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Hscb HscB iron-sulfur cluster co-chaperone [ Mus musculus (house mouse) ]

Gene ID: 100900, updated on 9-Dec-2024

Summary

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Official Symbol
Hscbprovided by MGI
Official Full Name
HscB iron-sulfur cluster co-chaperoneprovided by MGI
Primary source
MGI:MGI:2141135
See related
Ensembl:ENSMUSG00000043510 AllianceGenome:MGI:2141135
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Hsc20
Summary
Predicted to enable identical protein binding activity. Involved in primitive erythrocyte differentiation. Located in mitochondrion. Human ortholog(s) of this gene implicated in sideroblastic anemia. Orthologous to human HSCB (HscB mitochondrial iron-sulfur cluster cochaperone). [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in liver E14.5 (RPKM 12.2), liver E14 (RPKM 12.2) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Hscb in Genome Data Viewer
Location:
5 F; 5 53.72 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (110976945..110987647, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (110829070..110839793, complement)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_13967 Neighboring gene predicted gene 15559 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:111239028-111239211 Neighboring gene STARR-seq mESC enhancer starr_13969 Neighboring gene pseudouridine synthase 1 Neighboring gene ES cell cis-regulatory motif 10b Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:111268841-111269029 Neighboring gene unc-51 like kinase 1 Neighboring gene STARR-seq mESC enhancer starr_13970 Neighboring gene checkpoint kinase 2 Neighboring gene tetratricopeptide repeat domain 28 Neighboring gene STARR-seq mESC enhancer starr_13974 Neighboring gene microRNA 701

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia. Crispin A, et al. J Clin Invest, 2020 Oct 1. PMID 32634119, Free PMC Article
  2. Functional genomic landscape of cancer-intrinsic evasion of killing by T cells. Lawson KA, et al. Nature, 2020 Oct. PMID 32968282, Free PMC Article
  3. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
  4. BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Pourhaghighi R, et al. Cell Syst, 2020 Apr 22. PMID 32325033, Free PMC Article
  5. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (1) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC41340

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATPase activator activity IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein-folding chaperone binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in [2Fe-2S] cluster assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in [2Fe-2S] cluster assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in iron-sulfur cluster assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in primitive erythrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in primitive hemopoiesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein complex oligomerization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
iron-sulfur cluster co-chaperone protein HscB
Names
HscB iron-sulfur cluster co-chaperone homolog
J-type co-chaperone HSC20
iron-sulfur cluster co-chaperone protein HscB, mitochondrial

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001359835.2 → NP_001346764.1  iron-sulfur cluster co-chaperone protein HscB isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses and alternate splice site and lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC121934
    Conserved Domains (1) summary
    cl26852
    Location:71 → 142
    HSCB_C; HSCB C-terminal oligomerization domain

  2. NM_001425812.1 → NP_001412741.1  iron-sulfur cluster co-chaperone protein HscB isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC121934

  3. NM_153571.3 → NP_705799.2  iron-sulfur cluster co-chaperone protein HscB isoform 1

    See identical proteins and their annotated locations for NP_705799.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC121934
    Consensus CDS
    CCDS51613.1
    UniProtKB/Swiss-Prot
    Q3V294, Q8K3A0
    UniProtKB/TrEMBL
    A0A0R4J0T0
    Related
    ENSMUSP00000062811.6, ENSMUST00000056937.12
    Conserved Domains (3) summary
    cd06257
    Location:71 → 130
    DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
    PRK03578
    Location:67 → 227
    hscB; co-chaperone HscB; Provisional
    pfam07743
    Location:157 → 228
    HSCB_C; HSCB C-terminal oligomerization domain

RNA

  1. NR_153348.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC121934

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    110976945..110987647 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8K3A0.2 GenPept UniProtKB/Swiss-Prot:Q8K3A0

Gene LinkOut

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