Abcb5 ATP-binding cassette, sub-family B member 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abcb5provided by MGI
Official Full Name: ATP-binding cassette, sub-family B member 5provided by MGI
Primary source: MGI:MGI:1924956
See related: Ensembl:ENSMUSG00000072791 AllianceGenome:MGI:1924956
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: 9230106F14Rik
Summary: Predicted to enable ATPase-coupled transmembrane transporter activity and efflux transmembrane transporter activity. Involved in eye development. Is integral component of plasma membrane. Is expressed in corneo-scleral junction. Orthologous to human ABCB5 (ATP binding cassette subfamily B member 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward genital fat pad adult (RPKM 9.9) See more
Orthologs: human all
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Genomic context

Location:: 12 F2; 12 63.48 cM

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (118831221..118930169, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (118867486..118966434, complement)

Chromosome 12 - NC_000078.7 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?

Expression of the Stem Cell Marker ABCB5 in Normal and Tumor Tissues.
Title: Expression of the Stem Cell Marker ABCB5 in Normal and Tumor Tissues.
Results suggest that ATP binding cassette subfamily B member 5 ABCB5/Abcb5 upregulates cellular glutathione levels to protect cells from various poisons.
Title: Upregulation of cellular glutathione levels in human ABCB5- and murine Abcb5-transfected cells.
ABCB5 alleles alter susceptibility to haloperidol-induced toxicity (HIT) in mouse and humans.
Title: The role of Abcb5 alleles in susceptibility to haloperidol-induced toxicity in mice and humans.
ATP-binding cassette, sub-family B, member 5 (ABCB5) marks limbal stem cells (LSCs) and is required for LSC maintenance, corneal development and repair
Title: ABCB5 is a limbal stem cell gene required for corneal development and repair.
the helicase HAGE is required for ABCB5+ MMIC-dependent tumor growth through promoting RAS protein expression
Title: The helicase HAGE expressed by malignant melanoma-initiating cells is required for tumor cell proliferation in vivo.
Expression of Abcb5.ts (testis-specific) (AY766239), a transporter consisting of 1255 amino acids and comprising two transmembrane and nucleotide binding domains, is restricted to testis tissue. In contrast, Abcb5.e (AY766238) is ubiquitously expressed.
Title: ABCB5 gene amplification in human leukemia cells.

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Variation

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Alleles

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

Endonuclease-mediated (5)
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

Abcb5 (e-PCR), detects polymorphism
- UniSTS:546616

06.MMHAP63FRB9.seq (e-PCR)
- UniSTS:122862

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info
enables ABC-type xenobiotic transporter activity	IEA Inferred from Electronic Annotation 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 efflux transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in eye development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of membrane potential	ISO Inferred from Sequence Orthology more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in transmembrane transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ATP-binding cassette sub-family B member 5

Names: ABCB5 P-gp; ATP-binding cassette, sub-family B (MDR/TAP), member 5; P-glycoprotein ABCB5

NP_084237.1

EC 7.6.2.2

XP_006516433.1

EC 7.6.2.2

XP_017170734.1

EC 7.6.2.2

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_029961.2 → NP_084237.1 ATP-binding cassette sub-family B member 5

See identical proteins and their annotated locations for NP_084237.1

Status: VALIDATED

Source sequence(s)

AC126277, AC131717, AK020318, AK139832

Consensus CDS

CCDS49198.1

UniProtKB/Swiss-Prot

B5X0E4, W5QLL5

Related

ENSMUSP00000046177.5, ENSMUST00000035515.5

Conserved Domains (3) summary

cd03249
Location:1017 → 1252

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

PTZ00265
Location:48 → 1250

PTZ00265; multidrug resistance protein (mdr1); Provisional

pfam00664
Location:53 → 334

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_000078.7 Reference GRCm39 C57BL/6J

Range

118831221..118930169 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006516370.3 → XP_006516433.1 ATP-binding cassette sub-family B member 5 isoform X1

Conserved Domains (1) summary

PTZ00265
Location:36 → 1238

PTZ00265; multidrug resistance protein (mdr1); Provisional
XM_017315245.2 → XP_017170734.1 ATP-binding cassette sub-family B member 5 isoform X2

Conserved Domains (2) summary

COG1132
Location:34 → 624

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

cd18578
Location:683 → 876

ABC_6TM_Pgp_ABCB1_D2_like; Six-transmembrane helical domain 2 (TMD2) of P-glycoprotein 1 (Pgp) and related proteins