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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
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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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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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