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    HSCB HscB mitochondrial iron-sulfur cluster cochaperone [ Homo sapiens (human) ]

    Gene ID: 150274, updated on 21-Apr-2019

    Summary

    Official Symbol
    HSCBprovided by HGNC
    Official Full Name
    HscB mitochondrial iron-sulfur cluster cochaperoneprovided by HGNC
    Primary source
    HGNC:HGNC:28913
    See related
    Ensembl:ENSG00000100209 MIM:608142
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JAC1; HSC20; DNAJC20
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 4.7), prostate (RPKM 4.7) and 25 other tissues See more
    Orthologs

    Genomic context

    See HSCB in Genome Data Viewer
    Location:
    22q12.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (28741992..28757518)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29138008..29153506)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 28 Neighboring gene RNA, 7SL, cytoplasmic 162, pseudogene Neighboring gene checkpoint kinase 2 Neighboring gene coiled-coil domain containing 117 Neighboring gene X-box binding protein 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Mitochondrial protein import, organism-specific biosystem (from REACTOME)
      Mitochondrial protein import, organism-specific biosystemA human mitochondrion contains about 1500 proteins, more than 99% of which are encoded in the nucleus, synthesized in the cytosol and imported into the mitochondrion. Proteins are targeted to four lo...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC2637, MGC74462

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATPase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    molecular_function ND
    No biological Data available
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    iron-sulfur cluster assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of ATPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein complex oligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    iron-sulfur cluster co-chaperone protein HscB; iron-sulfur cluster co-chaperone protein HscB, mitochondrial
    Names
    DnaJ (Hsp40) homolog, subfamily C, member 20
    HscB iron-sulfur cluster co-chaperone homolog
    HscB mitochondrial iron-sulfur cluster co-chaperone
    J-type co-chaperone HSC20
    epididymis secretory sperm binding protein

    NCBI Reference Sequences (RefSeq)

    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_001318314.1NP_001305243.1  iron-sulfur cluster co-chaperone protein HscB isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, which results in a frameshift and an early stop codon compared to variant 1. The encoded isoform (2) contains a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AA804625, BC000004, CR979598
      Conserved Domains (1) summary
      cd06257
      Location:72131
      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, ...
    2. NM_001318315.1NP_001305244.1  iron-sulfur cluster co-chaperone protein HscB isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site and lacks an alternate exon in the 3' coding region, which results in a frameshift and an early stop codon compared to variant 1. The encoded isoform (3) contains a shorter and distinct C-terminus compared to isoform 1. Variants 3 and 6 both encode the same isoform (3).
      Source sequence(s)
      AA804625, BC000004, BQ054405
      Consensus CDS
      CCDS82704.1
      UniProtKB/TrEMBL
      B0QYH2
      Related
      ENSP00000381914.2, ENST00000398941.6
      Conserved Domains (1) summary
      cl26852
      Location:72143
      HSCB_C; HSCB C-terminal oligomerization domain
    3. NM_001318316.1NP_001305245.1  iron-sulfur cluster co-chaperone protein HscB isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (4) has a shorter N-terminus and lacks a predicted mitochondrial transit peptide compared to isoform 1.
      Source sequence(s)
      AA804625, BC000004, DW414316, HY057929
      Conserved Domains (1) summary
      pfam07743
      Location:173
      HSCB_C; HSCB C-terminal oligomerization domain
    4. NM_001363856.1NP_001350785.1  iron-sulfur cluster co-chaperone protein HscB isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1. Variants 3 and 6 both encode the same isoform (3).
      Source sequence(s)
      AL117330
      Consensus CDS
      CCDS87014.1
      Conserved Domains (1) summary
      cl26852
      Location:72143
      HSCB_C; HSCB C-terminal oligomerization domain
    5. NM_172002.5NP_741999.3  iron-sulfur cluster co-chaperone protein HscB isoform 1 precursor

      See identical proteins and their annotated locations for NP_741999.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC000004
      Consensus CDS
      CCDS13845.1
      UniProtKB/Swiss-Prot
      Q8IWL3
      Related
      ENSP00000216027.3, ENST00000216027.8
      Conserved Domains (1) summary
      cl26852
      Location:72221
      HSCB_C; HSCB C-terminal oligomerization domain

    RNA

    1. NR_134560.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in an internal exon 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)
      AA804625, BC000004, BG696148
      Related
      ENST00000450178.5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

      Range
      28741992..28757518
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452163.1XP_024307931.1  iron-sulfur cluster co-chaperone protein HscB, mitochondrial isoform X2

      Related
      ENSP00000498960.1, ENST00000651322.1
      Conserved Domains (1) summary
      cl26852
      Location:72143
      HSCB_C; HSCB C-terminal oligomerization domain
    2. XM_017028619.2XP_016884108.1  iron-sulfur cluster co-chaperone protein HscB, mitochondrial isoform X3

      Conserved Domains (1) summary
      pfam07743
      Location:173
      HSCB_C; HSCB C-terminal oligomerization domain
    3. XM_005261359.4XP_005261416.1  iron-sulfur cluster co-chaperone protein HscB, mitochondrial isoform X1

      Conserved Domains (3) summary
      cd06257
      Location:70119
      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, ...
      TIGR00714
      Location:71217
      hscB; Fe-S protein assembly co-chaperone HscB
      pfam07743
      Location:145217
      HSCB_C; HSCB C-terminal oligomerization domain
    4. XM_017028620.2XP_016884109.1  iron-sulfur cluster co-chaperone protein HscB, mitochondrial isoform X3

      Conserved Domains (1) summary
      pfam07743
      Location:173
      HSCB_C; HSCB C-terminal oligomerization domain

    RNA

    1. XR_002958669.1 RNA Sequence

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