Aliases for ATP6V1E1 Gene
Aliases for ATP6V1E1 Gene
External Ids for ATP6V1E1 Gene
- HGNC: 857
- Entrez Gene: 529
- Ensembl: ENSG00000131100
- OMIM: 108746
- UniProtKB: P36543
Previous HGNC Symbols for ATP6V1E1 Gene
- ATP6E
- ATP6V1E
Previous GeneCards Identifiers for ATP6V1E1 Gene
- GC22M015015
- GC22M016449
- GC22M018074
- GC22M001890
Summaries for ATP6V1E1 Gene
-
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]
GeneCards Summary for ATP6V1E1 Gene
ATP6V1E1 (ATPase H+ Transporting V1 Subunit E1) is a Protein Coding gene. Diseases associated with ATP6V1E1 include Cutis Laxa, Autosomal Recessive, Type Iic and Autosomal Recessive Cutis Laxa Type 2, Classic Type. Among its related pathways are Innate Immune System and Rheumatoid arthritis. Gene Ontology (GO) annotations related to this gene include ATPase binding and hydrogen-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V1E2.
UniProtKB/Swiss-Prot for ATP6V1E1 Gene
-
Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.
-
H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.
Additional gene information for ATP6V1E1 Gene
- Monarch Initiative
- Search for ATP6V1E1 at DataMed
- Search for ATP6V1E1 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V1E1 Gene
Genomics for ATP6V1E1 Gene
GeneHancer (GH) Regulatory Elements for ATP6V1E1 Gene
Promoters and enhancers for ATP6V1E1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ATP6V1E1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for ATP6V1E1 Gene
Genomic Locations for ATP6V1E1 Gene
- chr22:17,592,136-17,628,822
- (GRCh38/hg38)
- Size:
- 36,687 bases
- Orientation:
- Minus strand
- chr22:18,074,902-18,111,588
- (GRCh37/hg19)
Genomic View for ATP6V1E1 Gene
Genes around ATP6V1E1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q11.21 by Ensembl
- 22q11.21 by Entrez Gene
- 22q11.21 by HGNC
ATP6V1E1 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 ATP6V1E1 Gene
Proteins for ATP6V1E1 Gene
-
Protein details for ATP6V1E1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P36543-VATE1_HUMAN
- Recommended name:
- V-type proton ATPase subunit E 1
- Protein Accession:
- P36543
- A8MUE4
- A8MUN4
Protein attributes for ATP6V1E1 Gene
- Size:
- 226 amino acids
- Molecular mass:
- 26145 Da
- Quaternary structure:
-
- V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components: a, c, c, c and d). Interacts with RABL2/RABL2A; binds preferentially to GTP-bound RABL2 (By similarity). Interacts with ALDOC. Interacts with RAB11B.
Protein Expression for ATP6V1E1 Gene
Post-translational modifications for ATP6V1E1 Gene
Other Protein References for ATP6V1E1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ATP6V1E1
-
Abcam antibodies for ATP6V1E1
- Invitrogen Antibodies for ATP6V1E1
- GeneTex ATP6V1E1 antibody for ATP6V1E1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ATP6V1E1
Protein Products
-
OriGene Purified Proteins for ATP6V1E1
- Search Origene for MassSpec and Protein Over-expression Lysates for ATP6V1E1
- Origene Custom Protein Services for ATP6V1E1
- GeneTex Proteins for ATP6V1E1
-
ProSci Proteins for ATP6V1E1
-
Abcam proteins for ATP6V1E1
Assay Products
No data available for DME Specific Peptides for ATP6V1E1 Gene
Domains & Families for ATP6V1E1 Gene
Gene Families for ATP6V1E1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
- Transporters
Protein Domains for ATP6V1E1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ATP6V1E1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ51833, highly similar to Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 (ATP6V1E1), transcript variant 2, mRNA (A8MUE4_HUMAN)
- cDNA, FLJ78840, highly similar to Homo sapiens ATPase, H+ transporting, lysosomal 31 kDa, V1 subunit 0E1 (ATP6V1E1) (A8MUN4_HUMAN)
- cDNA, FLJ92725, Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit Eisoform 1 (ATP6V1E1), mRNA (Q53Y06_HUMAN)
- Vacuolar proton pump subunit E 1 (VATE1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P36543- Family:
-
- Belongs to the V-ATPase E subunit family.
Function for ATP6V1E1 Gene
Molecular function for ATP6V1E1 Gene
- UniProtKB/Swiss-Prot Function:
- Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.
Phenotypes From GWAS Catalog for ATP6V1E1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 11399750 |
| GO:0008553 | hydrogen-exporting ATPase activity, phosphorylative mechanism | IEA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0046961 | proton-transporting ATPase activity, rotational mechanism | IEA | -- |
| GO:0051117 | ATPase binding | IPI | 20717956 |
Phenotypes for ATP6V1E1 Gene
- GenomeRNAi human phenotypes for ATP6V1E1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ATP6V1E1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for ATP6V1E1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ATP6V1E1 gene
- Search ViGene Biosciences for ATP6V1E1
CRISPR Products
-
OriGene CRISPR knockouts for ATP6V1E1
- genomics-online: gRNA clones - Search results for available ATP6V1E1 gene related products
- Applied Biological Materials CRISPR for ATP6V1E1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP6V1E1
- GenScript: Design CRISPR guide RNA sequences for ATP6V1E1
miRNA for ATP6V1E1 Gene
- miRTarBase miRNAs that target ATP6V1E1
-
- hsa-mir-1-3p (MIRT023958)
- hsa-mir-16-5p (MIRT031879)
- hsa-mir-423-5p (MIRT038081)
- hsa-mir-18a-3p (MIRT040783)
- hsa-mir-221-3p (MIRT046956)
- hsa-mir-1236-5p (MIRT761483)
- hsa-mir-200b-3p (MIRT763660)
- hsa-mir-200c-3p (MIRT763669)
- hsa-mir-3125 (MIRT764836)
- hsa-mir-3184-5p (MIRT765275)
- hsa-mir-34a-5p (MIRT765761)
- hsa-mir-34c-5p (MIRT765822)
- hsa-mir-3910 (MIRT767587)
- hsa-mir-3916 (MIRT767641)
- hsa-mir-3942-5p (MIRT767865)
- hsa-mir-429 (MIRT768483)
- hsa-mir-4423-3p (MIRT768850)
- hsa-mir-449a (MIRT769770)
- hsa-mir-449b-5p (MIRT769788)
- hsa-mir-4688 (MIRT771067)
- hsa-mir-4703-5p (MIRT771347)
- hsa-mir-4708-3p (MIRT771368)
- hsa-mir-4709-3p (MIRT771378)
- hsa-mir-4765 (MIRT772034)
- hsa-mir-4797-5p (MIRT772507)
- hsa-mir-486-3p (MIRT772669)
- hsa-mir-542-3p (MIRT773954)
- hsa-mir-548v (MIRT774547)
- hsa-mir-6501-3p (MIRT776494)
- hsa-mir-6743-5p (MIRT778174)
- hsa-mir-6809-5p (MIRT779747)
- hsa-mir-6825-3p (MIRT779885)
- hsa-mir-6859-5p (MIRT780527)
miRNA Products
- Search ViGene Biosciences for ATP6V1E1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for ATP6V1E1
- Browse OriGene Inhibitory RNA Products For ATP6V1E1
- genomics-online: shRNA clones - Search results for available ATP6V1E1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ATP6V1E1 gene
Clone Products
-
OriGene ORF clones in human for ATP6V1E1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ATP6V1E1
- VectorBuilder custom plasmid, inducible vectors for ATP6V1E1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ATP6V1E1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available ATP6V1E1 gene related products
- orf clones - Search results for available ATP6V1E1 gene related products
- Applied Biological Materials Clones for ATP6V1E1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for ATP6V1E1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ATP6V1E1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ATP6V1E1 gene
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP6V1E1 Gene
Localization for ATP6V1E1 Gene
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytosol | 5 |
| lysosome | 5 |
| endosome | 5 |
| plasma membrane | 4 |
| nucleus | 3 |
| mitochondrion | 2 |
| peroxisome | 2 |
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005765 | lysosomal membrane | IDA,HDA | 17897319 |
| GO:0005768 | endosome | ISS | -- |
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for ATP6V1E1 Gene
Pathways & Interactions for ATP6V1E1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Insulin receptor recycling | ||
| 2 | Innate Immune System |
.61
|
|
| 3 | Metabolism | ||
| 4 | mTOR signaling pathway (KEGG) | ||
| 5 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | ||
Pathways by source for ATP6V1E1 Gene
10 Reactome pathways for ATP6V1E1 Gene
Interacting Proteins for ATP6V1E1 Gene
Selected Interacting proteins:
P36543-VATE1_HUMAN
ENSP00000253413
for ATP6V1E1 Gene via
IID
STRING
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006810 | transport | IEA | -- |
| GO:0006811 | ion transport | IEA | -- |
| GO:0008286 | insulin receptor signaling pathway | TAS | -- |
| GO:0015991 | ATP hydrolysis coupled proton transport | IEA | -- |
| GO:0015992 | proton transport | TAS | 8250920 |
No data available for SIGNOR curated interactions for ATP6V1E1 Gene
Drugs & Compounds for ATP6V1E1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Water | Approved | Pharma | 0 | |||
| Bafilomycin A1 | Experimental | Pharma | V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor | 0 | ||
| ATP | Investigational | Nutra | Agonist | 0 | ||
| Thonzonium Bromide | Pharma | surface active agent and inhibitor of V-ATPase proton transport | 0 | |||
| Concanamycin A | Pharma | V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist | 58-64-0 |
|
||
| Phosphate |
|
14265-44-2 |
|
(2) Tocris Compounds for ATP6V1E1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Bafilomycin A1 | H+-ATPase (vacuolar) inhibitor | 88899-55-2 |
| Concanamycin A | H+-ATPase (vacuolar) inhibitor | 80890-47-7 |
(1) ApexBio Compounds for ATP6V1E1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Thonzonium Bromide | surface active agent and inhibitor of V-ATPase proton transport | 553-08-2 |
Transcripts for ATP6V1E1 Gene
mRNA/cDNA for ATP6V1E1 Gene
- (3) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (731) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ATP6V1E1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ATP6V1E1
- genomics-online: gRNA clones - Search results for available ATP6V1E1 gene related products
- Applied Biological Materials CRISPR for ATP6V1E1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP6V1E1
- GenScript: Design CRISPR guide RNA sequences for ATP6V1E1
miRNA Products
- Search ViGene Biosciences for ATP6V1E1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for ATP6V1E1
- Browse OriGene Inhibitory RNA Products For ATP6V1E1
- genomics-online: shRNA clones - Search results for available ATP6V1E1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ATP6V1E1 gene
Clone Products
-
OriGene ORF clones in human for ATP6V1E1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ATP6V1E1
- VectorBuilder custom plasmid, inducible vectors for ATP6V1E1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ATP6V1E1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available ATP6V1E1 gene related products
- orf clones - Search results for available ATP6V1E1 gene related products
- Applied Biological Materials Clones for ATP6V1E1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||
| SP5: |
Expression for ATP6V1E1 Gene
This gene is overexpressed in Brain (14.9) and Frontal cortex (11.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATP6V1E1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ATP6V1E1 Gene:
ATP6V1E1SOURCE GeneReport for Unigene cluster for ATP6V1E1 Gene:
Hs.517338mRNA Expression by UniProt/SwissProt for ATP6V1E1 Gene:
P36543-VATE1_HUMAN
Tissue specificity:
Ubiquitous (PubMed:12036578). High expression in the skin (PubMed:28065471).
Evidence on tissue expression from TISSUES for ATP6V1E1 Gene
- Nervous system(5)
- Lung(4.6)
- Liver(4.5)
- Skin(3)
- Heart(2.4)
- Pancreas(2.4)
- Kidney(2.3)
- Spleen(2.2)
- Muscle(2.1)
Primer Products
-
OriGene qPCR primer pairs for ATP6V1E1
-
OriGene qPCR primer pairs and template standards for ATP6V1E1
- genomics-online: primer clones - Search results for available ATP6V1E1 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 and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP6V1E1 Gene
Orthologs for ATP6V1E1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ATP6V1E1 33 |
|
||
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
OneToMany | |
| ATP6V1E1 33 |
|
||||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | ATP6V1E1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Atp6v1e1 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Atp6v1e1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | ATP6V1E1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | atp6v1e1 33 |
|
||
| MGC75761 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | si:ch211-266k8.3 34 |
|
ManyToMany | |
| atp6v1e1b 33 34 |
|
||||
| atp6v1e1 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9254 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Vha26 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002401 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | vha-8 33 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | VMA4 33 34 36 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F02541g 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | VHA-E2 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os05g0480700 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5232 34 |
|
OneToMany | |
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | vma4 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU07446 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.3363 33 |
|
- Species where no ortholog for ATP6V1E1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- 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)
- 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)
Paralogs for ATP6V1E1 Gene
(4) SIMAP similar genes for ATP6V1E1 Gene using alignment to 3 proteins:
Pseudogenes.org Pseudogenes for ATP6V1E1 Gene
Variants for ATP6V1E1 Gene
| SNP ID | Clin | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1028534806 | pathogenic, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC, laxa, autosomal recessive, 2C (ARCL2C) [MIM:617402] | 17,592,721(-) | G/A | coding_sequence_variant, missense_variant | |
| rs1060505031 | pathogenic, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC | 17,600,079(-) | A/G | coding_sequence_variant, missense_variant | |
| VAR_036565 | A colorectal cancer sample | p.Arg50Gly | |||
| VAR_078604 | Cutis laxa, autosomal recessive, 2C (ARCL2C) [MIM:617402] | p.Leu128Pro | |||
| rs1000000943 | -- | 17,611,940(-) | C/A | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1278e212 | CNV | loss | 25503493 |
| dgv2428n106 | CNV | deletion | 24896259 |
| dgv4464n100 | CNV | gain | 25217958 |
| dgv4465n100 | CNV | gain | 25217958 |
| esv2272803 | CNV | deletion | 18987734 |
| esv2667900 | CNV | deletion | 23128226 |
| esv3557907 | CNV | deletion | 23714750 |
| esv3568229 | CNV | loss | 25503493 |
| esv3647227 | CNV | loss | 21293372 |
| esv3647228 | CNV | loss | 21293372 |
| esv3893428 | CNV | loss | 25118596 |
| esv3893429 | CNV | gain | 25118596 |
| nsv1065055 | CNV | gain | 25217958 |
| nsv191259 | CNV | deletion | 16902084 |
| nsv3553 | CNV | deletion | 18451855 |
| nsv428385 | CNV | gain+loss | 18775914 |
| nsv510802 | CNV | deletion | 20534489 |
| nsv526826 | CNV | gain | 19592680 |
| nsv955472 | CNV | deletion | 24416366 |
| nsv9871 | CNV | loss | 18304495 |
Residual Variation Intolerance Score:
62.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.07;
21.79% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ATP6V1E1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V1E1 Gene
Disorders for ATP6V1E1 Gene
(5) MalaCards diseases for ATP6V1E1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cutis laxa, autosomal recessive, type iic |
|
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| autosomal recessive cutis laxa type 2, classic type |
|
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| cutis laxa |
|
|
| cat eye syndrome |
|
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| anus, imperforate |
|
|
Search ATP6V1E1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
VATE1_HUMAN- Cutis laxa, autosomal recessive, 2C (ARCL2C) [MIM:617402]: A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2C patients exhibit severe hypotonia as well as cardiovascular involvement. {ECO:0000269 PubMed:28065471}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ATP6V1E1
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ATP6V1E1 Gene
Publications for ATP6V1E1 Gene
- The E subunit of vacuolar H(+)-ATPase localizes close to the centromere on human chromosome 22. (PMID: 8004105) Baud V … Lipinski M (Human molecular genetics 1994) 2 3 4 58
- Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase. (PMID: 8250920) van Hille B … Bilbe G (Biochemical and biophysical research communications 1993) 2 3 4 58
- Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. (PMID: 28065471) Van Damme T … Wevers RA (American journal of human genetics 2017) 3 4 58
- Rab11b and its effector Rip11 regulate the acidosis-induced traffic of V-ATPase in salivary ducts. (PMID: 20717956) Oehlke O … Roussa E (Journal of cellular physiology 2011) 3 4 58
- 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 58
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Sources for ATP6V1E1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
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- (7) GeneLoc
- (8) Gene Wiki
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- (50) H-invDB
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- (55) miRBase
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- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
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