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Aliases for ATP8B4 Gene

Aliases for ATP8B4 Gene

  • ATPase Phospholipid Transporting 8B4 (Putative) 2 3 5
  • P4-ATPase Flippase Complex Alpha Subunit ATP8B4 3 4
  • ATPase, Class I, Type 8B, Member 4 2 3
  • EC 3.6.3.1 4 61
  • Potential Phospholipid-Transporting ATPase IM 3
  • Probable Phospholipid-Transporting ATPase IM 3
  • ATPase Class I Type 8B Member 4 4
  • KIAA1939 4
  • EC 3.6.3 61
  • ATPIM 3

External Ids for ATP8B4 Gene

Previous GeneCards Identifiers for ATP8B4 Gene

  • GC00U990808
  • GC15M047729
  • GC15M047866
  • GC15M047937
  • GC15M050150
  • GC15M026981

Summaries for ATP8B4 Gene

Entrez Gene Summary for ATP8B4 Gene

  • This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

GeneCards Summary for ATP8B4 Gene

ATP8B4 (ATPase Phospholipid Transporting 8B4 (Putative)) is a Protein Coding gene. 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 ATP8B2.

UniProtKB/Swiss-Prot for ATP8B4 Gene

  • 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).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP8B4 Gene

Genomics for ATP8B4 Gene

Regulatory Elements for ATP8B4 Gene

Enhancers for ATP8B4 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
GH15G050133 1.9 FANTOM5 Ensembl ENCODE dbSUPER 17.9 +46.6 46644 5.5 PKNOX1 ATF1 ARNT SIN3A BRCA1 TCF12 GATA2 FOS DEK JUNB ATP8B4 GABPB1-AS1 SLC27A2 USP8 GABPB1 GC15P050155 GC15P050107
GH15G050064 1.7 FANTOM5 Ensembl ENCODE dbSUPER 19.3 +116.3 116290 4.5 HDGF PKNOX1 ATF1 SIN3A BMI1 RAD21 FOS CREM CEBPB RAD51 ATP8B4 ENSG00000259715 SLC27A2 USP8 GABPB1 GC15P050107 RNA5SP394
GH15G050116 1.6 FANTOM5 Ensembl ENCODE dbSUPER 18.6 +66.2 66216 0.4 SOX13 CTCF LEF1 ESRRA FOXA2 THRB RAD21 RARA CHAMP1 CTBP1 ATP8B4 SLC27A2 GABPB1 USP8 HDC GC15P050107 GC15P050155
GH15G050051 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.4 +129.0 128968 5.5 PKNOX1 FOXA2 ATF1 ARID4B YY1 TCF12 ZNF121 ZNF766 GATA2 ZNF207 ATP8B4 ENSG00000259715 SLC27A2 USP8 GABPB1 GC15P050107 RNA5SP394
GH15G050145 1.3 Ensembl ENCODE dbSUPER 16 +37.3 37307 0.6 SIX4 CTCF NFRKB JUN PAX8 RAD21 RFX5 TEAD3 FOSL1 CTBP1 ATP8B4 ENSG00000259715 GC15P050155 GC15P050107
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP8B4 on UCSC Golden Path with GeneCards custom track

Promoters for ATP8B4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000076460 417 801 ATF1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 ZBTB7B YY1 GLIS2 ELK1

Genomic Location for ATP8B4 Gene

Chromosome:
15
Start:
49,858,238 bp from pter
End:
50,182,817 bp from pter
Size:
324,580 bases
Orientation:
Minus strand

Genomic View for ATP8B4 Gene

Genes around ATP8B4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP8B4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP8B4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP8B4 Gene

Proteins for ATP8B4 Gene

  • Protein details for ATP8B4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TF62-AT8B4_HUMAN
    Recommended name:
    Probable phospholipid-transporting ATPase IM
    Protein Accession:
    Q8TF62
    Secondary Accessions:
    • Q9H727

    Protein attributes for ATP8B4 Gene

    Size:
    1192 amino acids
    Molecular mass:
    135868 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 subunits TMEM30A and TMEM30B.
    SequenceCaution:
    • Sequence=BAB15072.1; Type=Frameshift; Positions=997; Evidence={ECO:0000305}; Sequence=BAB85525.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin inserted in the coding sequence.; Evidence={ECO:0000305};

neXtProt entry for ATP8B4 Gene

Selected DME Specific Peptides for ATP8B4 Gene

Q8TF62:
  • LDTSYWTF
  • DTKLMQNS
  • SPDEGALV
  • TLAIGDG
  • ARTTTLNE
  • IGDGANDVSMI
  • FSDKTGTLT
  • WVLTGDK
  • DGETNLK
  • LTGDKQETA
  • DKTGTLT
  • LLGATAVED
  • TAVEDKLQ
  • LCHTVMSEE
  • PNNKLDKF
  • SDYSFAQFRYLQRLLLVHGRWSY
  • LAIGDGA
  • VGDIIKLENN
  • PISLYVS

Post-translational modifications for ATP8B4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ATP8B4 Gene

Gene Families for ATP8B4 Gene

Suggested Antigen Peptide Sequences for ATP8B4 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TF62

UniProtKB/Swiss-Prot:

AT8B4_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 ATP8B4: view

Function for ATP8B4 Gene

Molecular function for ATP8B4 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).
UniProtKB/Swiss-Prot Function:
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).

Enzyme Numbers (IUBMB) for ATP8B4 Gene

Gene Ontology (GO) - Molecular Function for ATP8B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004012 phospholipid-translocating ATPase activity IBA --
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 ATP8B4: view
genes like me logo Genes that share phenotypes with ATP8B4: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP8B4

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP8B4 Gene

Localization for ATP8B4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP8B4 Gene

Cell membrane; Multi-pass membrane protein. Golgi apparatus.

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 ATP8B4 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 5
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for ATP8B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA,IEA 20947505
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0035579 specific granule membrane TAS --
genes like me logo Genes that share ontologies with ATP8B4: view

Pathways & Interactions for ATP8B4 Gene

genes like me logo Genes that share pathways with ATP8B4: view

Pathways by source for ATP8B4 Gene

Gene Ontology (GO) - Biological Process for ATP8B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0007030 Golgi organization IBA --
GO:0015914 phospholipid transport IEA --
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with ATP8B4: view

No data available for SIGNOR curated interactions for ATP8B4 Gene

Drugs & Compounds for ATP8B4 Gene

(2) Drugs for ATP8B4 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 ATP8B4 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 ATP8B4: view

Transcripts for ATP8B4 Gene

Unigene Clusters for ATP8B4 Gene

ATPase, class I, type 8B, member 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP8B4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^
SP1: -
SP2:
SP3: -
SP4:

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

Relevant External Links for ATP8B4 Gene

GeneLoc Exon Structure for
ATP8B4
ECgene alternative splicing isoforms for
ATP8B4

Expression for ATP8B4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP8B4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP8B4 Gene

This gene is overexpressed in Fallopian Tube (x4.5) and Whole Blood (x4.4).

NURSA nuclear receptor signaling pathways regulating expression of ATP8B4 Gene:

ATP8B4

SOURCE GeneReport for Unigene cluster for ATP8B4 Gene:

Hs.511311

mRNA Expression by UniProt/SwissProt for ATP8B4 Gene:

Q8TF62-AT8B4_HUMAN
Tissue specificity: Ubiquitously expressed at moderate levels.

Evidence on tissue expression from TISSUES for ATP8B4 Gene

  • Intestine(4.2)
  • Heart(4.1)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with ATP8B4: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP8B4 Gene

Orthologs for ATP8B4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP8B4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP8B4 34 35
  • 99.58 (n)
cow
(Bos Taurus)
Mammalia ATP8B4 35
  • 93 (a)
OneToOne
LOC100137953 34
  • 91.33 (n)
dog
(Canis familiaris)
Mammalia ATP8B4 34 35
  • 91.32 (n)
rat
(Rattus norvegicus)
Mammalia Atp8b4 34
  • 85.96 (n)
mouse
(Mus musculus)
Mammalia Atp8b4 34 16 35
  • 85.74 (n)
oppossum
(Monodelphis domestica)
Mammalia ATP8B4 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP8B4 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 64 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 65 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia atp8b4 34
  • 73.79 (n)
Str.1062 34
zebrafish
(Danio rerio)
Actinopterygii ATP8B4 35
  • 70 (a)
OneToOne
si:ch211-167m1.4 34
  • 67.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14741 35
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tat-2 35
  • 47 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DNF1 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G72700 34
  • 50.56 (n)
rice
(Oryza sativa)
Liliopsida Os.8958 34
Species where no ortholog for ATP8B4 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP8B4 Gene

ENSEMBL:
Gene Tree for ATP8B4 (if available)
TreeFam:
Gene Tree for ATP8B4 (if available)

Paralogs for ATP8B4 Gene

Pseudogenes.org Pseudogenes for ATP8B4 Gene

genes like me logo Genes that share paralogs with ATP8B4: view

Variants for ATP8B4 Gene

Sequence variations from dbSNP and Humsavar for ATP8B4 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000002345 -- 49,906,434(+) TCTAG(C/T)CAACC intron-variant
rs1000003259 -- 49,949,169(+) TCCAT(A/G)TGAAA intron-variant
rs1000022730 -- 50,073,209(+) TAGGT(A/G)TTTCT intron-variant
rs1000026309 -- 49,863,985(+) TGCTC(C/T)CTTAG intron-variant
rs1000028187 -- 50,076,202(+) ACAGA(A/C)ACCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP8B4 Gene

Variant ID Type Subtype PubMed ID
dgv740e212 CNV loss 25503493
esv2196763 CNV deletion 18987734
esv2749673 CNV deletion 23290073
esv3581697 CNV loss 25503493
esv3636435 CNV loss 21293372
esv3636436 CNV loss 21293372
esv3636437 CNV loss 21293372
esv3892691 CNV loss 25118596
nsv1070697 CNV deletion 25765185
nsv1122964 CNV deletion 24896259
nsv1127431 CNV deletion 24896259
nsv1529 CNV insertion 18451855
nsv1530 CNV deletion 18451855
nsv457133 CNV loss 19166990
nsv517014 CNV loss 19592680
nsv529006 CNV gain 19592680
nsv569394 CNV loss 21841781
nsv569395 CNV loss 21841781
nsv833003 CNV loss 17160897
nsv952623 CNV duplication 24416366

Variation tolerance for ATP8B4 Gene

Residual Variation Intolerance Score: 74.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.37; 90.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP8B4 Gene

Human Gene Mutation Database (HGMD)
ATP8B4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP8B4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP8B4 Gene

Disorders for ATP8B4 Gene

Relevant External Links for ATP8B4

Genetic Association Database (GAD)
ATP8B4
Human Genome Epidemiology (HuGE) Navigator
ATP8B4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP8B4

No disorders were found for ATP8B4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP8B4 Gene

Publications for ATP8B4 Gene

  1. 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
  2. Heteromeric interactions required for abundance and subcellular localization of human CDC50 proteins and class 1 P4-ATPases. (PMID: 20947505) van der Velden L.M. … van de Graaf S.F. (J. Biol. Chem. 2010) 3 4 64
  3. Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. (PMID: 17998437) Li H. … Roses A.D. (Arch. Neurol. 2008) 3 46 64
  4. Analysis of the DNA sequence and duplication history of human chromosome 15. (PMID: 16572171) Zody M.C. … Nusbaum C. (Nature 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for ATP8B4 Gene

Sources for ATP8B4 Gene

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