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Atp9a ATPase, class II, type 9A [ Mus musculus (house mouse) ]

Gene ID: 11981, updated on 27-Nov-2024

Summary

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Official Symbol
Atp9aprovided by MGI
Official Full Name
ATPase, class II, type 9Aprovided by MGI
Primary source
MGI:MGI:1330826
See related
Ensembl:ENSMUSG00000027546 AllianceGenome:MGI:1330826
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
IIa
Summary
Predicted to enable ATPase-coupled intramembrane lipid transporter activity and protease binding activity. Involved in neuron projection morphogenesis. Located in early endosome and late endosome. Is expressed in several structures, including alimentary system; central nervous system; hemolymphoid system gland; peripheral nervous system; and retina. Used to study specific developmental disorder. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with poor growth and behavioral abnormalities. Orthologous to human ATP9A (ATPase phospholipid transporting 9A (putative)). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in colon adult (RPKM 66.0), CNS E18 (RPKM 56.7) and 25 other tissues See more
Orthologs
human all
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Genomic context

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See Atp9a in Genome Data Viewer
Location:
2 H3; 2 88.99 cM
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (168476358..168584290, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (168634438..168742370, complement)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 33413 Neighboring gene nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2 Neighboring gene STARR-seq mESC enhancer starr_06462 Neighboring gene STARR-positive B cell enhancer mm9_chr2:168365341-168365641 Neighboring gene STARR-seq mESC enhancer starr_06463 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:168421294-168421477 Neighboring gene STARR-seq mESC enhancer starr_06464 Neighboring gene STARR-seq mESC enhancer starr_06465 Neighboring gene microRNA 7004 Neighboring gene VISTA enhancer mm1375 Neighboring gene STARR-seq mESC enhancer starr_06468 Neighboring gene STARR-seq mESC enhancer starr_06472 Neighboring gene spalt like transcription factor 4 Neighboring gene predicted gene 14261 Neighboring gene predicted gene, 25214

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
  • 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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Related articles in PubMed

  1. ATP9A deficiency causes ADHD and aberrant endosomal recycling via modulating RAB5 and RAB11 activity. Meng T, et al. Mol Psychiatry, 2023 Mar. PMID 36604604, Free PMC Article
  2. Genome-wide assessments reveal extremely high levels of polymorphism of two active families of mouse endogenous retroviral elements. Zhang Y, et al. PLoS Genet, 2008 Feb 29. PMID 18454193, Free PMC Article
  3. Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs. Halleck MS, et al. Genome Res, 1998 Apr. PMID 9548971
  4. The type 4 subfamily of P-type ATPases, putative aminophospholipid translocases with a role in human disease. Paulusma CC, et al. Biochim Biophys Acta, 2005 Jun 30. PMID 15919184
  5. Multipotent genetic suppression of retrotransposon-induced mutations by Nxf1 through fine-tuning of alternative splicing. Concepcion D, et al. PLoS Genet, 2009 May. PMID 19436707, Free PMC Article

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0611

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 ATPase-coupled intramembrane lipid transporter activity IEA
Inferred from Electronic Annotation
more info
  
enables magnesium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protease binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in lipid translocation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of exosomal secretion ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of exosomal secretion ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in neuron projection morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 regulation of endocytic recycling ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of endocytic recycling ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of retrograde transport, endosome to Golgi ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of retrograde transport, endosome to Golgi ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in early endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in early endosome ISO
Inferred from Sequence Orthology
more info
  
located_in early endosome membrane ISO
Inferred from Sequence Orthology
more info
  
located_in early endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in late endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in late endosome ISO
Inferred from Sequence Orthology
more info
  
located_in late endosome membrane IEA
Inferred from Electronic Annotation
more info
  
located_in perinuclear region of cytoplasm 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
  
located_in recycling endosome ISO
Inferred from Sequence Orthology
more info
  
located_in recycling endosome membrane ISO
Inferred from Sequence Orthology
more info
  
located_in recycling endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in trans-Golgi network ISO
Inferred from Sequence Orthology
more info
  
located_in trans-Golgi network membrane ISO
Inferred from Sequence Orthology
more info
  
located_in trans-Golgi network membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
probable phospholipid-transporting ATPase IIA
Names
ATPase 9A, class II
ATPase 9A, p type
ATPase, class 2
NP_001276374.1
NP_001276375.1
NP_001341906.1
NP_001341907.1
NP_056546.2
XP_006498666.1
XP_017170555.1
XP_017170556.1
XP_030102742.1

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_001289445.1 → NP_001276374.1  probable phospholipid-transporting ATPase IIA isoform 2

    See identical proteins and their annotated locations for NP_001276374.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' terminal exon and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 2, which has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK082271, AL844575, AL929248, BC094551, BE989200, BY123191
    Consensus CDS
    CCDS71202.1
    UniProtKB/TrEMBL
    Q505G9, Q8C288
    Related
    ENSMUSP00000104804.3, ENSMUST00000109175.9
    Conserved Domains (2) summary
    cd07541
    Location:39 → 951
    P-type_ATPase_APLT_Neo1-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Neo1p and human putative APLT, ATP9B
    cl26237
    Location:449 → 557
    Cation_ATPase; Cation transport ATPase (P-type)

  2. NM_001289446.1 → NP_001276375.1  probable phospholipid-transporting ATPase IIA isoform 3

    See identical proteins and their annotated locations for NP_001276375.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 3, which has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK082271, AL844575, BE989200, BY240030, BY293759
    Consensus CDS
    CCDS71203.1
    UniProtKB/TrEMBL
    Q505G9, Q8C4G3
    Related
    ENSMUSP00000104806.2, ENSMUST00000109177.8
    Conserved Domains (2) summary
    cd07541
    Location:37 → 949
    P-type_ATPase_APLT_Neo1-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Neo1p and human putative APLT, ATP9B
    cl26237
    Location:447 → 555
    Cation_ATPase; Cation transport ATPase (P-type)

  3. NM_001354977.2 → NP_001341906.1  probable phospholipid-transporting ATPase IIA isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL844575, AL929248
    UniProtKB/TrEMBL
    Q505G9
    Conserved Domains (2) summary
    cd07541
    Location:33 → 945
    P-type_ATPase_APLT_Neo1-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Neo1p and human putative APLT, ATP9B
    pfam13246
    Location:443 → 551
    Cation_ATPase; Cation transport ATPase (P-type)

  4. NM_001354978.1 → NP_001341907.1  probable phospholipid-transporting ATPase IIA isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL844575, AL929248
    UniProtKB/TrEMBL
    Q505G9
    Conserved Domains (2) summary
    cd07541
    Location:1 → 871
    P-type_ATPase_APLT_Neo1-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Neo1p and human putative APLT, ATP9B
    pfam13246
    Location:369 → 477
    Cation_ATPase; Cation transport ATPase (P-type)

  5. NM_015731.3 → NP_056546.2  probable phospholipid-transporting ATPase IIA isoform 1

    See identical proteins and their annotated locations for NP_056546.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL844575, AL929248
    Consensus CDS
    CCDS38345.1
    UniProtKB/Swiss-Prot
    O70228, Q8VDI5, Q922L9
    UniProtKB/TrEMBL
    Q505G9
    Related
    ENSMUSP00000029060.5, ENSMUST00000029060.11
    Conserved Domains (6) summary
    cd01427
    Location:652 → 802
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    TIGR01652
    Location:53 → 1045
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:109 → 337
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:499 → 573
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:40 → 104
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:811 → 1039
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal

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_000068.8 Reference GRCm39 C57BL/6J

    Range
    168476358..168584290 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017315066.1 → XP_017170555.1  probable phospholipid-transporting ATPase IIA isoform X2

    UniProtKB/TrEMBL
    Q505G9
    Conserved Domains (2) summary
    cd07541
    Location:1 → 871
    P-type_ATPase_APLT_Neo1-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Neo1p and human putative APLT, ATP9B
    pfam13246
    Location:369 → 477
    Cation_ATPase; Cation transport ATPase (P-type)

  2. XM_030246882.1 → XP_030102742.1  probable phospholipid-transporting ATPase IIA isoform X2

    UniProtKB/TrEMBL
    Q505G9
    Conserved Domains (2) summary
    cd07541
    Location:1 → 871
    P-type_ATPase_APLT_Neo1-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Neo1p and human putative APLT, ATP9B
    pfam13246
    Location:369 → 477
    Cation_ATPase; Cation transport ATPase (P-type)

  3. XM_006498603.1 → XP_006498666.1  probable phospholipid-transporting ATPase IIA isoform X1

    UniProtKB/TrEMBL
    Q505G9
    Conserved Domains (2) summary
    cd07541
    Location:34 → 946
    P-type_ATPase_APLT_Neo1-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Neo1p and human putative APLT, ATP9B
    pfam13246
    Location:444 → 552
    Cation_ATPase; Cation transport ATPase (P-type)

  4. XM_017315067.1 → XP_017170556.1  probable phospholipid-transporting ATPase IIA isoform X3

    Conserved Domains (2) summary
    pfam13246
    Location:14 → 122
    Cation_ATPase; Cation transport ATPase (P-type)
    cl21460
    Location:73 → 516
    HAD_like; Haloacid Dehalogenase-like Hydrolases
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O70228.3 GenPept UniProtKB/Swiss-Prot:O70228

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