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

    Gene ID: 100900, updated on 28-Oct-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, Oct 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 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)
    • 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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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