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    SRR serine racemase [ Homo sapiens (human) ]

    Gene ID: 63826, updated on 25-Jan-2022

    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 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, Nov 2021]
    Expression
    Ubiquitous expression in brain (RPKM 6.5), testis (RPKM 6.3) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SRR in Genome Data Viewer
    Location:
    17p13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (2303371..2325267)
    105.20201022 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 heart enhancer 8 Neighboring gene uncharacterized LOC101927839 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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
    PubMed 
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in L-serine metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in aging IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in brain development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pyruvate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    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 morphine 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
    PubMed 
    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 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001304803.1NP_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:1171
      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_021947.3NP_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
      Q9GZT4
      UniProtKB/TrEMBL
      Q3ZK31, Q8N3F4
      Related
      ENSP00000339435.5, ENST00000344595.10
      Conserved Domains (1) summary
      cl00342
      Location:5320
      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: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      2303371..2325267
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006721565.3XP_006721628.1  serine racemase isoform X1

      See identical proteins and their annotated locations for XP_006721628.1

      UniProtKB/Swiss-Prot
      Q9GZT4
      Conserved Domains (1) summary
      cl00342
      Location:5320
      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_006721566.3XP_006721629.1  serine racemase isoform X1

      See identical proteins and their annotated locations for XP_006721629.1

      UniProtKB/Swiss-Prot
      Q9GZT4
      Conserved Domains (1) summary
      cl00342
      Location:5320
      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_011523974.3XP_011522276.1  serine racemase isoform X1

      See identical proteins and their annotated locations for XP_011522276.1

      UniProtKB/Swiss-Prot
      Q9GZT4
      Conserved Domains (1) summary
      cl00342
      Location:5320
      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 ...
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