Atp8a1 ATPase phospholipid transporting 8A1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp8a1provided by MGI
Official Full Name: ATPase phospholipid transporting 8A1provided by MGI
Primary source: MGI:MGI:1330848
See related: Ensembl:ENSMUSG00000037685 AllianceGenome:MGI:1330848
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: APLT; Atp3a2; ClassI; B230107D19Rik
Summary: Enables phosphatidylserine flippase activity. Involved in learning; positive regulation of cell migration; and regulation of membrane lipid distribution. Located in cytoplasmic vesicle and organelle membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Orthologous to human ATP8A1 (ATPase phospholipid transporting 8A1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in lung adult (RPKM 16.4), cortex adult (RPKM 15.1) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 C3.1; 5 36.15 cM

Exon count:: 39

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (67775482..68004822, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (67618139..67847484, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Adaptor protein AP-3 produces synaptic vesicles that release at high frequency by recruiting phospholipid flippase ATP8A1.
Title: Adaptor protein AP-3 produces synaptic vesicles that release at high frequency by recruiting phospholipid flippase ATP8A1.
Atp8a1 deletion increases the proliferative activity of hematopoietic stem cells by impairing PTEN function.
Title: Atp8a1 deletion increases the proliferative activity of hematopoietic stem cells by impairing PTEN function.
ATP8a1, an IFT27 binding partner, is dispensable for spermatogenesis and male fertility.
Title: ATP8a1, an IFT27 binding partner, is dispensable for spermatogenesis and male fertility.
ATP8A1 is cleaved by the cysteine protease calpain during apoptosis, and the cleavage is prevented indirectly by caspase inhibition, involving blockage of calcium influx into platelets and subsequent calpain activation.
Title: Calpain cleaves phospholipid flippase ATP8A1 during apoptosis in platelets.
In a sociability test, the Atp8a1+ mice displayed no preference for an encaged stranger mouse over a novel object, which is a characteristic autistic-like behavior. In sharp contrast, Atp8a1 (-/-) mice displayed a preference for a stranger mouse over the novel object, which is characteristic of neurotypical mouse behavior.
Title: Aberrant hippocampal Atp8a1 levels are associated with altered synaptic strength, electrical activity, and autistic-like behavior.
The data of this study strongly indicated that Atp8a1 plays a central role in the PM-APLT activity of some mammalian cells.
Title: Atp8a1 deficiency is associated with phosphatidylserine externalization in hippocampus and delayed hippocampus-dependent learning.
APLT has a role in macrophage-induced nitrosylation/oxidation plays an important role in cell clearance
Title: Nitrosative stress inhibits the aminophospholipid translocase resulting in phosphatidylserine externalization and macrophage engulfment: implications for the resolution of inflammation.
Such observations suggest tissue-specific differences in transcription initiation complex assembly and regulation of ATPase II gene expression.
Title: Isolation, sequencing, and functional analysis of the TATA-less murine ATPase II promoter and structural analysis of the ATPase II gene.
ATPase activity of the secretory granule Atp8a1 is activated by phospholipids binding to a specific site
Title: Lipid specific activation of the murine P4-ATPase Atp8a1 (ATPase II).
role in normal phospholipid distribution in the bilayer, and for normal binding, penetration, and signaling by the zona pellucida
Title: A novel aminophospholipid transporter exclusively expressed in spermatozoa is required for membrane lipid asymmetry and normal fertilization.

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Variation

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Alleles

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

Targeted (2)
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:234107

D5Ncnp5 (e-PCR), detects polymorphism
- UniSTS:225664

AI481521 (e-PCR)
- UniSTS:159384

Atp8a1 (e-PCR), detects polymorphism
- UniSTS:527265

AW822227 (e-PCR)
- UniSTS:207798

AW743152 (e-PCR)
- UniSTS:207801

NoName (e-PCR)
- UniSTS:235195

Atp8a1 (e-PCR), detects polymorphism
- UniSTS:496842

AI853962 (e-PCR)
- UniSTS:179179

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 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 phosphatidylserine flippase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphatidylserine flippase activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in aminophospholipid translocation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in aminophospholipid translocation	ISO Inferred from Sequence Orthology more info
involved_in learning	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid transport	IEA Inferred from Electronic Annotation more info
involved_in phospholipid translocation	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipid transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of phospholipid translocation	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle endocytosis	EXP Inferred from Experiment more info	PubMed
involved_in synaptic vesicle endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle endocytosis	IEP Inferred from Expression Pattern more info	PubMed
involved_in synaptic vesicle endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	EXP Inferred from Experiment more info	PubMed
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in organelle membrane	IDA Inferred from Direct Assay more info	PubMed
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	ISO Inferred from Sequence Orthology more info
is_active_in synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in synaptic vesicle membrane	EXP Inferred from Experiment more info	PubMed
is_active_in synaptic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in synaptic vesicle membrane	IEP Inferred from Expression Pattern more info	PubMed
is_active_in synaptic vesicle membrane	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in synaptic vesicle membrane	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 IA

Names: ATPase 8A1, aminophospholipid transporter (APLT), class I; ATPase 8A1, p type; ATPase class I type 8A member 1; ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1; P4-ATPase flippase complex alpha subunit ATP8A1; chromaffin granule ATPase II; probable phospholipid-transporting ATPase IA

NP_001034088.1

EC 7.6.2.1

NP_001271274.1

EC 7.6.2.1

NP_033857.1

EC 7.6.2.1

XP_006503766.1

EC 7.6.2.1

XP_011239000.1

EC 7.6.2.1

XP_017176112.1

EC 7.6.2.1

XP_017176113.1

EC 7.6.2.1

XP_036020643.1

EC 7.6.2.1

XP_036020644.1

EC 7.6.2.1

XP_036020645.1

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_001038999.2 → NP_001034088.1 phospholipid-transporting ATPase IA isoform a

See identical proteins and their annotated locations for NP_001034088.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes isoform a.

Source sequence(s)

AC123662, AK045367, AK151709, BC094235

Consensus CDS

CCDS39104.1

UniProtKB/Swiss-Prot

P70704, Q8BR88

UniProtKB/TrEMBL

A1L332

Related

ENSMUSP00000042215.9, ENSMUST00000037380.15

Conserved Domains (6) summary

TIGR01652
Location:49 → 1086

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

pfam00122
Location:106 → 191

E1-E2_ATPase; E1-E2 ATPase

pfam13246
Location:486 → 581

Cation_ATPase; Cation transport ATPase (P-type)

pfam16209
Location:38 → 100

PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal

pfam16212
Location:827 → 1079

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

cl21460
Location:796 → 825

HAD_like; Haloacid Dehalogenase-like Hydrolases
NM_001284345.1 → NP_001271274.1 phospholipid-transporting ATPase IA isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate exon and contains a different alternate exon in the 5' coding region, compared to variant 1. It encodes isoform c, which is of the same size but lacks an internal segment, compared to isoform a.

Source sequence(s)

AC123662, AK045367, AK141559, AK151709, BC094235

Consensus CDS

CCDS80295.1

UniProtKB/TrEMBL

A0A0M3HEP7, A1L332

Related

ENSMUSP00000072738.8, ENSMUST00000072971.13

Conserved Domains (6) summary

TIGR01652
Location:49 → 1086

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

pfam00122
Location:106 → 191

E1-E2_ATPase; E1-E2 ATPase

pfam13246
Location:486 → 581

Cation_ATPase; Cation transport ATPase (P-type)

pfam16209
Location:38 → 100

PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal

pfam16212
Location:827 → 1079

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

cl21460
Location:796 → 825

HAD_like; Haloacid Dehalogenase-like Hydrolases
NM_009727.3 → NP_033857.1 phospholipid-transporting ATPase IA isoform b

See identical proteins and their annotated locations for NP_033857.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate exon and lacks two other alternate exons in the 5' coding region, compared to variant 1. It encodes isoform b, which is shorter than isoform a.

Source sequence(s)

AC123662, AK039919, AK045367, AK141559, AK151709, BC094235

Consensus CDS

CCDS39105.1

UniProtKB/TrEMBL

A1L332

Related

ENSMUSP00000118379.3, ENSMUST00000135930.8

Conserved Domains (6) summary

TIGR01652
Location:49 → 1071

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

pfam00122
Location:106 → 191

E1-E2_ATPase; E1-E2 ATPase

pfam13246
Location:471 → 566

Cation_ATPase; Cation transport ATPase (P-type)

pfam16209
Location:38 → 100

PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal

pfam16212
Location:812 → 1064

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

cl21460
Location:781 → 810

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_000071.7 Reference GRCm39 C57BL/6J

Range

67775482..68004822 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006503703.5 → XP_006503766.1 phospholipid-transporting ATPase IA isoform X5

See identical proteins and their annotated locations for XP_006503766.1

UniProtKB/TrEMBL

A1L332

Conserved Domains (1) summary

TIGR01652
Location:11 → 922

ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
XM_036164750.1 → XP_036020643.1 phospholipid-transporting ATPase IA isoform X4

UniProtKB/TrEMBL

A1L332

Conserved Domains (1) summary

TIGR01652
Location:49 → 1071

ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
XM_011240698.4 → XP_011239000.1 phospholipid-transporting ATPase IA isoform X3

UniProtKB/TrEMBL

A1L332

Conserved Domains (1) summary

TIGR01652
Location:49 → 1096

ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
XM_036164751.1 → XP_036020644.1 phospholipid-transporting ATPase IA isoform X6

UniProtKB/TrEMBL

A1L332

Conserved Domains (1) summary

TIGR01652
Location:1 → 907

ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
XM_017320623.3 → XP_017176112.1 phospholipid-transporting ATPase IA isoform X1

UniProtKB/TrEMBL

A1L332

Conserved Domains (1) summary

TIGR01652
Location:62 → 1099

ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
XM_017320624.3 → XP_017176113.1 phospholipid-transporting ATPase IA isoform X2

UniProtKB/TrEMBL

A1L332

Conserved Domains (1) summary

TIGR01652
Location:62 → 1084

ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
XM_036164752.1 → XP_036020645.1 phospholipid-transporting ATPase IA isoform X7

UniProtKB/TrEMBL

Q52KQ7

Conserved Domains (1) summary

TIGR01652
Location:1 → 707

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