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

Summary

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, Nov 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

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_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 more info	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)

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
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
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

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