GLRX5 glutaredoxin 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GLRX5provided by HGNC
Official Full Name: glutaredoxin 5provided by HGNC
Primary source: HGNC:HGNC:20134
See related: Ensembl:ENSG00000182512 MIM:609588; AllianceGenome:HGNC:20134
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: mouse all
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Genomic context

Location:: 14q32.13

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (95535050..95544714)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (89765742..89775402)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (96001387..96011051)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.
Title: GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.
Cluster exchange reactivity of [2Fe-2S]-bridged heterodimeric BOLA1-GLRX5.
Title: Cluster exchange reactivity of [2Fe-2S]-bridged heterodimeric BOLA1-GLRX5.
Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 2 Caused by CYS59TYR BOLA3 Mutation.
Title: Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 2 Caused by CYS59TYR BOLA3 Mutation.
A pathway for assembling [4Fe-4S](2+) clusters in mitochondrial iron-sulfur protein biogenesis.
Title: A pathway for assembling [4Fe-4S](2+) clusters in mitochondrial iron-sulfur protein biogenesis.
GLRX5 rs1007814 showed a statistically marginally significant difference between cases and controls in genotype frequency (case/control: CC 1:6; CT 112:78; TT 752:505, P=0.049361), but no significant differences in allele distribution [odds ratio (OR)=0.852805]In men, we found a minor difference in the genotype frequency (case/control: CC 0:3; CT 72:36; TT 411:280, P=0.037370) and not in allele distribution (OR=1.142857)
Title: Association study of the GLRX5 rs1007814 polymorphism with schizophrenia in the Han Chinese population.
Patients with GLRX5-associated variant nonketotic hyperglycemia had normal development with childhood-onset spastic paraplegia, spinal lesion, and optic atrophy.
Title: Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
crystal structure of GLRX5 revealed a tetrameric organization with the [2Fe-2S] clusters buried in the interior and shielded from the solvent by the conserved beta1-alpha2 loop
Title: The crystal structure of human GLRX5: iron-sulfur cluster co-ordination, tetrameric assembly and monomer activity.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts
Title: Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Sideroblastic anemia 3 MedGen: C4225155 OMIM: 616860 GeneReviews: Not available	Compare labs
Spasticity-ataxia-gait anomalies syndrome MedGen: C4225178 OMIM: 616859 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

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

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S660E (e-PCR)
- UniSTS:151558

RH98225 (e-PCR)
- UniSTS:89751

RH93740 (e-PCR)
- UniSTS:89752

SHGC-141988 (e-PCR)
- UniSTS:171178

RH1627 (e-PCR)
- UniSTS:11703

D14S1246 (e-PCR)
- UniSTS:7643

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 2 iron, 2 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in [2Fe-2S] cluster assembly	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cell redox homeostasis	NAS Non-traceable Author Statement more info	PubMed
involved_in hemopoiesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular iron ion homeostasis	NAS Non-traceable Author Statement more info	PubMed
involved_in iron-sulfur cluster assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in protein maturation by [2Fe-2S] cluster transfer	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein maturation by [4Fe-4S] cluster transfer	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in dendrite	IEA Inferred from Electronic Annotation more info
part_of iron-sulfur cluster assembly complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	NAS Non-traceable Author Statement more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: glutaredoxin-related protein 5, mitochondrial

Names: epididymis secretory sperm binding protein; glutaredoxin 5 homolog; monothiol glutaredoxin-5

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.

Genomic

NG_021217.1 RefSeqGene

Range

5065..14729

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_016417.3 → NP_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, BI834047, BX248075

Consensus CDS

CCDS9936.1

UniProtKB/Swiss-Prot

Q0X088, Q3YML0, Q86SX6, Q86WY3, Q8IZ54

UniProtKB/TrEMBL

A0A384MDT9

Related

ENSP00000328570.4, ENST00000331334.5

Conserved Domains (1) summary

cd03028
Location:45 → 135

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 ...