SDSL serine dehydratase like [Homo sapiens (human)] - Gene

Summary

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, Oct 2024]
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

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_000012.12 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?

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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 Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

EC 4.3.1.17

EC 4.3.1.19

EC 5.1.1.3

NP_612441.1

EC 4.3.1.17

EC 4.3.1.19

EC 5.1.1.3

XP_005253888.1

EC 4.3.1.17

EC 4.3.1.19

EC 5.1.1.3

XP_016874252.1

EC 4.3.1.17

EC 4.3.1.19

EC 5.1.1.3

XP_054226953.1

EC 4.3.1.17

EC 4.3.1.19

EC 5.1.1.3

XP_054226954.1

EC 4.3.1.17

EC 4.3.1.19

EC 5.1.1.3

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)

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 ...
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

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

113422380..113438276

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060936.1 Alternate T2T-CHM13v2.0

Range

113399004..113414868

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054370978.1 → XP_054226953.1 serine dehydratase-like isoform X1
XM_054370979.1 → XP_054226954.1 serine dehydratase-like isoform X2

UniProtKB/Swiss-Prot

Q96GA7