Abcb6 ATP-binding cassette, sub-family B member 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abcb6provided by MGI
Official Full Name: ATP-binding cassette, sub-family B member 6provided by MGI
Primary source: MGI:MGI:1921354
See related: Ensembl:ENSMUSG00000026198 AllianceGenome:MGI:1921354
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: 1200005B17Rik
Summary: Enables ABC-type transporter activity. Involved in porphyrin-containing compound metabolic process. Located in endosome and extracellular exosome. Is expressed in several structures, including adrenal gland; alimentary system; central nervous system; hemolymphoid system gland; and liver. Human ortholog(s) of this gene implicated in dyschromatosis universalis hereditaria. Orthologous to human ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group)). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in liver adult (RPKM 38.1), colon adult (RPKM 25.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 C4; 1 38.62 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (75148284..75157066, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (75171640..75180392, complement)

Chromosome 1 - NC_000067.7 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?

homozygous disruption of the Abcb6 gene in mice exacerbates porphyria phenotypes in the mouse model.
Title: The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.
liver extracts from Abcb6-deficient mice suppress P450 expression in human primary hepatocytes, suggest that this mouse model may provide an opportunity to understand the physiological signals and the mechanisms involved in negative regulation of P450s
Title: Functional coupling of ATP-binding cassette transporter Abcb6 to cytochrome P450 expression and activity in liver.
Identify a new role of ABCB6 in preventing atherosclerosis development by dampening platelet production, reactivity, and chemokine (C-C motif) ligand 5 deposition in atherosclerotic lesions.
Title: Deficiency of ATP-binding cassette transporter B6 in megakaryocyte progenitors accelerates atherosclerosis in mice.
Polycyclic aromatic hydrocarbons (PAHs) mediate transcriptional activation of the ATP binding cassette transporter ABCB6 gene via the aryl hydrocarbon receptor (AhR)
Title: Polycyclic aromatic hydrocarbons (PAHs) mediate transcriptional activation of the ATP binding cassette transporter ABCB6 gene via the aryl hydrocarbon receptor (AhR).
Abcb6 is the sole ATP-dependent porphyrin importer, and loss of Abcb6 produces up-regulation of heme and iron pathways necessary for normal development.
Title: ATP-dependent mitochondrial porphyrin importer ABCB6 protects against phenylhydrazine toxicity.
Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea receptor 1 (SUR1)/ABCC8.
Title: Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea receptor 1 (SUR1)/ABCC8.
ABCB6 is uniquely located in the outer mitochondrial membrane and is required for mitochondrial porphyrin uptake
Title: Identification of a mammalian mitochondrial porphyrin transporter.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH127040 (e-PCR)
- UniSTS:207174

NoName (e-PCR)
- UniSTS:234155

RH136427 (e-PCR)
- UniSTS:210415

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ABC-type heme transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ABC-type heme transporter activity	IEA Inferred from Electronic Annotation more info
enables ABC-type heme transporter activity	ISO Inferred from Sequence Orthology more info
enables ABC-type transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables ABC-type transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ABC-type transporter activity	ISO Inferred from Sequence Orthology more info
enables ABC-type transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables efflux transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables efflux transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables heme binding	IBA Inferred from Biological aspect of Ancestor more info
enables heme binding	IEA Inferred from Electronic Annotation more info
enables heme binding	ISO Inferred from Sequence Orthology more info
enables tetrapyrrole binding	ISO Inferred from Sequence Orthology more info
enables tetrapyrrole binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in brain development	IEA Inferred from Electronic Annotation more info
involved_in brain development	ISO Inferred from Sequence Orthology more info
involved_in cellular detoxification of cadmium ion	ISO Inferred from Sequence Orthology more info
involved_in cellular detoxification of cadmium ion	ISS Inferred from Sequence or Structural Similarity more info
involved_in heme metabolic process	ISO Inferred from Sequence Orthology more info
involved_in heme metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in heme transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in heme transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in heme transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in heme transport	ISO Inferred from Sequence Orthology more info
involved_in intracellular copper ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular copper ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in melanosome assembly	ISO Inferred from Sequence Orthology more info
involved_in melanosome assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in porphyrin-containing compound biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in porphyrin-containing compound biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in porphyrin-containing compound metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in porphyrin-containing compound metabolic process	ISO Inferred from Sequence Orthology more info
involved_in skin development	IEA Inferred from Electronic Annotation more info
involved_in skin development	ISO Inferred from Sequence Orthology more info
involved_in tetrapyrrole metabolic process	ISO Inferred from Sequence Orthology more info
involved_in tetrapyrrole metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in early endosome membrane	ISO Inferred from Sequence Orthology more info
located_in early endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endolysosome membrane	ISO Inferred from Sequence Orthology more info
located_in endolysosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	ISO Inferred from Sequence Orthology more info
located_in late endosome membrane	ISO Inferred from Sequence Orthology more info
located_in late endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in melanosome membrane	ISO Inferred from Sequence Orthology more info
located_in melanosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial envelope	ISO Inferred from Sequence Orthology more info
located_in mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial outer 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 multivesicular body membrane	ISO Inferred from Sequence Orthology more info
located_in multivesicular body membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in vacuolar membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ATP-binding cassette sub-family B member 6

Names: ABC-type heme transporter ABCB6; ATP-binding cassette sub-family B member 6, mitochondrial; ATP-binding cassette, sub-family B (MDR/TAP), member 6

NP_076221.1

EC 7.6.2.5

XP_006496615.1

EC 7.6.2.5

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_023732.3 → NP_076221.1 ATP-binding cassette sub-family B member 6

See identical proteins and their annotated locations for NP_076221.1

Status: VALIDATED

Source sequence(s)

AC166150, AI843102, AK004605, AK151165

Consensus CDS

CCDS15065.1

UniProtKB/Swiss-Prot

Q3U7N5, Q3UAZ6, Q9DC29

Related

ENSMUSP00000027396.9, ENSMUST00000027396.15

Conserved Domains (4) summary

cd03253
Location:590 → 825

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

COG5265
Location:329 → 823

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

pfam16185
Location:6 → 255

MTABC_N; Mitochondrial ABC-transporter N-terminal five TM region

cl00549
Location:277 → 544

ABC_membrane; ABC transporter transmembrane region

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_000067.7 Reference GRCm39 C57BL/6J

Range

75148284..75157066 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006496552.4 → XP_006496615.1 ATP-binding cassette sub-family B member 6 isoform X1

Conserved Domains (1) summary

COG5265
Location:41 → 535

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