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ATP10A ATPase phospholipid transporting 10A (putative) [ Homo sapiens (human) ]

Gene ID: 57194, updated on 5-Mar-2024

Summary

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Official Symbol
ATP10Aprovided by HGNC
Official Full Name
ATPase phospholipid transporting 10A (putative)provided by HGNC
Primary source
HGNC:HGNC:13542
See related
Ensembl:ENSG00000206190 MIM:605855; AllianceGenome:HGNC:13542
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ATPVA; ATPVC; ATP10C
Summary
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in adrenal (RPKM 2.8), lung (RPKM 2.6) and 23 other tissues See more
Orthologs
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Genomic context

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See ATP10A in Genome Data Viewer
Location:
15q12
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (25672237..25865088, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (23410024..23605753, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (25923859..26108474, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2250 Neighboring gene uncharacterized LOC107984789 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:25808594-25809158 Neighboring gene uncharacterized LOC124903448 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:25888031-25888974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:25895885-25896385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:25917854-25918562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:25918563-25919270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:25940327-25940827 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:25941814-25942360 Neighboring gene RNA, 5S ribosomal pseudogene 390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:26014919-26015420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9163 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:26047665-26048164 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:26047324-26047457 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:26056572-26057072 Neighboring gene uncharacterized LOC107984770 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:26082467-26082968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:26082969-26083468 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:26090222-26091063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6265 Neighboring gene microRNA 4715 Neighboring gene ATP10A divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:26143028-26143528 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:26143529-26144029 Neighboring gene long intergenic non-protein coding RNA 2346 Neighboring gene MRPS18C pseudogene 5

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. Phospholipid-flipping activity of P4-ATPase drives membrane curvature. Takada N, et al. EMBO J, 2018 May 2. PMID 29599178, Free PMC Article
  2. Gender influences monoallelic expression of ATP10A in human brain. Hogart A, et al. Hum Genet, 2008 Oct. PMID 18726118, Free PMC Article
  3. A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome. Meguro M, et al. Nat Genet, 2001 May. PMID 11326269
  4. A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect. Gillessen-Kaesbach G, et al. Eur J Hum Genet, 1999 Sep. PMID 10482951
  5. A dual epigenomic approach for the search of obesity biomarkers: DNA methylation in relation to diet-induced weight loss. Milagro FI, et al. FASEB J, 2011 Apr. PMID 21209057

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. results suggest that enhanced PC flipping activity due to exogenous ATP10A expression alters the lipid composition at the plasma membrane
    Title: Phospholipid Flippase ATP10A Translocates Phosphatidylcholine and Is Involved in Plasma Membrane Dynamics.
  2. has been proven that hypocaloric diets induce changes in the DNA methylation pattern in PBMCs (CpG18 of ATP10A and CpG 21 of WT1) and that some of these markers could be used as early indicators of response to metabolic effects of weight-loss programs
    Title: A dual epigenomic approach for the search of obesity biomarkers: DNA methylation in relation to diet-induced weight loss.
  3. ATP10A gene is imprinted, with preferential expression from the maternal allele in human brain.
    Title: The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  5. In the analysis of a four-marker haplotype located in ATP10C, a statistically significant difference was observed in the frequency of one haplotype between male autism patients and controls
    Title: Association study of the 15q11-q13 maternal expression domain in Japanese autistic patients.
  6. monoallelic expression of human ATP10A is variable in the population and is influenced by both gender and common genetic variation
    Title: Gender influences monoallelic expression of ATP10A in human brain.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A.
  8. report the generation of the complete genomic structure
    Title: An aminophospholipid translocase associated with body fat and type 2 diabetes phenotypes.
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

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2012-04-24)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2012-04-24)

ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
EBI GWAS Catalog
Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0566

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 ATPase-coupled intramembrane lipid transporter activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables ATPase-coupled intramembrane lipid transporter activity TAS
Traceable Author Statement
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 phosphatidylcholine floppase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in monoatomic ion transmembrane transport TAS
Traceable Author Statement
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 positive regulation of membrane tubulation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of cell shape 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 membrane NAS
Non-traceable Author Statement
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
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
phospholipid-transporting ATPase VA
Names
ATPase type IV, phospholipid transporting (P-type)
ATPase, Class V, type 10C
ATPase, class V, type 10A
P4-ATPase flippase complex alpha subunit ATP10A
aminophospholipid translocase VA
probable phospholipid-transporting ATPase VA
NP_077816.1
XP_005268318.1
XP_011520128.1
XP_011520130.1
XP_011520131.1
XP_016877926.1
XP_047288846.1
XP_047288847.1
XP_047288848.1
XP_054234475.1
XP_054234476.1
XP_054234477.1
XP_054234478.1
XP_054234479.1
XP_054234480.1
XP_054234481.1

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.

Genomic

  1. NG_009282.1 RefSeqGene

    Range
    4876..189491
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_024490.4 → NP_077816.1  phospholipid-transporting ATPase VA

    See identical proteins and their annotated locations for NP_077816.1

    Status: REVIEWED

    Source sequence(s)
    AC016266, AC023449, AC109512
    Consensus CDS
    CCDS32178.1
    UniProtKB/Swiss-Prot
    O60312, Q4G0S9, Q969I4
    Related
    ENSP00000450480.2, ENST00000555815.7
    Conserved Domains (5) summary
    TIGR01652
    Location:61 → 1309
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam13246
    Location:697 → 782
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:49 → 108
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:1057 → 1302
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:1026 → 1057
    HAD_like; Haloacid Dehalogenase-like Hydrolases

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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    25672237..25865088 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521828.3 → XP_011520130.1  phospholipid-transporting ATPase VA isoform X2

    Conserved Domains (5) summary
    TIGR01652
    Location:61 → 1309
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam13246
    Location:697 → 782
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:49 → 108
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:1057 → 1302
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:1026 → 1057
    HAD_like; Haloacid Dehalogenase-like Hydrolases

  2. XM_005268261.5 → XP_005268318.1  phospholipid-transporting ATPase VA isoform X1

    See identical proteins and their annotated locations for XP_005268318.1

    UniProtKB/Swiss-Prot
    O60312, Q4G0S9, Q969I4
    Conserved Domains (5) summary
    TIGR01652
    Location:61 → 1309
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam13246
    Location:697 → 782
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:49 → 108
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:1057 → 1302
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:1026 → 1057
    HAD_like; Haloacid Dehalogenase-like Hydrolases

  3. XM_011521826.3 → XP_011520128.1  phospholipid-transporting ATPase VA isoform X1

    See identical proteins and their annotated locations for XP_011520128.1

    UniProtKB/Swiss-Prot
    O60312, Q4G0S9, Q969I4
    Related
    ENSP00000349325.6, ENST00000356865.11
    Conserved Domains (5) summary
    TIGR01652
    Location:61 → 1309
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam13246
    Location:697 → 782
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:49 → 108
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:1057 → 1302
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:1026 → 1057
    HAD_like; Haloacid Dehalogenase-like Hydrolases

  4. XM_047432891.1 → XP_047288847.1  phospholipid-transporting ATPase VA isoform X3

  5. XM_047432890.1 → XP_047288846.1  phospholipid-transporting ATPase VA isoform X3

  6. XM_017022437.2 → XP_016877926.1  phospholipid-transporting ATPase VA isoform X3

    Conserved Domains (5) summary
    COG0474
    Location:56 → 995
    MgtA; Magnesium-transporting ATPase (P-type) [Inorganic ion transport and metabolism]
    TIGR01484
    Location:562 → 743
    HAD-SF-IIB; HAD-superfamily hydrolase, subfamily IIB
    pfam13246
    Location:392 → 477
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16212
    Location:752 → 997
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:721 → 752
    HAD_like; Haloacid Dehalogenase-like Hydrolases

  7. XM_047432892.1 → XP_047288848.1  phospholipid-transporting ATPase VA isoform X3

  8. XM_011521829.3 → XP_011520131.1  phospholipid-transporting ATPase VA isoform X3

    Conserved Domains (5) summary
    COG0474
    Location:56 → 995
    MgtA; Magnesium-transporting ATPase (P-type) [Inorganic ion transport and metabolism]
    TIGR01484
    Location:562 → 743
    HAD-SF-IIB; HAD-superfamily hydrolase, subfamily IIB
    pfam13246
    Location:392 → 477
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16212
    Location:752 → 997
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:721 → 752
    HAD_like; Haloacid Dehalogenase-like Hydrolases

RNA

  1. XR_001751368.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    23410024..23605753 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054378502.1 → XP_054234477.1  phospholipid-transporting ATPase VA isoform X2

  2. XM_054378501.1 → XP_054234476.1  phospholipid-transporting ATPase VA isoform X1

    UniProtKB/Swiss-Prot
    O60312, Q4G0S9, Q969I4

  3. XM_054378500.1 → XP_054234475.1  phospholipid-transporting ATPase VA isoform X1

    UniProtKB/Swiss-Prot
    O60312, Q4G0S9, Q969I4

  4. XM_054378504.1 → XP_054234479.1  phospholipid-transporting ATPase VA isoform X3

  5. XM_054378503.1 → XP_054234478.1  phospholipid-transporting ATPase VA isoform X3

  6. XM_054378506.1 → XP_054234481.1  phospholipid-transporting ATPase VA isoform X3

  7. XM_054378505.1 → XP_054234480.1  phospholipid-transporting ATPase VA isoform X3

RNA

  1. XR_008488999.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60312.2 GenPept UniProtKB/Swiss-Prot:O60312

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