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

Gene ID: 57194, updated on 13-Mar-2020

Summary

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
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

Genomic context

See ATP10A in Genome Data Viewer
Location:
15q12
Exon count:
28
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (25672241..25865144, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (25923859..26110304, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA host gene 14 Neighboring gene ubiquitin protein ligase E3A Neighboring gene long intergenic non-protein coding RNA 2250 Neighboring gene uncharacterized LOC107984789 Neighboring gene RNA, 5S ribosomal pseudogene 390 Neighboring gene uncharacterized LOC107984770 Neighboring gene uncharacterized LOC105370738 Neighboring gene microRNA 4715 Neighboring gene long intergenic non-protein coding RNA 2346 Neighboring gene mitochondrial ribosomal protein S18C pseudogene 5

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

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0566

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ion transmembrane transport TAS
Traceable Author Statement
more info
 
phospholipid translocation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid translocation NAS
Non-traceable Author Statement
more info
PubMed 
regulation of cell shape NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
probable 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
phospholipid-transporting ATPase VA
NP_077816.1
XP_005268318.1
XP_011520128.1
XP_011520130.1
XP_011520131.1
XP_011520132.2
XP_016877925.1
XP_016877926.1

NCBI Reference Sequences (RefSeq)

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
    5001..189491
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_024490.3NP_077816.1  probable phospholipid-transporting ATPase VA

    See identical proteins and their annotated locations for NP_077816.1

    Status: REVIEWED

    Source sequence(s)
    AB051358, AC023449
    Consensus CDS
    CCDS32178.1
    UniProtKB/Swiss-Prot
    O60312
    Related
    ENSP00000450480.2, ENST00000555815.6
    Conserved Domains (5) summary
    TIGR01652
    Location:611309
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam13246
    Location:697782
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:49108
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:10571302
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:10261057
    HAD_like; Haloacid Dehalogenase-like Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    25672241..25865144 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521828.2XP_011520130.1  probable phospholipid-transporting ATPase VA isoform X2

    Conserved Domains (5) summary
    TIGR01652
    Location:611309
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam13246
    Location:697782
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:49108
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:10571302
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:10261057
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  2. XM_005268261.4XP_005268318.1  probable phospholipid-transporting ATPase VA isoform X1

    See identical proteins and their annotated locations for XP_005268318.1

    UniProtKB/Swiss-Prot
    O60312
    Conserved Domains (5) summary
    TIGR01652
    Location:611309
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam13246
    Location:697782
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:49108
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:10571302
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:10261057
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  3. XM_011521826.2XP_011520128.1  probable phospholipid-transporting ATPase VA isoform X1

    See identical proteins and their annotated locations for XP_011520128.1

    UniProtKB/Swiss-Prot
    O60312
    Related
    ENSP00000349325.6, ENST00000356865.11
    Conserved Domains (5) summary
    TIGR01652
    Location:611309
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam13246
    Location:697782
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:49108
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:10571302
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:10261057
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  4. XM_017022437.1XP_016877926.1  probable phospholipid-transporting ATPase VA isoform X4

    Conserved Domains (5) summary
    COG0474
    Location:56995
    MgtA; Magnesium-transporting ATPase (P-type) [Inorganic ion transport and metabolism]
    TIGR01484
    Location:562743
    HAD-SF-IIB; HAD-superfamily hydrolase, subfamily IIB
    pfam13246
    Location:392477
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16212
    Location:752997
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:721752
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  5. XM_017022436.1XP_016877925.1  probable phospholipid-transporting ATPase VA isoform X3

  6. XM_011521829.2XP_011520131.1  probable phospholipid-transporting ATPase VA isoform X4

    Conserved Domains (5) summary
    COG0474
    Location:56995
    MgtA; Magnesium-transporting ATPase (P-type) [Inorganic ion transport and metabolism]
    TIGR01484
    Location:562743
    HAD-SF-IIB; HAD-superfamily hydrolase, subfamily IIB
    pfam13246
    Location:392477
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16212
    Location:752997
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:721752
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  7. XM_011521830.2XP_011520132.2  probable phospholipid-transporting ATPase VA isoform X5

RNA

  1. XR_001751366.1 RNA Sequence

  2. XR_001751367.1 RNA Sequence

  3. XR_001751368.1 RNA Sequence

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