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

Gene ID: 23250, updated on 22-Aug-2020

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
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
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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in lung (RPKM 20.5), gall bladder (RPKM 8.1) and 25 other tissues See more
Orthologs

Genomic context

See ATP11A in Genome Data Viewer
Location:
13q34
Exon count:
33
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (112690034..112887168)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (113344358..113541482)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATP11A upstream neighbor Neighboring gene uncharacterized LOC102725228 Neighboring gene Sharpr-MPRA regulatory region 8271 Neighboring gene ATP11A antisense RNA 1 Neighboring gene MCF.2 cell line derived transforming sequence like Neighboring gene MCF2L antisense RNA 1 Neighboring gene uncharacterized LOC107984591

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
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
GeneReviews: Not available
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation 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 
Component Evidence Code Pubs
early endosome IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lysosomal membrane HDA PubMed 
membrane HDA PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
recycling endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
recycling endosome IDA
Inferred from Direct Assay
more info
PubMed 
specific granule membrane TAS
Traceable Author Statement
more info
 
tertiary granule membrane TAS
Traceable Author Statement
more info
 
trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
probable 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
NP_056020.2
NP_115565.3
XP_005268356.1
XP_005268357.1
XP_005268358.1
XP_005268360.1
XP_005268362.1
XP_005268363.1
XP_011535782.1
XP_016875979.1
XP_016875980.1
XP_016875981.1

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.

mRNA and Protein(s)

  1. NM_015205.3NP_056020.2  probable phospholipid-transporting ATPase IH isoform a

    See identical proteins and their annotated locations for NP_056020.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes isoform a.
    Source sequence(s)
    AB028944, AI703438, AL139384, AL161996, AL356740, AL356752, BC024154, BE675783
    Consensus CDS
    CCDS32011.1
    UniProtKB/Swiss-Prot
    P98196
    UniProtKB/TrEMBL
    Q659C3, Q6PJ25
    Related
    ENSP00000364796.3, ENST00000375645.7
    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
  2. NM_032189.4NP_115565.3  probable phospholipid-transporting ATPase IH isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate coding exon and uses an alternate splice site in the 3' portion of the CDS compared to variant 1, that causes a frameshift. The resulting isoform (b) has a longer and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AB028944, AI703438, AL139384, AL161996, AL356740, AL356752, BC024154, BE675783
    UniProtKB/Swiss-Prot
    P98196
    UniProtKB/TrEMBL
    E9PEJ6, Q659C3, Q6PJ25
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    112690034..112887168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268299.4XP_005268356.1  probable phospholipid-transporting ATPase IH isoform X1

    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_005268301.4XP_005268358.1  probable phospholipid-transporting ATPase IH isoform X5

    See identical proteins and their annotated locations for XP_005268358.1

    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
  3. XM_005268303.4XP_005268360.1  probable phospholipid-transporting ATPase IH isoform X5

    See identical proteins and their annotated locations for XP_005268360.1

    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_011537480.2XP_011535782.1  probable phospholipid-transporting ATPase IH isoform X5

    See identical proteins and their annotated locations for XP_011535782.1

    Related
    ENSP00000396374.1, ENST00000418678.5
    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
  5. XM_017020490.1XP_016875979.1  probable phospholipid-transporting ATPase IH isoform X3

  6. XM_017020491.1XP_016875980.1  probable phospholipid-transporting ATPase IH isoform X4

  7. XM_005268305.4XP_005268362.1  probable phospholipid-transporting ATPase IH isoform X6

    See identical proteins and their annotated locations for XP_005268362.1

    UniProtKB/Swiss-Prot
    P98196
    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
  8. XM_005268306.4XP_005268363.1  probable phospholipid-transporting ATPase IH isoform X6

    See identical proteins and their annotated locations for XP_005268363.1

    UniProtKB/Swiss-Prot
    P98196
    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
  9. XM_005268300.4XP_005268357.1  probable phospholipid-transporting ATPase IH isoform X2

    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
  10. XM_017020492.1XP_016875981.1  probable phospholipid-transporting ATPase IH isoform X6

    UniProtKB/Swiss-Prot
    P98196
    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
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