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    ATP9A ATPase phospholipid transporting 9A (putative) [ Homo sapiens (human) ]

    Gene ID: 10079, updated on 5-Mar-2024

    Summary

    Official Symbol
    ATP9Aprovided by HGNC
    Official Full Name
    ATPase phospholipid transporting 9A (putative)provided by HGNC
    Primary source
    HGNC:HGNC:13540
    See related
    Ensembl:ENSG00000054793 MIM:609126; AllianceGenome:HGNC:13540
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATPIIA; NEDGBA
    Summary
    Enables protease binding activity. Involved in negative regulation of exosomal secretion; regulation of endocytic recycling; and regulation of retrograde transport, endosome to Golgi. Located in several cellular components, including endosome membrane; perinuclear region of cytoplasm; and trans-Golgi network membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in brain (RPKM 35.7), thyroid (RPKM 11.3) and 18 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ATP9A in Genome Data Viewer
    Location:
    20q13.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (51596514..51768390, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (53367254..53539838, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (50213053..50384929, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372663 Neighboring gene Sharpr-MPRA regulatory region 14118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18110 Neighboring gene Sharpr-MPRA regulatory region 9422 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:50039818-50040650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:50041537-50042129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18111 Neighboring gene nuclear factor of activated T cells 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:50051304-50052503 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:50063011-50064210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:50067417-50067918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:50072771-50073376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:50079139-50080099 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:50103914-50105113 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:50105077-50105578 Neighboring gene microRNA 3194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18114 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:50149441-50150640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:50157559-50158228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:50186888-50187388 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:50224727-50225926 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:50226387-50226540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:50240809-50241341 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:50247413-50248612 Neighboring gene Sharpr-MPRA regulatory region 9373 Neighboring gene Sharpr-MPRA regulatory region 11561 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:50315099-50315599 Neighboring gene Sharpr-MPRA regulatory region 2244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:50318515-50319015 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:50321824-50322382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:50323455-50323954 Neighboring gene NANOG hESC enhancer GRCh37_chr20:50327032-50327577 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:50329473-50329983 Neighboring gene Sharpr-MPRA regulatory region 2265 Neighboring gene Sharpr-MPRA regulatory region 2507 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:50366388-50366998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:50378781-50379465 Neighboring gene ribosomal protein L29 pseudogene 35 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:50405009-50405510 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:50405511-50406010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:50406470-50407036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:50407037-50407602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:50411851-50412350 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:50415843-50416766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18116 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:50417479-50418121 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:50418765-50419406 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:50427387-50428259 Neighboring gene spalt like transcription factor 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:50463018-50463518 Neighboring gene long intergenic non-protein coding RNA 1429 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:50478941-50479507

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Neurodevelopmental disorder with poor growth and behavioral abnormalities
    MedGen: C5830273 OMIM: 620242 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0611

    Gene Ontology Provided by GOA

    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 protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of exosomal secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuron projection morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in phospholipid translocation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phospholipid translocation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of endocytic recycling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of retrograde transport, endosome to Golgi IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in recycling endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in recycling endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in trans-Golgi network membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    probable phospholipid-transporting ATPase IIA
    Names
    ATPase type IV, phospholipid-transporting (P-type),(putative)
    ATPase, class II, type 9A
    phospholipid-transporting ATPase IIA
    NP_006036.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_006045.3NP_006036.1  probable phospholipid-transporting ATPase IIA

      See identical proteins and their annotated locations for NP_006036.1

      Status: VALIDATED

      Source sequence(s)
      AK299064, AL035684, BC110592, BF089115, HY147052
      Consensus CDS
      CCDS33489.1
      UniProtKB/Swiss-Prot
      E1P5Y3, E1P5Y4, O75110, Q5TFW5, Q5TFW6, Q5TFW9, Q6ZMF3, Q9NQK6, Q9NQK7
      UniProtKB/TrEMBL
      B4DR18
      Related
      ENSP00000342481.5, ENST00000338821.6
      Conserved Domains (2) summary
      cd07541
      Location:55967
      P-type_ATPase_APLT_Neo1-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Neo1p and human putative APLT, ATP9B
      pfam13246
      Location:464571
      Cation_ATPase; Cation transport ATPase (P-type)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      51596514..51768390 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      53367254..53539838 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)