GLRX5

Protein identityUniProt · HPA

UniProt accession

Q86SX6

Gene

GLRX5

Ensembl

ENSG00000182512

Chromosome

14

Canonical length

157 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Mitochondria

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

157 residues, UniProt reviewed canonical sequence.

>Q86SX6|GLRX5
     1  MSGSLGRAAA ALLRWGRGAG GGGLWGPGVR AAGSGAGGGG SAEQLDALVK KDKVVVFLKG
    61  TPEQPQCGFS NAVVQILRLH GVRDYAAYNV LDDPELRQGI KDYSNWPTIP QVYLNGEFVG
   121  GCDILLQMHQ NGDLVEELKK LGIHSALLDE KKDQDSK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GLRX5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.38

Highest tissue expression

183 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GLRX5.

Disease | AllUniProt

Conditions GLRX5 is implicated in, by any mechanism.

• Anemia, sideroblastic, 3, pyridoxine-refractory (SIDBA3) MIM:616860
• Spasticity, childhood-onset, with hyperglycinemia (SPAHGC) MIM:616859

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 140 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Sideroblastic anemia 3
• Spasticity-ataxia-gait anomalies syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.66

gnomAD pLI

0.75

gnomAD missense Z

0.22

DepMap mean gene effect

-0.43

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• [2Fe-2S] cluster assembly
• cell redox homeostasis
• hemopoiesis
• intracellular iron ion homeostasis
• iron-sulfur cluster assembly
• protein maturation

Molecular functions

• 2 iron, 2 sulfur cluster binding
• metal ion binding

Cellular components

• dendrite
• iron-sulfur cluster assembly complex
• mitochondrial matrix
• mitochondrion
• neuronal cell body

Protein domainsUniProt · Pfam · InterPro

• Glutaredoxin
• Monothiol glutaredoxin-related
• Glutaredoxin, PICOT-like
• Thioredoxin-like superfamily
• Glutaredoxin

KeywordsUniProt

• 2Fe-2S
• Iron
• Iron-sulfur
• Metal-binding
• Mitochondrion
• Phosphoprotein
• Redox-active center
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of GLRX5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• BOLA1
• ISCU
• BOLA3