Abcb8 ATP-binding cassette, sub-family B member 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abcb8provided by MGI
Official Full Name: ATP-binding cassette, sub-family B member 8provided by MGI
Primary source: MGI:MGI:1351667
See related: Ensembl:ENSMUSG00000028973 AllianceGenome:MGI:1351667
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: MITOSUR; 4833412N02Rik
Summary: Predicted to enable ATP binding activity and ATPase-coupled transmembrane transporter activity. Predicted to be involved in potassium ion transmembrane transport. Predicted to act upstream of or within potassium ion transport. Located in mitochondrion. Is expressed in several structures, including alimentary system; nervous system; respiratory system; retina; and urinary system. Orthologous to human ABCB8 (ATP binding cassette subfamily B member 8). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in adrenal adult (RPKM 40.2), heart adult (RPKM 32.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 A3; 5 11.57 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (24598679..24617757)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (24393681..24412759)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Augmenter of liver regeneration regulates cellular iron homeostasis by modulating mitochondrial transport of ATP-binding cassette B8.
Title: Augmenter of liver regeneration regulates cellular iron homeostasis by modulating mitochondrial transport of ATP-binding cassette B8.
These results indicate that ABCB8 is essential for normal cardiac function, maintenance of mitochondrial iron homeostasis and maturation of cytosolic Fe/S proteins.
Title: Disruption of ATP-binding cassette B8 in mice leads to cardiomyopathy through a decrease in mitochondrial iron export.

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Variation

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Alleles

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

Gene trapped (1)
Targeted (1) 1 citation
Endonuclease-mediated (2)

General gene information

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Markers

RH125896 (e-PCR)
- UniSTS:162622

RH124903 (e-PCR)
- UniSTS:161725

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ABC-type peptide transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell volume homeostasis	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial potassium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within potassium ion transport	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of mitochondrial ATP-gated potassium channel complex	IPI Inferred from Physical Interaction more info	PubMed
part_of mitochondrial ATP-gated potassium channel complex	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleolus	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: mitochondrial potassium channel ATP-binding subunit

Names: ATP-binding cassette sub-family B member 8, mitochondrial; ATP-binding cassette, sub-family B (MDR/TAP), member 8; mitochondrial sulfonylurea-receptor

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_029020.3 → NP_083296.2 mitochondrial potassium channel ATP-binding subunit precursor

See identical proteins and their annotated locations for NP_083296.2

Status: VALIDATED

Source sequence(s)

AC113055

Consensus CDS

CCDS19118.1

UniProtKB/Swiss-Prot

Q8C695, Q8C7W4, Q9CXJ4

Related

ENSMUSP00000072826.6, ENSMUST00000073076.12

Conserved Domains (1) summary

COG1132
Location:116 → 695

MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

24598679..24617757

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011249790.3 → XP_011248092.1 mitochondrial potassium channel ATP-binding subunit isoform X2

Conserved Domains (3) summary

cd03249
Location:184 → 422

ABC_MTABC3_MDL1_MDL2; ATP-binding cassette domain of a mitochondrial protein MTABC3 and related proteins

cd07346
Location:3 → 52

ABC_6TM_exporters; TM helix 4 [structural motif]

cl38913
Location:1 → 157

ABC_6TM_exporters; Six-transmembrane helical domain of the ATP-binding cassette transporters
XM_006535812.1 → XP_006535875.1 mitochondrial potassium channel ATP-binding subunit isoform X1

See identical proteins and their annotated locations for XP_006535875.1

UniProtKB/Swiss-Prot

Q8C695, Q8C7W4, Q9CXJ4

Related

ENSMUSP00000110729.2, ENSMUST00000115077.8

Conserved Domains (1) summary

COG1132
Location:116 → 695

MdlB; ABC-type multidrug transport system, ATPase and permease component [Defense mechanisms]