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SRR serine racemase [ Homo sapiens (human) ]

Gene ID: 63826, updated on 3-Apr-2024

Summary

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Official Symbol
SRRprovided by HGNC
Official Full Name
serine racemaseprovided by HGNC
Primary source
HGNC:HGNC:14398
See related
Ensembl:ENSG00000167720 MIM:606477; AllianceGenome:HGNC:14398
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
ILV1; ISO1
Summary
Enables several functions, including L-serine ammonia-lyase activity; PDZ domain binding activity; and anion binding activity. Involved in pyruvate biosynthetic process; response to lipopolysaccharide; and serine family amino acid metabolic process. Located in cytoplasm and neuronal cell body. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 6.5), testis (RPKM 6.3) and 25 other tissues See more
Orthologs
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Genomic context

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See SRR in Genome Data Viewer
Location:
17p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (2303378..2325264)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (2190459..2212603)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (2207237..2228558)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SMG6 nonsense mediated mRNA decay factor Neighboring gene RNA, 7SL, cytoplasmic 624, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:2116692-2117891 Neighboring gene heart enhancer 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11479 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2122139-2123075 Neighboring gene uncharacterized LOC101927839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11487 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11489 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2205337-2206151 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:2206481-2207207 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 16 Neighboring gene small nucleolar RNA, C/D box 91B Neighboring gene small nucleolar RNA, C/D box 91A Neighboring gene TSR1 ribosome maturation factor

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. The allosteric interplay between S-nitrosylation and glycine binding controls the activity of human serine racemase. Marchesani F, et al. FEBS J, 2021 May. PMID 33249721
  2. Glutamine 89 is a key residue in the allosteric modulation of human serine racemase activity by ATP. Canosa AV, et al. Sci Rep, 2018 Jun 13. PMID 29899358, Free PMC Article
  3. Inflammatory cytokine-mediated induction of serine racemase in atopic dermatitis. Yoshihisa Y, et al. J Cell Mol Med, 2018 Jun. PMID 29566294, Free PMC Article
  4. Faster progression from MCI to probable AD for carriers of a single-nucleotide polymorphism associated with type 2 diabetes. Girard H, et al. Neurobiol Aging, 2018 Apr. PMID 29338921
  5. Serine Racemase and D-serine in the Amygdala Are Dynamically Involved in Fear Learning. Balu DT, et al. Biol Psychiatry, 2018 Feb 1. PMID 29025687, Free PMC Article

See all (72) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The Prognostic Role of Serine Racemase in Patients With Pancreatic Cancer: A New Marker in Cancer Metabolism.
    Title: The Prognostic Role of Serine Racemase in Patients With Pancreatic Cancer: A New Marker in Cancer Metabolism.
  2. qPCR Analysis Reveals Association of Differential Expression of SRR, NFKB1, and PDE4B Genes With Type 2 Diabetes Mellitus.
    Title: qPCR Analysis Reveals Association of Differential Expression of SRR, NFKB1, and PDE4B Genes With Type 2 Diabetes Mellitus.
  3. The allosteric interplay between S-nitrosylation and glycine binding controls the activity of human serine racemase.
    Title: The allosteric interplay between S-nitrosylation and glycine binding controls the activity of human serine racemase.
  4. Human serine racemase is inhibited by glyceraldehyde 3-phosphate, but not by glyceraldehyde 3-phosphate dehydrogenase.
    Title: Human serine racemase is inhibited by glyceraldehyde 3-phosphate, but not by glyceraldehyde 3-phosphate dehydrogenase.
  5. Impaired serine metabolism complements LRRK2-G2019S pathogenicity in PD patients.
    Title: Impaired serine metabolism complements LRRK2-G2019S pathogenicity in PD patients.
  6. these findings suggest that d-serine expressed particularly strongly in atopic dermatitis lesional skin and that the Serine racemase (SR) expression in the keratinocytes is linked to inflammatory cytokines.
    Title: Inflammatory cytokine-mediated induction of serine racemase in atopic dermatitis.
  7. Results indicate glutamine 89 (Q89) as a key residue for the allosteric communication, since its mutation is linked to the loss of control of activity by nucleotides.
    Title: Glutamine 89 is a key residue in the allosteric modulation of human serine racemase activity by ATP.
  8. SRR intronic variation inhibits expression of its neighboring SMG6 gene and protects against temporal lobe epilepsy.
    Title: SRR intronic variation inhibits expression of its neighbouring SMG6 gene and protects against temporal lobe epilepsy.
  9. SRR single nucleotide polymorphism, rs4523957, is associated with posttraumatic stress disorder.
    Title: Serine Racemase and D-serine in the Amygdala Are Dynamically Involved in Fear Learning.
  10. SRR was identified as a type 2 diabetes susceptibility gene. SRR plays a role in insulin secretion in vitro.
    Title: Expression and functional assessment of candidate type 2 diabetes susceptibility genes identify four new genes contributing to human insulin secretion.
Submit: New GeneRIF Correction See all GeneRIFs (40)

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

EBI GWAS Catalog

Description
A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese.
EBI GWAS Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
EBI GWAS Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
EBI GWAS Catalog
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
EBI GWAS Catalog
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
EBI GWAS Catalog

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 ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ATP binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables D-serine ammonia-lyase activity IEA
Inferred from Electronic Annotation
more info
  
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 PDZ domain binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables calcium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables glycine binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables magnesium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables magnesium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
enables pyridoxal phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables pyridoxal phosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables pyridoxal phosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables serine racemase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables serine racemase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables threonine racemase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables threonine racemase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in D-serine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in D-serine biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in D-serine metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in L-serine metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in pyruvate biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to lipopolysaccharide IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
  
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in serine family amino acid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in apical part of cell IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in neuronal cell body IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
serine racemase
Names
D-serine ammonia-lyase
D-serine dehydratase
L-serine ammonia-lyase
L-serine dehydratase
NP_001291732.1
NP_068766.1
XP_006721628.1
XP_006721629.1
XP_011522276.1
XP_054172848.1
XP_054172849.1
XP_054172850.1

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_001304803.1 → NP_001291732.1  serine racemase isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon, and it thus differs in its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AI952697, AL834378, AY743706, DA297969
    UniProtKB/TrEMBL
    Q3ZK31, Q8N3F4
    Conserved Domains (1) summary
    cl00342
    Location:1 → 171
    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_021947.3 → NP_068766.1  serine racemase isoform a

    See identical proteins and their annotated locations for NP_068766.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AK023169, AL834378, AY743706
    Consensus CDS
    CCDS11017.1
    UniProtKB/Swiss-Prot
    D3DTI5, Q6IA55, Q9GZT4
    UniProtKB/TrEMBL
    Q53G11
    Related
    ENSP00000339435.5, ENST00000344595.10
    Conserved Domains (1) summary
    cl00342
    Location:5 → 320
    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    2303378..2325264
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721565.4 → XP_006721628.1  serine racemase isoform X1

    See identical proteins and their annotated locations for XP_006721628.1

    UniProtKB/Swiss-Prot
    D3DTI5, Q6IA55, Q9GZT4
    UniProtKB/TrEMBL
    Q53G11
    Conserved Domains (1) summary
    cl00342
    Location:5 → 320
    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. XM_011523974.4 → XP_011522276.1  serine racemase isoform X1

    See identical proteins and their annotated locations for XP_011522276.1

    UniProtKB/Swiss-Prot
    D3DTI5, Q6IA55, Q9GZT4
    UniProtKB/TrEMBL
    Q53G11
    Conserved Domains (1) summary
    cl00342
    Location:5 → 320
    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 ...

  3. XM_006721566.4 → XP_006721629.1  serine racemase isoform X1

    See identical proteins and their annotated locations for XP_006721629.1

    UniProtKB/Swiss-Prot
    D3DTI5, Q6IA55, Q9GZT4
    UniProtKB/TrEMBL
    Q53G11
    Conserved Domains (1) summary
    cl00342
    Location:5 → 320
    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_060941.1 Alternate T2T-CHM13v2.0

    Range
    2190459..2212603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316875.1 → XP_054172850.1  serine racemase isoform X1

    UniProtKB/Swiss-Prot
    D3DTI5, Q6IA55, Q9GZT4

  2. XM_054316874.1 → XP_054172849.1  serine racemase isoform X1

    UniProtKB/Swiss-Prot
    D3DTI5, Q6IA55, Q9GZT4

  3. XM_054316873.1 → XP_054172848.1  serine racemase isoform X1

    UniProtKB/Swiss-Prot
    D3DTI5, Q6IA55, Q9GZT4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9GZT4.1 GenPept UniProtKB/Swiss-Prot:Q9GZT4

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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