2. Gene
  3. HSCB - HscB mitochondrial iron-sulfur cluster cochaperone Gene

HSCB - HscB mitochondrial iron-sulfur cluster cochaperone Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as JAC1; HSC20; SIDBA5; DNAJC20

Gene ID: 150274 | Gene type: protein coding

About HSCB

Cytogenetic location: 22q12.1 Genomic coordinates (GRCh38): 22:28,742,032-28,757,510 (from NCBI)

Ubiquitous expression in ovary (RPKM 4.7), prostate (RPKM 4.7) and 25 other tissues.

Summary

This gene encodes a DnaJ-type co-chaperone and member of the heat shock cognate B (HscB) family of proteins. The encoded protein plays a role in the synthesis of iron-sulfur clusters, protein cofactors that are involved in the redox reactions of mitochondrial electron transport and other processes. Cells in which this gene is knocked down exhibit reduced activity of iron-sulfur cluster-dependent enzymes including succinate dehydrogenase and aconitase. The encoded protein may stimulate the ATPase activity of the mitochondrial stress-70 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

HSCB Products(5)

mRNA Protein Name
NM_001318314.2 NP_001305243.1 iron-sulfur cluster co-chaperone protein HscB isoform 2 precursor
NM_001318315.2 NP_001305244.1 iron-sulfur cluster co-chaperone protein HscB isoform 3 precursor
NM_001318316.2 NP_001305245.1 iron-sulfur cluster co-chaperone protein HscB isoform 4
NM_001363856.1 NP_001350785.1 iron-sulfur cluster co-chaperone protein HscB isoform 3 precursor
NM_172002.5 NP_741999.3 iron-sulfur cluster co-chaperone protein HscB isoform 1 precursor

HSCB Protein Structure

DnaJ

DnaJ: DnaJ domain (72 - 140)

HSCB_C

HSCB_C: HSCB C-terminal oligomerisation domain (157 - 229)

  • 0
  • 100
  • 200
  • 235 a.a.
Protein Preferred Names Protein Names

iron-sulfur cluster co-chaperone protein HscB

DnaJ (Hsp40) homolog, subfamily C, member 20

Related Diseases

Diseases Alias
Anemia, Sideroblastic, 5

SIDBA5
Sideroblastic Anemia

Anemia Sideroblastic

Anemia, Sideroblastic

Anemia, Hypochromic With Iron Loading
Epilepsy, Juvenile Absence 1

Epilepsy, Juvenile Absence, Susceptibility To, 1

EJA1

JAE1

Juvenile Absence Epilepsy 1

Susceptibility To Juvenile Absence Epilepsy 1

Epilepsy, Juvenile Absence, Susceptibility To, Type 1

Absence Epilepsy
Multiple Mitochondrial Dysfunctions Syndrome 1

MMDS1

Mmds

Nfu1 Deficiency

Multiple Mitochondrial Dysfunctions Syndrome Type 1

Mitochondrial Dysfunctions Syndrome, Multiple, Type 1
Combined Oxidative Phosphorylation Deficiency 19

COXPD19

Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency

Combined Oxidative Phosphorylation Deficiency, Type 19
Pica Disease

Pica
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
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
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
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
Protoporphyria, Erythropoietic, 1

Erythropoietic Protoporphyria

Epp

Ferrochelatase Deficiency

Protoporphyria, Erythropoietic

Erythrohepatic Protoporphyria

Heme Synthetase Deficiency

Autosomal Erythropoietic Protoporphyria

EPP1

Protoporphyria

Protoporphyria Erythropoietic
Autosomal Recessive Cerebellar Ataxia

Arca
Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS06386 HSCB Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus HSCB VGNC VGNC:107710
Macaca mulatta HSCB VGNC VGNC:73454
Mus musculus HSCB MGD MGI:2141135
Canis familiaris HSCB VGNC VGNC:41796
Rattus norvegicus HSCB RGD RGD:1311005
Bos taurus HSCB VGNC VGNC:29964