SRR (Serine Racemase) Gene
Key enzyme in D-serine synthesis, involved in NMDA receptor modulation and neurological disorders
Gene Information Card
| Symbol | SRR |
|---|---|
| Full Name | Serine Racemase |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 63826 ncbi.nlm.nih.gov/gene/63826 |
| Ensembl ID | ENSG00000167720 |
| UniProt ID | Q9GZT4 |
| OMIM ID | 606477 |
| HGNC ID | 11246 |
| Aliases | ILVBL, MGC104231 |
Description
The SRR gene encodes serine racemase, a pyridoxal-5'-phosphate-dependent enzyme that catalyzes the racemization of L-serine to D-serine. D-serine is a co-agonist at the glycine site of the N-methyl-D-aspartate (NMDA) receptor, playing a critical role in glutamatergic neurotransmission, synaptic plasticity, and neurodevelopment. Variants in SRR have been associated with altered D-serine levels and increased risk for schizophrenia, bipolar disorder, and other neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Reduced D-serine levels due to loss-of-function variants impair NMDA receptor function, contributing to hypoglutamatergic state | ClinVar, OMIM |
| Bipolar Disorder | Altered D-serine metabolism linked to NMDA receptor dysfunction; rare variants observed in patient cohorts | ClinVar, OMIM |
| Autism Spectrum Disorder | Dysregulation of D-serine signaling may affect synaptic development; preliminary genetic associations | ClinVar |
| Amyotrophic Lateral Sclerosis (ALS) | Increased D-serine levels in spinal cord may contribute to excitotoxicity; SRR expression altered | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 4.2 | Medium |
| Kidney | 3.1 | Medium |
| Liver | 1.8 | Low |
| Heart | 0.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model, high expression |
| HEK293 (embryonic kidney) | 3.4 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 1.2 | Low expression |
| A549 (lung carcinoma) | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76Cys) | Missense | Rare | Reduced enzyme activity, associated with schizophrenia |
| c.374G>A (p.Arg125His) | Missense | Rare | Impaired D-serine production, linked to bipolar disorder |
| c.538G>A (p.Gly180Arg) | Missense | Rare | Loss of function, reported in autism spectrum disorder |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein, severe neurological phenotype |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg76Cys, p.Arg125His) reduce or abolish serine racemase activity, leading to decreased D-serine levels and NMDA receptor hypofunction.
Gain of Function (GOF)
No gain-of-function mutations reported in SRR.
Dominant Negative (DN)
No dominant-negative mutations reported; haploinsufficiency is the proposed mechanism for loss-of-function variants.
View complete mutation data：
Gene Ontology (GO)
| • catalytic activity (GO:0003824) | • L-serine ammonia-lyase activity (GO:0004069) |
| • serine racemase activity (GO:0004794) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) | • cellular amino acid metabolic process (GO:0006520) |
| • serine family amino acid metabolic process (GO:0009069) | • D-serine biosynthetic process (GO:0019346) |
| • axon (GO:0030424) | • neuron projection (GO:0043005) |
Pathways
• Serine and glycine metabolism (Reactome: R-HSA-71291)
• Neurotransmitter release cycle (Reactome: R-HSA-112310)
• NMDA receptor activation (Reactome: R-HSA-438066)
Protein Summary
Serine racemase (UniProt Q9GZT4) is a 339-amino-acid homodimeric enzyme that converts L-serine to D-serine using pyridoxal phosphate as a cofactor. It is predominantly expressed in the brain, especially in astrocytes and neurons, where it regulates D-serine availability for NMDA receptor activation. The protein contains a conserved type II PLP-dependent enzyme fold and is subject to post-translational regulation by phosphorylation and S-nitrosylation. Dysregulation of serine racemase activity is implicated in several neurological and psychiatric disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SRRM2 Knockout HEK293 Cell Line | EDJ-KQ2778 | Human | 23524 | Details Get a Quote |
| ESRRA Knockout HEK293 Cell Line | EDJ-KQ4554 | Human | 2101 | Details Get a Quote |
| ESRRG Knockout HEK293 Cell Line | EDJ-KQ4557 | Human | 2104 | Details Get a Quote |
| ESRRB Knockout HEK293 Cell Line | EDJ-KQ4561 | Human | 2103 | Details Get a Quote |
| INSRR Knockout HEK293 Cell Line | EDJ-KQ5003 | Human | 3645 | Details Get a Quote |
| SRRM3 Knockout HEK293 Cell Line | EDJ-KQ8210 | Human | 222183 | Details Get a Quote |
| SRRM4 Knockout HEK293 Cell Line | EDJ-KQ10113 | Human | 84530 | Details Get a Quote |
| SRRD Knockout HEK293 Cell Line | EDJ-KQ11663 | Human | 402055 | Details Get a Quote |
| SRR Knockout HEK293 Cell Line | EDJ-KQ15512 | Human | 63826 | Details Get a Quote |
| SRRM5 Knockout HEK293 Cell Line | EDJ-KQ15513 | Human | 100170229 | Details Get a Quote |
| ESRRA Knockout A-549 Cell Line | EDJ-KQ27194 | Human | 2101 | Details Get a Quote |
| ESRRA Knockout HCT 116 Cell Line | EDJ-KQ27195 | Human | 2101 | Details Get a Quote |
| ESRRA Knockout HeLa Cell Line | EDJ-KQ27196 | Human | 2101 | Details Get a Quote |
| SRRM4 Knockout HeLa Cell Line | EDJ-KQ35970 | Human | 84530 | Details Get a Quote |
| SRRD Knockout A-549 Cell Line | EDJ-KQ40012 | Human | 402055 | Details Get a Quote |
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