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Aliases for HSCB Gene

Aliases for HSCB Gene

  • HscB Mitochondrial Iron-Sulfur Cluster Cochaperone 2 3 5
  • DnaJ (Hsp40) Homolog, Subfamily C, Member 20 2 3
  • DNAJC20 3 4
  • HSC20 3 4
  • Iron-Sulfur Cluster Co-Chaperone Protein HscB, Mitochondrial 3
  • HscB Iron-Sulfur Cluster Co-Chaperone Homolog (E. Coli) 2
  • HscB Mitochondrial Iron-Sulfur Cluster Co-Chaperone 3
  • HscB Iron-Sulfur Cluster Co-Chaperone Homolog 3
  • DnaJ Homolog Subfamily C Member 20 4
  • J-Type Co-Chaperone HSC20 3
  • JAC1 3

External Ids for HSCB Gene

Previous GeneCards Identifiers for HSCB Gene

  • GC22P027468
  • GC22P029138
  • GC22P012103

Summaries for HSCB Gene

Entrez Gene Summary for HSCB Gene

  • 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]

GeneCards Summary for HSCB Gene

HSCB (HscB Mitochondrial Iron-Sulfur Cluster Cochaperone) is a Protein Coding gene. Diseases associated with HSCB include X-Linked Sideroblastic Anemia With Ataxia. Among its related pathways are Metabolism of proteins and Mitochondrial protein import. GO annotations related to this gene include chaperone binding.

UniProtKB/Swiss-Prot for HSCB Gene

  • Acts as a co-chaperone in iron-sulfur cluster assembly in mitochondria.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSCB Gene

Genomics for HSCB Gene

Regulatory Elements for HSCB Gene

Enhancers for HSCB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G028759 1.4 Ensembl ENCODE dbSUPER 9.2 +18.6 18579 2.3 FOXA2 MLX ARID4B SP5 REST PPARG MIER3 GLIS1 RCOR2 ETV4 HSCB ENSG00000272858 CCDC117 CHEK2
GH22G028922 1.8 FANTOM5 Ensembl ENCODE dbSUPER 6.6 +181.8 181799 2.5 FOXA2 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 ZNF121 SP5 NFYC ZNRF3 C22orf31 HSCB CHEK2 GC22P028904 ZNRF3-IT1
GH22G028807 2 FANTOM5 Ensembl ENCODE dbSUPER 5.8 +74.3 74271 18.1 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 CCDC117 C22orf31 ZNRF3 ENSG00000272858 XBP1 HSCB TTC28 CHEK2 EMID1 GC22M028836
GH22G028791 1.7 FANTOM5 Ensembl ENCODE dbSUPER 5.4 +50.5 50502 2.0 ZFP64 YY1 ZNF121 PAF1 ZNF263 SP5 JUNB PPARG ZNF623 TBX21 ZNRF3 ENSG00000272858 HSCB CHEK2 PIR46010 XBP1
GH22G028772 1.3 ENCODE dbSUPER 6.1 +31.3 31336 2.5 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A YY1 ZNF766 ZNF207 ENSG00000272858 ZNRF3 HSCB CHEK2 CCDC117 PIR46010
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HSCB on UCSC Golden Path with GeneCards custom track

Promoters for HSCB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000144944 -1 2001 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A FEZF1 DMAP1 YBX1 YY1

Genomic Location for HSCB Gene

Chromosome:
22
Start:
28,742,001 bp from pter
End:
28,757,518 bp from pter
Size:
15,518 bases
Orientation:
Plus strand

Genomic View for HSCB Gene

Genes around HSCB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSCB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSCB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSCB Gene

Proteins for HSCB Gene

  • Protein details for HSCB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWL3-HSC20_HUMAN
    Recommended name:
    Iron-sulfur cluster co-chaperone protein HscB, mitochondrial
    Protein Accession:
    Q8IWL3
    Secondary Accessions:
    • Q9BWS7

    Protein attributes for HSCB Gene

    Size:
    235 amino acids
    Molecular mass:
    27422 Da
    Quaternary structure:
    • Interacts with ISCU and HSPA9.

    Three dimensional structures from OCA and Proteopedia for HSCB Gene

neXtProt entry for HSCB Gene

Post-translational modifications for HSCB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HSCB Gene

Domains & Families for HSCB Gene

Gene Families for HSCB Gene

Protein Domains for HSCB Gene

Suggested Antigen Peptide Sequences for HSCB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IWL3

UniProtKB/Swiss-Prot:

HSC20_HUMAN :
  • Belongs to the HscB family.
Family:
  • Belongs to the HscB family.
genes like me logo Genes that share domains with HSCB: view

Function for HSCB Gene

Molecular function for HSCB Gene

UniProtKB/Swiss-Prot Function:
Acts as a co-chaperone in iron-sulfur cluster assembly in mitochondria.

Gene Ontology (GO) - Molecular Function for HSCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001671 ATPase activator activity IEA --
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 20668094
GO:0046872 metal ion binding IEA --
GO:0051087 chaperone binding IEA --
genes like me logo Genes that share ontologies with HSCB: view
genes like me logo Genes that share phenotypes with HSCB: view

Animal Model Products

CRISPR Products

miRNA for HSCB Gene

miRTarBase miRNAs that target HSCB

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HSCB
  • Applied Biological Materials Clones for HSCB

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HSCB Gene

Localization for HSCB Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSCB Gene

Cytoplasm. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSCB gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 2
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for HSCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IEA,IDA 20668094
GO:0005739 mitochondrion IDA,TAS 12938016
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with HSCB: view

Pathways & Interactions for HSCB Gene

genes like me logo Genes that share pathways with HSCB: view

Pathways by source for HSCB Gene

2 Reactome pathways for HSCB Gene

UniProtKB/Swiss-Prot Q8IWL3-HSC20_HUMAN

  • Pathway: Cofactor biosynthesis; iron-sulfur cluster biosynthesis.

Gene Ontology (GO) - Biological Process for HSCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016226 iron-sulfur cluster assembly IMP 20668094
GO:0032781 positive regulation of ATPase activity IEA --
GO:0051259 protein oligomerization IEA --
GO:0097428 protein maturation by iron-sulfur cluster transfer IEA --
genes like me logo Genes that share ontologies with HSCB: view

No data available for SIGNOR curated interactions for HSCB Gene

Drugs & Compounds for HSCB Gene

(1) Additional Compounds for HSCB Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with HSCB: view

Transcripts for HSCB Gene

Unigene Clusters for HSCB Gene

HscB iron-sulfur cluster co-chaperone homolog (E. coli):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HSCB
  • Applied Biological Materials Clones for HSCB

Alternative Splicing Database (ASD) splice patterns (SP) for HSCB Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b
SP1: -
SP2:
SP3:

Relevant External Links for HSCB Gene

GeneLoc Exon Structure for
HSCB
ECgene alternative splicing isoforms for
HSCB

Expression for HSCB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HSCB Gene

Protein differential expression in normal tissues from HIPED for HSCB Gene

This gene is overexpressed in Heart (27.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HSCB Gene



Protein tissue co-expression partners for HSCB Gene

NURSA nuclear receptor signaling pathways regulating expression of HSCB Gene:

HSCB

SOURCE GeneReport for Unigene cluster for HSCB Gene:

Hs.632780

mRNA Expression by UniProt/SwissProt for HSCB Gene:

Q8IWL3-HSC20_HUMAN
Tissue specificity: Expressed in lung, brain, stomach, spleen, ovary, testis, liver, muscle and heart.

Evidence on tissue expression from TISSUES for HSCB Gene

  • Eye(4.1)
genes like me logo Genes that share expression patterns with HSCB: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HSCB Gene

Orthologs for HSCB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HSCB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HSCB 34 35
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia HSCB 34 35
  • 88.79 (n)
cow
(Bos Taurus)
Mammalia HSCB 34 35
  • 87.52 (n)
mouse
(Mus musculus)
Mammalia Hscb 34 16 35
  • 80.48 (n)
rat
(Rattus norvegicus)
Mammalia Hscb 34
  • 79.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HSCB 35
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HSCB 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSCB 34 35
  • 60.21 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia hscb 34
  • 56.87 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-207k7.4 34
  • 54.53 (n)
HSCB 35
  • 33 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004722 34
  • 50.41 (n)
fruit fly
(Drosophila melanogaster)
Insecta l(3)72Do 34 35
  • 44.17 (n)
worm
(Caenorhabditis elegans)
Secernentea dnj-15 35 34
  • 46.35 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes JAC1 35 37
  • 24 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G06410 34
  • 49.46 (n)
rice
(Oryza sativa)
Liliopsida Os12g0456200 34
  • 46.81 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1107 35
  • 29 (a)
OneToOne
Species where no ortholog for HSCB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HSCB Gene

ENSEMBL:
Gene Tree for HSCB (if available)
TreeFam:
Gene Tree for HSCB (if available)

Paralogs for HSCB Gene

No data available for Paralogs for HSCB Gene

Variants for HSCB Gene

Sequence variations from dbSNP and Humsavar for HSCB Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs869312550 Likely benign 28,741,633(-) CTCTC(C/T)TCCTT intron-variant, upstream-variant-2KB
rs730881693 Uncertain significance 28,741,772(-) GCTCA(C/T)GCGGT upstream-variant-2KB, utr-variant-5-prime
rs886037743 Uncertain significance 28,741,771(-) CTCAC(-/C)GCGGT upstream-variant-2KB, utr-variant-5-prime
rs886057329 Uncertain significance 28,741,787(-) TGCGG(C/T)TCCAG upstream-variant-2KB, utr-variant-5-prime
rs886057330 Uncertain significance 28,741,806(-) GCTGA(C/G)GCTGC upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for HSCB Gene

Variant ID Type Subtype PubMed ID
esv3647518 CNV loss 21293372
esv3647519 CNV loss 21293372
esv3647520 CNV loss 21293372
nsv1064079 CNV gain 25217958
nsv834169 CNV loss 17160897
nsv9895 CNV gain+loss 18304495

Variation tolerance for HSCB Gene

Residual Variation Intolerance Score: 49.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.82; 47.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HSCB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSCB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSCB Gene

Disorders for HSCB Gene

MalaCards: The human disease database

(1) MalaCards diseases for HSCB Gene - From: DISEASES

Disorder Aliases PubMed IDs
x-linked sideroblastic anemia with ataxia
  • anemia, sideroblastic, and spinocerebellar ataxia
- elite association - COSMIC cancer census association via MalaCards
Search HSCB in MalaCards View complete list of genes associated with diseases

Relevant External Links for HSCB

Genetic Association Database (GAD)
HSCB
Human Genome Epidemiology (HuGE) Navigator
HSCB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSCB
genes like me logo Genes that share disorders with HSCB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HSCB Gene

Publications for HSCB Gene

  1. Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J- type co-chaperone. (PMID: 12938016) Sun G. … Vickery L.E. (J. Hum. Genet. 2003) 2 3 4 22 64
  2. Characterization of the human HSC20, an unusual DnaJ type III protein, involved in iron-sulfur cluster biogenesis. (PMID: 20668094) Uhrigshardt H. … Rouault T.A. (Hum. Mol. Genet. 2010) 3 4 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. Structure of human J-type co-chaperone HscB reveals a tetracysteine metal-binding domain. (PMID: 18713742) Bitto E. … Phillips G.N. Jr. (J. Biol. Chem. 2008) 3 4 64
  5. The diversity of the DnaJ/Hsp40 family, the crucial partners for Hsp70 chaperones. (PMID: 16952052) Qiu X.B. … Wang L. (Cell. Mol. Life Sci. 2006) 2 3 64

Products for HSCB Gene

  • Addgene plasmids for HSCB

Sources for HSCB Gene

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