GLRX5 - glutaredoxin 5 Gene

中文名称：谷氧还蛋白 5

种属: Homo sapiens

同用名: GRX5; PRSA; SIDBA3; SPAHGC; FLB4739; PR01238; PRO1238; C14orf87

基因 ID: 51218 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种进化上保守的线粒体蛋白。它参与铁硫簇的生物发生，这是正常铁稳态所必需的。该基因的突变与常染色体隐性遗传性吡哆醇难治性铁粒幼细胞性贫血有关。[RefSeq 提供，2010 年 5 月]

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 基因产物(1)

mRNA	Protein	Name
NM_016417.3	NP_057501.2	glutaredoxin-related protein 5, mitochondrial precursor

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	24606901	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in [2Fe-2S] cluster assembly	IGI IGI: 通过遗传相互作用推断	23615440	GOA
involved in protein maturation by [2Fe-2S] cluster transfer	IGI IGI: 通过遗传相互作用推断	23615440	GOA
involved in protein maturation by [4Fe-4S] cluster transfer	IGI IGI: 通过遗传相互作用推断	23615440	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of iron-sulfur cluster assembly complex	IPI IPI: 通过物理相互作用推断	27532772	GOA
located in mitochondrial matrix	IDA IDA: 通过直接分析推断	20364084	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

GLRX5 蛋白结构

Glutaredoxin

0
100
157 a.a.

蛋白主名

其他名称

glutaredoxin-related protein 5, mitochondrial

epididymis secretory sperm binding protein

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS05499	GLRX5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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