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Aliases for ATP8B3 Gene

Aliases for ATP8B3 Gene

  • ATPase Phospholipid Transporting 8B3 2 3 5
  • ATPase, Aminophospholipid Transporter, Class I, Type 8B, Member 3 2 3
  • Potential Phospholipid-Transporting ATPase IK 2 3
  • Aminophospholipid Translocase ATP8B3 2 3
  • ATPase, Class I, Type 8B, Member 3 2 3
  • EC 3.6.3.1 4 56
  • Probable Phospholipid-Transporting ATPase IK 3
  • Phospholipid-Transporting ATPase IK 3
  • ATPase Class I Type 8B Member 3 4
  • FOS37502_2 4
  • EC 3.6.3 56
  • ATPIK 3
  • ATP1K 4

External Ids for ATP8B3 Gene

Previous GeneCards Identifiers for ATP8B3 Gene

  • GC19U990228
  • GC19M001722
  • GC19M001733
  • GC19M001553
  • GC19M001783
  • GC19M001785
  • GC19M001786
  • GC19M001787
  • GC19M001788
  • GC19M001789
  • GC19M001790
  • GC19M001791

Summaries for ATP8B3 Gene

Entrez Gene Summary for ATP8B3 Gene

  • The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to the other. This gene encodes member 3 of phospholipid-transporting ATPase 8B; other members of this protein family are located on chromosomes 1, 15 and 18. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

GeneCards Summary for ATP8B3 Gene

ATP8B3 (ATPase Phospholipid Transporting 8B3) is a Protein Coding gene. Among its related pathways are Ion channel transport and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include nucleotide binding and cation-transporting ATPase activity.

UniProtKB/Swiss-Prot for ATP8B3 Gene

  • P4-ATPase flippase 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. May be responsible for the maintenance of asymmetric distribution of phosphatidylserine (PS) in spermatozoa membranes. Involved in acrosome reactions and binding of spermatozoa to zona pellucida.

Gene Wiki entry for ATP8B3 Gene

Additional gene information for ATP8B3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP8B3 Gene

Genomics for ATP8B3 Gene

GeneHancer (GH) Regulatory Elements for ATP8B3 Gene

Promoters and enhancers for ATP8B3 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
GH19I001810 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 565.3 +0.1 57 3 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 POLR2B ZNF207 ZNF143 ATP8B3 MUM1 CIRBP SF3A2 MEX3D GC19M001802 PIR48451
GH19I001236 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 32.9 +555.4 555417 41.1 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 CIRBP C19orf24 MIDN CBARP ATP5F1D SF3A2 TCF3 TMEM259 LOC100288123 PTBP1
GH19I001846 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 25.1 -35.6 -35569 3.7 ARNT ARID4B SIN3A ZNF2 YY1 POLR2B ZNF213 ZNF207 ZNF143 ZHX2 REXO1 ATP8B3 CFD ARHGAP45 TCF3 MIDN CNN2 LOC100288123
GH19I001603 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 22 +206.9 206859 3.3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ENSG00000267059 UQCR11 TCF3 ATP8B3 SF3A2 LOC100288123 DAZAP1 TMEM259 DOT1L PTBP1
GH19I001647 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 21.5 +161.8 161820 6.6 CLOCK ZFP64 FEZF1 DMAP1 YY1 E2F8 ZNF143 SP3 NFYC MEF2D TCF3 SF3A2 LOC100288123 DAZAP1 DOT1L TMEM259 STK11 CIRBP AP3D1 MUM1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATP8B3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATP8B3 gene promoter:

Genomic Locations for ATP8B3 Gene

Genomic Locations for ATP8B3 Gene
chr19:1,782,070-1,812,276
(GRCh38/hg38)
Size:
30,207 bases
Orientation:
Minus strand
chr19:1,782,074-1,812,275
(GRCh37/hg19)

Genomic View for ATP8B3 Gene

Genes around ATP8B3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP8B3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP8B3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP8B3 Gene

Proteins for ATP8B3 Gene

  • Protein details for ATP8B3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60423-AT8B3_HUMAN
    Recommended name:
    Phospholipid-transporting ATPase IK
    Protein Accession:
    O60423
    Secondary Accessions:
    • Q7Z485
    • Q8IVB8
    • Q8N4Y8
    • Q96M22

    Protein attributes for ATP8B3 Gene

    Size:
    1300 amino acids
    Molecular mass:
    146752 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Association with flippase complex beta subunits TMEM30A and TMEM30A has not been detected, neither did their coexpression change the localization in ER.
    SequenceCaution:
    • Sequence=AAC17601.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAB71492.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ATP8B3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP8B3 Gene

Selected DME Specific Peptides for ATP8B3 Gene

O60423:
  • SPDEGALV
  • TLAIGDG
  • YQAASPDE
  • CKFLRYFFYK
  • AVICCRVTPKQKA
  • LAIGDGA
  • FSDKTGTLT
  • WVLTGDK
  • DGETNLK
  • LTGDKQETA
  • DKTGTLT

Post-translational modifications for ATP8B3 Gene

  • Ubiquitination at posLast=108108, Lys296, posLast=326326, posLast=496496, and Lys509
  • Modification sites at PhosphoSitePlus

Domains & Families for ATP8B3 Gene

Gene Families for ATP8B3 Gene

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

Suggested Antigen Peptide Sequences for ATP8B3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60423

UniProtKB/Swiss-Prot:

AT8B3_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 ATP8B3: view

Function for ATP8B3 Gene

Molecular function for ATP8B3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).
UniProtKB/Swiss-Prot Function:
P4-ATPase flippase 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. May be responsible for the maintenance of asymmetric distribution of phosphatidylserine (PS) in spermatozoa membranes. Involved in acrosome reactions and binding of spermatozoa to zona pellucida.

Enzyme Numbers (IUBMB) for ATP8B3 Gene

Phenotypes From GWAS Catalog for ATP8B3 Gene

Gene Ontology (GO) - Molecular Function for ATP8B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004012 phospholipid-translocating ATPase activity IBA,IEA --
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ATP8B3: view
genes like me logo Genes that share phenotypes with ATP8B3: view

Animal Models for ATP8B3 Gene

MGI Knock Outs for ATP8B3:

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP8B3

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP8B3 Gene

Localization for ATP8B3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP8B3 Gene

Cytoplasmic vesicle, secretory vesicle, acrosome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein.

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 ATP8B3 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
golgi apparatus 4
mitochondrion 2
nucleus 2

Gene Ontology (GO) - Cellular Components for ATP8B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0002080 acrosomal membrane IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IBA --
genes like me logo Genes that share ontologies with ATP8B3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP8B3 Gene

Pathways & Interactions for ATP8B3 Gene

genes like me logo Genes that share pathways with ATP8B3: view

Pathways by source for ATP8B3 Gene

Interacting Proteins for ATP8B3 Gene

Gene Ontology (GO) - Biological Process for ATP8B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0007030 Golgi organization IBA --
GO:0007339 binding of sperm to zona pellucida IEA --
GO:0015914 phospholipid transport IEA --
genes like me logo Genes that share ontologies with ATP8B3: view

No data available for SIGNOR curated interactions for ATP8B3 Gene

Drugs & Compounds for ATP8B3 Gene

(2) Drugs for ATP8B3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
ATP Investigational Nutra Agonist 0

(401) Additional Compounds for ATP8B3 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 ATP8B3: view

Transcripts for ATP8B3 Gene

Unigene Clusters for ATP8B3 Gene

ATPase, aminophospholipid transporter, class I, type 8B, member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP8B3 Gene

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

Relevant External Links for ATP8B3 Gene

GeneLoc Exon Structure for
ATP8B3
ECgene alternative splicing isoforms for
ATP8B3

Expression for ATP8B3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP8B3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP8B3 Gene

This gene is overexpressed in Testis (x24.5) and Spleen (x4.4).

Protein differential expression in normal tissues from HIPED for ATP8B3 Gene

This gene is overexpressed in Retina (14.9), Heart (9.3), and Rectum (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ATP8B3 Gene



NURSA nuclear receptor signaling pathways regulating expression of ATP8B3 Gene:

ATP8B3

SOURCE GeneReport for Unigene cluster for ATP8B3 Gene:

Hs.306212

mRNA Expression by UniProt/SwissProt for ATP8B3 Gene:

O60423-AT8B3_HUMAN
Tissue specificity: Isoform 3 was only detected in testis.

Evidence on tissue expression from TISSUES for ATP8B3 Gene

  • Eye(4)
genes like me logo Genes that share expression patterns with ATP8B3: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP8B3 Gene

Orthologs for ATP8B3 Gene

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

Orthologs for ATP8B3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP8B3 33
  • 95.62 (n)
dog
(Canis familiaris)
Mammalia ATP8B3 33 34
  • 79.18 (n)
rat
(Rattus norvegicus)
Mammalia Atp8b3 33
  • 75.92 (n)
mouse
(Mus musculus)
Mammalia Atp8b3 33 16 34
  • 74.61 (n)
cow
(Bos Taurus)
Mammalia ATP8B3 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP8B3 34
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP8B3 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP8B3 34 33
  • 66.44 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp8b3 33
  • 56.29 (n)
zebrafish
(Danio rerio)
Actinopterygii atp8b3 34
  • 42 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DRS2 34
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
ManyToMany
Species where no ortholog for ATP8B3 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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 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 ATP8B3 Gene

ENSEMBL:
Gene Tree for ATP8B3 (if available)
TreeFam:
Gene Tree for ATP8B3 (if available)

Paralogs for ATP8B3 Gene

genes like me logo Genes that share paralogs with ATP8B3: view

No data available for Paralogs for ATP8B3 Gene

Variants for ATP8B3 Gene

Sequence variations from dbSNP and Humsavar for ATP8B3 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs568761860 likely-pathogenic, not provided 1,802,541(-) G/A/T coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, stop_gained, synonymous_variant
rs202073926 uncertain-significance, not provided 1,792,020(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000051791 -- 1,810,988(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000093288 -- 1,798,573(-) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000176746 -- 1,788,637(-) G/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ATP8B3 Gene

Variant ID Type Subtype PubMed ID
esv2717852 CNV deletion 23290073
esv32942 CNV gain+loss 17666407
esv3643408 CNV loss 21293372
esv3643409 CNV loss 21293372
esv3643410 CNV loss 21293372
esv3893156 CNV loss 25118596
nsv1071490 CNV deletion 25765185
nsv1112736 CNV deletion 24896259
nsv1126502 CNV deletion 24896259
nsv1160560 CNV deletion 26073780
nsv470107 CNV loss 18288195
nsv521005 CNV loss 19592680
nsv578337 CNV gain 21841781
nsv953942 CNV deletion 24416366

Variation tolerance for ATP8B3 Gene

Residual Variation Intolerance Score: 85.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.83; 94.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP8B3 Gene

Human Gene Mutation Database (HGMD)
ATP8B3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP8B3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP8B3 Gene

Disorders for ATP8B3 Gene

Additional Disease Information for ATP8B3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ATP8B3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP8B3 Gene

Publications for ATP8B3 Gene

  1. FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body. (PMID: 12880872) Harris MJ … Arias IM (Biochimica et biophysica acta 2003) 3 4 22 58
  2. Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. (PMID: 19416921) Scott LJ … Boehnke M (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Differential expression of putative transbilayer amphipath transporters. (PMID: 11015572) Halleck MS … Schlegel RA (Physiological genomics 1999) 2 3 58
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3 58

Products for ATP8B3 Gene

Sources for ATP8B3 Gene

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