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SRR serine racemase [ Homo sapiens (human) ]

Gene ID: 63826, updated on 21-Dec-2019

Summary

Official Symbol
SRRprovided by HGNC
Official Full Name
serine racemaseprovided by HGNC
Primary source
HGNC:HGNC:14398
See related
Ensembl:ENSG00000167720 MIM:606477
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
Expression
Ubiquitous expression in brain (RPKM 6.5), testis (RPKM 6.3) and 25 other tissues See more
Orthologs

Genomic context

See SRR in Genome Data Viewer
Location:
17p13.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (2303371..2325267)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (2207244..2228553)

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

NHGRI GWAS Catalog

Description
A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese.
NHGRI GWA Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
NHGRI GWA Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
NHGRI GWA Catalog
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
NHGRI GWA 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
ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
D-serine ammonia-lyase activity IEA
Inferred from Electronic Annotation
more info
 
L-serine ammonia-lyase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-serine ammonia-lyase activity IDA
Inferred from Direct Assay
more info
PubMed 
PDZ domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
calcium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
glycine binding ISS
Inferred from Sequence or Structural Similarity
more info
 
magnesium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
pyridoxal phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pyridoxal phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
pyridoxal phosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
serine racemase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine racemase activity IDA
Inferred from Direct Assay
more info
PubMed 
threonine racemase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
threonine racemase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
D-serine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
D-serine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
D-serine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
L-serine biosynthetic process TAS
Traceable Author Statement
more info
 
L-serine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-serine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
aging IEA
Inferred from Electronic Annotation
more info
 
brain development IEA
Inferred from Electronic Annotation
more info
 
protein homotetramerization ISS
Inferred from Sequence or Structural Similarity
more info
 
pyruvate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pyruvate biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
response to lipopolysaccharide IEP
Inferred from Expression Pattern
more info
PubMed 
response to morphine IEA
Inferred from Electronic Annotation
more info
 
serine family amino acid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
apical part of cell IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
neuronal cell body IDA
Inferred from Direct Assay
more info
PubMed 
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)

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 109.20191205

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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