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Aliases for ATP9B Gene

Aliases for ATP9B Gene

  • ATPase Phospholipid Transporting 9B (Putative) 2 3
  • ATPase, Class II, Type 9B 2 3 5
  • EC 3.6.3.1 4 63
  • ATPIIB 3 4
  • NEO1L 3 4
  • ATPase Type IV, Phospholipid Transporting (P-Type) 3
  • Macrophage MHC Receptor 1 3
  • ATPase Class II Type 9B 4
  • HUSSY-20 3
  • EC 3.6.3 63
  • ATPASEP 3
  • HMMR1 3

External Ids for ATP9B Gene

Previous GeneCards Identifiers for ATP9B Gene

  • GC18P076619
  • GC18P076855
  • GC18P074928
  • GC18P074930
  • GC18P073459
  • GC18P076829

Summaries for ATP9B Gene

GeneCards Summary for ATP9B Gene

ATP9B (ATPase Phospholipid Transporting 9B (Putative)) is a Protein Coding gene. Among its related pathways are Ion channel transport and Cardiac conduction. GO annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP9A.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP9B Gene

Genomics for ATP9B Gene

Regulatory Elements for ATP9B Gene

Enhancers for ATP9B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ATP9B on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP9B Gene

Chromosome:
18
Start:
79,047,594 bp from pter
End:
79,378,283 bp from pter
Size:
330,690 bases
Orientation:
Plus strand

Genomic View for ATP9B Gene

Genes around ATP9B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP9B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP9B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP9B Gene

Proteins for ATP9B Gene

  • Protein details for ATP9B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43861-ATP9B_HUMAN
    Recommended name:
    Probable phospholipid-transporting ATPase IIB
    Protein Accession:
    O43861
    Secondary Accessions:
    • O60872
    • Q08AD8
    • Q08AD9

    Protein attributes for ATP9B Gene

    Size:
    1147 amino acids
    Molecular mass:
    129304 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ATP9B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP9B Gene

Proteomics data for ATP9B Gene at MOPED

Post-translational modifications for ATP9B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ATP9B Gene

Gene Families for ATP9B Gene

Graphical View of Domain Structure for InterPro Entry

O43861

UniProtKB/Swiss-Prot:

ATP9B_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 ATP9B: view

Function for ATP9B Gene

Molecular function for ATP9B Gene

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

Enzyme Numbers (IUBMB) for ATP9B Gene

Gene Ontology (GO) - Molecular Function for ATP9B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ATP9B: view

Phenotypes for ATP9B Gene

genes like me logo Genes that share phenotypes with ATP9B: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP9B

miRNA for ATP9B Gene

miRTarBase miRNAs that target ATP9B

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP9B Gene

Localization for ATP9B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP9B Gene

Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Note=Efficient exit from the endoplasmic reticulum does not require TMEM30A, nor TMEM30B.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP9B Gene COMPARTMENTS Subcellular localization image for ATP9B gene
Compartment Confidence
golgi apparatus 5
plasma membrane 5
endosome 3
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ATP9B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0048471 perinuclear region of cytoplasm IDA 21914794
genes like me logo Genes that share ontologies with ATP9B: view

Pathways & Interactions for ATP9B Gene

genes like me logo Genes that share pathways with ATP9B: view

Pathways by source for ATP9B Gene

Gene Ontology (GO) - Biological Process for ATP9B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IBA --
GO:0072600 establishment of protein localization to Golgi IMP 21914794
genes like me logo Genes that share ontologies with ATP9B: view

No data available for SIGNOR curated interactions for ATP9B Gene

Drugs & Compounds for ATP9B Gene

(1) Drugs for ATP9B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(3) Additional Compounds for ATP9B 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
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with ATP9B: view

Transcripts for ATP9B Gene

mRNA/cDNA for ATP9B Gene

(25) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(26) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ATP9B Gene

ATPase, class II, type 9B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATP9B Gene

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

Relevant External Links for ATP9B Gene

GeneLoc Exon Structure for
ATP9B
ECgene alternative splicing isoforms for
ATP9B

Expression for ATP9B Gene

mRNA expression in normal human tissues for ATP9B Gene

Protein differential expression in normal tissues from HIPED for ATP9B Gene

This gene is overexpressed in Peripheral blood mononuclear cells (53.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP9B Gene



SOURCE GeneReport for Unigene cluster for ATP9B Gene Hs.465475

genes like me logo Genes that share expression patterns with ATP9B: view

Protein tissue co-expression partners for ATP9B Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ATP9B Gene

Orthologs for ATP9B Gene

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

Orthologs for ATP9B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP9B 35
  • 85.9 (n)
  • 91.63 (a)
ATP9B 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP9B 35
  • 87.87 (n)
  • 92.32 (a)
ATP9B 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp9b 35
  • 86.74 (n)
  • 93.19 (a)
Atp9b 16
Atp9b 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP9B 35
  • 99.58 (n)
  • 99.73 (a)
ATP9B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp9b 35
  • 87.56 (n)
  • 93.03 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP9B 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP9B 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP9B 35
  • 80.66 (n)
  • 91.57 (a)
ATP9B 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP9B 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp9b 35
  • 77.81 (n)
  • 89.21 (a)
zebrafish
(Danio rerio)
Actinopterygii atp9b 35
  • 74.88 (n)
  • 86.53 (a)
atp9b 36
  • 84 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008184 35
  • 62.81 (n)
  • 66.38 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31729 35
  • 61.03 (n)
  • 64.68 (a)
CG31729 36
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tat-5 35
  • 57.99 (n)
  • 60.23 (a)
tat-5 36
  • 57 (a)
ManyToMany
tat-6 36
  • 55 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL079C 35
  • 53.5 (n)
  • 52.74 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C08393g 35
  • 53.68 (n)
  • 52.23 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NEO1 35
  • 54.34 (n)
  • 52.87 (a)
NEO1 36
  • 45 (a)
OneToMany
NEO1 38
bread mold
(Neurospora crassa)
Ascomycetes NCU03818 35
  • 53.98 (n)
  • 50.09 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC6C3.06c 35
  • 53.61 (n)
  • 50.95 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
OneToMany
Species with no ortholog for ATP9B:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)

Evolution for ATP9B Gene

ENSEMBL:
Gene Tree for ATP9B (if available)
TreeFam:
Gene Tree for ATP9B (if available)

Paralogs for ATP9B Gene

Paralogs for ATP9B Gene

genes like me logo Genes that share paralogs with ATP9B: view

Variants for ATP9B Gene

Sequence variations from dbSNP and Humsavar for ATP9B Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
VAR_047557 -
rs36034863 - 79,303,702(+) TCAGG(A/G)ACTCC nc-transcript-variant, reference, missense
rs585033 - 79,337,360(+) GGGAG(A/T)TGGAA nc-transcript-variant, reference, missense
rs34938281 - 79,110,384(+) TTGTC(A/G)AAGAA nc-transcript-variant, reference, missense
rs2628 -- 79,094,395(-) AAAAC(C/G)CTGAC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ATP9B Gene

Variant ID Type Subtype PubMed ID
esv2717497 CNV Deletion 23290073
nsv509704 CNV Insertion 20534489
esv2662015 CNV Deletion 23128226
esv24030 CNV Loss 19812545
nsv820421 CNV Deletion 20802225
esv2658682 CNV Deletion 23128226
esv1783371 CNV Deletion 17803354
nsv2379 CNV Insertion 18451855
esv2618492 CNV Deletion 19546169
esv2199105 CNV Deletion 18987734
esv2717624 CNV Deletion 23290073
nsv909989 CNV Gain 21882294
nsv509705 CNV Insertion 20534489
esv2585896 CNV Insertion 19546169
esv7963 CNV Gain 19470904
esv1190688 CNV Insertion 17803354
esv2717625 CNV Deletion 23290073
nsv131327 CNV Insertion 16902084
nsv130781 CNV Insertion 16902084
esv1713949 CNV Deletion 17803354
esv2450569 CNV Deletion 19546169
esv2717626 CNV Deletion 23290073
esv2335299 CNV Deletion 18987734
esv2717627 CNV Deletion 23290073
esv1119288 CNV Deletion 17803354
nsv428359 CNV Gain 18775914
nsv828343 CNV Loss 20364138
esv2717628 CNV Deletion 23290073
esv3212 CNV Deletion 18987735
esv25299 CNV Loss 19812545
esv6904 CNV Loss 19470904
esv2675984 CNV Deletion 23128226
nsv131643 CNV Loss 16902084
nsv131751 CNV Loss 16902084
esv23740 CNV Loss 19812545
nsv909990 CNV Gain 21882294
nsv909991 CNV Gain 21882294
nsv509706 CNV Insertion 20534489
esv2717630 CNV Deletion 23290073
esv2665946 CNV Deletion 23128226
esv23162 CNV Loss 19812545
esv2717631 CNV Deletion 23290073
esv2578938 CNV Insertion 19546169
esv1174461 CNV Insertion 17803354
esv1733392 CNV Insertion 17803354
esv2312062 CNV Deletion 18987734
esv2717632 CNV Deletion 23290073
esv2717633 CNV Deletion 23290073
esv2717634 CNV Deletion 23290073
esv1522973 CNV Deletion 17803354
esv1259444 CNV Deletion 17803354
esv2717635 CNV Deletion 23290073
esv2717636 CNV Deletion 23290073
nsv132147 CNV Loss 16902084
esv2717637 CNV Deletion 23290073
esv992301 CNV Deletion 20482838
esv1264547 CNV Deletion 17803354
nsv131338 CNV Loss 16902084
esv26605 CNV Gain+Loss 19812545
esv1008165 CNV Gain 20482838
esv1077708 CNV Insertion 17803354
esv1673763 CNV Insertion 17803354
esv1056624 CNV Insertion 17803354
esv1427355 CNV Deletion 17803354
dgv3481n71 CNV Loss 21882294
nsv131739 CNV Loss 16902084
dgv3482n71 CNV Loss 21882294
nsv909995 CNV Loss 21882294
nsv910000 CNV Loss 21882294
esv2717638 CNV Deletion 23290073
esv2717639 CNV Deletion 23290073
nsv130751 CNV Loss 16902084
esv2717641 CNV Deletion 23290073
nsv910001 CNV Gain 21882294
nsv910002 CNV Loss 21882294

Variation tolerance for ATP9B Gene

Residual Variation Intolerance Score: 1.64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.52; 85.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP9B Gene

Human Gene Mutation Database (HGMD)
ATP9B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP9B Gene

Disorders for ATP9B Gene

Relevant External Links for ATP9B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP9B

No disorders were found for ATP9B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP9B Gene

Publications for ATP9B Gene

  1. Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs. (PMID: 9548971) Halleck M.S. … Schlegel R.A. (Genome Res. 1998) 2 3 4 67
  2. Differential expression of putative transbilayer amphipath transporters. (PMID: 11015572) Halleck M.S. … Schlegel R.A. (Physiol. Genomics 1999) 2 3
  3. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PMID: 23535732) Eeles R.A. … Easton D.F. (Nat. Genet. 2013) 3
  4. Specific binding of HLA-B44 to human macrophage MHC receptor 1 on monocytes. (PMID: 22525042) Tashiro-Yamaji J. … Yoshida R. (Gene 2012) 3
  5. 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 H.W. (J. Biol. Chem. 2011) 3

Products for ATP9B Gene

Sources for ATP9B Gene

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