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SDSL serine dehydratase like [ Homo sapiens (human) ]

Gene ID: 113675, updated on 2-Nov-2024

Summary

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Official Symbol
SDSLprovided by HGNC
Official Full Name
serine dehydratase likeprovided by HGNC
Primary source
HGNC:HGNC:30404
See related
Ensembl:ENSG00000139410 MIM:620735; AllianceGenome:HGNC:30404
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TDH; SDHL; cSDH; SDH 2; SDS-RS1
Summary
Enables L-serine ammonia-lyase activity; identical protein binding activity; and threonine deaminase activity. Predicted to be involved in L-serine catabolic process; isoleucine biosynthetic process; and threonine catabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in kidney (RPKM 8.5), thyroid (RPKM 7.2) and 24 other tissues See more
Orthologs
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Genomic context

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See SDSL in Genome Data Viewer
Location:
12q24.13
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (113422380..113438276)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (113399004..113414868)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (113860185..113876081)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4895 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113797151-113797650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113801516-113802016 Neighboring gene phospholipase B domain containing 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113818149-113818674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113839129-113839630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113839631-113840130 Neighboring gene serine dehydratase Neighboring gene ReSE screen-validated silencer GRCh37_chr12:113851189-113851372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113855942-113856442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113905667-113906660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113908758-113909558 Neighboring gene LIM homeobox 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113916060-113917027 Neighboring gene LHX5 antisense RNA 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  2. The crystal structure of SDSL has been determined. Site-directed mutagenesis studies suggest that having a glycine at residue 72 of SDSL is the major reason for the reduction of its catalytic activity, in comparison with the liver enzyme (SDS).
    Title: 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.
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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 glutamate racemase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables molecular_function ND
No biological Data available
more info
  
enables pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
  
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 biological_process ND
No biological Data available
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 threonine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
serine dehydratase-like
Names
L-serine deaminase
L-serine dehydratase/L-threonine deaminase
L-threonine dehydratase
cancerous serine dehydratase
glutamate racemase
serine dehydratase 2
serine dehydratase related sequence 1
NP_001291922.1
NP_612441.1
XP_005253888.1
XP_016874252.1
XP_054226953.1
XP_054226954.1

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.

mRNA and Protein(s)

  1. NM_001304993.2 → NP_001291922.1  serine dehydratase-like

    See identical proteins and their annotated locations for NP_001291922.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC010178, BC091479
    Consensus CDS
    CCDS9170.1
    UniProtKB/Swiss-Prot
    Q96GA7
    Related
    ENSP00000385790.4, ENST00000403593.9
    Conserved Domains (2) summary
    pfam00291
    Location:18 → 310
    PALP; Pyridoxal-phosphate dependent enzyme
    cl00342
    Location:17 → 326
    Trp-synth-beta_II; Tryptophan synthase beta superfamily (fold type II); this family of pyridoxal phosphate (PLP)-dependent enzymes catalyzes beta-replacement and beta-elimination reactions. This CD corresponds to aminocyclopropane-1-carboxylate deaminase (ACCD), tryptophan ...

  2. NM_138432.4 → NP_612441.1  serine dehydratase-like

    See identical proteins and their annotated locations for NP_612441.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC010178, BC009849
    Consensus CDS
    CCDS9170.1
    UniProtKB/Swiss-Prot
    Q96GA7
    Related
    ENSP00000341117.4, ENST00000345635.8
    Conserved Domains (2) summary
    pfam00291
    Location:18 → 310
    PALP; Pyridoxal-phosphate dependent enzyme
    cl00342
    Location:17 → 326
    Trp-synth-beta_II; Tryptophan synthase beta superfamily (fold type II); this family of pyridoxal phosphate (PLP)-dependent enzymes catalyzes beta-replacement and beta-elimination reactions. This CD corresponds to aminocyclopropane-1-carboxylate deaminase (ACCD), tryptophan ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    113422380..113438276
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018763.2 → XP_016874252.1  serine dehydratase-like isoform X1

  2. XM_005253831.6 → XP_005253888.1  serine dehydratase-like isoform X2

    See identical proteins and their annotated locations for XP_005253888.1

    UniProtKB/Swiss-Prot
    Q96GA7
    Conserved Domains (2) summary
    pfam00291
    Location:18 → 310
    PALP; Pyridoxal-phosphate dependent enzyme
    cl00342
    Location:17 → 326
    Trp-synth-beta_II; Tryptophan synthase beta superfamily (fold type II); this family of pyridoxal phosphate (PLP)-dependent enzymes catalyzes beta-replacement and beta-elimination reactions. This CD corresponds to aminocyclopropane-1-carboxylate deaminase (ACCD), tryptophan ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    113399004..113414868
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370978.1 → XP_054226953.1  serine dehydratase-like isoform X1

  2. XM_054370979.1 → XP_054226954.1  serine dehydratase-like isoform X2

    UniProtKB/Swiss-Prot
    Q96GA7
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96GA7.1 GenPept UniProtKB/Swiss-Prot:Q96GA7

Gene LinkOut

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