Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ATP11A Gene

Aliases for ATP11A Gene

  • ATPase Phospholipid Transporting 11A 2 3 5
  • P4-ATPase Flippase Complex Alpha Subunit ATP11A 3 4
  • Potential Phospholipid-Transporting ATPase IH 2 3
  • Phospholipid-Translocating ATPase 2 3
  • ATPase, Class VI, Type 11A 2 3
  • EC 3.6.3.1 4 61
  • ATPIH 3 4
  • ATPIS 3 4
  • Probable Phospholipid-Transporting ATPase IH 3
  • ATPase Class VI Type 11A 4
  • ATPase IS 4
  • KIAA1021 4
  • EC 3.6.3 61

External Ids for ATP11A Gene

Previous GeneCards Identifiers for ATP11A Gene

  • GC13P112090
  • GC13P107981
  • GC13P112526
  • GC13P111385
  • GC13P112487
  • GC13P112393
  • GC13P113344
  • GC13P093786

Summaries for ATP11A Gene

Entrez Gene Summary for ATP11A Gene

  • 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]

GeneCards Summary for ATP11A Gene

ATP11A (ATPase Phospholipid Transporting 11A) is a Protein Coding gene. Diseases associated with ATP11A include Pulmonary Fibrosis, Idiopathic and Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Innate Immune System. GO annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP11C.

UniProtKB/Swiss-Prot for ATP11A Gene

  • Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). May be involved in the uptake of farnesyltransferase inhibitor drugs, such as lonafarnib.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP11A Gene

Genomics for ATP11A Gene

Regulatory Elements for ATP11A Gene

Enhancers for ATP11A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13G112781 1.6 FANTOM5 Ensembl ENCODE dbSUPER 18.4 +92.8 92825 3.3 FOXA2 DMAP1 RAD21 ZSCAN9 YY1 ZEB1 ZNF121 ZEB2 RAD51 RCOR2 ATP11A ATP11A-AS1 ATP11AUN ENSG00000277545
GH13G112767 1.6 FANTOM5 Ensembl ENCODE dbSUPER 17.2 +78.2 78182 1.4 HDGF PKNOX1 BACH1 BMI1 RELA ZFHX2 RELB IKZF2 CHD2 MTA2 ATP11A ATP11AUN MCF2L ATP11A-AS1 ENSG00000277545
GH13G112718 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.9 +31.1 31122 5.7 PKNOX1 FOXA2 ZFP64 ARID4B GLI4 ZNF48 GATA2 FOS ZHX2 REST ATP11A-AS1 ATP11A GC13M112689 PIR54522
GH13G112791 0.9 ENCODE dbSUPER 18.4 +102.0 101971 1.9 CTCF FOXA2 JUND GLIS1 BHLHE40 FOS HNRNPL ZIC2 ATP11A ATP11A-AS1 ATP11AUN ENSG00000277545
GH13G112885 1.4 Ensembl ENCODE dbSUPER 11 +195.9 195890 1.1 ARID4B SIN3A FEZF1 ZNF48 RAD21 GLIS2 PCBP1 DEK PAF1 SP3 ATP11A ATP11AUN ATP11A-AS1 GC13P112885 MCF2L
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP11A on UCSC Golden Path with GeneCards custom track

Promoters for ATP11A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000066014 351 2801 HDGF CREB3L1 ARID4B DMAP1 ZNF143 ZNF263 SP3 SP5 KAT8 SMARCA4

Genomic Location for ATP11A Gene

Chromosome:
13
Start:
112,690,049 bp from pter
End:
112,887,168 bp from pter
Size:
197,120 bases
Orientation:
Plus strand

Genomic View for ATP11A Gene

Genes around ATP11A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP11A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP11A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP11A Gene

Proteins for ATP11A Gene

  • Protein details for ATP11A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P98196-AT11A_HUMAN
    Recommended name:
    Probable phospholipid-transporting ATPase IH
    Protein Accession:
    P98196
    Secondary Accessions:
    • Q5VXT2

    Protein attributes for ATP11A Gene

    Size:
    1134 amino acids
    Molecular mass:
    129756 Da
    Quaternary structure:
    • Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit and an accessory beta subunit (Probable). Interacts with beta subunit TMEM30A.
    Miscellaneous:
    • Overexpression of ATP11A confers resistance to lonafarnib.

neXtProt entry for ATP11A Gene

Selected DME Specific Peptides for ATP11A Gene

P98196:
  • TLAIGDG
  • KSQKRSAVEKS
  • IGDGANDVSMI
  • RHKADNA
  • WVLTGDK
  • DKTGTLT
  • LNEELGQV
  • LLGATAVED
  • SSPDEVALV
  • GKEGRQA
  • LFEQFRR
  • PQFLYQF
  • GNWTFGT
  • LAIGDGA
  • DTPTSPVTSGLPLFFVITVTAIKQGYED

Post-translational modifications for ATP11A Gene

  • Ubiquitination at Lys702
  • Modification sites at PhosphoSitePlus

Domains & Families for ATP11A Gene

Gene Families for ATP11A Gene

Graphical View of Domain Structure for InterPro Entry

P98196

UniProtKB/Swiss-Prot:

AT11A_HUMAN :
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
genes like me logo Genes that share domains with ATP11A: view

Function for ATP11A Gene

Molecular function for ATP11A Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).
UniProtKB/Swiss-Prot Function:
Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable). May be involved in the uptake of farnesyltransferase inhibitor drugs, such as lonafarnib.

Enzyme Numbers (IUBMB) for ATP11A Gene

Gene Ontology (GO) - Molecular Function for ATP11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004012 phospholipid-translocating ATPase activity IBA,IEA --
GO:0005515 protein binding IPI 21914794
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ATP11A: view
genes like me logo Genes that share phenotypes with ATP11A: view

Animal Models for ATP11A Gene

MGI Knock Outs for ATP11A:

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP11A

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP11A Gene

Localization for ATP11A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP11A Gene

Cell membrane; Multi-pass membrane protein. Early endosome. Recycling endosome. Endoplasmic reticulum. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not TMEM30B. In the presence of TMEM30A, predominantly located in the plasma membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP11A gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
lysosome 5
endosome 5
extracellular 2
cytoskeleton 2
mitochondrion 2
cytosol 2
golgi apparatus 2
nucleus 1

Gene Ontology (GO) - Cellular Components for ATP11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 17897319
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
GO:0005783 endoplasmic reticulum IDA,IEA 21914794
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with ATP11A: view

Pathways & Interactions for ATP11A Gene

genes like me logo Genes that share pathways with ATP11A: view

Pathways by source for ATP11A Gene

Interacting Proteins for ATP11A Gene

Gene Ontology (GO) - Biological Process for ATP11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0015914 phospholipid transport IEA --
GO:0043312 neutrophil degranulation TAS --
GO:0045332 phospholipid translocation IEA,NAS 21914794
genes like me logo Genes that share ontologies with ATP11A: view

No data available for SIGNOR curated interactions for ATP11A Gene

Drugs & Compounds for ATP11A Gene

(2) Drugs for ATP11A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0

(401) Additional Compounds for ATP11A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
PA(16:0/16:0)
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphorate
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphoric acid
  • 1,2-Dihexadecanoyl-rac-phosphatidic acid
  • 1,2-Dipalmitoyl-3-sn-phosphatidate
  • 1,2-Dipalmitoyl-3-sn-phosphatidic acid
7091-44-3
PA(16:0/18:1(11Z))
  • 1-Hexadecanoyl-2-(11Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-vaccenoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n7)
  • PA(16:0/18:1w7)
PA(16:0/18:1(9Z))
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-oleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n9)
  • PA(16:0/18:1w9)
PA(16:0/18:2(9Z,12Z))
  • 1-Hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
  • PA(16:0/18:2n6)
  • PA(16:0/18:2w6)
genes like me logo Genes that share compounds with ATP11A: view

Transcripts for ATP11A Gene

Unigene Clusters for ATP11A Gene

ATPase, class VI, type 11A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP11A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:

ExUns: 24 ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30a · 30b · 30c
SP1: -
SP2:
SP3:
SP4: - - - -
SP5:
SP6: - - -

Relevant External Links for ATP11A Gene

GeneLoc Exon Structure for
ATP11A
ECgene alternative splicing isoforms for
ATP11A

Expression for ATP11A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP11A Gene

Protein differential expression in normal tissues from HIPED for ATP11A Gene

This gene is overexpressed in Serum (56.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP11A Gene



NURSA nuclear receptor signaling pathways regulating expression of ATP11A Gene:

ATP11A

SOURCE GeneReport for Unigene cluster for ATP11A Gene:

Hs.29189

Evidence on tissue expression from TISSUES for ATP11A Gene

  • Nervous system(4.8)
  • Lung(3.7)
  • Adrenal gland(3.4)
  • Heart(3.2)
  • Kidney(3.1)
  • Muscle(2.9)
  • Liver(2.8)
  • Eye(2.6)
  • Stomach(2.2)
  • Blood(2.1)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP11A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • bronchus
  • esophagus
  • heart
  • lung
  • trachea
Abdomen:
  • kidney
  • liver
  • spleen
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with ATP11A: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ATP11A Gene

Orthologs for ATP11A Gene

This gene was present in the common ancestor of animals.

Orthologs for ATP11A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP11A 35 34
  • 99.27 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP11A 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP11A 35 34
  • 85.37 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ATP11A 35 34
  • 84.68 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp11a 34
  • 83.72 (n)
mouse
(Mus musculus)
Mammalia Atp11a 35 16 34
  • 83.35 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP11A 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP11A 35 34
  • 76.76 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP11A 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp11a 34
  • 75.12 (n)
zebrafish
(Danio rerio)
Actinopterygii atp11a 35 34
  • 74.77 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9981 36 35
  • 36 (a)
CG4301 35 36
  • 32 (a)
ManyToMany
Species where no ortholog for ATP11A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ATP11A Gene

ENSEMBL:
Gene Tree for ATP11A (if available)
TreeFam:
Gene Tree for ATP11A (if available)

Paralogs for ATP11A Gene

Variants for ATP11A Gene

Sequence variations from dbSNP and Humsavar for ATP11A Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1000003516 -- 112,775,636(+) AGCAA(A/G)AATGT intron-variant
rs1000010128 -- 112,827,189(+) CAGCC(-/T)TTGCA intron-variant
rs1000011278 -- 112,874,033(+) GCGCC(A/G)TCATC intron-variant
rs1000051739 -- 112,717,961(+) AATCC(C/T)AGCTA intron-variant
rs1000068379 -- 112,880,016(+) GCCCA(C/T)TCAGA intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ATP11A Gene

Variant ID Type Subtype PubMed ID
dgv1124e59 CNV duplication 20981092
dgv1128e59 CNV duplication 20981092
dgv247e201 CNV deletion 23290073
dgv248e201 CNV deletion 23290073
dgv249e201 CNV deletion 23290073
dgv3417n54 CNV gain 21841781
dgv3418n54 CNV gain+loss 21841781
dgv3419n54 CNV gain 21841781
dgv3420n54 CNV loss 21841781
dgv3421n54 CNV loss 21841781
dgv3422n54 CNV loss 21841781
dgv3423n54 CNV loss 21841781
dgv382e199 CNV deletion 23128226
esv1002063 CNV deletion 20482838
esv1002642 CNV deletion 20482838
esv1045101 CNV deletion 17803354
esv1086325 CNV deletion 17803354
esv1122094 CNV insertion 17803354
esv1152919 CNV insertion 17803354
esv1397948 CNV insertion 17803354
esv1436593 CNV insertion 17803354
esv1479750 CNV deletion 17803354
esv1527034 CNV deletion 17803354
esv1528241 CNV insertion 17803354
esv1564397 CNV insertion 17803354
esv1622900 CNV deletion 17803354
esv1664651 CNV deletion 17803354
esv1690416 CNV insertion 17803354
esv1707874 CNV deletion 17803354
esv1761970 CNV deletion 17803354
esv1774255 CNV deletion 17803354
esv2099073 CNV deletion 18987734
esv22913 CNV gain+loss 19812545
esv2378148 CNV deletion 18987734
esv2456017 CNV deletion 19546169
esv2466127 CNV deletion 19546169
esv2472921 CNV insertion 19546169
esv2510072 CNV insertion 19546169
esv2546115 CNV deletion 19546169
esv26123 CNV loss 19812545
esv2656956 CNV deletion 23128226
esv2662347 CNV deletion 23128226
esv2678860 CNV deletion 23128226
esv2741315 CNV deletion 23290073
esv2748171 CNV deletion 23290073
esv2748172 CNV deletion 23290073
esv2748173 CNV deletion 23290073
esv2748175 CNV deletion 23290073
esv2748176 CNV deletion 23290073
esv2748177 CNV deletion 23290073
esv2748178 CNV deletion 23290073
esv2748179 CNV deletion 23290073
esv2748180 CNV deletion 23290073
esv2748181 CNV deletion 23290073
esv2748182 CNV deletion 23290073
esv2748183 CNV deletion 23290073
esv2748184 CNV deletion 23290073
esv2748186 CNV deletion 23290073
esv2748187 CNV deletion 23290073
esv2748188 CNV deletion 23290073
esv2748190 CNV deletion 23290073
esv2748191 CNV deletion 23290073
esv2748192 CNV deletion 23290073
esv2748193 CNV deletion 23290073
esv2748194 CNV deletion 23290073
esv2748195 CNV deletion 23290073
esv2748197 CNV deletion 23290073
esv2748198 CNV deletion 23290073
esv2748199 CNV deletion 23290073
esv2748200 CNV deletion 23290073
esv2748201 CNV deletion 23290073
esv2748202 CNV deletion 23290073
esv2748203 CNV deletion 23290073
esv2748204 CNV deletion 23290073
esv2748205 CNV deletion 23290073
esv2759969 CNV loss 17122850
esv28043 CNV gain 19812545
esv28063 CNV gain 19812545
esv29563 CNV gain+loss 19812545
esv3247163 CNV deletion 24192839
esv3334178 CNV duplication 20981092
esv3377972 CNV duplication 20981092
esv3551128 CNV deletion 23714750
esv3551129 CNV deletion 23714750
esv3580909 CNV loss 25503493
esv3582849 CNV gain 25503493
esv3606 CNV loss 18987735
esv3633585 CNV loss 21293372
esv3633587 CNV loss 21293372
esv3633588 CNV loss 21293372
esv997044 CNV deletion 20482838
nsv1037307 CNV gain 25217958
nsv1044644 CNV gain 25217958
nsv1045238 CNV gain 25217958
nsv1047144 CNV gain 25217958
nsv1069777 CNV deletion 25765185
nsv1069778 CNV deletion 25765185
nsv1075452 CNV duplication 25765185
nsv1112266 CNV deletion 24896259
nsv1118275 CNV deletion 24896259
nsv1121500 CNV deletion 24896259
nsv1122871 CNV deletion 24896259
nsv1124933 CNV deletion 24896259
nsv1124936 CNV deletion 24896259
nsv1125582 CNV tandem duplication 24896259
nsv1129172 CNV insertion 24896259
nsv1130679 CNV deletion 24896259
nsv1144702 CNV deletion 24896259
nsv1150977 CNV deletion 26484159
nsv1192 CNV insertion 18451855
nsv1193 CNV insertion 18451855
nsv428291 CNV loss 18775914
nsv476767 CNV novel sequence insertion 20440878
nsv509518 CNV insertion 20534489
nsv511521 CNV loss 21212237
nsv512340 CNV loss 21212237
nsv513401 CNV insertion 21212237
nsv518792 CNV loss 19592680
nsv524253 CNV loss 19592680
nsv563228 CNV gain 21841781
nsv563229 CNV loss 21841781
nsv563230 CNV gain 21841781
nsv563231 CNV loss 21841781
nsv563232 CNV gain 21841781
nsv563233 CNV loss 21841781
nsv563234 CNV gain+loss 21841781
nsv563235 CNV loss 21841781
nsv563239 CNV gain 21841781
nsv563245 CNV loss 21841781
nsv563247 CNV loss 21841781
nsv563250 CNV loss 21841781
nsv563252 CNV loss 21841781
nsv563255 CNV loss 21841781
nsv64365 CNV deletion 16902084
nsv64453 CNV deletion 16902084
nsv64496 CNV deletion 16902084
nsv64912 CNV deletion 16902084
nsv64969 CNV deletion 16902084
nsv820556 CNV deletion 20802225
nsv821077 CNV duplication 20802225
nsv821432 CNV deletion 20802225
nsv832723 CNV loss 17160897
nsv9110 CNV gain 18304495

Variation tolerance for ATP11A Gene

Residual Variation Intolerance Score: 6.13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.52; 55.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP11A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP11A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP11A Gene

Disorders for ATP11A Gene

MalaCards: The human disease database

(4) MalaCards diseases for ATP11A Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pulmonary fibrosis, idiopathic
  • idiopathic pulmonary fibrosis
cerebellar ataxia, mental retardation and dysequlibrium syndrome
  • camrq
toxic myocarditis
cataract 1, multiple types
  • cataract 1 multiple types
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ATP11A

Genetic Association Database (GAD)
ATP11A
Human Genome Epidemiology (HuGE) Navigator
ATP11A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP11A
genes like me logo Genes that share disorders with ATP11A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP11A Gene

Publications for ATP11A Gene

  1. Human Type IV P-type ATPases That Work as Plasma Membrane Phospholipid Flippases and Their Regulation by Caspase and Calcium. (PMID: 26567335) Segawa K. … Nagata S. (J. Biol. Chem. 2016) 2 3 64
  2. ATP9B, a P4-ATPase (a putative aminophospholipid translocase), localizes to the trans-Golgi network in a CDC50 protein-independent manner. (PMID: 21914794) Takatsu H. … Shin H.W. (J. Biol. Chem. 2011) 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 3 4 64
  5. Differential expression of putative transbilayer amphipath transporters. (PMID: 11015572) Halleck M.S. … Schlegel R.A. (Physiol. Genomics 1999) 2 3 64

Products for ATP11A Gene

Sources for ATP11A Gene

Content
Loading form....