ATP6V1E1 Gene (Protein Coding)

ATPase H+ Transporting V1 Subunit E1

GC22M017592
GIFtS:
45
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... See more...

Aliases for ATP6V1E1 Gene

Aliases for ATP6V1E1 Gene

  • ATPase H+ Transporting V1 Subunit E1 2 3 5
  • ATP6E2 2 3 4
  • P31 2 3 4
  • ATPase, H+ Transporting, Lysosomal 31kDa, V1 Subunit E1 2 3
  • V-Type Proton ATPase Subunit E 1 3 4
  • Vacuolar Proton Pump Subunit E 1 3 4
  • V-ATPase 31 KDa Subunit 3 4
  • V-ATPase Subunit E 1 3 4
  • ATP6E 3 4
  • Vma4 2 3
  • ATPase, H+ Transporting, Lysosomal 31kDa, V1 Subunit E Isoform 1 2
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 31kD 2
  • H(+)-Transporting Two-Sector ATPase, 31kDa Subunit 3
  • H+-Transporting ATP Synthase Chain E, Vacuolar 3
  • V-ATPase, Subunit E 3
  • ATP6V1E1 5
  • ATP6V1E 3
  • ARCL2C 3

External Ids for ATP6V1E1 Gene

Previous HGNC Symbols for ATP6V1E1 Gene

  • ATP6E
  • ATP6V1E

Previous GeneCards Identifiers for ATP6V1E1 Gene

  • GC22M015015
  • GC22M016449
  • GC22M018074
  • GC22M001890

Summaries for ATP6V1E1 Gene

Entrez Gene Summary 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 Cat Eye Syndrome. Among its related pathways are Signaling by GPCR and Insulin receptor recycling. Gene Ontology (GO) annotations related to this gene include ATPase binding and proton-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V1E2.

UniProtKB/Swiss-Prot Summary 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.

Tocris Summary for ATP6V1E1 Gene

  • 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.

Gene Wiki entry for ATP6V1E1 Gene

Additional gene information for ATP6V1E1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP6V1E1 Gene

Genomics for ATP6V1E1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ATP6V1E1 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
GH22J017627 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 267 +0.1 121 3 TBP ZBTB10 MXD4 SP1 NR2C1 MNT IKZF1 SMAD5 ETS1 MBD2 ATP6V1E1 BCL2L13 lnc-ATP6V1E1-2 TMEM121B piR-38088 LOC101929372
GH22J017637 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 13.9 -10.1 -10149 3.5 TBP ZBTB10 CEBPA NR2C1 MNT IKZF1 SMAD5 ETS1 MBD2 ZNF217 BCL2L13 NONHSAG033213.2 ATP6V1E1 SLC25A18 TMEM121B BID HDHD5-AS1 SNODB1282
GH22J017671 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12 -47.3 -47279 9.4 MNT CEBPB ARNT ZNF395 GTF2E2 NFATC3 VEZF1 NBN ZEB2 TAL1 ATP6V1E1 SLC25A18 BID TMEM121B BCL2L13 HSALNG0133917 piR-43105-415 NONHSAG033213.2
GH22J017631 Enhancer 1.1 ENCODE dbSUPER 15.4 -4.7 -4693 3.2 NONO HOMEZ ARNT ZNF395 REST NFATC3 FOXA2 NBN MAFF SAP130 BID ATP6V1E1 SLC25A18 ENSG00000236890 BCL2L13 NONHSAG033213.2
GH22J017705 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 11.8 -77.8 -77823 3.1 MAX IRF4 TRIM22 RXRA PRDM1 EBF1 RFX5 SMARCA5 TBP ZNF316 BID ATP6V1E1 BCL2L13 HSALNG0133918 piR-53031
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP6V1E1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP6V1E1

Top Transcription factor binding sites by QIAGEN in the ATP6V1E1 gene promoter:
  • AhR
  • Arnt
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • Egr-1
  • NF-Y
  • NF-YA
  • NF-YB

Genomic Locations for ATP6V1E1 Gene

Latest Assembly
chr22:17,592,136-17,628,822
(GRCh38/hg38)
Size:
36,687 bases
Orientation:
Minus strand

Previous Assembly
chr22:18,074,902-18,111,588
(GRCh37/hg19 by Entrez Gene)
Size:
36,687 bases
Orientation:
Minus strand

chr22:18,074,902-18,111,584
(GRCh37/hg19 by Ensembl)
Size:
36,683 bases
Orientation:
Minus strand

Genomic View for ATP6V1E1 Gene

Genes around ATP6V1E1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V1E1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6V1E1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ATP6V1E1 Gene

Proteins for ATP6V1E1 Gene

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  • 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
    Secondary Accessions:
    • 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.

    Alternative splice isoforms for ATP6V1E1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP6V1E1 Gene

Protein Expression for ATP6V1E1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ATP6V1E1 Gene

  • Ubiquitination at Lys10
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP6V1E1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Boster Bio Antibodies for ATP6V1E1

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):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for ATP6V1E1 Gene

InterPro:
Blocks:
  • H+-transporting two-sector ATPase, E subunit
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

UniProtKB/Swiss-Prot:

VATE1_HUMAN :
  • Belongs to the V-ATPase E subunit family.
Family:
  • Belongs to the V-ATPase E subunit family.
genes like me logo Genes that share domains with ATP6V1E1: view

Function for ATP6V1E1 Gene

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  6. Cell Lines for research

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

Gene Ontology (GO) - Molecular Function for ATP6V1E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11399750
GO:0008553 proton-exporting ATPase activity, phosphorylative mechanism IBA 21873635
GO:0016787 hydrolase activity IEA --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IEA --
GO:0051117 ATPase binding IPI 20717956
genes like me logo Genes that share ontologies with ATP6V1E1: view
genes like me logo Genes that share phenotypes with ATP6V1E1: view

Human Phenotype Ontology for ATP6V1E1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

Inhibitory RNAs for research

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No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP6V1E1 Gene

Localization for ATP6V1E1 Gene

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 ATP6V1E1 gene
Compartment Confidence
cytosol 5
plasma membrane 4
extracellular 4
endosome 4
lysosome 4
nucleus 3
mitochondrion 2
peroxisome 2
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATP6V1E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005765 lysosomal membrane HDA 17897319
GO:0005768 endosome ISS --
GO:0005829 cytosol TAS --
GO:0005902 microvillus IEA --
genes like me logo Genes that share ontologies with ATP6V1E1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ATP6V1E1 Gene

Pathways & Interactions for ATP6V1E1 Gene

genes like me logo Genes that share pathways with ATP6V1E1: view

Gene Ontology (GO) - Biological Process for ATP6V1E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0016241 regulation of macroautophagy NAS 22982048
GO:0033572 transferrin transport TAS --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with ATP6V1E1: view

No data available for SIGNOR curated interactions for ATP6V1E1 Gene

Drugs & Compounds for ATP6V1E1 Gene

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(7) Drugs for ATP6V1E1 Gene - From: DrugBank, ApexBio, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
tiludronate Approved, Investigational, Vet_approved Pharma Target, inhibitor 2
Water Approved Pharma 0
Phosphate Experimental Pharma 0
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0
Concanamycin A Experimental Pharma V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor 0

(1) Additional Compounds for ATP6V1E1 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
 58-64-0

(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
genes like me logo Genes that share compounds with ATP6V1E1: view

Drug products for research

Transcripts for ATP6V1E1 Gene

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mRNA/cDNA for ATP6V1E1 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1E1

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1E1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1: - - -
SP2: - - - -
SP3: - -
SP4: -
SP5:

Relevant External Links for ATP6V1E1 Gene

GeneLoc Exon Structure for
ATP6V1E1

Expression for ATP6V1E1 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP6V1E1 Gene

mRNA expression in normal human tissues for ATP6V1E1 Gene
mRNA expression by GTEx for ATP6V1E1 GenemRNA expression by BioGPS for ATP6V1E1 Gene

Protein differential expression in normal tissues from HIPED 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, MaxQB, and MOPED for ATP6V1E1 Gene



Protein tissue co-expression partners for ATP6V1E1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP6V1E1

SOURCE GeneReport for Unigene cluster for ATP6V1E1 Gene:

Hs.517338

mRNA 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(4.7)
  • Liver(4.6)
  • Skin(3.5)
  • Kidney(3)
  • Heart(2.7)
  • Spleen(2.5)
  • Muscle(2.5)
  • Pancreas(2.4)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with ATP6V1E1: view

Primer products for research

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.

Orthologs for ATP6V1E1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ATP6V1E1 30
  • 99.71 (n)
Dog
(Canis familiaris)
 Mammalia -- 31
  • 99 (a)
 OneToMany
ATP6V1E1 30
  • 94.1 (n)
-- 31
  • 90 (a)
 OneToMany
-- 31
  • 86 (a)
 OneToMany
Cow
(Bos Taurus)
 Mammalia ATP6V1E1 30 31
  • 92.18 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Atp6v1e1 30 17 31
  • 91 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Atp6v1e1 30
  • 90.56 (n)
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 83 (a)
 ManyToMany
-- 31
  • 81 (a)
 ManyToMany
-- 31
  • 59 (a)
 ManyToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 64 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves ATP6V1E1 30 31
  • 82.15 (n)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 85 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia atp6v1e1 30
  • 75.66 (n)
MGC75761 30
Zebrafish
(Danio rerio)
 Actinopterygii si:ch211-266k8.3 31
  • 74 (a)
 ManyToMany
atp6v1e1b 30 31
  • 73.16 (n)
 ManyToMany
atp6v1e1 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9254 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Vha26 30 31
  • 61.8 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP002401 30
  • 60.47 (n)
Worm
(Caenorhabditis elegans)
 Secernentea vha-8 30 31
  • 58.85 (n)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes VMA4 30 31 33
  • 48.22 (n)
 OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F02541g 30
  • 47.32 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons VHA-E2 30
  • 50.46 (n)
Rice
(Oryza sativa)
 Liliopsida Os05g0480700 30
  • 50.93 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.5232 31
  • 48 (a)
 OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes vma4 30
  • 47.83 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU07446 30
  • 47.7 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.3363 30
Species where no ortholog for ATP6V1E1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)

Evolution for ATP6V1E1 Gene

ENSEMBL:
Gene Tree for ATP6V1E1 (if available)
TreeFam:
Gene Tree for ATP6V1E1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP6V1E1: view image

Paralogs for ATP6V1E1 Gene

Paralogs for ATP6V1E1 Gene

(4) SIMAP similar genes for ATP6V1E1 Gene using alignment to 3 proteins:

  • VATE1_HUMAN
  • C9J8H1_HUMAN
  • Q53Y06_HUMAN

Pseudogenes.org Pseudogenes for ATP6V1E1 Gene

genes like me logo Genes that share paralogs with ATP6V1E1: view

Variants for ATP6V1E1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP6V1E1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
872334 Uncertain Significance: not provided 17,600,070(-) C/T
NM_001696.4(ATP6V1E1):c.392G>A (p.Arg131Gln) 		MISSENSE
rs1028534806 Pathogenic: Autosomal recessive cutis laxa type 2c. Cutis laxa, autosomal recessive, 2C (ARCL2C) [MIM:617402] 17,592,721(-) G/Ap.Arg212Trp
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp) 		MISSENSE
rs1060505031 Pathogenic: Autosomal recessive cutis laxa type 2c. Cutis laxa, autosomal recessive, 2C (ARCL2C) [MIM:617402] 17,600,079(-) A/Gp.Leu128Pro
NM_001696.4(ATP6V1E1):c.383T>C (p.Leu128Pro) 		MISSENSE
rs147042004 Benign: not provided 17,612,843(-) T/C
NM_001696.4(ATP6V1E1):c.245A>G (p.Lys82Arg) 		MISSENSE
rs1555866597 Uncertain Significance: not provided 17,628,635(-) T/C
NM_001696.4(ATP6V1E1):c.1A>G (p.Met1Val) 		INITIATIOR_CODON_VARIANT,MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATP6V1E1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ATP6V1E1 Gene

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

Variation tolerance for ATP6V1E1 Gene

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

Human Gene Mutation Database (HGMD)
ATP6V1E1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6V1E1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V1E1 Gene

Disorders for ATP6V1E1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ATP6V1E1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

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 variants affecting the gene represented in this entry.

Additional Disease Information for ATP6V1E1

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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No data available for Genatlas for ATP6V1E1 Gene

Publications for ATP6V1E1 Gene

  1. 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 74
  2. 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
  3. 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
  4. 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
  5. 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

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