
  • L-Serine Deaminase 3 4
  • TDH 3 4
  • L-Serine Dehydratase 3
  • EC 4.3.1.17 4
  • EC 4.3.1.19 4
  • SDS 5

External Ids for SDS Gene

Previous GeneCards Identifiers for SDS Gene

  • GC12M112739
  • GC12M113349
  • GC12M113613
  • GC12M112242
  • GC12M112292
  • GC12M113830
  • GC12M110841

Summaries for SDS Gene

Entrez Gene Summary for SDS Gene

  • 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]

GeneCards Summary for SDS Gene

SDS (Serine Dehydratase) is a Protein Coding gene. Diseases associated with SDS include Deafness, Autosomal Dominant 69 and Breast Abscess. Among its related pathways are Carbon metabolism and Amino Acid metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and L-serine ammonia-lyase activity. An important paralog of this gene is SDSL.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SDS Gene

Genomics for SDS Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SDS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J113425 Promoter/Enhancer 1.1 Ensembl ENCODE 250.7 +0.5 491 1.3 ZNF654 ZNF580 ZMYM3 POLR2A BCL11A CTCF REST TRIM22 RAD21 IRF4 SDS SDSL HSALNG0094158
GH12J113356 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 1.4 +67.7 67695 4 SP1 MYC NCOR1 ZNF600 IKZF1 ZNF580 POLR2A YY1 MXD4 NONO PLBD2 SLC8B1 LOC105369989 lnc-SDS-1 RBM19 SDSL RITA1 DDX54 ENSG00000201208 RPL6
GH12J113417 Enhancer 1 FANTOM5 ENCODE 1.9 +7.9 7888 1 ZMYM3 ATF2 CEBPA ATF3 YY1 FOXA2 SMAD4 RXRA SAP130 RARA SDSL PLBD2 SLC8B1 SDS OAS2 OAS3 lnc-SDSL-1
GH12J113270 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 1.3 +154.3 154263 2.3 IKZF1 ZNF592 CEBPA REST CEBPB SIN3A RXRA SAP130 TEAD3 ZSCAN9 SDSL RASAL1 RITA1 SLC8B1 RBM19 OAS2 OAS3 OAS1 PLBD2 SDS
GH12J113421 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 0.7 +3.8 3831 2.4 BCLAF1 IKZF1 MYC ZNF600 JUND ZMYM3 ZNF10 NFIC ZIC2 YY1 SDSL HSALNG0094158 RBM19 PLBD2 SLC8B1 SDS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SDS on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SDS

Top Transcription factor binding sites by QIAGEN in the SDS gene promoter:
  • AP-1
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • ATF
  • ATF-2
  • c-Jun
  • Spz1
  • TBP

Genomic Locations for SDS Gene

Latest Assembly
chr12:113,392,445-113,426,301
(GRCh38/hg38)
Size:
33,857 bases
Orientation:
Minus strand

Previous Assembly
chr12:113,830,250-113,841,692
(GRCh37/hg19 by Entrez Gene)
Size:
11,443 bases
Orientation:
Minus strand

chr12:113,830,250-113,864,106
(GRCh37/hg19 by Ensembl)
Size:
33,857 bases
Orientation:
Minus strand

Genomic View for SDS Gene

Genes around SDS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SDS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SDS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SDS Gene

Proteins for SDS Gene

  • Protein details for SDS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20132-SDHL_HUMAN
    Recommended name:
    L-serine dehydratase/L-threonine deaminase
    Protein Accession:
    P20132
    Secondary Accessions:
    • A8K9P5

    Protein attributes for SDS Gene

    Size:
    328 amino acids
    Molecular mass:
    34625 Da
    Cofactor:
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for SDS Gene

neXtProt entry for SDS Gene

Post-translational modifications for SDS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SDS Gene

No data available for DME Specific Peptides for SDS Gene

Domains & Families for SDS Gene

Gene Families for SDS Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SDS Gene

InterPro:
Blocks:
  • Serine/threonine dehydratase, pyridoxal-phosphate attachment site
  • Pyridoxal-5'-phosphate-dependent enzyme, beta family

Suggested Antigen Peptide Sequences for SDS Gene

GenScript: Design optimal peptide antigens:
  • L-threonine dehydratase (SDHL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20132

UniProtKB/Swiss-Prot:

SDHL_HUMAN :
  • Belongs to the serine/threonine dehydratase family.
Family:
  • Belongs to the serine/threonine dehydratase family.
genes like me logo Genes that share domains with SDS: view

Function for SDS Gene

Molecular function for SDS Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-serine = NH4(+) + pyruvate; Xref=Rhea:RHEA:19169, ChEBI:CHEBI:15361, ChEBI:CHEBI:28938, ChEBI:CHEBI:33384; EC=4.3.1.17; Evidence={ECO:0000269|PubMed:18342636};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-threonine = 2-oxobutanoate + NH4(+); Xref=Rhea:RHEA:22108, ChEBI:CHEBI:16763, ChEBI:CHEBI:28938, ChEBI:CHEBI:57926; EC=4.3.1.19; Evidence={ECO:0000269|PubMed:18342636};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=23 mM for serine {ECO:0000269|PubMed:18342636}; KM=31 mM for threonine {ECO:0000269|PubMed:18342636};
GENATLAS Biochemistry:
serine dehydratase,liver,murine ortholog

Enzyme Numbers (IUBMB) for SDS Gene

Phenotypes From GWAS Catalog for SDS Gene

Gene Ontology (GO) - Molecular Function for SDS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003941 L-serine ammonia-lyase activity IEA,IDA 15689518
GO:0004794 L-threonine ammonia-lyase activity IBA 21873635
GO:0005515 protein binding IPI 32296183
GO:0016829 lyase activity IEA --
GO:0030170 pyridoxal phosphate binding IEA,IDA 15689518
genes like me logo Genes that share ontologies with SDS: view
genes like me logo Genes that share phenotypes with SDS: view

miRNA for SDS Gene

miRTarBase miRNAs that target SDS

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SDS

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SDS Gene

Localization for SDS Gene

Subcellular locations from UniProtKB/Swiss-Prot for SDS Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SDS gene
Compartment Confidence
mitochondrion 5
cytosol 5
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SDS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA --
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with SDS: view

Pathways & Interactions for SDS Gene

genes like me logo Genes that share pathways with SDS: view

UniProtKB/Swiss-Prot P20132-SDHL_HUMAN

  • Pathway: Carbohydrate biosynthesis; gluconeogenesis.

Gene Ontology (GO) - Biological Process for SDS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006094 gluconeogenesis IEA --
GO:0006520 cellular amino acid metabolic process IEA --
GO:0006565 L-serine catabolic process IDA 15689518
GO:0006567 threonine catabolic process IBA 21873635
GO:0009097 isoleucine biosynthetic process IBA 21873635
genes like me logo Genes that share ontologies with SDS: view

No data available for SIGNOR curated interactions for SDS Gene

Drugs & Compounds for SDS Gene

(25) Drugs for SDS Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 18
Threonine Approved Nutra 40
Citalopram Approved Pharma 613
Ammonia Approved Pharma 0
Water Approved Pharma 0

(3) Additional Compounds for SDS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Aminoacrylic acid
  • 2,3-Didehydroalanine
  • 2-Aminoacrylate
  • alpha,beta-Dehydroalanine
  • Anhydroserine2-aminopropenoic acid
  • Dehydroalanine
28453-71-6
genes like me logo Genes that share compounds with SDS: view

Transcripts for SDS Gene

mRNA/cDNA for SDS Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SDS

Alternative Splicing Database (ASD) splice patterns (SP) for SDS Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8
SP1: - -
SP2: - -
SP3: -
SP4: - - - - -
SP5:

Relevant External Links for SDS Gene

GeneLoc Exon Structure for
SDS

Expression for SDS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SDS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SDS Gene

This gene is overexpressed in Liver (x40.9).

Protein differential expression in normal tissues from HIPED for SDS Gene

This gene is overexpressed in Liver (65.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SDS Gene



Protein tissue co-expression partners for SDS Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SDS

SOURCE GeneReport for Unigene cluster for SDS Gene:

Hs.439023

Evidence on tissue expression from TISSUES for SDS Gene

  • Liver(4.8)
  • Lung(4.1)
  • Kidney(2.1)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with SDS: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SDS Gene

Orthologs for SDS Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SDS Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SDS 29 30
  • 99.49 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SDS 29 30
  • 83.75 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sds 29 16 30
  • 82.57 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sds 29
  • 81.8 (n)
Oppossum
(Monodelphis domestica)
Mammalia SDS 30
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SDS 30
  • 67 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SDS 30
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sds 29
  • 67.29 (n)
Str.12213 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.1669 29
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHA1 30
  • 31 (a)
OneToMany
SDL1 32
Bread mold
(Neurospora crassa)
Ascomycetes NCU03761 29
  • 49.2 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 49 (a)
OneToMany
Species where no ortholog for SDS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for SDS Gene

ENSEMBL:
Gene Tree for SDS (if available)
TreeFam:
Gene Tree for SDS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SDS: view image
Alliance of Genome Resources:
Additional Orthologs for SDS

Paralogs for SDS Gene

Paralogs for SDS Gene

(1) SIMAP similar genes for SDS Gene using alignment to 3 proteins:

  • SDHL_HUMAN
  • F8VW93_HUMAN
  • F8VXS0_HUMAN
genes like me logo Genes that share paralogs with SDS: view

Variants for SDS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SDS Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs139795134 Benign: not provided 113,399,647(-) T/G
NM_006843.3(SDS):c.62A>C (p.Lys21Thr)
MISSENSE
rs141811663 Likely Benign: not provided 113,398,799(-) C/T
NM_006843.3(SDS):c.241G>A (p.Val81Ile)
MISSENSE
rs151016225 Likely Benign: not provided 113,399,631(-) G/A
NM_006843.3(SDS):c.78C>T (p.Ser26=)
SYNONYMOUS
rs185843116 Likely Benign: not provided 113,397,314(-) G/A
NM_006843.3(SDS):c.504C>T (p.Gly168=)
SYNONYMOUS
rs35465493 Likely Benign: not provided 113,398,839(-) G/A
NM_006843.3(SDS):c.201C>T (p.Asn67=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SDS Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SDS Gene

Variant ID Type Subtype PubMed ID
esv3630792 CNV gain 21293372
esv3892265 CNV gain 25118596
nsv519540 CNV gain+loss 19592680

Variation tolerance for SDS Gene

Residual Variation Intolerance Score: 32.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.18; 39.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SDS Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SDS
Leiden Open Variation Database (LOVD)
SDS

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SDS Gene

Disorders for SDS Gene

MalaCards: The human disease database

(4) MalaCards diseases for SDS Gene - From: COP and GCD

Disorder Aliases PubMed IDs
deafness, autosomal dominant 69
  • dfna69
breast abscess
  • abscess of breast
late-onset retinal degeneration
  • lord
neuromuscular disease
  • neuromuscular diseases
- elite association - COSMIC cancer census association via MalaCards
Search SDS in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SDS

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SDS: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SDS Gene

Publications for SDS Gene

  1. A catalytic mechanism that explains a low catalytic activity of serine dehydratase like-1 from human cancer cells: crystal structure and site-directed mutagenesis studies. (PMID: 18342636) Yamada T … Takusagawa F (Biochimica et biophysica acta 2008) 3 4 22
  2. Crystallization and preliminary crystallographic analysis of human serine dehydratase. (PMID: 14646100) Sun L … Rao Z (Acta crystallographica. Section D, Biological crystallography 2003) 3 4 22
  3. Human liver serine dehydratase. cDNA cloning and sequence homology with hydroxyamino acid dehydratases from other sources. (PMID: 2674117) Ogawa H … Fujioka M (The Journal of biological chemistry 1989) 2 3 4
  4. Association between sorbitol dehydrogenase gene polymorphisms and type 2 diabetic retinopathy. (PMID: 18289528) Szaflik JP … Blasiak J (Experimental eye research 2008) 3 40
  5. Crystal structure of the pyridoxal-5'-phosphate-dependent serine dehydratase from human liver. (PMID: 15689518) Sun L … Rao Z (Protein science : a publication of the Protein Society 2005) 3 22

Products for SDS Gene

Sources for SDS Gene