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Aliases for ATP6V1E1 Gene

Aliases for ATP6V1E1 Gene

  • ATPase H+ Transporting V1 Subunit E1 2 3 5
  • ATPase, H+ Transporting, Lysosomal 31kDa, V1 Subunit E1 2 3
  • Vacuolar Proton Pump Subunit E 1 3 4
  • V-ATPase 31 KDa Subunit 3 4
  • V-ATPase Subunit E 1 3 4
  • ATP6E2 3 4
  • ATP6E 3 4
  • P31 3 4
  • 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-Type Proton ATPase Subunit E 1 3
  • V-ATPase, Subunit E 3
  • ATP6V1E 3
  • ARCL2C 3
  • Vma4 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 Autosomal Recessive Cutis Laxa Type Ii Classic Type. Among its related pathways are Rheumatoid arthritis 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 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 , 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
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 667 +0.0 21 2.6 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 FOS ATP6V1E1 BCL2L13 HDHD5 ENSG00000236890 PIR61133
GH22J017637 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.9 -10.2 -10216 3.3 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 BCL2L13 ATP6V1E1 SLC25A18 BID HDHD5-AS1 PIR47030
GH22J017631 Enhancer 1.3 Ensembl ENCODE dbSUPER 15.5 -4.7 -4693 3.2 HDGF FOXA2 ARNT TCF12 ARID2 ZFP91 FOS REST ZNF592 ATF4 BID ATP6V1E1 SLC25A18 ENSG00000236890 BCL2L13 PIR47030
GH22J017671 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12 -44.3 -44324 2.5 HDGF PKNOX1 ATF1 ARNT NCOA2 ZNF280A TCF12 POLR2B ZNF766 E2F8 ATP6V1E1 BID BCL2L13 PIR47030
GH22J017705 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 11.8 -77.8 -77786 3 HDGF PKNOX1 SMAD1 SIN3A IRF4 RAD21 RFX5 YY1 ZNF121 ATF7 BID ATP6V1E1 BCL2L13 PIR47030
- 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 UCSC Golden Path with GeneCards custom track

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

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)
Size:
36,687 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 StructureGene 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
    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

Post-translational modifications for ATP6V1E1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP6V1E1 Gene

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

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

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 IEA --
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 Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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
extracellular 5
cytosol 5
lysosome 5
endosome 5
plasma membrane 4
nucleus 3
mitochondrion 2
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ATP6V1E1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005765 lysosomal membrane HDA 17897319
GO:0005768 endosome ISS --
GO:0005829 cytosol TAS --
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:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0016241 regulation of macroautophagy NAS 22982048
GO:0033572 transferrin 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

(5) Drugs for ATP6V1E1 Gene - From: HMDB and Tocris

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, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 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

(2) 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
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
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
genes like me logo Genes that share compounds with ATP6V1E1: view

Transcripts for ATP6V1E1 Gene

mRNA/cDNA for ATP6V1E1 Gene

Unigene Clusters for ATP6V1E1 Gene

ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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
ECgene alternative splicing isoforms for
ATP6V1E1

Expression for ATP6V1E1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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

NURSA nuclear receptor signaling pathways regulating expression of ATP6V1E1 Gene:

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(4.6)
  • Liver(4.5)
  • Skin(3)
  • Heart(2.4)
  • Pancreas(2.4)
  • Kidney(2.3)
  • Spleen(2.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with ATP6V1E1: view

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 33
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 99 (a)
OneToMany
ATP6V1E1 33
  • 94.1 (n)
-- 34
  • 90 (a)
OneToMany
-- 34
  • 86 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ATP6V1E1 34 33
  • 92.18 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6v1e1 16 34 33
  • 91 (n)
rat
(Rattus norvegicus)
Mammalia Atp6v1e1 33
  • 90.56 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 83 (a)
ManyToMany
-- 34
  • 81 (a)
ManyToMany
-- 34
  • 59 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves ATP6V1E1 34 33
  • 82.15 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 85 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1e1 33
  • 75.66 (n)
MGC75761 33
zebrafish
(Danio rerio)
Actinopterygii si:ch211-266k8.3 34
  • 74 (a)
ManyToMany
atp6v1e1b 34 33
  • 73.16 (n)
ManyToMany
atp6v1e1 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9254 33
fruit fly
(Drosophila melanogaster)
Insecta Vha26 34 33
  • 61.8 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002401 33
  • 60.47 (n)
worm
(Caenorhabditis elegans)
Secernentea vha-8 34 33
  • 58.85 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA4 36 34 33
  • 48.22 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F02541g 33
  • 47.32 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons VHA-E2 33
  • 50.46 (n)
rice
(Oryza sativa)
Liliopsida Os05g0480700 33
  • 50.93 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5232 34
  • 48 (a)
OneToMany
Cin.3363 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vma4 33
  • 47.83 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07446 33
  • 47.7 (n)
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)

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

Sequence variations from dbSNP and Humsavar 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

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

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

Disorders for ATP6V1E1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ATP6V1E1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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 mutations affecting the gene represented in this entry.

Additional Disease Information for ATP6V1E1

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

No data available for Genatlas for ATP6V1E1 Gene

Publications for ATP6V1E1 Gene

  1. 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
  2. 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
  3. 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
  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 58
  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 58

Products for ATP6V1E1 Gene

Sources for ATP6V1E1 Gene

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