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Aliases for ATP13A1 Gene
Aliases for ATP13A1 Gene
External Ids for ATP13A1 Gene
- HGNC: 24215
- Entrez Gene: 57130
- Ensembl: ENSG00000105726
- UniProtKB: Q9HD20
Previous HGNC Symbols for ATP13A1 Gene
- ATP13A
Previous GeneCards Identifiers for ATP13A1 Gene
- GC19M019620
- GC19M019758
- GC19M019318
Summaries for ATP13A1 Gene
GeneCards Summary for ATP13A1 Gene
ATP13A1 (ATPase 13A1) is a Protein Coding gene. Diseases associated with ATP13A1 include Cone-Rod Dystrophy, X-Linked, 1 and Kufor-Rakeb Syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP13A4.
UniProtKB/Swiss-Prot Summary for ATP13A1 Gene
-
Mediates manganese transport into the endoplasmic reticulum. The ATPase activity is required for cellular manganese homeostasis.
Additional gene information for ATP13A1 Gene
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP13A1 Gene
Genomics for ATP13A1 Gene
GeneHancer (GH) Regulatory Elements for ATP13A1 Gene
Promoters and enhancers for ATP13A1 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 ATP13A1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ATP13A1 gene promoter:
-
- AhR
- AML1a
- Arnt
- CUTL1
- HTF
- Ik-1
- POU2F1
- POU2F1a
- Roaz
- TGIF
Genomic Locations for ATP13A1 Gene
Genomic Locations for ATP13A1 Gene
- chr19:19,645,198-19,667,823
- (GRCh38/hg38)
- Size:
- 22,626 bases
- Orientation:
- Minus strand
- chr19:19,756,007-19,774,503
- (GRCh37/hg19)
- Size:
- 18,497 bases
- Orientation:
- Minus strand
Genomic View for ATP13A1 Gene
Genes around ATP13A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19p13.11 by HGNC
- 19p13.11 by Entrez Gene
- 19p13.11 by Ensembl
ATP13A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ATP13A1 Gene
Proteins for ATP13A1 Gene
-
Protein details for ATP13A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9HD20-AT131_HUMAN
- Recommended name:
- Manganese-transporting ATPase 13A1
- Protein Accession:
- Q9HD20
- B3KPJ2
- B3KTA7
- Q6NT90
- Q6ZMG7
- Q9H6C6
Protein attributes for ATP13A1 Gene
- Size:
- 1204 amino acids
- Molecular mass:
- 132955 Da
- Quaternary structure:
- No Data Available
- Miscellaneous:
-
- Depletion of ATP13A1 with siRNAs leads to induction of the unfolded protein response (UPR) and increased activity of glucosylceramide synthase (GlcCer).
- SequenceCaution:
-
- Sequence=AAH69211.1; Type=Frameshift; Positions=846; Evidence={ECO:0000305};
Protein Expression for ATP13A1 Gene
Selected DME Specific Peptides for ATP13A1 Gene
- Q9HD20:
-
- DKTGTLT
- TLVTTLQMFKIL
- FVFQVFCV
- TGDNPLTA
Post-translational modifications for ATP13A1 Gene
Other Protein References for ATP13A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-ATP13A1 Antibody (HPA049717) and Anti-ATP13A1 Antibody (HPA031798)
- Creative Diagnostics Anti-ATP13A1 (aa 1074-1086) polyclonal antibody and Anti-ATP13A1 (aa 134-226) polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for ATP13A1
- Novus Biologicals Antibodies for ATP13A1
-
Abcam antibodies for ATP13A1
- Invitrogen Antibodies for ATP13A1 (AFLGC-ATP13A1)
- antibodies-online: Show 4 available ATP13A1 Antibodies ranked by validation data
-
Biorbyt antibodies for ATP13A1
Protein Products
- Atlas Antibodies PrEST Antigen ATP13A1 (APrEST77714) and PrEST Antigen ATP13A1 (APrEST77713)
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ATP13A1
- Origene Custom Protein Services for ATP13A1
- Novus Biologicals proteins for ATP13A1
Domains & Families for ATP13A1 Gene
Gene Families for ATP13A1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted membrane proteins
- Predicted secreted proteins
- Transporters
Protein Domains for ATP13A1 Gene
Suggested Antigen Peptide Sequences for ATP13A1 Gene
- GenScript: Design optimal peptide antigens:
-
- Probable cation-transporting ATPase 13A1 (AT131_HUMAN)
- ATP13A1 protein (Q6NT90_HUMAN)
- cDNA FLJ23939 fis, clone HEP01940, highly similar to Cation-transporting ATPase 2 (EC 3.6.3.-) (Q6ZMG7_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9HD20UniProtKB/Swiss-Prot:
AT131_HUMAN :- Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily.
- Family:
-
- Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily.
Function for ATP13A1 Gene
Molecular function for ATP13A1 Gene
- UniProtKB/Swiss-Prot Function:
- Mediates manganese transport into the endoplasmic reticulum. The ATPase activity is required for cellular manganese homeostasis.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216;.
Enzyme Numbers (IUBMB) for ATP13A1 Gene
Phenotypes From GWAS Catalog for ATP13A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0015410 | manganese-transporting ATPase activity | TAS | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0016887 | ATPase activity | IEA | -- |
Phenotypes for ATP13A1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for ATP13A1
CRISPR Products
-
OriGene CRISPR knockouts for ATP13A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP13A1
- genomics-online: gRNA clones - Search results for available ATP13A1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for ATP13A1 - Select products 50% OFF >
- * ATP13A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * ATP13A1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP13A1
miRNA for ATP13A1 Gene
- miRTarBase miRNAs that target ATP13A1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for ATP13A1
- Browse OriGene Inhibitory RNA Products For ATP13A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP13A1
- genomics-online: shRNA clones - Search results for available ATP13A1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ATP13A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP13A1
- genomics-online: cdna clones - Search results for available ATP13A1 gene related products
- orf clones - Search results for available ATP13A1 gene related products
- Applied Biological Materials (abm): Clones for ATP13A1 - Select products 50% OFF >
- * ATP13A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * ATP13A1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for ATP13A1
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP13A1 Gene
Localization for ATP13A1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ATP13A1 Gene
- Endoplasmic reticulum membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 4 |
| plasma membrane | 2 |
| endosome | 1 |
| lysosome | 1 |
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0016020 | membrane | HDA,IEA | 19946888 |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for ATP13A1 Gene
Pathways by source for ATP13A1 Gene
3 Reactome pathways for ATP13A1 Gene
Interacting Proteins for ATP13A1 Gene
Selected Interacting proteins:
Q9HD20-AT131_HUMAN
ENSP00000349877
for ATP13A1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for ATP13A1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006812 | cation transport | IEA | -- |
| GO:0006874 | cellular calcium ion homeostasis | IBA | 21873635 |
| GO:0008150 | biological_process | ND | -- |
| GO:0034220 | ion transmembrane transport | TAS | -- |
| GO:0071421 | manganese ion transmembrane transport | IEA | -- |
No data available for SIGNOR curated interactions for ATP13A1 Gene
Drugs & Compounds for ATP13A1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 |
|
Drug Products
- Atlas Antibodies PrEST Antigen ATP13A1 (APrEST77714) and PrEST Antigen ATP13A1 (APrEST77713)
Transcripts for ATP13A1 Gene
mRNA/cDNA for ATP13A1 Gene
- (1) REFSEQ mRNAs :
- (16) Additional mRNA sequences :
- (280) Selected AceView cDNA sequences:
- (15) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000467160 2431 bps (ENST00000467160.1)
- ENST00000291503 3483 bps (ENST00000291503.9)
- ENST00000469641 4241 bps (ENST00000469641.5)
- ENST00000497556 2442 bps (ENST00000497556.5)
- ENST00000473243 4729 bps (ENST00000473243.5)
CRISPR Products
-
OriGene CRISPR knockouts for ATP13A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP13A1
- genomics-online: gRNA clones - Search results for available ATP13A1 gene related products
- Applied Biological Materials (abm): CRISPR Clones for ATP13A1 - Select products 50% OFF >
- * ATP13A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * ATP13A1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP13A1
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for ATP13A1
- Browse OriGene Inhibitory RNA Products For ATP13A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP13A1
- genomics-online: shRNA clones - Search results for available ATP13A1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ATP13A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP13A1
- genomics-online: cdna clones - Search results for available ATP13A1 gene related products
- orf clones - Search results for available ATP13A1 gene related products
- Applied Biological Materials (abm): Clones for ATP13A1 - Select products 50% OFF >
- * ATP13A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * ATP13A1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: |
| ExUns: | 20a | · | 20b | ^ | 21a | · | 21b | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b | ^ | 30a | · | 30b | ^ | 31 | ^ | 32 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | |||||||||||||||||||||||||||||
| SP5: | - | - | - | - | |||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||
| SP7: | - | ||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||||||
| SP12: | - | ||||||||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||||||||
| SP14: | |||||||||||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||||||||
| SP16: | - |
Expression for ATP13A1 Gene
This gene is overexpressed in Nasal epithelium (37.8) and Peripheral blood mononuclear cells (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP13A1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ATP13A1 Gene:
ATP13A1SOURCE GeneReport for Unigene cluster for ATP13A1 Gene:
Hs.501794Evidence on tissue expression from TISSUES for ATP13A1 Gene
- Nervous system(4.8)
- Bone marrow(4.2)
- Kidney(4.2)
- Liver(4.2)
Primer Products
-
OriGene qPCR primer pairs for ATP13A1
- genomics-online: primer clones - Search results for available ATP13A1 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP13A1 Gene
Orthologs for ATP13A1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ATP13A1 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ATP13A1 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ATP13A1 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Atp13a1 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Atp13a1 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ATP13A1 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | ATP13A1 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ATP13A1 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ATP13A1 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | atp13a1 32 |
|
||
| Str.4425 32 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.15056 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | atp13a 33 32 |
|
OneToOne | |
| wufi75c10 32 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008085 32 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG6230 33 32 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | CELE_C10C6.6 32 |
|
||
| catp-8 33 |
|
OneToOne | |||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AFR354C 32 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E22265g 32 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SPF1 35 33 32 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | PDR2 32 |
|
||
| barley (Hordeum vulgare) |
Liliopsida | Hv.12085 32 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU04898 32 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToOne | |
| Cin.15535 32 |
|
||||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | cta4 32 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.15535 32 |
|
- Species where no ortholog for ATP13A1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- 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)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for ATP13A1 Gene
- ENSEMBL:
- Gene Tree for ATP13A1 (if available)
- TreeFam:
- Gene Tree for ATP13A1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ATP13A1: view image
Paralogs for ATP13A1 Gene
Paralogs for ATP13A1 Gene
(2) SIMAP similar genes for ATP13A1 Gene using alignment to 4 proteins:
- AT131_HUMAN
- H7C3H2_HUMAN
- Q6NT90_HUMAN
- Q6ZMG7_HUMAN
Variants for ATP13A1 Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000150060 | -- | 19,650,167(-) | C/A/T | intron_variant | |
| rs1000226553 | -- | 19,662,930(-) | G/A | intron_variant | |
| rs1000528365 | -- | 19,648,010(-) | G/A | intron_variant | |
| rs1000627132 | -- | 19,646,442(-) | G/A | intron_variant | |
| rs1000640291 | -- | 19,652,884(-) | C/T | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3643853 | CNV | gain | 21293372 |
| nsv1160593 | CNV | deletion | 26073780 |
| nsv509725 | CNV | insertion | 20534489 |
| nsv952427 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
1.63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.90;
48.67% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ATP13A1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP13A1 Gene
Disorders for ATP13A1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cone-rod dystrophy, x-linked, 1 |
|
|
| kufor-rakeb syndrome |
|
|
| juvenile-onset parkinson's disease |
|
|
Search ATP13A1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ATP13A1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for ATP13A1 Gene
Publications for ATP13A1 Gene
- Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 56
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56
- Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PMID: 16335952) Liu T … Smith RD (Journal of proteome research 2005) 3 4 56
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
ExternalLinks
Products for ATP13A1 Gene
- Custom Antibody ServicesOriGene Antibodies for ATP13A1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ATP13A1
- Origene Custom Protein Services for ATP13A1
- Origene sirna, shrna, and RNAi products in human, mouse, rat for ATP13A1
- Browse OriGene Inhibitory RNA Products For ATP13A1
- OriGene qPCR primer pairs for ATP13A1
- OriGene CRISPR knockouts for ATP13A1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ATP13A1
- Sino Biological Human cDNA Clone for ATP13A1
- Browse Sino Biological Recombinant Proteins
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- Browse Sino Biological Antibodies
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- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for ATP13A1
- Novus Biologicals proteins for ATP13A1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for ATP13A1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for ATP13A1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for ATP13A1 (AFLGC-ATP13A1)
- antibodies-online: Show 4 available ATP13A1 Antibodies ranked by validation data
- antibodies-online: Search results for available ATP13A1 related products ranked by validation data
- antibodies-online: Search results for available ATP13A1 related products ranked by validation data
- Horizon Cell Lines for ATP13A1
- genomics-online: cdna clones - Search results for available ATP13A1 gene related products
- orf clones - Search results for available ATP13A1 gene related products
- genomics-online: gRNA clones - Search results for available ATP13A1 gene related products
- genomics-online: primer clones - Search results for available ATP13A1 gene related products
- genomics-online: shRNA clones - Search results for available ATP13A1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP13A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP13A1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ATP13A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP13A1
- Biorbyt antibodies for ATP13A1
Sources for ATP13A1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource