Aliases for ATP10B Gene

Aliases for ATP10B Gene

  • ATPase Phospholipid Transporting 10B (Putative) 2 3 5
  • ATPVB 2 3 4
  • P4-ATPase Flippase Complex Alpha Subunit ATP10B 3 4
  • Probable Phospholipid-Transporting ATPase VB 3 4
  • ATPase, Class V, Type 10B 2 3
  • KIAA0715 2 4
  • ATPase Class V Type 10B 4
  • EC 3.6.3.1 51
  • EC 7.6.2.1 4
  • FLJ21477 2
  • EC 3.6.3 51
  • ATP10B 5

External Ids for ATP10B Gene

Previous GeneCards Identifiers for ATP10B Gene

  • GC05M160108
  • GC05M159925
  • GC05M159971
  • GC05M159922
  • GC05U900563
  • GC05M155082

Summaries for ATP10B Gene

GeneCards Summary for ATP10B Gene

ATP10B (ATPase Phospholipid Transporting 10B (Putative)) is a Protein Coding gene. Diseases associated with ATP10B include Cholestasis, Benign Recurrent Intrahepatic, 1 and Waardenburg Syndrome, Type 4C. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Gene Ontology (GO) annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP10D.

UniProtKB/Swiss-Prot Summary for ATP10B 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).

Additional gene information for ATP10B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP10B Gene

Genomics for ATP10B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP10B 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
GH05J160938 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 600.4 -9.2 -9154 0.9 PRDM10 ZNF629 CEBPA SOX13 NFE2 CEBPB ZSCAN5C MAFF ZNF592 MAFK LINC02159 ATP10B GABRA6
GH05J160929 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE dbSUPER 605.7 -0.3 -290 3.8 ATF7 TEAD4 SCRT2 CTBP1 ATF2 SCRT1 MAFK ATP10B LINC02159 GABRA6
GH05J160852 Promoter 0.3 EPDnew 600.2 +77.2 77185 0.1 RF00017-5066 lnc-ATP10B-4 ATP10B piR-52368-132 PTTG1
GH05J160824 Enhancer 0.3 Ensembl 52.2 +104.5 104510 1.8 SPI1 ATP10B lnc-ATP10B-4 RF00017-5066 piR-31936-040 PTTG1
GH05J160691 Enhancer 0.7 Ensembl ENCODE dbSUPER 20.4 +235.5 235511 4.6 SPI1 HLF ATP10B ENSG00000253687 ENSG00000254391 piR-56341-192 piR-52680-286 lnc-ATP10B-4 PTTG1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP10B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP10B

Top Transcription factor binding sites by QIAGEN in the ATP10B gene promoter:
  • ARP-1
  • Cart-1
  • CUTL1
  • E47
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • Tal-1

Genomic Locations for ATP10B Gene

Genomic Locations for ATP10B Gene
chr5:160,563,120-160,929,411
(GRCh38/hg38)
Size:
366,292 bases
Orientation:
Minus strand
chr5:159,990,127-160,279,221
(GRCh37/hg19)
Size:
289,095 bases
Orientation:
Minus strand

Genomic View for ATP10B Gene

Genes around ATP10B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP10B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP10B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP10B Gene

Proteins for ATP10B Gene

  • Protein details for ATP10B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94823-AT10B_HUMAN
    Recommended name:
    Probable phospholipid-transporting ATPase VB
    Protein Accession:
    O94823
    Secondary Accessions:
    • Q9H725

    Protein attributes for ATP10B Gene

    Size:
    1461 amino acids
    Molecular mass:
    165391 Da
    Quaternary structure:
    • Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit and an accessory beta subunit.
    SequenceCaution:
    • Sequence=BAA34435.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ATP10B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP10B Gene

Selected DME Specific Peptides for ATP10B Gene

O94823:
  • YVNLLFWYQFFCGFS
  • YEAESPDE
  • EGMQAVM
  • LLGATGIEDRLQ
  • FDSVRKRMSVV
  • LLLRGCTIRNTE
  • IGDGANDVSMI
  • VYTKGADSV
  • NDVSMIQ
  • ETKAMLNNSG
  • FSDKTGTLT
  • WVLTGDK
  • DGETNLK
  • LTGDKQETA
  • DKTGTLT
  • PISLYVS
  • RKRMSVV
  • LNNSGPRYKRS

Post-translational modifications for ATP10B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ATP10B Gene

Gene Families for ATP10B Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for ATP10B Gene

GenScript: Design optimal peptide antigens:
  • ATPase class V type 10B (AT10B_HUMAN)
  • ATP10B protein (Q2YDW8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O94823

UniProtKB/Swiss-Prot:

AT10B_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 ATP10B: view

Function for ATP10B Gene

Molecular function for ATP10B 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).
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 ATP10B Gene

Phenotypes From GWAS Catalog for ATP10B Gene

Gene Ontology (GO) - Molecular Function for ATP10B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IEA --
GO:0005515 protein binding IPI 21914794
GO:0005524 ATP binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ATP10B: view
genes like me logo Genes that share phenotypes with ATP10B: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP10B

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP10B

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP10B Gene

Localization for ATP10B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP10B Gene

Cytoplasmic vesicle membrane. Multi-pass membrane protein. Endoplasmic reticulum membrane. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not TMEM30B.

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 ATP10B gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
extracellular 1
cytoskeleton 1
nucleus 1
endosome 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ATP10B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA 21914794
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ATP10B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP10B Gene

Pathways & Interactions for ATP10B Gene

genes like me logo Genes that share pathways with ATP10B: view

Pathways by source for ATP10B Gene

Interacting Proteins for ATP10B Gene

Gene Ontology (GO) - Biological Process for ATP10B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
GO:0015914 phospholipid transport IEA --
GO:0045332 phospholipid translocation IBA,NAS 21914794
genes like me logo Genes that share ontologies with ATP10B: view

No data available for SIGNOR curated interactions for ATP10B Gene

Drugs & Compounds for ATP10B Gene

(1) Drugs for ATP10B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
PE(16:0/16:0) Experimental Pharma 0

(399) Additional Compounds for ATP10B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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)
PA(16:0e/18:0)
  • 2-Octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate
  • PA(O-16:0/18:0)
genes like me logo Genes that share compounds with ATP10B: view

Transcripts for ATP10B Gene

mRNA/cDNA for ATP10B Gene

8 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP10B

Alternative Splicing Database (ASD) splice patterns (SP) for ATP10B Gene

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

ExUns: 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b
SP1: - -
SP2: - - -
SP3:
SP4:
SP5:
SP6:

Relevant External Links for ATP10B Gene

GeneLoc Exon Structure for
ATP10B

Expression for ATP10B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP10B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP10B Gene

This gene is overexpressed in Colon - Transverse (x12.0) and Brain - Spinal cord (cervical c-1) (x5.0).

Protein differential expression in normal tissues from HIPED for ATP10B Gene

This gene is overexpressed in Adipocyte (50.8) and Colon (15.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ATP10B Gene



Protein tissue co-expression partners for ATP10B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP10B

SOURCE GeneReport for Unigene cluster for ATP10B Gene:

Hs.109358

mRNA Expression by UniProt/SwissProt for ATP10B Gene:

O94823-AT10B_HUMAN
Tissue specificity: Found in brain and in low levels in testis.

Evidence on tissue expression from TISSUES for ATP10B Gene

  • Nervous system(4.5)
  • Intestine(4.3)
genes like me logo Genes that share expression patterns with ATP10B: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP10B Gene

Orthologs for ATP10B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP10B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATP10B 30 31
  • 99.22 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP10B 30 31
  • 87.53 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Atp10b 30 17 31
  • 83.73 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP10B 31
  • 83 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp10b 30
  • 82.41 (n)
Oppossum
(Monodelphis domestica)
Mammalia ATP10B 31
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ATP10B 31
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ATP10B 30 31
  • 66.69 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATP10B 31
  • 58 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp10b 30
  • 64.22 (n)
Zebrafish
(Danio rerio)
Actinopterygii ATP10B 31
  • 53 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG18419 32
  • 44 (a)
CG33298 31
  • 33 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea W09D10.2 32
  • 40 (a)
T24H7.5b 32
  • 38 (a)
T24H7.5a 32
  • 37 (a)
tat-3 31
  • 35 (a)
ManyToMany
tat-4 31
  • 28 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DNF1 31
  • 26 (a)
ManyToMany
DNF2 31
  • 25 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToMany
Species where no ortholog for ATP10B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (Ciona intestinalis)
  • 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 ATP10B Gene

ENSEMBL:
Gene Tree for ATP10B (if available)
TreeFam:
Gene Tree for ATP10B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP10B: view image

Paralogs for ATP10B Gene

(4) SIMAP similar genes for ATP10B Gene using alignment to 2 proteins:

  • AT10B_HUMAN
  • Q2YDW8_HUMAN
genes like me logo Genes that share paralogs with ATP10B: view

Variants for ATP10B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP10B Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
809830 Uncertain Significance: not provided 160,591,142(-) G/A INTRON_VARIANT
rs958912 - p.Cys217Arg

Additional dbSNP identifiers (rs#s) for ATP10B Gene

Structural Variations from Database of Genomic Variants (DGV) for ATP10B Gene

Variant ID Type Subtype PubMed ID
esv1140729 CNV deletion 17803354
esv1678762 CNV insertion 17803354
esv2251261 CNV deletion 18987734
esv24641 CNV gain 19812545
esv2671972 CNV deletion 23128226
esv2672450 CNV deletion 23128226
esv2730980 CNV deletion 23290073
esv3335764 CNV insertion 20981092
esv3607372 CNV gain 21293372
esv3607374 CNV loss 21293372
esv3607375 CNV gain 21293372
esv3607377 CNV loss 21293372
esv3607378 CNV loss 21293372
esv3607379 CNV loss 21293372
esv3607380 CNV gain 21293372
esv3607381 CNV loss 21293372
esv3607382 CNV loss 21293372
esv3607383 CNV gain 21293372
nsv1015634 CNV gain 25217958
nsv1021499 CNV gain 25217958
nsv1026980 CNV gain 25217958
nsv477559 CNV novel sequence insertion 20440878
nsv5098 CNV insertion 18451855
nsv517932 CNV gain 19592680
nsv525166 CNV loss 19592680
nsv528076 CNV loss 19592680
nsv600167 CNV loss 21841781
nsv830532 CNV loss 17160897

Variation tolerance for ATP10B Gene

Residual Variation Intolerance Score: 96.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.86; 74.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP10B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP10B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP10B Gene

Disorders for ATP10B Gene

MalaCards: The human disease database

(4) MalaCards diseases for ATP10B Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP10B

genes like me logo Genes that share disorders with ATP10B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP10B Gene

Publications for ATP10B Gene

  1. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J … Rubin EM (Nature 2004) 3 4
  4. Differential expression of putative transbilayer amphipath transporters. (PMID: 11015572) Halleck MS … Schlegel RA (Physiological genomics 1999) 2 3
  5. Systematic Analysis of Human Protein Phosphatase Interactions and Dynamics. (PMID: 28330616) Yadav L … Varjosalo M (Cell systems 2017) 3

Products for ATP10B Gene

Sources for ATP10B Gene