Atp8b1 ATPase phospholipid transporting 8B1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Atp8b1provided by RGD
Official Full Name: ATPase phospholipid transporting 8B1provided by RGD
Primary source: RGD:1308488
See related: EnsemblRapid:ENSRNOG00000024952 AllianceGenome:RGD:1308488
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Enables phosphatidylserine flippase activity. Predicted to be involved in several processes, including apical protein localization; nervous system development; and phospholipid transport. Predicted to act upstream of or within bile acid metabolic process. Located in brush border membrane. 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, Nov 2024]
Expression: Biased expression in Liver (RPKM 103.5), Kidney (RPKM 91.3) and 7 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 18q12.1

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	18	NC_086036.1 (60286605..60427862, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	18	NC_051353.1 (58016382..58157213, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	18	NC_005117.4 (60013388..60152920, complement)

Chromosome 18 - NC_086036.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

the predominant P4 ATPases in pure pancreatic beta cells and human and rat pancreatic islets were ATP8B1, ATP8B2, and ATP9A. ATP8B1 and CDC50A were highly concentrated in ISG
Title: Characterization of P4 ATPase Phospholipid Translocases (Flippases) in Human and Rat Pancreatic Beta Cells: THEIR GENE SILENCING INHIBITS INSULIN SECRETION.
ATP8B1, a P-type aminophospholipid translocase, is enriched in cerebral microvessels and may have a role in plasma membrane lipid transport
Title: Identification of ATP8B1 as a blood-brain barrier-enriched protein.
PFIC1 mutations lead to the complete absence of canalicular expression, whereas in BRIC1/ICP residual protein is expressed in the canalicular membrane.
Title: Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1.
ATP8B1 deficiency predisposes to cholestasis by favoring bile acid-induced injury in the canalicular membrane but does not directly affect FXR expression
Title: ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained.

Submit: New GeneRIF Correction

General gene information

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Markers

D18Chm97 (e-PCR)
- UniSTS:518301

AU049633 (e-PCR)
- UniSTS:146079

RH140076 (e-PCR)
- UniSTS:222157

Gene Ontology Provided by RGD

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	IEA Inferred from Electronic Annotation more info
enables aminophospholipid flippase activity	ISO Inferred from Sequence Orthology more info
enables cardiolipin binding	IEA Inferred from Electronic Annotation more info
enables cardiolipin binding	ISO Inferred from Sequence Orthology more info
enables lipid transporter activity	ISO Inferred from Sequence Orthology more info
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylcholine flippase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylcholine flippase activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylcholine floppase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylserine flippase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphatidylserine floppase 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 translocation	IEA Inferred from Electronic Annotation more info
involved_in aminophospholipid transport	ISO Inferred from Sequence Orthology more info
involved_in apical protein localization	IEA Inferred from Electronic Annotation more info
involved_in apical protein localization	ISO Inferred from Sequence Orthology more info
involved_in bile acid and bile salt transport	IEA Inferred from Electronic Annotation more info
involved_in bile acid and bile salt transport	ISO Inferred from Sequence Orthology more info
involved_in bile acid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within bile acid metabolic process	ISO Inferred from Sequence Orthology more info
involved_in biological_process	ND No biological Data available more info
involved_in inner ear receptor cell development	IEA Inferred from Electronic Annotation more info
involved_in inner ear receptor cell development	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of DNA-templated transcription	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	ISO Inferred from Sequence Orthology more info
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 regulation of chloride 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	IEA Inferred from Electronic Annotation more info
involved_in regulation of microvillus assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of plasma membrane organization	IEA Inferred from Electronic Annotation more info
involved_in regulation of plasma membrane organization	ISO Inferred from Sequence Orthology more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	ISO Inferred from Sequence Orthology more info
involved_in vestibulocochlear nerve formation	IEA Inferred from Electronic Annotation more info
involved_in vestibulocochlear nerve formation	ISO Inferred from Sequence Orthology more info
involved_in xenobiotic transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in xenobiotic transmembrane transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in brush border membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in nuclear body	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	IEA Inferred from Electronic Annotation more info
part_of phospholipid-translocating ATPase complex	ISO Inferred from Sequence Orthology more info
part_of phospholipid-translocating ATPase complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in stereocilium	IEA Inferred from Electronic Annotation more info
located_in stereocilium	ISO Inferred from Sequence Orthology more info
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, Class I, type 8B, member 1; ATPase, aminophospholipid transporter, class I, type 8B, member 1; P4-ATPase flippase complex alpha subunit ATP8B1; probable phospholipid-transporting ATPase IC

NP_001099610.1

EC 7.6.2.1

XP_006254904.1

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_001106140.1 → NP_001099610.1 phospholipid-transporting ATPase IC

See identical proteins and their annotated locations for NP_001099610.1

Status: PROVISIONAL

Source sequence(s)

CH473971

UniProtKB/TrEMBL

A0A8L2QJ69, A6IXP4

Related

ENSRNOP00000038207.7, ENSRNOT00000038652.7

Conserved Domains (6) summary

TIGR01652
Location:92 → 1187

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 → 1181

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_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086036.1 Reference GRCr8

Range

60286605..60427862 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006254842.5 → XP_006254904.1 phospholipid-transporting ATPase IC isoform X1

UniProtKB/Swiss-Prot

D4AA47

Conserved Domains (1) summary

cd02073
Location:94 → 1051

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