Aliases for ATP9A Gene

Aliases for ATP9A Gene

  • ATPase Phospholipid Transporting 9A (Putative) 2 3 5
  • Probable Phospholipid-Transporting ATPase IIA 3 4
  • ATPase, Class II, Type 9A 2 3
  • ATPIIA 3 4
  • ATPase Type IV, Phospholipid-Transporting (P-Type),(Putative) 3
  • Phospholipid-Transporting ATPase IIA 3
  • ATPase Class II Type 9A 4
  • EC 3.6.3.1 52
  • EC 7.6.2.1 4
  • KIAA0611 4
  • EC 3.6.3 52

External Ids for ATP9A Gene

Previous GeneCards Identifiers for ATP9A Gene

  • GC20M049936
  • GC20M050851
  • GC20M050898
  • GC20M049646
  • GC20M050213
  • GC20M046960

Summaries for ATP9A Gene

GeneCards Summary for ATP9A Gene

ATP9A (ATPase Phospholipid Transporting 9A (Putative)) is a Protein Coding gene. Diseases associated with ATP9A include Cholestasis, Benign Recurrent Intrahepatic, 1 and Robinow Syndrome, Autosomal Dominant 2. Among its related pathways are Cardiac conduction 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 ATP9B.

Additional gene information for ATP9A Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP9A Gene

Genomics for ATP9A Gene

GeneHancer (GH) Regulatory Elements for ATP9A Gene

Promoters and enhancers for ATP9A 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
GH20J051765 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 518.9 +0.8 838 3.3 ZNF217 CTCF NRF1 POLR2G PHF8 ZNF10 ZIC2 POLR2A ZBTB10 ZNF423 ATP9A lnc-MOCS3-6
GH20J051749 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +17.1 17110 5.8 EP300 ZNF217 TCF12 JUND FOS ZNF10 ZBTB10 CLOCK TCF7 FOXA1 ADNP PSMD10P1 ZFP64 ATP9A LOC100419570 lnc-MOCS3-6
GH20J051797 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.2 -31.8 -31759 6.2 ZNF217 CTCF TEAD4 ZIC2 SAP30 RFX1 CUX1 CHD1 TGIF2 EP300 SALL4 lnc-ATP9A-1 ADNP RNU7-6P ATP9A ZFP64 piR-43105-389
GH20J051594 Enhancer 1 ENCODE 14.4 +173.3 173293 1.1 ZNF217 CTCF MYC USF1 ZBTB11 AFF1 REST ZBTB25 USF2 TOE1 ATP9A ADNP NFATC2 piR-61101-414
GH20J051741 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.5 +24.5 24510 5.8 EP300 ZNF217 ZSCAN5C TCF12 NCOR1 ZIC2 KDM6A CLOCK TCF7 FOXA1 ATP9A SALL4 LOC100419570 lnc-MOCS3-6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP9A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP9A

Top Transcription factor binding sites by QIAGEN in the ATP9A gene promoter:
  • aMEF-2
  • HOXA9
  • HOXA9B
  • MEF-2
  • MEF-2A
  • Meis-1
  • Meis-1a
  • STAT1alpha
  • STAT1beta
  • STAT3

Genomic Locations for ATP9A Gene

Genomic Locations for ATP9A Gene
chr20:51,596,514-51,768,411
(GRCh38/hg38)
Size:
171,898 bases
Orientation:
Minus strand
chr20:50,213,053-50,385,173
(GRCh37/hg19)
Size:
172,121 bases
Orientation:
Minus strand

Genomic View for ATP9A Gene

Genes around ATP9A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP9A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP9A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP9A Gene

Proteins for ATP9A Gene

  • Protein details for ATP9A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75110-ATP9A_HUMAN
    Recommended name:
    Probable phospholipid-transporting ATPase IIA
    Protein Accession:
    O75110
    Secondary Accessions:
    • E1P5Y3
    • E1P5Y4
    • Q5TFW5
    • Q5TFW6
    • Q5TFW9
    • Q6ZMF3
    • Q9NQK6
    • Q9NQK7

    Protein attributes for ATP9A Gene

    Size:
    1047 amino acids
    Molecular mass:
    118583 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAD18775.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ATP9A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP9A Gene

Selected DME Specific Peptides for ATP9A Gene

O75110:
  • WLEEECGN
  • WMLTGDK
  • PLGFVLAVT
  • SSPDEVALV
  • ELACQCPAVVCCRC
  • ISTMQAVFSSVFYFASVPLYQGFL
  • HGRNSYKRSA
  • ESVGLTL
  • GRLLMVHGR
  • GKEGKQASLAADFSITQF
  • NDVSMIQ
  • YQASSPDE
  • SKRMGIIVRDE
  • FLRTSEK
  • EITFYMKGADV
  • EEQYQDFE
  • DKTGTLT
  • EMELLCLTGVEDQLQADVRPTLE
  • ESLSIENTLWA
  • IIPISLRVNLDMGK

Post-translational modifications for ATP9A Gene

  • Ubiquitination at Lys48, Lys765, and Lys822
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP9A Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ATP9A Gene

Gene Families for ATP9A Gene

Suggested Antigen Peptide Sequences for ATP9A Gene

GenScript: Design optimal peptide antigens:
  • ATPase class II type 9A (ATP9A_HUMAN)
  • ATP9A protein (Q2NLD0_HUMAN)
  • ATP9A protein (Q96B35_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75110

UniProtKB/Swiss-Prot:

ATP9A_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 ATP9A: view

Function for ATP9A Gene

Molecular function for ATP9A Gene

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 ATP9A Gene

Phenotypes From GWAS Catalog for ATP9A Gene

Gene Ontology (GO) - Molecular Function for ATP9A Gene

GO ID Qualified GO term Evidence PubMed IDs
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 ATP9A: view
genes like me logo Genes that share phenotypes with ATP9A: view

Animal Models for ATP9A Gene

MGI Knock Outs for ATP9A:
  • Atp9a Atp9a<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP9A

miRNA for ATP9A Gene

miRTarBase miRNAs that target ATP9A

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP9A Gene

Localization for ATP9A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP9A Gene

Early endosome membrane; Multi-pass membrane protein. Recycling endosome. Golgi apparatus, trans-Golgi network membrane. 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 ATP9A gene
Compartment Confidence
endosome 5
golgi apparatus 5
plasma membrane 4
nucleus 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for ATP9A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IBA 21873635
GO:0005769 early endosome IDA 21914794
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IDA,IBA 21914794
GO:0005886 plasma membrane IBA 21873635
genes like me logo Genes that share ontologies with ATP9A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP9A Gene

Pathways & Interactions for ATP9A Gene

genes like me logo Genes that share pathways with ATP9A: view

Pathways by source for ATP9A Gene

Gene Ontology (GO) - Biological Process for ATP9A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER IBA 21873635
GO:0006897 endocytosis IBA 21873635
GO:0015914 phospholipid transport IEA --
GO:0045332 phospholipid translocation NAS,IBA 21914794
genes like me logo Genes that share ontologies with ATP9A: view

No data available for SIGNOR curated interactions for ATP9A Gene

Drugs & Compounds for ATP9A Gene

(2) Drugs for ATP9A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(401) Additional Compounds for ATP9A 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
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 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 ATP9A: view

Transcripts for ATP9A Gene

mRNA/cDNA for ATP9A Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP9A Gene

No ASD Table

Relevant External Links for ATP9A Gene

GeneLoc Exon Structure for
ATP9A

Expression for ATP9A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP9A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATP9A Gene

This gene is overexpressed in Nasal epithelium (45.0) and Frontal cortex (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP9A Gene



Protein tissue co-expression partners for ATP9A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP9A

SOURCE GeneReport for Unigene cluster for ATP9A Gene:

Hs.649234

Evidence on tissue expression from TISSUES for ATP9A Gene

  • Nervous system(4.9)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with ATP9A: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP9A Gene

Orthologs for ATP9A Gene

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

Orthologs for ATP9A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP9A 31 30
  • 99.54 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP9A 31
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP9A 31
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP9A 31 30
  • 91.76 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ATP9A 31 30
  • 89.8 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Atp9a 17 31 30
  • 88.54 (n)
rat
(Rattus norvegicus)
Mammalia Atp9a 30
  • 88.12 (n)
chicken
(Gallus gallus)
Aves ATP9A 31 30
  • 83.04 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 99 (a)
OneToMany
-- 31
  • 87 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia atp9a 30
  • 77.99 (n)
MGC76068 30
zebrafish
(Danio rerio)
Actinopterygii ATP9A 31
  • 88 (a)
OneToOne
Dr.15835 30
fruit fly
(Drosophila melanogaster)
Insecta CG31729 31
  • 52 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tat-5 31
  • 55 (a)
ManyToMany
F02C9.3 32
  • 55 (a)
tat-6 31
  • 52 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NEO1 31
  • 43 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 54 (a)
OneToMany
Species where no ortholog for ATP9A 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 (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 ATP9A Gene

ENSEMBL:
Gene Tree for ATP9A (if available)
TreeFam:
Gene Tree for ATP9A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP9A: view image

Paralogs for ATP9A Gene

(13) SIMAP similar genes for ATP9A Gene using alignment to 3 proteins:

  • ATP9A_HUMAN
  • Q2NLD0_HUMAN
  • Q96B35_HUMAN
genes like me logo Genes that share paralogs with ATP9A: view

Variants for ATP9A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP9A Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
770302 Benign: not provided 51,604,848(-) G/A SYNONYMOUS_VARIANT
774966 Benign: not provided 51,729,952(-) C/A MISSENSE_VARIANT
777584 Benign: not provided 51,694,020(-) G/A SYNONYMOUS_VARIANT
784411 Benign: not provided 51,656,992(-) G/A SYNONYMOUS_VARIANT
785657 Benign: not provided 51,608,617(-) T/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ATP9A Gene

Structural Variations from Database of Genomic Variants (DGV) for ATP9A Gene

Variant ID Type Subtype PubMed ID
dgv703n67 CNV gain 20364138
esv1250125 CNV insertion 17803354
esv2501264 CNV insertion 19546169
esv2668584 CNV deletion 23128226
esv2751917 CNV gain 17911159
esv2758800 CNV loss 17122850
esv3395647 CNV insertion 20981092
esv3410408 CNV insertion 20981092
esv3425228 CNV insertion 20981092
esv3646065 CNV loss 21293372
esv3646067 CNV gain 21293372
esv3646068 CNV gain 21293372
esv3646069 CNV gain 21293372
esv3646070 CNV gain 21293372
nsv1114224 CNV deletion 24896259
nsv1114225 CNV deletion 24896259
nsv1123494 CNV deletion 24896259
nsv1136329 CNV deletion 24896259
nsv473453 CNV novel sequence insertion 20440878
nsv513549 CNV insertion 21212237
nsv527764 CNV loss 19592680
nsv834004 CNV loss 17160897
nsv9816 CNV gain 18304495

Variation tolerance for ATP9A Gene

Residual Variation Intolerance Score: 1.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.92; 35.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP9A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP9A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP9A Gene

Disorders for ATP9A Gene

MalaCards: The human disease database

(6) MalaCards diseases for ATP9A Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search ATP9A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ATP9A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ATP9A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP9A Gene

Publications for ATP9A Gene

  1. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 54
  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 HW (The Journal of biological chemistry 2011) 3 4 54
  3. 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 54
  4. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PMID: 18519826) Uhl GR … Lerman C (Archives of general psychiatry 2008) 3 41 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for ATP9A Gene

Sources for ATP9A Gene