Human Gene SDS (ENST00000257549.9_7) from GENCODE V47lift37
  Description: serine dehydratase (from RefSeq NM_006843.3)
Gencode Transcript: ENST00000257549.9_7
Gencode Gene: ENSG00000135094.11_12
Transcript (Including UTRs)
   Position: hg19 chr12:113,830,250-113,841,692 Size: 11,443 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr12:113,830,746-113,837,513 Size: 6,768 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:113,830,250-113,841,692)mRNA (may differ from genome)Protein (328 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SDHL_HUMAN
DESCRIPTION: RecName: Full=L-serine dehydratase/L-threonine deaminase; Short=SDH; EC=4.3.1.17; AltName: Full=L-serine deaminase; AltName: Full=L-threonine dehydratase; Short=TDH; EC=4.3.1.19;
CATALYTIC ACTIVITY: L-serine = pyruvate + NH(3).
CATALYTIC ACTIVITY: L-threonine = 2-oxobutanoate + NH(3).
COFACTOR: Pyridoxal phosphate.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=23 mM for serine; KM=31 mM for threonine;
PATHWAY: Carbohydrate biosynthesis; gluconeogenesis.
SUBUNIT: Homodimer.
SUBCELLULAR LOCATION: Cytoplasm.
SIMILARITY: Belongs to the serine/threonine dehydratase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SDS
Diseases sorted by gene-association score: autosomal dominant nonsyndromic deafness 69 (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 204.11 RPKM in Liver
Total median expression: 310.29 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -26.30122-0.216 Picture PostScript Text
3' UTR -169.50496-0.342 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000634 - Ser/Thr_deHydtase_PyrdxlP-BS
IPR001926 - Trp_syn_b_sub_like_PLP_eny_SF

Pfam Domains:
PF00291 - Pyridoxal-phosphate dependent enzyme

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains
51905 - FAD/NAD(P)-binding domain
53686 - Tryptophan synthase beta subunit-like PLP-dependent enzymes
53697 - SIS domain
53822 - Periplasmic binding protein-like I

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1P5J - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P20132
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGD   SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003941 L-serine ammonia-lyase activity
GO:0004794 L-threonine ammonia-lyase activity
GO:0016829 lyase activity
GO:0016836 hydro-lyase activity
GO:0030170 pyridoxal phosphate binding
GO:0042803 protein homodimerization activity

Biological Process:
GO:0006094 gluconeogenesis
GO:0006520 cellular amino acid metabolic process
GO:0006565 L-serine catabolic process
GO:0019518 L-threonine catabolic process to glycine
GO:0042866 pyruvate biosynthetic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK124290 - Homo sapiens cDNA FLJ42296 fis, clone TLIVE2008712.
AK292760 - Homo sapiens cDNA FLJ75824 complete cds, highly similar to Homo sapiens serine dehydratase (SDS), mRNA.
J05037 - Human serine dehydratase mRNA, complete cds.
JD382473 - Sequence 363497 from Patent EP1572962.
JD230362 - Sequence 211386 from Patent EP1572962.
JD565825 - Sequence 546849 from Patent EP1572962.
JD323748 - Sequence 304772 from Patent EP1572962.
JD421018 - Sequence 402042 from Patent EP1572962.
JD391006 - Sequence 372030 from Patent EP1572962.
JD139404 - Sequence 120428 from Patent EP1572962.
JD454897 - Sequence 435921 from Patent EP1572962.
AB529149 - Synthetic construct DNA, clone: pF1KB5210, Homo sapiens SDS gene for serine dehydratase, without stop codon, in Flexi system.
BC020750 - Homo sapiens serine dehydratase, mRNA (cDNA clone MGC:22597 IMAGE:4662951), complete cds.
CU676692 - Synthetic construct Homo sapiens gateway clone IMAGE:100022109 5' read SDS mRNA.
KJ902183 - Synthetic construct Homo sapiens clone ccsbBroadEn_11577 SDS gene, encodes complete protein.
JD248114 - Sequence 229138 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY66-428 - L-threonine degradation
SERDEG-PWY - L-serine degradation

Reactome (by CSHL, EBI, and GO)

Protein P20132 (Reactome details) participates in the following event(s):

R-HSA-9014627 SDS dimers:PXLP dehydrate L-Thr to 2AA
R-HSA-8849175 Threonine catabolism
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K9P5, ENST00000257549.1, ENST00000257549.2, ENST00000257549.3, ENST00000257549.4, ENST00000257549.5, ENST00000257549.6, ENST00000257549.7, ENST00000257549.8, NM_006843, P20132, SDH, SDHL_HUMAN, uc317fyl.1, uc317fyl.2
UCSC ID: ENST00000257549.9_7
RefSeq Accession: NM_006843.3
Protein: P20132 (aka SDHL_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.