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

    Gene ID: 50770, updated on 2-Nov-2024

    Summary

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    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 and hypomyelinating leukodystrophy 24. Orthologous to human ATP11A (ATPase phospholipid transporting 11A). [provided by Alliance of Genome Resources, Nov 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

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    See Atp11a in Genome Data Viewer
    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_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_20748 Neighboring gene predicted gene, 39133 Neighboring gene predicted gene, 33587 Neighboring gene predicted gene 15350 Neighboring gene predicted gene 15353 Neighboring gene mcf.2 transforming sequence-like Neighboring gene predicted gene 15351

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data 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?
    1. A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.
      Title: A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.
    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.
    3. Inefficient development of syncytiotrophoblasts in the Atp11a-deficient mouse placenta.
      Title: Inefficient development of syncytiotrophoblasts in the Atp11a-deficient mouse placenta.
    4. 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.
    5. 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.
    6. 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.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (4)  1 citation

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    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
    NP_001280597.1
    NP_056619.1
    XP_006508897.1
    XP_006508900.1
    XP_006508902.1
    XP_006508903.1
    XP_011240369.1
    XP_017168382.1

    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)

    1. 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

    2. 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

    3. 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

    1. 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

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      12807016..12918728
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    3. 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

    4. 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

    5. 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

    6. 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

    RNA

    1. XR_004934861.1 RNA Sequence

    2. XR_004934860.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P98197.1 GenPept UniProtKB/Swiss-Prot:P98197

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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