Abcb7 ATP-binding cassette, sub-family B member 7 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abcb7provided by MGI
Official Full Name: ATP-binding cassette, sub-family B member 7provided by MGI
Primary source: MGI:MGI:109533
See related: Ensembl:ENSMUSG00000031333 AllianceGenome:MGI:109533
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: Abc7
Summary: Predicted to enable ABC-type iron-sulfur cluster transporter activity and protein homodimerization activity. Involved in several processes, including intracellular iron ion homeostasis; positive regulation of heme biosynthetic process; and positive regulation of iron-sulfur cluster assembly. Located in mitochondrial inner membrane. Is expressed in several structures, including adrenal gland; central nervous system; gut; hemolymphoid system gland; and retina. Human ortholog(s) of this gene implicated in X-linked sideroblastic anemia with ataxia. Orthologous to human ABCB7 (ATP binding cassette subfamily B member 7). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in liver E14 (RPKM 4.5), cerebellum adult (RPKM 4.1) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: X D; X 46.58 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (103324171..103457452, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (104280565..104413846, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Abcb7 is an essential gene associated with X-linked parent of origin lethality in mice and required for development or maintenance of adult cell lineages.
Title: The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis.
ABC7 positively regulates the expression of extramitochondrial thioredoxin & that of an intramitochondrial iron-sulfur-containing protein, ferrochelatase. ABC7 contributes to the production of heme during the differentiation of erythroid cells.
Title: Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase.

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Variation

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Alleles

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

Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW537380 (e-PCR)
- UniSTS:178992

AU019072 (e-PCR)
- UniSTS:181314

RH124283 (e-PCR)
- UniSTS:161105

Vcp-rs (e-PCR), detects polymorphism
- UniSTS:144749

NoName (e-PCR)
- UniSTS:225264

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ABC-type iron-sulfur cluster transporter activity	ISO Inferred from Sequence Orthology more info
enables ABC-type iron-sulfur cluster transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in intracellular iron ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intracellular iron ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular iron ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular iron ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular iron ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in iron ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in iron ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in iron-sulfur cluster assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in iron-sulfur cluster export from the mitochondrion	ISO Inferred from Sequence Orthology more info
involved_in iron-sulfur cluster export from the mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of reactive oxygen species biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of reactive oxygen species biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of heme biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of heme biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of heme biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of iron-sulfur cluster assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of iron-sulfur cluster assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of iron-sulfur cluster assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	HDA more info	PubMed
is_active_in mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner 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

General protein information

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Preferred Names: iron-sulfur clusters transporter ABCB7, mitochondrial

Names: ABC transporter 7 protein; ATP-binding cassette 7; ATP-binding cassette sub-family B member 7, mitochondrial; ATP-binding cassette transporter 7; ATP-binding cassette, sub-family B (MDR/TAP), member 7

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_009592.1 → NP_033722.1 iron-sulfur clusters transporter ABCB7, mitochondrial

See identical proteins and their annotated locations for NP_033722.1

Status: VALIDATED

Source sequence(s)

AK040069, AK152535, AL663052, BB612154

Consensus CDS

CCDS53167.1

UniProtKB/Swiss-Prot

A2AC46, Q3U7S8, Q61102

Related

ENSMUSP00000033695.6, ENSMUST00000033695.6

Conserved Domains (3) summary

cd03253
Location:472 → 708

ABCC_ATM1_transporter; ATP-binding cassette domain of iron-sulfur clusters transporter, subfamily C

COG5265
Location:210 → 705

ATM1; ABC-type transport system involved in Fe-S cluster assembly, permease and ATPase components [Posttranslational modification, protein turnover, chaperones]

pfam00664
Location:150 → 424

ABC_membrane; ABC transporter transmembrane region