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Aliases for ATP9B Gene

Aliases for ATP9B Gene

  • ATPase Phospholipid Transporting 9B (Putative) 2 3 5
  • ATPase, Class II, Type 9B 2 3
  • EC 3.6.3.1 4 61
  • ATPIIB 3 4
  • NEO1L 3 4
  • ATPase Type IV, Phospholipid Transporting (P-Type) 3
  • Probable Phospholipid-Transporting ATPase IIB 3
  • Macrophage MHC Receptor 1 3
  • ATPase Class II Type 9B 4
  • HUSSY-20 3
  • EC 3.6.3 61
  • 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 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
GH18F079071 0.8 FANTOM5 ENCODE 36.3 +23.9 23852 0.6 PKNOX1 PBX2 ATP9B NFATC1 ENSG00000279416
GH18F079067 1.4 FANTOM5 ENCODE 19.2 +21.6 21612 3.0 HDGF CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF548 FOS KLF13 RBFA ATP9B ENSG00000267655 NFATC1 ENSG00000279416
GH18F079156 1.2 Ensembl ENCODE 17.2 +109.5 109498 1.9 HDGF HDAC1 PKNOX1 TBL1XR1 SIN3A YBX1 CHAMP1 EGR1 ZNF207 FOS ATP9B LOC100996274 LOC105372227
GH18F079062 1 ENCODE 16.9 +15.4 15443 1.7 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 ZNF766 ZNF207 FOS ATP9B RBFA ENSG00000267655 ENSG00000279416
GH18F079397 1.3 FANTOM5 ENCODE 9.7 +354.9 354927 9.7 HDGF PKNOX1 ZBTB40 KAT2B GLIS2 EGR1 ELK1 ETV6 CREM JUNB NFATC1 ATP9B CTDP1 ENSG00000267287 KCNG2 ENSG00000279637
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Selected DME Specific Peptides for ATP9B Gene

O43861:
  • WLEEECGN
  • WMLTGDK
  • QFVMHRGLII
  • PLGFVLAVT
  • SSPDEVALV
  • ELACQCPAVVCCRC
  • ISTMQAVFSSVFYFASVPLYQGFL
  • HGRNSYKRSA
  • ESVGLTL
  • GRLLMVHGR
  • GKEGKQASLAADFSITQF
  • KNKVGLLD
  • NDVSMIQ
  • VRTSTIPE
  • YQASSPDE
  • FLRTSEK
  • EITFYMKGADV
  • EEQYQDFE
  • DKTGTLT
  • EMELLCLTGVEDQLQADVRPTLE
  • LYEQFKFF
  • ESLSIENTLWA
  • IIPISLRVNLDMGK

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:0004012 phospholipid-translocating ATPase activity IEA,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 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
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 ATP9B gene
Compartment Confidence
plasma membrane 5
golgi apparatus 5
endosome 3
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ATP9B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IBA --
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IEA,IDA 21914794
GO:0005886 plasma membrane IBA --
GO:0016020 membrane IEA --
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:0006890 retrograde vesicle-mediated transport, Golgi to ER IBA --
GO:0006897 endocytosis IBA --
GO:0015914 phospholipid transport IEA --
GO:0045332 phospholipid translocation IEA,NAS 21914794
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

(2) Drugs for ATP9B Gene - From: HMDB

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

(2) 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
genes like me logo Genes that share compounds with ATP9B: view

Transcripts for ATP9B Gene

mRNA/cDNA for ATP9B Gene

(27) 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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ATP9B Gene



Protein tissue co-expression partners for ATP9B Gene

NURSA nuclear receptor signaling pathways regulating expression of ATP9B Gene:

ATP9B

SOURCE GeneReport for Unigene cluster for ATP9B Gene:

Hs.465475
genes like me logo Genes that share expression patterns with ATP9B: view

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
chimpanzee
(Pan troglodytes)
Mammalia ATP9B 34 35
  • 99.58 (n)
oppossum
(Monodelphis domestica)
Mammalia ATP9B 35
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP9B 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP9B 34 35
  • 87.87 (n)
rat
(Rattus norvegicus)
Mammalia Atp9b 34
  • 87.56 (n)
mouse
(Mus musculus)
Mammalia Atp9b 34 16 35
  • 86.74 (n)
cow
(Bos Taurus)
Mammalia ATP9B 34 35
  • 85.9 (n)
chicken
(Gallus gallus)
Aves ATP9B 34 35
  • 80.66 (n)
lizard
(Anolis carolinensis)
Reptilia ATP9B 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp9b 34
  • 77.81 (n)
zebrafish
(Danio rerio)
Actinopterygii atp9b 34 35
  • 74.88 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008184 34
  • 62.81 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31729 34 35
  • 61.03 (n)
worm
(Caenorhabditis elegans)
Secernentea tat-5 34 35
  • 57.99 (n)
tat-6 35
  • 55 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NEO1 34 35 37
  • 54.34 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C08393g 34
  • 53.68 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL079C 34
  • 53.5 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 57 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU03818 34
  • 53.98 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC6C3.06c 34
  • 53.61 (n)
Species where no ortholog for ATP9B was found in the sources mined by GeneCards:
  • 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

Variants for ATP9B Gene

Sequence variations from dbSNP and Humsavar for ATP9B Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs10083900 -- 79,318,872(+) TTCAG(A/G)TCCCA intron-variant
rs10083980 -- 79,290,060(+) gggtc(A/G)ggggt intron-variant
rs10438895 -- 79,178,881(+) atgag(G/T)tgggg intron-variant
rs10438898 -- 79,292,363(+) aggac(A/G)caaga intron-variant
rs10438899 -- 79,292,617(+) ACAAC(A/G)ATCTT intron-variant

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

Variant ID Type Subtype PubMed ID
esv3643298 CNV gain 21293372
esv3643299 CNV loss 21293372
esv3643301 CNV loss 21293372
esv3643302 CNV gain 21293372
esv6904 CNV loss 19470904
esv7963 CNV gain 19470904
esv992301 CNV deletion 20482838
nsv1055232 CNV loss 25217958
nsv1057354 CNV gain 25217958
nsv1065064 CNV gain 25217958
nsv1065902 CNV gain 25217958
nsv1072823 CNV deletion 25765185
nsv1075946 CNV duplication 25765185
nsv1078231 CNV insertion 25765185
nsv1078909 CNV insertion 25765185
nsv1118607 CNV duplication 24896259
nsv1119467 CNV insertion 24896259
nsv1120351 CNV tandem duplication 24896259
nsv1123201 CNV deletion 24896259
nsv1141945 CNV deletion 24896259
nsv1146663 CNV deletion 26484159
nsv1147130 CNV deletion 26484159
nsv1147433 CNV insertion 26484159
nsv1151252 CNV deletion 26484159
nsv130751 CNV deletion 16902084
nsv130781 CNV insertion 16902084
nsv131327 CNV insertion 16902084
nsv131338 CNV deletion 16902084
nsv131643 CNV deletion 16902084
nsv131739 CNV deletion 16902084
nsv131751 CNV deletion 16902084
nsv132147 CNV deletion 16902084
esv3643295 CNV gain 21293372
esv3643294 CNV loss 21293372
esv3643293 CNV loss 21293372
esv3643292 CNV loss 21293372
esv3643291 CNV loss 21293372
esv3643290 CNV loss 21293372
esv3643289 CNV gain 21293372
esv3643288 CNV loss 21293372
esv3643284 CNV gain 21293372
esv3643283 CNV loss 21293372
esv3555773 CNV deletion 23714750
esv3555772 CNV deletion 23714750
esv3555771 CNV deletion 23714750
esv3555770 CNV deletion 23714750
esv3555767 CNV deletion 23714750
esv3212 CNV loss 18987735
esv2855125 CNV duplication 24192839
esv2760476 CNV gain+loss 21179565
esv2717641 CNV deletion 23290073
esv2717639 CNV deletion 23290073
esv2717638 CNV deletion 23290073
esv2717637 CNV deletion 23290073
esv2717636 CNV deletion 23290073
esv2717635 CNV deletion 23290073
esv2717634 CNV deletion 23290073
esv2717633 CNV deletion 23290073
esv2717632 CNV deletion 23290073
esv2717631 CNV deletion 23290073
esv2717630 CNV deletion 23290073
esv2717628 CNV deletion 23290073
esv2717627 CNV deletion 23290073
esv2717626 CNV deletion 23290073
esv2717625 CNV deletion 23290073
esv2717624 CNV deletion 23290073
esv2717497 CNV deletion 23290073
esv2675984 CNV deletion 23128226
esv2665946 CNV deletion 23128226
esv2662015 CNV deletion 23128226
esv26605 CNV gain+loss 19812545
esv2658682 CNV deletion 23128226
esv2618492 CNV deletion 19546169
esv2585896 CNV insertion 19546169
esv2578938 CNV insertion 19546169
esv25299 CNV loss 19812545
esv2450569 CNV deletion 19546169
esv24030 CNV loss 19812545
esv23740 CNV loss 19812545
esv2335299 CNV deletion 18987734
esv23162 CNV loss 19812545
esv2312062 CNV deletion 18987734
esv2199105 CNV deletion 18987734
esv1783371 CNV deletion 17803354
esv1733392 CNV insertion 17803354
esv1713949 CNV deletion 17803354
esv1673763 CNV insertion 17803354
esv1522973 CNV deletion 17803354
esv1427355 CNV deletion 17803354
esv1264547 CNV deletion 17803354
esv1259444 CNV deletion 17803354
esv1190688 CNV insertion 17803354
esv1174461 CNV insertion 17803354
esv1119288 CNV deletion 17803354
esv1077708 CNV insertion 17803354
esv1056624 CNV insertion 17803354
esv1008165 CNV gain 20482838
dgv647e214 CNV loss 21293372
dgv6112n54 CNV loss 21841781
dgv6111n54 CNV loss 21841781
dgv6110n54 CNV loss 21841781
dgv6109n54 CNV loss 21841781
dgv1949e59 CNV duplication 20981092
dgv1948e59 CNV duplication 20981092
dgv1657n106 CNV tandem duplication 24896259
nsv2379 CNV insertion 18451855
nsv428359 CNV gain 18775914
nsv475637 CNV novel sequence insertion 20440878
nsv475677 CNV novel sequence insertion 20440878
nsv477225 CNV novel sequence insertion 20440878
nsv509704 CNV insertion 20534489
nsv509705 CNV insertion 20534489
nsv509706 CNV insertion 20534489
nsv577794 CNV gain 21841781
nsv577848 CNV loss 21841781
nsv577860 CNV loss 21841781
nsv577871 CNV loss 21841781
nsv577873 CNV gain 21841781
nsv577874 CNV loss 21841781
nsv577875 CNV loss 21841781
nsv577876 CNV loss 21841781
nsv820421 CNV deletion 20802225
nsv828343 CNV loss 20364138
nsv954129 CNV deletion 24416366
nsv954134 CNV deletion 24416366

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 64
  2. 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 4 64
  3. DNA sequence and analysis of human chromosome 18. (PMID: 16177791) Nusbaum C. … Lander E.S. (Nature 2005) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Characterization of 16 novel human genes showing high similarity to yeast sequences. (PMID: 11124703) Stanchi F. … Valle G. (Yeast 2001) 3 4 64

Products for ATP9B Gene

Sources for ATP9B Gene

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