P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports am... See more...

Aliases for ATP11B Gene

Aliases for ATP11B Gene

  • ATPase Phospholipid Transporting 11B (Putative) 2 3 5
  • P4-ATPase Flippase Complex Alpha Subunit ATP11B 3 4
  • Probable Phospholipid-Transporting ATPase IF 3 4
  • ATPase, Class VI, Type 11B 2 3
  • ATPase IR 3 4
  • ATPIF 3 4
  • ATPIR 3 4
  • Truncated ATPase 11B Protein 3
  • ATPase Class VI Type 11B 4
  • EC 3.6.3.1 52
  • EC 7.6.2.1 4
  • KIAA0956 4
  • EC 3.6.3 52

External Ids for ATP11B Gene

Previous GeneCards Identifiers for ATP11B Gene

  • GC03P179338
  • GC03P183431
  • GC03P183979
  • GC03P183832
  • GC03P183993
  • GC03P182511
  • GC03P179916

Summaries for ATP11B Gene

Entrez Gene Summary for ATP11B Gene

  • P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]

GeneCards Summary for ATP11B Gene

ATP11B (ATPase Phospholipid Transporting 11B (Putative)) is a Protein Coding gene. Diseases associated with ATP11B include Cholestasis, Benign Recurrent Intrahepatic, 1 and Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome. Among its related pathways are Innate Immune System and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP11A.

UniProtKB/Swiss-Prot Summary for ATP11B 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). Involved in regulation of sensitivity to cisplatin; may contribute to secretory vesicle transport of cisplatin from Golgi to plasma membrane.

Gene Wiki entry for ATP11B Gene

Additional gene information for ATP11B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP11B Gene

Genomics for ATP11B Gene

GeneHancer (GH) Regulatory Elements for ATP11B Gene

Promoters and enhancers for ATP11B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J182792 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 528.4 +1.0 1028 5.1 ZBTB40 ZNF217 SIN3A POLR2G PHF8 ZFX POLR2A ZBTB10 CLOCK ZBTB11 ATP11B ENSG00000240063 LOC105374245 MCCC1 piR-38580-211
GH03J182895 Promoter/Enhancer 1.4 EPDnew FANTOM5 Ensembl ENCODE 511 +102.7 102743 2.3 NR2F2 USF1 JUND HOMEZ NFE2 RXRA MAX HNF4A REST YY1 ATP11B MCCC1 piR-31937-147 NONHSAG036807.2 piR-42694-120
GH03J183697 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 12.4 +905.5 905498 4 EP300 MYC USF1 POLR2G PHF8 POLR2A ZBTB10 ZBTB11 ZBTB26 TARDBP YEATS2 DVL3 ENSG00000228205 PARL ATP11B POLR2H YEATS2-AS1 RF00994-709
GH03J183210 Enhancer 1.1 FANTOM5 ENCODE 20 +418.8 418844 4.5 SKI TEAD1 FOXA2 NR2F2 CEBPB USF1 CTCF TFDP1 SAP130 MEF2B B3GNT5 ATP11B RNA5SP151 KLHL6 LAMP3 MCF2L2 MCCC1 KLHL24 DCUN1D1 lnc-LAMP3-1
GH03J183252 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.5 +461.4 461423 5.6 NRF1 POLR2A ZNF263 GABPA ZBTB26 HES1 MYC RUNX1 CTBP1 EZH2 B3GNT5 lnc-ATP11B-10 KLHL6 ATP11B KLHL24 RF00001-233 RNA5SP151 MCF2L2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP11B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP11B

Top Transcription factor binding sites by QIAGEN in the ATP11B gene promoter:
  • aMEF-2
  • MEF-2A
  • NF-kappaB1
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A

Genomic Locations for ATP11B Gene

Genomic Locations for ATP11B Gene
chr3:182,793,503-182,921,635
(GRCh38/hg38)
Size:
128,133 bases
Orientation:
Plus strand
chr3:182,511,288-182,639,423
(GRCh37/hg19)
Size:
128,136 bases
Orientation:
Plus strand

Genomic View for ATP11B Gene

Genes around ATP11B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP11B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP11B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP11B Gene

Proteins for ATP11B Gene

  • Protein details for ATP11B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2G3-AT11B_HUMAN
    Recommended name:
    Probable phospholipid-transporting ATPase IF
    Protein Accession:
    Q9Y2G3
    Secondary Accessions:
    • Q96FN1
    • Q9UKK7

    Protein attributes for ATP11B Gene

    Size:
    1177 amino acids
    Molecular mass:
    134190 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:
    • Depletion of ATP11B by RNAi restores sensitivity of ovarian cancer cells to cisplatin.
    SequenceCaution:
    • Sequence=AAH10630.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH42180.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

neXtProt entry for ATP11B Gene

Selected DME Specific Peptides for ATP11B Gene

Q9Y2G3:
  • KSQKRSAVEKS
  • NDVSMIQ
  • FPADLVLLSS
  • WVLTGDK
  • DGETNLK
  • DKTGTLT
  • LNEELGQV
  • LLGATAVED
  • GKEGRQA
  • LFEQFRR
  • PQFLYQF
  • GNWTFGT
  • DTPTSPVTSGLPLFFVITVTAIKQGYED

Post-translational modifications for ATP11B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ATP11B Gene

Gene Families for ATP11B Gene

Suggested Antigen Peptide Sequences for ATP11B Gene

GenScript: Design optimal peptide antigens:
  • Truncated ATPase 11B protein (A5XEH5_HUMAN)
  • ATPase class VI type 11B (AT11B_HUMAN)
  • ATP11B protein (Q8N4L6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y2G3

UniProtKB/Swiss-Prot:

AT11B_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 ATP11B: view

Function for ATP11B Gene

Molecular function for ATP11B Gene

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). Involved in regulation of sensitivity to cisplatin; may contribute to secretory vesicle transport of cisplatin from Golgi to plasma membrane.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).; EC=7.6.2.1;.

Enzyme Numbers (IUBMB) for ATP11B Gene

Phenotypes From GWAS Catalog for ATP11B Gene

Gene Ontology (GO) - Molecular Function for ATP11B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0005515 protein binding IPI 21914794
GO:0005524 ATP binding IEA --
GO:0015075 ion transmembrane transporter activity NAS 11790799
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ATP11B: view
genes like me logo Genes that share phenotypes with ATP11B: view

Animal Model Products

CRISPR Products

miRNA for ATP11B Gene

miRTarBase miRNAs that target ATP11B

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP11B Gene

Localization for ATP11B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP11B Gene

Recycling endosome membrane; Multi-pass membrane protein. Early endosome. Endoplasmic reticulum. Golgi apparatus, trans-Golgi network. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not TMEM30B (PubMed:21914794). In the presence of TMEM30A, mainly located in recycling endosomes (PubMed:21914794). {ECO:0000269 PubMed:21914794}.

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 ATP11B gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
endosome 5
plasma membrane 4
lysosome 4
golgi apparatus 3
cytoskeleton 2
cytosol 2
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATP11B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005637 nuclear inner membrane NAS 11790799
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
GO:0005783 endoplasmic reticulum IDA,IBA 21914794
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with ATP11B: view

Pathways & Interactions for ATP11B Gene

genes like me logo Genes that share pathways with ATP11B: view

Pathways by source for ATP11B Gene

Gene Ontology (GO) - Biological Process for ATP11B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport NAS 11790799
GO:0006869 lipid transport IEA --
GO:0015914 phospholipid transport IEA --
GO:0015917 aminophospholipid transport TAS 11015572
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with ATP11B: view

No data available for SIGNOR curated interactions for ATP11B Gene

Drugs & Compounds for ATP11B Gene

(2) Drugs for ATP11B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(401) Additional Compounds for ATP11B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
PA(16:0/16:0)
  • 1,2-Dipalmitoyl-3-sn-phosphatidic acid
  • 1,2-Dipalmitoyl-sn-glycerol-3-phosphate
  • 1,2-Dipalmitoyl-sn-glycerol-3-phosphoric acid
  • Dipalmitoyl phosphatidic acid
  • PA(32:0)
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))
  • (2R)-1-(Palmitoyloxy)-3-(phosphonooxy)propan-2-yl (9Z)-octadec-9-enoate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycerol 3-phosphate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • PA(16:0/18:1)
PA(16:0/18:2(9Z,12Z))
  • 1-16:0-2-18:2-Phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • 16:0-18:2-PA
  • 2-Linoleoyl-1-palmitoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
genes like me logo Genes that share compounds with ATP11B: view

Transcripts for ATP11B Gene

mRNA/cDNA for ATP11B Gene

1 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP11B Gene

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

Relevant External Links for ATP11B Gene

GeneLoc Exon Structure for
ATP11B

Expression for ATP11B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP11B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP11B Gene

This gene is overexpressed in Whole Blood (x6.1).

Protein differential expression in normal tissues from HIPED for ATP11B Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (39.4) and Amniocyte (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP11B Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP11B

SOURCE GeneReport for Unigene cluster for ATP11B Gene:

Hs.478429

Evidence on tissue expression from TISSUES for ATP11B Gene

  • Intestine(4.3)
  • Liver(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with ATP11B: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP11B Gene

Orthologs for ATP11B Gene

This gene was present in the common ancestor of animals.

Orthologs for ATP11B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP11B 31 30
  • 99.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ATP11B 31 30
  • 93.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ATP11B 31 30
  • 92.92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Atp11b 17 31 30
  • 90.7 (n)
oppossum
(Monodelphis domestica)
Mammalia ATP11B 31
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp11b 30
  • 87.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATP11B 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP11B 31 30
  • 80.92 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP11B 31
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp11b 30
  • 76.61 (n)
zebrafish
(Danio rerio)
Actinopterygii atp11b 31
  • 81 (a)
OneToOne
si:dkey-211e20.10 30
  • 71.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4301 31 32 30
  • 47.48 (n)
ManyToMany
CG9981 31
  • 39 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000390 30
  • 47.23 (n)
worm
(Caenorhabditis elegans)
Secernentea T24H7.5b 32
  • 38 (a)
T24H7.5a 32
  • 38 (a)
Species where no ortholog for ATP11B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)

Evolution for ATP11B Gene

ENSEMBL:
Gene Tree for ATP11B (if available)
TreeFam:
Gene Tree for ATP11B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP11B: view image

Paralogs for ATP11B Gene

(12) SIMAP similar genes for ATP11B Gene using alignment to 9 proteins:

  • AT11B_HUMAN
  • A5XEH5_HUMAN
  • H0Y854_HUMAN
  • H0Y8C7_HUMAN
  • H7C4E6_HUMAN
  • H7C4W6_HUMAN
  • H7C575_HUMAN
  • L8E9M9_HUMAN
  • Q8N4L6_HUMAN
genes like me logo Genes that share paralogs with ATP11B: view

Variants for ATP11B Gene

Additional dbSNP identifiers (rs#s) for ATP11B Gene

Structural Variations from Database of Genomic Variants (DGV) for ATP11B Gene

Variant ID Type Subtype PubMed ID
dgv2649n106 CNV deletion 24896259
nsv482968 CNV gain 15286789

Variation tolerance for ATP11B Gene

Residual Variation Intolerance Score: 55.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.70; 57.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP11B Gene

Human Gene Mutation Database (HGMD)
ATP11B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP11B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP11B Gene

Disorders for ATP11B Gene

MalaCards: The human disease database

(4) MalaCards diseases for ATP11B Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP11B

genes like me logo Genes that share disorders with ATP11B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP11B Gene

Publications for ATP11B Gene

  1. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 54
  2. Differential expression of putative transbilayer amphipath transporters. (PMID: 11015572) Halleck MS … Schlegel RA (Physiological genomics 1999) 2 3 4 54
  3. ATP11B mediates platinum resistance in ovarian cancer. (PMID: 23585472) Moreno-Smith M … Sood AK (The Journal of clinical investigation 2013) 3 4 54
  4. 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 HW (The Journal of biological chemistry 2011) 3 4 54
  5. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 3 4 54

Products for ATP11B Gene

  • Signalway ELISA kits for ATP11B
  • Signalway Proteins for ATP11B

Sources for ATP11B Gene