SRR serine racemase [Homo sapiens (human)] - Gene

Summary

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 heterocyclic compound binding activity. Involved in carboxylic acid metabolic process and response to lipopolysaccharide. Located in cytoplasm and neuronal cell body. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in brain (RPKM 6.5), testis (RPKM 6.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (2303378..2325264)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (2190459..2212603)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (2207237..2228558)

Chromosome 17 - NC_000017.11 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
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?

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.
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.
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.
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.
Impaired serine metabolism complements LRRK2-G2019S pathogenicity in PD patients.
Title: Impaired serine metabolism complements LRRK2-G2019S pathogenicity in PD patients.
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.
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.
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.
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.
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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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 EBI GWAS CatalogPubMed
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47913 (e-PCR)
- UniSTS:5662

G32814 (e-PCR)
- UniSTS:117393

IB3555 (e-PCR)
- UniSTS:28578

D17S1682 (e-PCR)
- UniSTS:40610

NoName (e-PCR)
- UniSTS:481956

D17S1400E (e-PCR)
- UniSTS:150448

A009S27 (e-PCR)
- UniSTS:69350

HSC2GF012 (e-PCR)
- UniSTS:57087

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

EC 4.3.1.17

EC 4.3.1.18

EC 5.1.1.18

NP_068766.1

EC 4.3.1.17

EC 4.3.1.18

EC 5.1.1.18

XP_006721628.1

EC 4.3.1.17

EC 4.3.1.18

EC 5.1.1.18

XP_006721629.1

EC 4.3.1.17

EC 4.3.1.18

EC 5.1.1.18

XP_011522276.1

EC 4.3.1.17

EC 4.3.1.18

EC 5.1.1.18

XP_054172848.1

EC 4.3.1.17

EC 4.3.1.18

EC 5.1.1.18

XP_054172849.1

EC 4.3.1.17

EC 4.3.1.18

EC 5.1.1.18

XP_054172850.1

EC 4.3.1.17

EC 4.3.1.18

EC 5.1.1.18

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_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 ...
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

2303378..2325264

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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 ...
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 ...