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

Gene ID: 150274, updated on 22-Sep-2022

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
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Genomic context

See HSCB in Genome Data Viewer
Location:
22q12.1
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (28742032..28757510)
110 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 checkpoint kinase 2 Neighboring gene coiled-coil domain containing 117 Neighboring gene X-box binding protein 1

Genomic regions, transcripts, and products

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
not available

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

Homology

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 chaperone binding 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 
Process Evidence Code Pubs
involved_in [2Fe-2S] cluster assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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)

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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_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
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)