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    ATP10B ATPase phospholipid transporting 10B (putative) [ Homo sapiens (human) ]

    Gene ID: 23120, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ATP10Bprovided by HGNC
    Official Full Name
    ATPase phospholipid transporting 10B (putative)provided by HGNC
    Primary source
    HGNC:HGNC:13543
    See related
    Ensembl:ENSG00000118322 MIM:619791; AllianceGenome:HGNC:13543
    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
    ATPVB
    Summary
    Enables glycosylceramide flippase activity and phosphatidylcholine flippase activity. Involved in lysosomal membrane organization. Located in endoplasmic reticulum and lysosomal membrane. Part of late endosome membrane and phospholipid-translocating ATPase complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in colon (RPKM 23.9), duodenum (RPKM 11.1) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ATP10B in Genome Data Viewer
    Location:
    5q34
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (160563120..160929360, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (161091715..161458290, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (159990127..160279218, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:159904496-159905044 Neighboring gene MIR3142 host gene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:159931865-159932702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23570 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23571 Neighboring gene microRNA 3142 Neighboring gene microRNA 146a Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:160019382-160019882 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:160033047-160034246 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:160072012-160072167 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:160300229-160300807 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:160300808-160301385 Neighboring gene NANOG hESC enhancer GRCh37_chr5:160355657-160356158 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:160365148-160366347 Neighboring gene long intergenic non-protein coding RNA 2159 Neighboring gene uncharacterized LOC105377693

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The lipid flippase ATP10B enables cellular lipid uptake under stress conditions. Wouters R, et al. Biochim Biophys Acta Mol Cell Res, 2024 Feb. PMID 38086447
    2. Role of ATP10B in Parkinson disease in a cohort from southern Spain. Díaz-Belloso R, et al. Parkinsonism Relat Disord, 2024 Jul. PMID 38754220
    3. Genetic analysis of ATP10B for Parkinson's disease in Japan. Ishiguro M, et al. Parkinsonism Relat Disord, 2021 Jul. PMID 34091411
    4. Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export. Martin S, et al. Acta Neuropathol, 2020 Jun. PMID 32172343, Free PMC Article
    5. Human Type IV P-type ATPases That Work as Plasma Membrane Phospholipid Flippases and Their Regulation by Caspase and Calcium. Segawa K, et al. J Biol Chem, 2016 Jan 8. PMID 26567335, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Role of ATP10B in Parkinson disease in a cohort from southern Spain.
      Title: Role of ATP10B in Parkinson disease in a cohort from southern Spain.
    2. The lipid flippase ATP10B enables cellular lipid uptake under stress conditions.
      Title: The lipid flippase ATP10B enables cellular lipid uptake under stress conditions.
    3. Genetic analysis of ATP10B for Parkinson's disease in Japan.
      Title: Genetic analysis of ATP10B for Parkinson's disease in Japan.
    4. Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.
      Title: Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21477, KIAA0715

    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 glycosylceramide flippase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylcholine flippase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in lysosomal membrane organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in late endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of phospholipid-translocating ATPase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of phospholipid-translocating ATPase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    phospholipid-transporting ATPase VB
    Names
    ATPase, class V, type 10B
    P4-ATPase flippase complex alpha subunit ATP10B
    probable phospholipid-transporting ATPase VB
    NP_001353581.1
    NP_001353582.1
    NP_001353583.1
    NP_001353584.1
    NP_001353585.1
    NP_001353586.1
    NP_001353587.1
    NP_001397751.1
    NP_079429.2
    XP_011532770.1
    XP_011532771.1
    XP_016864741.1
    XP_047272950.1
    XP_047272951.1
    XP_047272952.1
    XP_054208128.1
    XP_054208129.1
    XP_054208130.1
    XP_054208131.1
    XP_054208132.1

    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_001366652.1 → NP_001353581.1  phospholipid-transporting ATPase VB isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC008388, AC008456, AC011363, AC091928
      Consensus CDS
      CCDS43394.1
      UniProtKB/Swiss-Prot
      O94823, Q9H725
      Conserved Domains (1) summary
      cd02073
      Location:68 → 1213
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C

    2. NM_001366653.2 → NP_001353582.1  phospholipid-transporting ATPase VB isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC008456, AC011363, AC091928
      UniProtKB/TrEMBL
      B4DHG1
      Related
      ENST00000517802.5
      Conserved Domains (1) summary
      cl21460
      Location:68 → 455
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    3. NM_001366654.2 → NP_001353583.1  phospholipid-transporting ATPase VB isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC008456, AC011363, AC091928
      UniProtKB/TrEMBL
      B4DHG1

    4. NM_001366655.1 → NP_001353584.1  phospholipid-transporting ATPase VB isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC008388, AC008456, AC011363, AC091928
      Consensus CDS
      CCDS43394.1
      UniProtKB/Swiss-Prot
      O94823, Q9H725
      Conserved Domains (1) summary
      cd02073
      Location:68 → 1213
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C

    5. NM_001366656.2 → NP_001353585.1  phospholipid-transporting ATPase VB isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC008456, AC011363, AC091928
      UniProtKB/TrEMBL
      B4DHG1
      Conserved Domains (1) summary
      cl21460
      Location:68 → 455
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    6. NM_001366657.1 → NP_001353586.1  phospholipid-transporting ATPase VB isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC008388, AC008456, AC011363, AC091928
      Conserved Domains (1) summary
      cd02073
      Location:68 → 1201
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C

    7. NM_001366658.2 → NP_001353587.1  phospholipid-transporting ATPase VB isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC008456, AC011363
      Related
      ENST00000326831.7
      Conserved Domains (1) summary
      cl21460
      Location:40 → 427
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    8. NM_001410822.1 → NP_001397751.1  phospholipid-transporting ATPase VB isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC008388, AC008456, AC011363
      Consensus CDS
      CCDS93811.1
      UniProtKB/TrEMBL
      A0A2R8YDI5
      Related
      ENSP00000493802.1, ENST00000642502.1

    9. NM_025153.3 → NP_079429.2  phospholipid-transporting ATPase VB isoform 1

      See identical proteins and their annotated locations for NP_079429.2

      Status: VALIDATED

      Source sequence(s)
      AB018258, AC011363, AK025294, AK090832
      Consensus CDS
      CCDS43394.1
      UniProtKB/Swiss-Prot
      O94823, Q9H725
      Related
      ENSP00000313600.5, ENST00000327245.10
      Conserved Domains (1) summary
      cd02073
      Location:68 → 1213
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      160563120..160929360 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009252.2 → XP_016864741.1  phospholipid-transporting ATPase VB isoform X2

      Conserved Domains (1) summary
      cd02073
      Location:68 → 1201
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C

    2. XM_047416995.1 → XP_047272951.1  phospholipid-transporting ATPase VB isoform X3

    3. XM_011534468.3 → XP_011532770.1  phospholipid-transporting ATPase VB isoform X1

      See identical proteins and their annotated locations for XP_011532770.1

      UniProtKB/Swiss-Prot
      O94823, Q9H725
      Conserved Domains (1) summary
      cd02073
      Location:68 → 1213
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C

    4. XM_047416994.1 → XP_047272950.1  phospholipid-transporting ATPase VB isoform X1

      UniProtKB/Swiss-Prot
      O94823, Q9H725

    5. XM_011534469.2 → XP_011532771.1  phospholipid-transporting ATPase VB isoform X1

      See identical proteins and their annotated locations for XP_011532771.1

      UniProtKB/Swiss-Prot
      O94823, Q9H725
      Conserved Domains (1) summary
      cd02073
      Location:68 → 1213
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C

    6. XM_047416996.1 → XP_047272952.1  phospholipid-transporting ATPase VB isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      161091715..161458290 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352156.1 → XP_054208131.1  phospholipid-transporting ATPase VB isoform X3

    2. XM_054352155.1 → XP_054208130.1  phospholipid-transporting ATPase VB isoform X2

    3. XM_054352153.1 → XP_054208128.1  phospholipid-transporting ATPase VB isoform X1

    4. XM_054352154.1 → XP_054208129.1  phospholipid-transporting ATPase VB isoform X1

    5. XM_054352157.1 → XP_054208132.1  phospholipid-transporting ATPase VB isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O94823.2 GenPept UniProtKB/Swiss-Prot:O94823

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