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    SDSL serine dehydratase like [ Homo sapiens (human) ]

    Gene ID: 113675, updated on 5-Mar-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 identical protein binding activity. Predicted to be involved in isoleucine biosynthetic process and threonine catabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in kidney (RPKM 8.5), thyroid (RPKM 7.2) and 24 other tissues See more
    Orthologs
    mouse all
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (113422380..113438276)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (113399004..113414868)
    105.20220307 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
    • 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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    Related articles in PubMed

    1. Enzymatic and biochemical properties of a novel human serine dehydratase isoform. Ogawa H, et al. Biochim Biophys Acta, 2006 May. PMID 16580895
    2. 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. Yamada T, et al. Biochim Biophys Acta, 2008 May. PMID 18342636
    3. An empirical framework for binary interactome mapping. Venkatesan K, et al. Nat Methods, 2009 Jan. PMID 19060904, Free PMC Article
    4. A protein interaction landscape of breast cancer. Kim M, et al. Science, 2021 Oct. PMID 34591612, Free PMC Article
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, et al. PLoS One, 2010 Sep 21. PMID 20877624, Free PMC Article

    See all (16) citations in PubMed

    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 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
    		  
    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
    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_2023_10

    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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