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Aliases for ATP6AP1L Gene

Aliases for ATP6AP1L Gene

  • ATPase H+ Transporting Accessory Protein 1 Like 2 3 5
  • ATPase, H+ Transporting, Lysosomal Accessory Protein 1-Like 2 3
  • Vacuolar Proton Pump Subunit S1-Like Protein 3 4
  • V-Type Proton ATPase Subunit S1-Like Protein 3

External Ids for ATP6AP1L Gene

Previous GeneCards Identifiers for ATP6AP1L Gene

  • GC05P081612
  • GC05P076809

Summaries for ATP6AP1L Gene

GeneCards Summary for ATP6AP1L Gene

ATP6AP1L (ATPase H+ Transporting Accessory Protein 1 Like) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include proton-transporting ATPase activity, rotational mechanism and proton-transporting ATP synthase activity, rotational mechanism. An important paralog of this gene is ATP6AP1.

Additional gene information for ATP6AP1L Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6AP1L Gene

Genomics for ATP6AP1L Gene

GeneHancer (GH) Regulatory Elements for ATP6AP1L Gene

Promoters and enhancers for ATP6AP1L 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
GH05J082276 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 727.6 -0.7 -688 3.6 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF213 ZNF207 ZNF143 ATP6AP1L RPS23 GC05M082258 GC05P082278 ZCCHC9 ATG10 CKMT2-AS1 ENSG00000251374
GH05J082274 Enhancer 0.7 ENCODE 77.2 -3.8 -3805 1.4 BACH1 SIN3A ZNF48 CHAMP1 CCNT2 POLR2B POLR2A NFATC1 ZNF143 RBM22 ATP6AP1L ZCCHC9 CKMT2-AS1 GC05M082258 GC05P082278 RPS23 ENSG00000251374 ATG10
GH05J082293 Enhancer 0.5 ENCODE 74.9 +15.7 15680 1.2 ZNF362 NANOG POLR2A POU5F1 ZNF143 EZH2 ATP6AP1L GC05M082258 GC05M082354
GH05J081970 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 17 -306.9 -306889 2.8 HDGF FOXA2 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF766 ATG10 ATP6AP1L RPS23 SEM1P1
GH05J082351 Enhancer 1.2 Ensembl ENCODE dbSUPER 20.9 +73.5 73476 1.3 ELF3 ZNF2 RAD21 ZNF335 ZSCAN5C ZNF143 ETV6 ZNF654 NCOA1 REST ATP6AP1L GC05M082354 GC05M082258
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATP6AP1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATP6AP1L gene promoter:

Genomic Locations for ATP6AP1L Gene

Genomic Locations for ATP6AP1L Gene
chr5:82,278,665-82,386,977
(GRCh38/hg38)
Size:
108,313 bases
Orientation:
Plus strand
chr5:81,575,281-81,682,796
(GRCh37/hg19)

Genomic View for ATP6AP1L Gene

Genes around ATP6AP1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6AP1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6AP1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6AP1L Gene

Proteins for ATP6AP1L Gene

  • Protein details for ATP6AP1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q52LC2-VAS1L_HUMAN
    Recommended name:
    V-type proton ATPase subunit S1-like protein
    Protein Accession:
    Q52LC2

    Protein attributes for ATP6AP1L Gene

    Size:
    224 amino acids
    Molecular mass:
    25310 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ATP6AP1L Gene

Post-translational modifications for ATP6AP1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ATP6AP1L Gene

Domains & Families for ATP6AP1L Gene

Gene Families for ATP6AP1L Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for ATP6AP1L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ATP6AP1L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q52LC2

UniProtKB/Swiss-Prot:

VAS1L_HUMAN :
  • Belongs to the vacuolar ATPase subunit S1 family.
Family:
  • Belongs to the vacuolar ATPase subunit S1 family.
genes like me logo Genes that share domains with ATP6AP1L: view

Function for ATP6AP1L Gene

Phenotypes From GWAS Catalog for ATP6AP1L Gene

Gene Ontology (GO) - Molecular Function for ATP6AP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046933 proton-transporting ATP synthase activity, rotational mechanism IEA --
GO:0046961 proton-transporting ATPase activity, rotational mechanism IEA --
genes like me logo Genes that share ontologies with ATP6AP1L: view

Phenotypes for ATP6AP1L Gene

genes like me logo Genes that share phenotypes with ATP6AP1L: view

Animal Model Products

CRISPR Products

miRNA for ATP6AP1L Gene

miRTarBase miRNAs that target ATP6AP1L

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6AP1L

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP6AP1L Gene

Localization for ATP6AP1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP6AP1L Gene

Membrane; Single-pass membrane protein.

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 ATP6AP1L gene
Compartment Confidence
plasma membrane 3
mitochondrion 2
peroxisome 1
nucleus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ATP6AP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0033180 proton-transporting V-type ATPase, V1 domain IEA --
genes like me logo Genes that share ontologies with ATP6AP1L: view

Pathways & Interactions for ATP6AP1L Gene

SuperPathways for ATP6AP1L Gene

No Data Available

Interacting Proteins for ATP6AP1L Gene

Gene Ontology (GO) - Biological Process for ATP6AP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015991 ATP hydrolysis coupled proton transport IEA --
genes like me logo Genes that share ontologies with ATP6AP1L: view

No data available for Pathways by source and SIGNOR curated interactions for ATP6AP1L Gene

Drugs & Compounds for ATP6AP1L Gene

No Compound Related Data Available

Transcripts for ATP6AP1L Gene

Unigene Clusters for ATP6AP1L Gene

ATPase, H+ transporting, lysosomal accessory protein 1-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6AP1L

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6AP1L Gene

No ASD Table

Relevant External Links for ATP6AP1L Gene

GeneLoc Exon Structure for
ATP6AP1L
ECgene alternative splicing isoforms for
ATP6AP1L

Expression for ATP6AP1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP6AP1L Gene

NURSA nuclear receptor signaling pathways regulating expression of ATP6AP1L Gene:

ATP6AP1L

SOURCE GeneReport for Unigene cluster for ATP6AP1L Gene:

Hs.729805

Evidence on tissue expression from TISSUES for ATP6AP1L Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with ATP6AP1L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP6AP1L Gene

Orthologs for ATP6AP1L Gene

This gene was present in the common ancestor of animals.

Orthologs for ATP6AP1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP6AP1L 34 33
  • 99.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6AP1L 34
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6ap1l 34
  • 42 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6AP1L 34
  • 38 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP6AP1L 34
  • 36 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP6AP1L 34
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6AP1L 34
  • 50 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ATP6AP1L (2 of 2) 34
  • 40 (a)
OneToMany
ATP6AP1L (1 of 2) 34
  • 22 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta VhaAC45 34
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 9 (a)
OneToMany
Species where no ortholog for ATP6AP1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ATP6AP1L Gene

ENSEMBL:
Gene Tree for ATP6AP1L (if available)
TreeFam:
Gene Tree for ATP6AP1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP6AP1L: view image

Paralogs for ATP6AP1L Gene

Paralogs for ATP6AP1L Gene

(3) SIMAP similar genes for ATP6AP1L Gene using alignment to 1 proteins:

  • VAS1L_HUMAN
genes like me logo Genes that share paralogs with ATP6AP1L: view

Variants for ATP6AP1L Gene

Sequence variations from dbSNP and Humsavar for ATP6AP1L Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000059786 -- 82,315,614(+) G/C genic_downstream_transcript_variant, intron_variant
rs1000069265 -- 82,327,438(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000121157 -- 82,327,817(+) G/T genic_downstream_transcript_variant, intron_variant
rs1000164590 -- 82,283,177(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000196952 -- 82,328,995(+) C/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ATP6AP1L Gene

Variant ID Type Subtype PubMed ID
nsv472276 CNV novel sequence insertion 20440878
nsv520938 CNV gain 19592680
nsv830364 CNV loss 17160897

Variation tolerance for ATP6AP1L Gene

Residual Variation Intolerance Score: 72.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.09; 38.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP6AP1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6AP1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6AP1L Gene

Disorders for ATP6AP1L Gene

Additional Disease Information for ATP6AP1L

No disorders were found for ATP6AP1L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP6AP1L Gene

Publications for ATP6AP1L Gene

  1. An analysis of gene expression in PTSD implicates genes involved in the glucocorticoid receptor pathway and neural responses to stress. (PMID: 25867994) Logue MW … Miller MW (Psychoneuroendocrinology 2015) 2 3 58
  2. Common variants at 5q22 associate with pediatric eosinophilic esophagitis. (PMID: 20208534) Rothenberg ME … Hakonarson H (Nature genetics 2010) 44 58
  3. A genome-wide association study of sporadic ALS in a homogenous Irish population. (PMID: 18057069) Cronin S … Hardiman O (Human molecular genetics 2008) 44 58
  4. Identification of genes related to Parkinson's disease using expressed sequence tags. (PMID: 17213182) Kim JM … Kim NS (DNA research : an international journal for rapid publication of reports on genes and genomes 2006) 3 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 58

Products for ATP6AP1L Gene

Sources for ATP6AP1L Gene

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