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ATP11A ATPase phospholipid transporting 11A [ Homo sapiens (human) ]

Gene ID: 23250, updated on 3-Apr-2024

Summary

Official Symbol
ATP11Aprovided by HGNC
Official Full Name
ATPase phospholipid transporting 11Aprovided by HGNC
Primary source
HGNC:HGNC:13552
See related
Ensembl:ENSG00000068650 MIM:605868; AllianceGenome:HGNC:13552
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
ATPIH; ATPIS; AUNA2; HLD24; DFNA84
Summary
The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. [provided by RefSeq, Apr 2022]
Annotation information
Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
Expression
Broad expression in lung (RPKM 20.5), gall bladder (RPKM 8.1) and 25 other tissues See more
Orthologs
NEW
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Try the new Transcript table

Genomic context

Location:
13q34
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (112690038..112887168)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (111938073..112137143)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (113344352..113541482)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113302064-113302958 Neighboring gene Sharpr-MPRA regulatory region 9322 Neighboring gene ATP11A upstream neighbor lncRNA Neighboring gene uncharacterized LOC102725228 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113343189-113343706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5534 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5535 Neighboring gene NANOG hESC enhancer GRCh37_chr13:113346005-113346506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113356801-113357507 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113358129-113358672 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113368127-113368956 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:113373763-113374962 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:113377535-113378036 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113378763-113379342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113379343-113379922 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113383173-113383972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113385574-113386373 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113387175-113387973 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113388912-113389644 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113388178-113388911 Neighboring gene Sharpr-MPRA regulatory region 8271 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:113391352-113391852 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:113391853-113392353 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113400527-113401048 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113401693-113402192 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:113409322-113410521 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113411061-113411619 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113410501-113411060 Neighboring gene ATP11A antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113416805-113417352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113417353-113417898 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113418783-113419766 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113419767-113420748 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8033 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113424987-113425542 Neighboring gene uncharacterized LOC124903253 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113430716-113431329 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:113432945-113433094 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113434144-113435009 Neighboring gene uncharacterized LOC124903252 Neighboring gene NANOG hESC enhancer GRCh37_chr13:113444396-113445115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8035 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113460948-113461629 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113462993-113463672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113505150-113505650 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:113526644-113527843 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:113529546-113529735 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 13:113533651 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 13:113534907 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 13:113536132 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 13:113537448 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 13:113539894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113540393-113540968 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 13:113543499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113546091-113546840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113552283-113552788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113556232-113557108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113557109-113557983 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113559740-113560614 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113560615-113561488 Neighboring gene uncharacterized LOC124903214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113583655-113584497 Neighboring gene MCF.2 cell line derived transforming sequence like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5536 Neighboring gene Sharpr-MPRA regulatory region 2656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113607452-113608169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113610492-113611232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113611233-113611972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113611973-113612713 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113615435-113616158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113617605-113618326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113622683-113623202 Neighboring gene MCF2L antisense RNA 1

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
Auditory neuropathy, autosomal dominant 2
MedGen: C5830542 OMIM: 620384 GeneReviews: Not available
not available
Hearing loss, autosomal dominant 84
MedGen: C5676952 OMIM: 619810 GeneReviews: Not available
Compare labs
Leukodystrophy, hypomyelinating, 24
MedGen: C5676974 OMIM: 619851 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
EBI GWAS Catalog
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 phosphatidylethanolamine flippase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphatidylethanolamine flippase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables phosphatidylserine flippase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphatidylserine 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 aminophospholipid translocation IEA
Inferred from Electronic Annotation
more info
 
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
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 myotube differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of membrane lipid distribution IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 
located_in early endosome IEA
Inferred from Electronic Annotation
more info
 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 
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 intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in lysosomal membrane HDA PubMed 
located_in membrane HDA 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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
is_active_in recycling endosome IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in recycling endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in specific granule membrane TAS
Traceable Author Statement
more info
 
located_in tertiary granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
phospholipid-transporting ATPase IH
Names
ATPase, class VI, type 11A
P4-ATPase flippase complex alpha subunit ATP11A
phospholipid-translocating ATPase
potential phospholipid-transporting ATPase IH
probable phospholipid-transporting ATPase IH
NP_001392590.1
NP_001392591.1
NP_001392592.1
NP_056020.2
NP_115565.3
XP_005268360.1
XP_005268362.1
XP_011535782.1
XP_016875979.1
XP_016875980.1
XP_016875981.1
XP_047286174.1
XP_047286175.1
XP_054230292.1
XP_054230293.1
XP_054230294.1
XP_054230295.1
XP_054230296.1
XP_054230297.1

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_001405661.1NP_001392590.1  phospholipid-transporting ATPase IH isoform c

    Status: REVIEWED

    Source sequence(s)
    AL139384, AL356740, AL356752
  2. NM_001405662.1NP_001392591.1  phospholipid-transporting ATPase IH isoform d

    Status: REVIEWED

    Source sequence(s)
    AL139384, AL356740, AL356752
  3. NM_001405663.1NP_001392592.1  phospholipid-transporting ATPase IH isoform e

    Status: REVIEWED

    Source sequence(s)
    AL139384, AL356740, AL356752
  4. NM_015205.3NP_056020.2  phospholipid-transporting ATPase IH isoform a

    See identical proteins and their annotated locations for NP_056020.2

    Status: REVIEWED

    Source sequence(s)
    AB028944, AI703438, AL139384, AL161996, AL356740, AL356752, BC024154, BE675783
    Consensus CDS
    CCDS32011.1
    UniProtKB/Swiss-Prot
    P98196, Q5VXT2
    UniProtKB/TrEMBL
    H0Y547
    Related
    ENSP00000364796.3, ENST00000375645.8
    Conserved Domains (7) summary
    TIGR01652
    Location:451109
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:102187
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:477585
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:4295
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:8511103
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl00297
    Location:639695
    R3H; R3H domain. The name of the R3H domain comes from the characteristic spacing of the most conserved arginine and histidine residues. R3H domains are found in proteins together with ATPase domains, SF1 helicase domains, SF2 DEAH helicase domains, Cys-rich ...
    cl21460
    Location:806849
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  5. NM_032189.4NP_115565.3  phospholipid-transporting ATPase IH isoform b

    Status: REVIEWED

    Source sequence(s)
    AB028944, AI703438, AL139384, AL161996, AL356740, AL356752, BC024154, BE675783
    UniProtKB/TrEMBL
    E9PEJ6
    Related
    ENSP00000364781.2, ENST00000375630.6
    Conserved Domains (7) summary
    TIGR01652
    Location:451109
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:102187
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:477585
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:4295
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:8511103
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl00297
    Location:639695
    R3H; R3H domain. The name of the R3H domain comes from the characteristic spacing of the most conserved arginine and histidine residues. R3H domains are found in proteins together with ATPase domains, SF1 helicase domains, SF2 DEAH helicase domains, Cys-rich ...
    cl21460
    Location:806849
    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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    112690038..112887168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537480.3XP_011535782.1  phospholipid-transporting ATPase IH isoform X3

    See identical proteins and their annotated locations for XP_011535782.1

    UniProtKB/TrEMBL
    H0Y547
    Conserved Domains (7) summary
    TIGR01652
    Location:451110
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:102187
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:477585
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:4295
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:8511103
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl00297
    Location:639695
    R3H; R3H domain. The name of the R3H domain comes from the characteristic spacing of the most conserved arginine and histidine residues. R3H domains are found in proteins together with ATPase domains, SF1 helicase domains, SF2 DEAH helicase domains, Cys-rich ...
    cl21460
    Location:806849
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  2. XM_005268305.5XP_005268362.1  phospholipid-transporting ATPase IH isoform X4

    See identical proteins and their annotated locations for XP_005268362.1

    UniProtKB/Swiss-Prot
    P98196, Q5VXT2
    UniProtKB/TrEMBL
    H0Y547
    Related
    ENSP00000420387.1, ENST00000487903.5
    Conserved Domains (7) summary
    TIGR01652
    Location:451109
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:102187
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:477585
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:4295
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:8511103
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl00297
    Location:639695
    R3H; R3H domain. The name of the R3H domain comes from the characteristic spacing of the most conserved arginine and histidine residues. R3H domains are found in proteins together with ATPase domains, SF1 helicase domains, SF2 DEAH helicase domains, Cys-rich ...
    cl21460
    Location:806849
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  3. XM_005268303.5XP_005268360.1  phospholipid-transporting ATPase IH isoform X3

    See identical proteins and their annotated locations for XP_005268360.1

    UniProtKB/TrEMBL
    H0Y547
    Conserved Domains (7) summary
    TIGR01652
    Location:451110
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:102187
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:477585
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:4295
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:8511103
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl00297
    Location:639695
    R3H; R3H domain. The name of the R3H domain comes from the characteristic spacing of the most conserved arginine and histidine residues. R3H domains are found in proteins together with ATPase domains, SF1 helicase domains, SF2 DEAH helicase domains, Cys-rich ...
    cl21460
    Location:806849
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  4. XM_017020490.2XP_016875979.1  phospholipid-transporting ATPase IH isoform X1

  5. XM_017020491.2XP_016875980.1  phospholipid-transporting ATPase IH isoform X2

  6. XM_017020492.2XP_016875981.1  phospholipid-transporting ATPase IH isoform X4

    UniProtKB/Swiss-Prot
    P98196, Q5VXT2
    UniProtKB/TrEMBL
    H0Y547
    Conserved Domains (7) summary
    TIGR01652
    Location:451109
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:102187
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:477585
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16209
    Location:4295
    PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
    pfam16212
    Location:8511103
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl00297
    Location:639695
    R3H; R3H domain. The name of the R3H domain comes from the characteristic spacing of the most conserved arginine and histidine residues. R3H domains are found in proteins together with ATPase domains, SF1 helicase domains, SF2 DEAH helicase domains, Cys-rich ...
    cl21460
    Location:806849
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  7. XM_047430219.1XP_047286175.1  phospholipid-transporting ATPase IH isoform X5

  8. XM_047430218.1XP_047286174.1  phospholipid-transporting ATPase IH isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    111938073..112137143
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374319.1XP_054230294.1  phospholipid-transporting ATPase IH isoform X3

  2. XM_054374321.1XP_054230296.1  phospholipid-transporting ATPase IH isoform X4

  3. XM_054374320.1XP_054230295.1  phospholipid-transporting ATPase IH isoform X3

  4. XM_054374317.1XP_054230292.1  phospholipid-transporting ATPase IH isoform X1

  5. XM_054374318.1XP_054230293.1  phospholipid-transporting ATPase IH isoform X2

  6. XM_054374322.1XP_054230297.1  phospholipid-transporting ATPase IH isoform X5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_032210.1: Suppressed sequence

    Description
    NM_032210.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.