GLRX5 - glutaredoxin 5 Gene

Also Known as GRX5; PRSA; SIDBA3; SPAHGC; FLB4739; PR01238; PRO1238; C14orf87

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51218

About GLRX5

Cytogenetic location: 14q32.13 Genomic coordinates (GRCh38): 14:95,535,050-95,544,714 (from NCBI)

This gene has 3 transcripts (splice variants), 203 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in bone marrow (RPKM 64.9), kidney (RPKM 37.3) and 25 other tissues.

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]

GLRX5 Products (1)

mRNA Protein Name
NM_016417.3 NP_057501.2 glutaredoxin-related protein 5, mitochondrial precursor
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
24606901 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in [2Fe-2S] cluster assembly IGI
IGI: Inferred from genetic interaction
23615440 GOA
involved in protein maturation by [2Fe-2S] cluster transfer IGI
IGI: Inferred from genetic interaction
23615440 GOA
involved in protein maturation by [4Fe-4S] cluster transfer IGI
IGI: Inferred from genetic interaction
23615440 GOA
Cellular Component GO Annotation Evidence Verweise Source
part of iron-sulfur cluster assembly complex IPI
IPI: Inferred from physical interaction
27532772 GOA
located in mitochondrial matrix IDA
IDA: Inferred from direct assay
20364084 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GLRX5 Protein Structure

Glutaredoxin

Glutaredoxin: Glutaredoxin (54 - 119)

  • 0
  • 100
  • 157 a.a.
Protein Preferred Names Protein Names

glutaredoxin-related protein 5, mitochondrial

  • epididymis secretory sperm binding protein

GLRX5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
GLRX5 Q86SX6 BOLA3 Homo sapiens Q53S33
NMR
34063696
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
  • SIDBA3

  • Adult-Onset Autosomal Recessive Sideroblastic Anemia

  • Glrx5-Related Sideroblastic Anemia

  • Sideroblastic Anemia 3, Pyridoxine-Refractory

Spasticity, Childhood-Onset, With Hyperglycinemia
  • Spasticity-Ataxia-Gait Anomalies Syndrome

  • SPAHGC

  • Childhood-Onset Spasticity With Hyperglycinemia

  • Childhood-Onset Spasticity With Variant Non-Ketotic Hyperglycinemia

Sideroblastic Anemia
  • Anemia Sideroblastic

  • Anemia, Sideroblastic

  • Anemia, Hypochromic With Iron Loading

Far Eastern Spotted Fever
  • Rickettsia Heilongjiangensis Spotted Fever

Anemia, Sideroblastic, 1
  • Xlsa

  • X-Linked Sideroblastic Anemia

  • Hypochromic Anemia

  • Anh1

  • Hereditary Iron-Loading Anemia

  • Anemia, Sideroblastic, X-Linked

  • Anemia, Hereditary Sideroblastic

  • Erythroid 5-Aminolevulinate Synthase Deficiency

  • Hereditary Sideroblastic Anemia

  • SIDBA1

  • Anemia, Hypochromic

  • Sideroblastic Anemia 1

  • Anemia Hypochromic

  • X Chromosome-Linked Sideroblastic Anemia

  • Sideroblastic Anaemia 1

  • X-Linked Sideroblastic Anaemia

  • Anemia Hereditary Sideroblastic

  • Anemia Sex-Linked Hypochromic Sideroblastic

  • Congenital Sideroblastic Anemia

  • Sideroblastic Anemia X-Linked

  • Anemia, Sex-Linked Hypochromic Sideroblastic

  • Congenital Sideroblastic Anaemia

  • X-Linked Pyridoxine-Responsive Sideroblastic Anemia

  • Anemia Congenital Sideroblastic

  • Anemia, Sideroblastic, Type 1

  • Sex-Linked Hypochromic Sideroblastic Anaemia

  • Autosomal Recessive Sideroblastic Anaemia

  • Familial Sex Linked Hypochromic Anaemia

Anemia, Sideroblastic, And Spinocerebellar Ataxia
  • X-Linked Sideroblastic Anemia With Ataxia

  • ASAT

  • X-Linked Sideroblastic Anemia And Ataxia

  • X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia

  • Anemia, Sideroblastic, With Ataxia

  • Anemia Sideroblastic And Spinocerebellar Ataxia

  • Pagon Bird Detter Syndrome

  • Pagon-Bird-Detter Syndrome

  • Xlsa-A

  • X-Linked Sideroblastic Anaemia And Ataxia

  • X-Linked Sideroblastic Anaemia With Ataxia

  • Sideroblastic Anemia With Spinocerebellar Ataxia

  • Xlsa/A

  • Anemia, Sideroblastic, Spinocerebellar Ataxia

  • Sideroblastic Anemia And Ataxia

  • Anemia Sideroblastic, And Spinocerebellar Ataxia

Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
  • SIFD

  • Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome

  • Sifd Syndrome

Combined Oxidative Phosphorylation Deficiency 19
  • COXPD19

  • Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency

  • Combined Oxidative Phosphorylation Deficiency, Type 19

Multiple Mitochondrial Dysfunctions Syndrome
  • Fatal Multiple Mitochondrial Dysfunctions Syndrome

  • Fatal Multiple Mitochondrial Dysfunction Syndrome

  • Mmds

  • Multiple Mitochondrial Dysfunction Syndrome

  • Mitochondrial Dysfunctions, Multiple, Syndrome

  • Multiple Mitochondrial Dysfunctions Syndrome 1

Epidemic Typhus
  • Typhus

  • Typhus Fever

  • Epidemic Louse-Borne Typhus Fever Due To Rickettsia Prowazekii

  • Murine Typhus

  • Classical Typhus

  • Endemic Flea-Borne Typhus

  • Endemic Typhus Fever

  • Epidemic Louse-Borne Typhus

  • Famine Fever

  • Flea-Borne Typhus

  • Jail Fever

  • Louse-Borne Typhus

  • Mexican Typhus

  • Shop Typhus

  • Urban Typhus

  • Brill-Zinsser Disease

  • Endemic Typhus

  • Sylvatic Typhus

  • Epidemic Typhus

  • European Typhus

  • Exanthematic Typhus Fever

  • Exanthematous Typhus

  • Flea Typhus

  • Flea-Borne Rickettsiosis

  • Hospital Fever

  • Louse-Borne [Epidemic] Typhus

  • Louse-Borne Rickettsiosis

  • Moscow Typhus

  • Murine [Endemic] Typhus

  • Petechial Fever

  • Prison Fever

  • Rat Flea Typhus

  • Ship Fever

  • Typhus Exanthematique

  • Typhus, Endemic Flea-Borne

  • Typhus, Epidemic Louse-Borne

  • Typhus Group Rickettsial Disease

  • Relapsing Fever

  • Typhus Fever Nos

  • Typhus Nos

  • Epidemic Typhus Fever

  • Louse-Borne Typhus Fever

  • Classical Typhus Fever

  • Louse-Borne Tabardillo

  • Epidemic Typhus Fever Due To Rickettsia Prowazekii

  • Endemic Murine Typhus

  • Flea-Borne Typhus Fever

  • Murine Endemic Flea Typhus

  • Rat Typhus

  • Typhus Due To Rickettsia Typhi

  • Flea-Borne Tabardillo

  • Rickettsia Typhi Rickettsiosis

  • Mexican Fever

  • Murine Flea-Borne Typhus

  • Mooser Bodies

  • Tsutsugamushi Fever

  • Kedani Fever

  • Mite-Borne Typhus

  • Mite-Borne Typhus Due To Rickettsia Tsutsugamushi

  • Scrub Typhus

  • Tsutsugamushi

  • Tsutsugamushi Disease

  • Scrub Mite-Borne Typhus

  • Sumatran Mite Fever

  • Japanese River Fever

  • Kedani Typhus

  • Rickettsia Tsutsugamushi Rickettsiosis

  • Sumatran Mite Typhus

  • Tropical Typhus

  • Japanese Typhus

Brill-Zinsser Disease
  • Recrudescent Typhus

  • Brill Disease

  • Brill Zinsser Disease

  • Brill'S Disease

  • Latent Typhus

  • Sporadic Typhus

  • Typhus, Epidemic Louse-Borne

  • Recrudescent Typhus Due To Rickettsia Prowazekii

  • Recrudescent Typhus Fever

  • Recrudescent Brill-Zinsser Typhus Due To Rickettsia Prowazekii

  • Recrudescent Brill Disease

  • Recrudescent Typhus Fever Due To Rickettsia Prowazekii

Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
  • Multiple Mitochondrial Dysfunctions Syndrome 2

  • MMDS2

  • Bola3 Deficiency

  • Multiple Mitochondrial Dysfunctions Syndrome Type 2

  • Mitochondrial Dysfunctions Syndrome, Multiple, Type 2

Multiple Mitochondrial Dysfunctions Syndrome 3
  • MMDS3

  • Iba57 Deficiency

  • Multiple Mitochondrial Dysfunctions Syndrome Type 3

  • Mitochondrial Dysfunctions, Multiple, Syndrome, Type 3

Multiple Mitochondrial Dysfunctions Syndrome 1
  • MMDS1

  • Mmds

  • Nfu1 Deficiency

  • Multiple Mitochondrial Dysfunctions Syndrome Type 1

  • Mitochondrial Dysfunctions Syndrome, Multiple, Type 1

Glycine Encephalopathy
  • Non-Ketotic Hyperglycinemia

  • Nonketotic Hyperglycinemia

  • NKH

  • GCE

  • Hyperglycinemia, Nonketotic

  • Hyperglycinemia Nonketotic

  • Infantile Glycine Encephalopathy

  • Encephalopathy, Glycine

  • Glycine Synthase Deficiency

  • Nka

  • Neonatal Glycine Encephalopathy

  • Classic Glycine Encephalopathy

  • Neonatal Nkh

  • Neonatal Non-Ketotic Hyperglycinemia

  • Infantile Nkh

  • Infantile Non-Ketotic Hyperglycinemia

  • Non-Ketotic Hyperglycinaemia

  • Glycine Cleavage Deficiency

  • Nonketotic Hyperglycinaemia

Pearson Marrow-Pancreas Syndrome
  • Pearson Syndrome

  • Sideroblastic Anemia With Marrow Cell Vacuolization And Exocrine Pancreatic Dysfunction

  • Pearson'S Marrow/Pancreas Syndrome

  • Pearson'S Syndrome

  • Pearson'S Marrow-Pancreas Syndrome

Friedreich Ataxia
  • Friedreich Ataxia 1

  • FRDA

  • Friedreich Ataxia With Retained Reflexes

  • Frda1

  • Fa

  • Friedreich'S Ataxia

  • Hereditary Spinal Ataxia

  • Fa1

  • Friedreich'S Tabes

  • Hereditary Spinal Sclerosis

  • Spinocerebellar Ataxia, Friedreich

  • Friedreich Spinocerebellar Ataxia

  • Friedrich'S Ataxia

Protoporphyria, Erythropoietic, 1
  • Erythropoietic Protoporphyria

  • Epp

  • Ferrochelatase Deficiency

  • Protoporphyria, Erythropoietic

  • Erythrohepatic Protoporphyria

  • Heme Synthetase Deficiency

  • Autosomal Erythropoietic Protoporphyria

  • EPP1

  • Protoporphyria

  • Protoporphyria Erythropoietic

Microcytic Anemia
  • Iron-Refractory Iron Deficiency Anemia

Leukodystrophy
  • Leukodystrophies

Aplastic Anemia
  • Aplastic Anemia, Susceptibility To

  • Anemia Aplastic

  • Idiopathic Aplastic Anemia

  • Secondary Aplastic Anemia

  • Idiopathic Bone Marrow Failure

  • Aplastic Anemia Idiopathic

  • AA

  • Anemia, Aplastic

  • Aplastic Anemia, Idiopathic

  • Erythroid Aplasia

  • Aa - [Aplastic Anaemia]

  • Haematopoietic Aplasia

  • Aleukia Haemorrhagica

  • Anaemia Due To Decreased Red Cell Production

  • Aplasia Bone Marrow

  • Aplastic Bone Marrow

  • Hypoplastic Anaemia Nos

  • Myeloid Bone Marrow Aplasia

  • Pancytopenia

  • Panhaematopenia

  • Hypoproliferative Anaemia

  • Medullary Hypoplasia

  • Red Blood Cells Hypoplastic Anaemia

  • Panmyelophthisis

  • Panhemocytopenia

  • Refractive Hypoproliferative Anaemia

  • Toxic Anaemia

  • Toxic Aplastic Anaemia

  • Aplastic Anaemia Due To Toxic Cause

  • Idiopathic Aplastic Anaemia Nos

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus GLRX5 RGD RGD:1308383
Felis catus GLRX5 VGNC VGNC:62593
Bos taurus GLRX5 VGNC VGNC:29418
Mus musculus GLRX5 MGD MGI:1920296
Macaca mulatta GLRX5 VGNC VGNC:108299
Canis familiaris GLRX5 VGNC VGNC:50528
Others GLRX5 NCBI