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

    Gene ID: 150274, updated on 5-Mar-2024

    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; AllianceGenome:HGNC:28913
    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; SIDBA5; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HSCB in Genome Data Viewer
    Location:
    22q12.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (28742032..28757510)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (29203667..29219144)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29138020..29153498)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 28 Neighboring gene RNA, 7SL, cytoplasmic 162, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29074754-29075258 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:29132277-29132794 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:29132795-29133312 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:29133817-29134317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18805 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18806 Neighboring gene Sharpr-MPRA regulatory region 506 Neighboring gene checkpoint kinase 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:29168461-29168962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29177710-29178210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29178211-29178711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13581 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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Anemia, sideroblastic, 5
    MedGen: C5561985 OMIM: 619523 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC2637, MGC74462

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 iron-sulfur cluster assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in primitive erythrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in primitive hemopoiesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein complex oligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    iron-sulfur cluster co-chaperone protein HscB
    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
    iron-sulfur cluster co-chaperone protein HscB, mitochondrial

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001318314.2NP_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)
      BC000004, CR979598
      Conserved Domains (2) summary
      PRK05014
      Location:72142
      hscB; co-chaperone HscB; Provisional
      pfam18256
      Location:3965
      HscB_4_cys; Co-chaperone HscB tetracysteine metal binding motif
    2. NM_001318315.2NP_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)
      BC000004, BQ054405
      Consensus CDS
      CCDS82704.1
      UniProtKB/TrEMBL
      A8MYY2, B0QYH2
      Related
      ENSP00000381914.2, ENST00000398941.6
      Conserved Domains (2) summary
      PRK05014
      Location:72143
      hscB; co-chaperone HscB; Provisional
      pfam18256
      Location:3965
      HscB_4_cys; Co-chaperone HscB tetracysteine metal binding motif
    3. NM_001318316.2NP_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)
      BC000004, DW414316, HY057929
      Related
      ENST00000495977.1
      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
      UniProtKB/TrEMBL
      A8MYY2, B0QYH2
      Related
      ENSP00000416679.1, ENST00000420442.5
      Conserved Domains (2) summary
      PRK05014
      Location:72143
      hscB; co-chaperone HscB; Provisional
      pfam18256
      Location:3965
      HscB_4_cys; Co-chaperone HscB tetracysteine metal binding motif
    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, Q9BWS7
      UniProtKB/TrEMBL
      A0A384NYJ4
      Related
      ENSP00000216027.3, ENST00000216027.8
      Conserved Domains (1) summary
      cl26852
      Location:72221
      HSCB_C; HSCB C-terminal oligomerization domain

    RNA

    1. NR_134560.2 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)
      BC000004, BG696148
      Related
      ENST00000450178.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      28742032..28757510
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005261359.5XP_005261416.1  iron-sulfur cluster co-chaperone protein HscB isoform X1

      Conserved Domains (1) summary
      PRK05014
      Location:70209
      hscB; co-chaperone HscB; Provisional
    2. XM_017028620.3XP_016884109.1  iron-sulfur cluster co-chaperone protein HscB isoform X2

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      29203667..29219144
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325129.1XP_054181104.1  iron-sulfur cluster co-chaperone protein HscB isoform X1

    2. XM_054325130.1XP_054181105.1  iron-sulfur cluster co-chaperone protein HscB isoform X2