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] See more...

Aliases for ATP8B4 Gene

Aliases for ATP8B4 Gene

  • ATPase Phospholipid Transporting 8B4 (Putative) 2 3 5
  • ATPase, Class I, Type 8B, Member 4 2 2 3
  • P4-ATPase Flippase Complex Alpha Subunit ATP8B4 3 4
  • Probable Phospholipid-Transporting ATPase IM 3 4
  • KIAA1939 2 4
  • ATPIM 2 3
  • Potential Phospholipid-Transporting ATPase IM 3
  • ATPase Class I Type 8B Member 4 4
  • EC 3.6.3.1 51
  • EC 7.6.2.1 4
  • EC 3.6.3 51
  • ATP8B4 5

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. Diseases associated with ATP8B4 include Cholestasis, Benign Recurrent Intrahepatic, 1 and Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1. Among its related pathways are Innate Immune System and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for ATP8B4 Gene

Genomics for ATP8B4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP8B4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP8B4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP8B4

Top Transcription factor binding sites by QIAGEN in the ATP8B4 gene promoter:
  • AML1a
  • GATA-1
  • GATA-2
  • GATA-3
  • HEN1
  • HOXA9
  • HOXA9B
  • Ik-1
  • Meis-1
  • Meis-1b

Genomic Locations for ATP8B4 Gene

Genomic Locations for ATP8B4 Gene
chr15:49,858,238-50,182,817
(GRCh38/hg38)
Size:
324,580 bases
Orientation:
Minus strand
chr15:50,150,435-50,475,014
(GRCh37/hg19)
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; 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

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

Suggested Antigen Peptide Sequences for ATP8B4 Gene

GenScript: Design optimal peptide antigens:
  • ATPase class I type 8B member 4 (AT8B4_HUMAN)
  • ATP8B4 protein (Q6PG43_HUMAN)

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 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).
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 ATP8B4 Gene

Phenotypes From GWAS Catalog for ATP8B4 Gene

Gene Ontology (GO) - Molecular Function for ATP8B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IEA --
GO:0005524 ATP binding 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP8B4

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
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATP8B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IBA,IDA 20947505
GO:0005802 trans-Golgi network IBA 21873635
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
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:0006869 lipid transport IEA --
GO:0007030 Golgi organization IBA 21873635
GO:0015914 phospholipid transport IEA --
GO:0043312 neutrophil degranulation TAS --
GO:0045332 phospholipid translocation IBA 21873635
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

(3) Drugs for ATP8B4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
PE(16:0/16:0) Experimental Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(401) Additional Compounds for ATP8B4 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
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 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 ATP8B4: view

Transcripts for ATP8B4 Gene

mRNA/cDNA for ATP8B4 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
19 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 ATP8B4

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

Expression for ATP8B4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

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

  • Nervous system(4.3)
  • Intestine(4.2)
  • Heart(4.2)
genes like me logo Genes that share expression patterns with ATP8B4: view

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 30 31
  • 99.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP8B4 31
  • 93 (a)
OneToOne
LOC100137953 30
  • 91.33 (n)
Dog
(Canis familiaris)
Mammalia ATP8B4 30 31
  • 91.32 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp8b4 30
  • 85.96 (n)
Mouse
(Mus musculus)
Mammalia Atp8b4 30 17 31
  • 85.74 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATP8B4 31
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ATP8B4 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 64 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 65 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp8b4 30
  • 73.79 (n)
Str.1062 30
Zebrafish
(Danio rerio)
Actinopterygii ATP8B4 31
  • 70 (a)
OneToOne
si:ch211-167m1.4 30
  • 67.88 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG14741 31
  • 37 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea tat-2 31
  • 47 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DNF1 33
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G72700 30
  • 50.56 (n)
Rice
(Oryza sativa)
Liliopsida Os.8958 30
Species where no ortholog for ATP8B4 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 Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ATP8B4: view image

Paralogs for ATP8B4 Gene

(17) SIMAP similar genes for ATP8B4 Gene using alignment to 9 proteins:

  • AT8B4_HUMAN
  • H0YK53_HUMAN
  • H0YL60_HUMAN
  • H0YLC1_HUMAN
  • H0YLJ1_HUMAN
  • H0YM66_HUMAN
  • H0YMB5_HUMAN
  • H0YMP8_HUMAN
  • Q6PG43_HUMAN

Pseudogenes.org Pseudogenes for ATP8B4 Gene

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

Variants for ATP8B4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP8B4 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
732385 Benign: not provided 49,934,144(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
782590 Benign: not provided 49,860,278(-) A/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs16962987 - p.Val1190Gly
rs16962989 - p.Asn1165Lys
rs16963151 - p.Asn225Ser

Additional dbSNP identifiers (rs#s) for ATP8B4 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(3) MalaCards diseases for ATP8B4 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP8B4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ATP8B4: view

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

Publications for ATP8B4 Gene

  1. Heteromeric interactions required for abundance and subcellular localization of human CDC50 proteins and class 1 P4-ATPases. (PMID: 20947505) van der Velden LM … van de Graaf SF (The Journal of biological chemistry 2010) 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. (PMID: 17998437) Li H … Roses AD (Archives of neurology 2008) 3 41
  4. Analysis of the DNA sequence and duplication history of human chromosome 15. (PMID: 16572171) Zody MC … Nusbaum C (Nature 2006) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for ATP8B4 Gene

Sources for ATP8B4 Gene