Atp11a ATPase, class VI, type 11A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp11aprovided by MGI
Official Full Name: ATPase, class VI, type 11Aprovided by MGI
Primary source: MGI:MGI:1354735
See related: Ensembl:ENSMUSG00000031441 AllianceGenome:MGI:1354735
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: Ih; Atpc1h; 4930558F19Rik
Summary: Predicted to enable phosphatidylethanolamine flippase activity and phosphatidylserine flippase activity. Involved in positive regulation of myotube differentiation. Acts upstream of or within in utero embryonic development. Predicted to be located in Golgi apparatus. Predicted to be part of phospholipid-translocating ATPase complex. Predicted to be active in endoplasmic reticulum; plasma membrane; and recycling endosome. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; lung; and sensory organ. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 84 and hypomyelinating leukodystrophy 24. Orthologous to human ATP11A (ATPase phospholipid transporting 11A). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in lung adult (RPKM 80.2), kidney adult (RPKM 45.0) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 A1.1; 8 5.73 cM

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (12807016..12918728)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (12757016..12868728)

Chromosome 8 - NC_000074.7 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?

A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.
Title: A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.
Two types of type IV P-type ATPases independently re-establish the asymmetrical distribution of phosphatidylserine in plasma membranes.
Title: Two types of type IV P-type ATPases independently re-establish the asymmetrical distribution of phosphatidylserine in plasma membranes.
Inefficient development of syncytiotrophoblasts in the Atp11a-deficient mouse placenta.
Title: Inefficient development of syncytiotrophoblasts in the Atp11a-deficient mouse placenta.
A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes.
Title: A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes.
ATP11A and ATP11C in precursor B cells are essential for rapidly internalizing PtdSer from the cell surface to prevent the cells' engulfment by macrophages.
Title: Phospholipid flippases enable precursor B cells to flee engulfment by macrophages.
results show that elevated levels of ATP11a can protect malignant lymphoblastic leukemia cells against several novel small molecule signal transduction inhibitors
Title: Resistance to farnesyltransferase inhibitors in Bcr/Abl-positive lymphoblastic leukemia by increased expression of a novel ABC transporter homolog ATP11a.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (4) 1 citation

General gene information

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Markers

BE136256 (e-PCR)
- UniSTS:208242

Atp11a (e-PCR), detects polymorphism
- UniSTS:527257

AW146001 (e-PCR)
- UniSTS:179706

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 phosphatidylethanolamine flippase activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylethanolamine flippase activity	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylserine flippase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylserine flippase activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylserine floppase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in aminophospholipid translocation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipid translocation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of myotube differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of myotube differentiation	ISO Inferred from Sequence Orthology more info
involved_in regulation of membrane lipid distribution	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 early endosome	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	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
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 plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in recycling endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in recycling endosome	IEA Inferred from Electronic Annotation more info
located_in recycling endosome	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: phospholipid-transporting ATPase IH

Names: 9130422H11Rik; ATPase 11A, class VI; ATPase 11A, p type; ATPase, class 1, member h; P4-ATPase flippase complex alpha subunit ATP11A; probable phospholipid-transporting ATPase IH

NP_001280596.1

EC 7.6.2.1

NP_001280597.1

EC 7.6.2.1

NP_056619.1

EC 7.6.2.1

XP_006508897.1

EC 7.6.2.1

XP_006508900.1

EC 7.6.2.1

XP_006508902.1

EC 7.6.2.1

XP_006508903.1

EC 7.6.2.1

XP_011240369.1

EC 7.6.2.1

XP_017168382.1

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_001293667.1 → NP_001280596.1 phospholipid-transporting ATPase IH isoform 2

See identical proteins and their annotated locations for NP_001280596.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate exon in the 3' end compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC134581, AK147497

Consensus CDS

CCDS80858.1

UniProtKB/TrEMBL

E9Q3G7, Q69ZT0

Related

ENSMUSP00000033818.4, ENSMUST00000033818.10

Conserved Domains (1) summary

cd02073
Location:47 → 986

P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
NM_001293668.1 → NP_001280597.1 phospholipid-transporting ATPase IH isoform 3

See identical proteins and their annotated locations for NP_001280597.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate exon in the 3' end compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC134581, AK147497, BC145399

UniProtKB/TrEMBL

Q69ZT0

Conserved Domains (1) summary

cd02073
Location:47 → 986

P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
NM_015804.3 → NP_056619.1 phospholipid-transporting ATPase IH isoform 1

See identical proteins and their annotated locations for NP_056619.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC134581, AK147497, CF167530

Consensus CDS

CCDS40223.1

UniProtKB/Swiss-Prot

B2RS49, P98197

UniProtKB/TrEMBL

Q69ZT0

Related

ENSMUSP00000088779.6, ENSMUST00000091237.12

Conserved Domains (1) summary

cd02073
Location:47 → 986

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

RNA

NR_121603.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains an alternate exon in the 3' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC134581, AK147497, BC145400

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_000074.7 Reference GRCm39 C57BL/6J

Range

12807016..12918728

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006508839.5 → XP_006508902.1 phospholipid-transporting ATPase IH isoform X3

See identical proteins and their annotated locations for XP_006508902.1

UniProtKB/TrEMBL

Q69ZT0

Conserved Domains (1) summary

cd02073
Location:47 → 986

P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
XM_006508837.3 → XP_006508900.1 phospholipid-transporting ATPase IH isoform X2

UniProtKB/TrEMBL

Q69ZT0

Conserved Domains (1) summary

cd02073
Location:47 → 986

P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
XM_006508834.3 → XP_006508897.1 phospholipid-transporting ATPase IH isoform X1

See identical proteins and their annotated locations for XP_006508897.1

UniProtKB/TrEMBL

E9Q3G7, Q69ZT0

Conserved Domains (1) summary

cd02073
Location:47 → 986

P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
XM_011242067.2 → XP_011240369.1 phospholipid-transporting ATPase IH isoform X1

See identical proteins and their annotated locations for XP_011240369.1

UniProtKB/TrEMBL

E9Q3G7, Q69ZT0

Conserved Domains (1) summary

cd02073
Location:47 → 986

P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
XM_017312893.1 → XP_017168382.1 phospholipid-transporting ATPase IH isoform X3

UniProtKB/TrEMBL

Q69ZT0

Conserved Domains (1) summary

cd02073
Location:47 → 986

P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
XM_006508840.3 → XP_006508903.1 phospholipid-transporting ATPase IH isoform X4

UniProtKB/TrEMBL

Q69ZT0

Conserved Domains (1) summary

cd02073
Location:47 → 986

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