Atp8b1 ATPase, class I, type 8B, member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp8b1provided by MGI
Official Full Name: ATPase, class I, type 8B, member 1provided by MGI
Primary source: MGI:MGI:1859665
See related: Ensembl:ENSMUSG00000039529 AllianceGenome:MGI:1859665
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: Ic; FIC1
Summary: Enables aminophospholipid flippase activity and cardiolipin binding activity. Involved in several processes, including lipid transport; nervous system development; and sensory perception of sound. Acts upstream of or within bile acid metabolic process. Located in plasma membrane and stereocilium. Is expressed in adrenal gland; alimentary system; and liver. Used to study intrahepatic cholestasis. Human ortholog(s) of this gene implicated in benign recurrent intrahepatic cholestasis 1; intrahepatic cholestasis; intrahepatic cholestasis of pregnancy 1; and progressive familial intrahepatic cholestasis 1. Orthologous to human ATP8B1 (ATPase phospholipid transporting 8B1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in large intestine adult (RPKM 22.0), colon adult (RPKM 19.6) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 E1; 18 37.49 cM

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (64662050..64794342, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (64528979..64661272, complement)

Chromosome 18 - NC_000084.7 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?

Acinar ATP8b1/LPC pathway promotes macrophage efferocytosis and clearance of inflammation during chronic pancreatitis development.
Title: Acinar ATP8b1/LPC pathway promotes macrophage efferocytosis and clearance of inflammation during chronic pancreatitis development.
Matrix Metalloproteinase 7 Expression and Apical Epithelial Defects in Atp8b1 Mutant Mouse Model of Pulmonary Fibrosis.
Title: Matrix Metalloproteinase 7 Expression and Apical Epithelial Defects in Atp8b1 Mutant Mouse Model of Pulmonary Fibrosis.
ATP8B1 is important for proper CFTR expression and function.
Title: The phospholipid flippase ATP8B1 mediates apical localization of the cystic fibrosis transmembrane regulator.
to become apically clustered, Cdc42 requires the interaction between its polybasic region and negatively charged membrane lipids provided by ATP8B1.
Title: ATP8B1-mediated spatial organization of Cdc42 signaling maintains singularity during enterocyte polarization.
The authors show that two of these transporters, ABCB11 and ATP8B1, are functional targets of miR-33, a micro-RNA that is expressed from within an intron of SREBP-2.
Title: miR-33 controls the expression of biliary transporters, and mediates statin- and diet-induced hepatotoxicity.
Flippase ATP8B1 and the floppase ABCB4 have complementary functions in maintaining canalicular membrane integrity.
Title: Complementary functions of the flippase ATP8B1 and the floppase ABCB4 in maintaining canalicular membrane integrity.
results unveil a new paradigm whereby Atp8b1 is a cardiolipin importer whose capacity to remove cardiolipin from lung fluid is exceeded during inflammation or when Atp8b1 is defective
Title: Dynamic regulation of cardiolipin by the lipid pump Atp8b1 determines the severity of lung injury in experimental pneumonia.
Data show that ATP8B1-deficient pups of B6 background gained less weight.
Title: Strain background modifies phenotypes in the ATP8B1-deficient mouse.
show that ATP8B1/Atp8b1 deficiency, both in patients and in Atp8b1(G308V/G308V) mutant mice, causes hearing loss, associated with progressive degeneration of cochlear hair cells
Title: ATP8B1 is essential for maintaining normal hearing.
Increased biliary cholesterol excretion in Atp8b1-deficient mice is independent of Abcg5/8 activity.
Title: Abcg5/8 independent biliary cholesterol excretion in Atp8b1-deficient mice.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI451886 (e-PCR)
- UniSTS:164637

STS-M96982 (e-PCR)
- UniSTS:74382

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled intramembrane lipid transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables aminophospholipid flippase activity	IDA Inferred from Direct Assay more info	PubMed
enables cardiolipin binding	IDA Inferred from Direct Assay more info	PubMed
enables lipid transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylcholine flippase activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylserine flippase activity	ISO Inferred from Sequence Orthology more info
enables transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Golgi organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in aminophospholipid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in apical protein localization	ISO Inferred from Sequence Orthology more info
involved_in bile acid and bile salt transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bile acid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner ear receptor cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in organic anion transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipid translocation	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipid translocation	ISO Inferred from Sequence Orthology more info
involved_in phospholipid transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of chloride transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of microvillus assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of plasma membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vestibulocochlear nerve formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in xenobiotic transmembrane 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 apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in brush border membrane	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
part_of phospholipid-translocating ATPase complex	ISO Inferred from Sequence Orthology more info
is_active_in plasma 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
located_in stereocilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: phospholipid-transporting ATPase IC

Names: ATPase 8B1, p type; ATPase B1, class I; P4-ATPase flippase complex alpha subunit ATP8B1; aminophospholipid translocase; familial intrahepatic cholestasis type I; probable phospholipid-transporting ATPase IC

NP_001001488.2

EC 7.6.2.1

XP_006526168.1

EC 7.6.2.1

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_001001488.3 → NP_001001488.2 phospholipid-transporting ATPase IC

See identical proteins and their annotated locations for NP_001001488.2

Status: VALIDATED

Source sequence(s)

AA242626, AC102268, AC137585, AK036959, BQ714379

Consensus CDS

CCDS29304.1

UniProtKB/Swiss-Prot

Q148W0, Q3U010, Q6R964

Related

ENSMUSP00000025482.9, ENSMUST00000025482.10

Conserved Domains (6) summary

TIGR01652
Location:92 → 1179

ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase

pfam00122
Location:171 → 234

E1-E2_ATPase; E1-E2 ATPase

pfam13246
Location:534 → 628

Cation_ATPase; Cation transport ATPase (P-type)

pfam16209
Location:86 → 142

PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal

pfam16212
Location:919 → 1173

PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal

cl21460
Location:875 → 919

HAD_like; Haloacid Dehalogenase-like Hydrolases

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_000084.7 Reference GRCm39 C57BL/6J

Range

64662050..64794342 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006526105.5 → XP_006526168.1 phospholipid-transporting ATPase IC isoform X1

Conserved Domains (1) summary

cd02073
Location:94 → 903

P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C