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GLRX5 glutaredoxin 5 [ Homo sapiens (human) ]

Gene ID: 51218, updated on 5-Nov-2017
Official Symbol
GLRX5provided by HGNC
Official Full Name
glutaredoxin 5provided by HGNC
Primary source
HGNC:HGNC:20134
See related
Ensembl:ENSG00000182512 MIM:609588; Vega:OTTHUMG00000171636
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
GRX5; PRSA; SIDBA3; SPAHGC; FLB4739; PR01238; PRO1238; C14orf87
Summary
This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, May 2010]
Expression
Ubiquitous expression in bone marrow (RPKM 64.9), kidney (RPKM 37.3) and 25 other tissues See more
Orthologs
Location:
14q32.13
Exon count:
2
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (95534986..95544718)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (96001323..96011055)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene spectrin repeat containing nuclear envelope family member 3 Neighboring gene uncharacterized LOC101929107 Neighboring gene small Cajal body-specific RNA 13 Neighboring gene small nucleolar RNA host gene 10 Neighboring gene long intergenic non-protein coding RNA 2318 Neighboring gene uncharacterized LOC105370643

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
MedGen: C2673914 OMIM: 205950 GeneReviews: Not available
Compare labs
Sideroblastic anemia 3, pyridoxine-refractory
MedGen: C4225155 OMIM: 616860 GeneReviews: Not available
Compare labs
Spasticity, childhood-onset, with hyperglycinemia
MedGen: C4225178 OMIM: 616859 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol Treatment of diglutathionylated HIV-1 protease (positions 67 and 95) with thioltransferase (glutaredoxin) restores protease activity and generates an enzyme preparation that has 3- to 5-fold greater specific activity relative to the fully reduced form PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC14129

Gene Ontology Provided by GOA

Function Evidence Code Pubs
2 iron, 2 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
electron transfer activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein disulfide oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell redox homeostasis IEA
Inferred from Electronic Annotation
more info
 
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
hemopoiesis ISS
Inferred from Sequence or Structural Similarity
more info
 
protein lipoylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
dendrite IEA
Inferred from Electronic Annotation
more info
 
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
glutaredoxin-related protein 5, mitochondrial
Names
glutaredoxin 5 homolog
monothiol glutaredoxin-5

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_021217.1 RefSeqGene

    Range
    5001..14733
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_016417.2NP_057501.2  glutaredoxin-related protein 5, mitochondrial precursor

    See identical proteins and their annotated locations for NP_057501.2

    Status: REVIEWED

    Source sequence(s)
    AI089763, BC047680, BI259789, BI834047, BX248075
    Consensus CDS
    CCDS9936.1
    UniProtKB/Swiss-Prot
    Q86SX6
    Related
    ENSP00000328570.4, OTTHUMP00000246628, ENST00000331334.4, OTTHUMT00000414550
    Conserved Domains (1) summary
    cd03028
    Location:45135
    GRX_PICOT_like; Glutaredoxin (GRX) family, PKC-interacting cousin of TRX (PICOT)-like subfamily; composed of PICOT and GRX-PICOT-like proteins. The non-PICOT members of this family contain only the GRX-like domain, whereas PICOT contains an N-terminal TRX-like domain ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

    Range
    95534986..95544718
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 Alternate CHM1_1.1

    Range
    95939246..95948981
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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