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

Gene ID: 150274, updated on 12-Oct-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
109.20190905 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (28741992..28757510)
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 Functions

What'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
 
chaperone binding 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
[2Fe-2S] cluster assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
protein maturation by iron-sulfur cluster transfer IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 
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)

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 (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_001318315.2NP_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
    B0QYH2
    Related
    ENSP00000381914.2, ENST00000398941.6
    Conserved Domains (1) summary
    cl26852
    Location:72143
    HSCB_C; HSCB C-terminal oligomerization domain
  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
    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
    Related
    ENSP00000498960.1, ENST00000651322.1
    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_134560.2 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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    28741992..28757510
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028619.2XP_016884108.1  iron-sulfur cluster co-chaperone protein HscB isoform X3

    Conserved Domains (1) summary
    pfam07743
    Location:173
    HSCB_C; HSCB C-terminal oligomerization domain
  2. XM_005261359.4XP_005261416.1  iron-sulfur cluster co-chaperone protein HscB 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
  3. XM_017028620.2XP_016884109.1  iron-sulfur cluster co-chaperone protein HscB 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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