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OPLAH 5-oxoprolinase, ATP-hydrolysing [ Homo sapiens (human) ]

Gene ID: 26873, updated on 24-Nov-2020

Summary

Official Symbol
OPLAHprovided by HGNC
Official Full Name
5-oxoprolinase, ATP-hydrolysingprovided by HGNC
Primary source
HGNC:HGNC:8149
See related
Ensembl:ENSG00000178814 MIM:614243
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OPLA; OPLAHD; 5-Opase
Summary
The protein encoded by this gene acts as a homodimer, using ATP hydrolysis to catalyze the conversion of 5-oxo-L-proline to L-glutamate. Defects in this gene are a cause of 5-oxoprolinase deficiency (OPLAHD). [provided by RefSeq, Jun 2012]
Expression
Broad expression in testis (RPKM 16.8), kidney (RPKM 6.8) and 20 other tissues See more
Orthologs

Genomic context

See OPLAH in Genome Data Viewer
Location:
8q24.3
Exon count:
28
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (144051266..144064026, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145106167..145115584, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene spermatogenesis and centriole associated 1 Neighboring gene sphingomyelin phosphodiesterase 5 (pseudogene) Neighboring gene microRNA 6846 Neighboring gene exosome component 4 Neighboring gene microRNA 6847 Neighboring gene glycosylphosphatidylinositol anchor attachment 1

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

Phenotypes

Associated conditions

Description Tests
5-Oxoprolinase deficiency
MedGen: C0268525 OMIM: 260005 GeneReviews: Not available
Compare labs
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Human metabolic individuality in biomedical and pharmaceutical research.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • DKFZp434H244

Gene Ontology Provided by GOA

Function Evidence Code Pubs
5-oxoprolinase (ATP-hydrolyzing) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
glutathione biosynthetic process TAS
Traceable Author Statement
more info
 
glutathione metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
5-oxoprolinase
Names
5-oxo-L-prolinase
pyroglutamase
NP_060040.1
XP_011515262.1

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.

Genomic

  1. NG_032671.1 RefSeqGene

    Range
    4990..14416
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_017570.5NP_060040.1  5-oxoprolinase

    See identical proteins and their annotated locations for NP_060040.1

    Status: REVIEWED

    Source sequence(s)
    AC109322, BC142672
    Consensus CDS
    CCDS75802.1
    UniProtKB/Swiss-Prot
    O14841
    Related
    ENSP00000480476.1, ENST00000618853.5
    Conserved Domains (4) summary
    PLN02666
    Location:11258
    PLN02666; 5-oxoprolinase
    pfam01968
    Location:231513
    Hydantoinase_A; Hydantoinase/oxoprolinase
    pfam02538
    Location:7341256
    Hydantoinase_B; Hydantoinase B/oxoprolinase
    pfam05378
    Location:9212
    Hydant_A_N; Hydantoinase/oxoprolinase N-terminal region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    144051266..144064026 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516960.1XP_011515262.1  5-oxoprolinase isoform X1

    Conserved Domains (5) summary
    PLN02666
    Location:961354
    PLN02666; 5-oxoprolinase
    pfam01968
    Location:327609
    Hydantoinase_A; Hydantoinase/oxoprolinase
    pfam02538
    Location:8301352
    Hydantoinase_B; Hydantoinase B/oxoprolinase
    pfam05378
    Location:105308
    Hydant_A_N; Hydantoinase/oxoprolinase N-terminal region
    cl19252
    Location:441
    MreC; rod shape-determining protein MreC

RNA

  1. XR_001745509.1 RNA Sequence

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