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Aliases for HSCB Gene

Aliases for HSCB Gene

  • HscB Mitochondrial Iron-Sulfur Cluster Co-Chaperone 2 3
  • HSC20 3 4 6
  • DnaJ Homolog Subfamily C Member 20 3 4
  • DNAJC20 3 4
  • JAC1 3 6
  • Iron-Sulfur Cluster Co-Chaperone Protein HscB, Mitochondrial 3
  • HscB Iron-Sulfur Cluster Co-Chaperone Homolog (E. Coli) 2
  • HscB Iron-Sulfur Cluster Co-Chaperone Homolog 3
  • DnaJ (Hsp40) Homolog, Subfamily C, Member 20 3
  • J-Type Co-Chaperone HSC20 3
  • DnaJ (Hsp40) Homolog 2
  • Subfamily C 2
  • Member 20 2
  • DJ366L4.2 3

External Ids for HSCB Gene

Summaries for HSCB Gene

GeneCards Summary for HSCB Gene

HSCB (HscB Mitochondrial Iron-Sulfur Cluster Co-Chaperone) is a Protein Coding gene. Diseases associated with HSCB include x-linked sideroblastic anemia with ataxia and bardet-biedl syndrome. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein 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 Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSCB Gene

Genomics for HSCB Gene

Genomic Location for HSCB Gene

Start:
28,742,023 bp from pter
End:
28,757,518 bp from pter
Size:
15,496 bases
Orientation:
Plus strand

Genomic View for HSCB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HSCB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSCB Gene

Regulatory Elements 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

Proteomics data for HSCB Gene at MOPED

Post-translational modifications for HSCB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HSCB Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for HSCB Gene

Domains for HSCB Gene

Gene Families for HSCB Gene

HGNC:
  • DNAJ :Heat shock proteins / DNAJ (HSP40)

Protein Domains for HSCB Gene

UniProtKB/Swiss-Prot:

HSC20_HUMAN
Domain:
  • Contains 1 J domain.:
    • Q8IWL3
Family:
  • Belongs to the HscB family.:
    • Q8IWL3
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: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

Phenotypes for HSCB Gene

GenomeRNAi human phenotypes for HSCB:
genes like me logo Genes that share phenotypes with HSCB: view

miRNA for HSCB Gene

miRTarBase miRNAs that target HSCB

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for HSCB Gene COMPARTMENTS Subcellular localization image for HSCB gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytoskeleton 1
cytosol 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HSCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion TAS 12938016
GO:0005813 centrosome IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with HSCB: view

Pathways 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:0006457 protein folding IEA --
GO:0016226 iron-sulfur cluster assembly IMP 20668094
GO:0051259 protein oligomerization IEA --
genes like me logo Genes that share ontologies with HSCB: view

Compounds for HSCB Gene

(1) HMDB Compounds for HSCB Gene

Compound Synonyms Cas Number PubMed IDs
Iron
  • Armco iron
7439-89-6
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:

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 for HSCB Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HSCB Gene

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.
genes like me logo Genes that share expressions with HSCB: view

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 36
  • 99.43 (n)
  • 98.3 (a)
HSCB 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HSCB 36
  • 87.52 (n)
  • 85.11 (a)
HSCB 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSCB 36
  • 88.79 (n)
  • 85.53 (a)
HSCB 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hscb 36
  • 80.48 (n)
  • 73.5 (a)
Hscb 16
Hscb 37
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HSCB 37
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HSCB 37
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hscb 36
  • 79.91 (n)
  • 73.5 (a)
chicken
(Gallus gallus)
Aves HSCB 36
  • 60.21 (n)
  • 54.05 (a)
HSCB 37
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hscb 36
  • 56.87 (n)
  • 46.93 (a)
zebrafish
(Danio rerio)
Actinopterygii HSCB 37
  • 33 (a)
OneToOne
si:ch211-207k7.4 36
  • 54.53 (n)
  • 46.74 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004722 36
  • 50.41 (n)
  • 36.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta l(3)72Do 36
  • 44.17 (n)
  • 32.04 (a)
l(3)72Do 37
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dnj-15 36
  • 46.35 (n)
  • 32.62 (a)
dnj-15 37
  • 29 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes JAC1 37
  • 24 (a)
OneToOne
JAC1 39
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G06410 36
  • 49.46 (n)
  • 34.41 (a)
rice
(Oryza sativa)
Liliopsida Os12g0456200 36
  • 46.81 (n)
  • 37.16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1107 37
  • 29 (a)
OneToOne
Species with no ortholog for HSCB:
  • 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 MAF
rs714191 -- 28,749,423(+) taagc(C/T)atcta intron-variant
rs717869 -- 28,749,689(+) GGGAC(C/T)GTCAG intron-variant
rs1141915 -- 28,751,522(-) gatcc(G/T)cccgc intron-variant
rs2347446 -- 28,748,905(+) gaggc(C/T)gaagt intron-variant
rs4822987 -- 28,748,512(+) TTTTT(G/T)TTGTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv9895 CNV Gain+Loss 18304495
nsv834169 CNV Loss 17160897

Relevant External Links for HSCB Gene

HapMap Linkage Disequilibrium report
HSCB

Disorders for HSCB Gene

(2) University of Copenhagen DISEASES for HSCB Gene

Relevant External Links for HSCB

Genetic Association Database (GAD)
HSCB
Human Genome Epidemiology (HuGE) Navigator
HSCB
genes like me logo Genes that share disorders with HSCB: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 3 4
  3. 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
  4. 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
  5. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4

Products for HSCB Gene

  • Addgene plasmids for HSCB

Sources for HSCB Gene

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