This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and re... See more...

Aliases for ATP6AP1 Gene

Aliases for ATP6AP1 Gene

  • ATPase H+ Transporting Accessory Protein 1 2 3 5
  • VATPS1 2 3 4
  • XAP3 2 3 4
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump), Subunit 1 2 3
  • ATPase, H+ Transporting, Lysosomal Accessory Protein 1 2 3
  • V-Type Proton ATPase Subunit S1 3 4
  • Vacuolar Proton Pump Subunit S1 3 4
  • V-ATPase S1 Accessory Protein 3 4
  • V-ATPase Ac45 Subunit 3 4
  • V-ATPase Subunit S1 3 4
  • Protein XAP-3 3 4
  • ATP6IP1 3 4
  • ATP6S1 3 4
  • XAP-3 2 3
  • Ac45 2 3
  • 16A 2 3
  • CF2 2 3
  • ATPase, H+ Transporting, Lysosomal Interacting Protein 1 3
  • Epididymis Secretory Sperm Binding Protein 3
  • H-ATPase Subunit 3
  • ATP6AP1 5
  • ORF 2

External Ids for ATP6AP1 Gene

Previous HGNC Symbols for ATP6AP1 Gene

  • ATP6S1
  • ATP6IP1

Previous GeneCards Identifiers for ATP6AP1 Gene

  • GC0XP151242
  • GC0XP152124
  • GC0XP153177
  • GC0XP153310
  • GC0XP153657
  • GC0XP142234

Summaries for ATP6AP1 Gene

Entrez Gene Summary for ATP6AP1 Gene

  • This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013]

GeneCards Summary for ATP6AP1 Gene

ATP6AP1 (ATPase H+ Transporting Accessory Protein 1) is a Protein Coding gene. Diseases associated with ATP6AP1 include Immunodeficiency 47 and Congenital Disorder Of Glycosylation, Type Iio. Among its related pathways are Insulin receptor recycling and Lysosome. Gene Ontology (GO) annotations related to this gene include transporter activity and proton-transporting ATPase activity, rotational mechanism.

UniProtKB/Swiss-Prot Summary for ATP6AP1 Gene

  • Accessory subunit of the proton-transporting vacuolar (V)-ATPase protein pump, which is required for luminal acidification of secretory vesicles. Guides the V-type ATPase into specialized subcellular compartments, such as neuroendocrine regulated secretory vesicles or the ruffled border of the osteoclast, thereby regulating its activity. Involved in membrane trafficking and Ca(2+)-dependent membrane fusion. May play a role in the assembly of the V-type ATPase complex. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633).

Gene Wiki entry for ATP6AP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP6AP1 Gene

Genomics for ATP6AP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP6AP1 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
GH0XJ154426 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.8 769 5.6 SP1 MYC IKZF1 ZNF600 ZNF592 YY1 MXD4 SMAD5 CHD2 BHLHE40 ATP6AP1 CH17-340M24.3 HSALNG0140852 FAM50A FAM3A SNORA70 HCFC1 SNORA56 PLXNA3 DKC1
GH0XJ154483 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 12.2 +57.2 57201 3.8 ZNF600 NCOR1 MYC IKZF1 ZNF592 ZIC2 ZBTB10 NONO SMAD5 BHLHE40 UBL4A lnc-SLC10A3-1 LAGE3 FAM3A FAM50A GDI1 ATP6AP1 CH17-340M24.3 SLC10A3 RF00017-8188
GH0XJ154325 Promoter/Enhancer 0.8 Ensembl ENCODE 11.7 -101.7 -101653 2 ZNF600 TRIM28 SPI1 OSR2 ZBTB17 SCRT2 CTCF HSALNG0140833 HSALNG0140834 PLXNA3 ATP6AP1 CH17-340M24.3 GDI1 FAM50A DNASE1L1 TEX28 TKTL1
GH0XJ154505 Enhancer 0.6 Ensembl ENCODE 12.2 +77.4 77420 1.3 ZIC2 MAFK CEBPB lnc-SLC10A3-4 FAM3A IKBKG G6PD LAGE3 FAM50A GDI1 ATP6AP1 CH17-340M24.3 RENBP
GH0XJ154038 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE 5 -387.0 -386985 5.9 ZNF600 CEBPA SAP130 TEAD3 MYC MAX POLR2A ZNF664 BHLHE40 CEBPG TMEM187 IRAK1 HCFC1 HCFC1-AS1 IKBKG ABCD1 DNASE1L1 MECP2 FAM50A ATP6AP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP6AP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP6AP1

Top Transcription factor binding sites by QIAGEN in the ATP6AP1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • Nkx2-5
  • YY1

Genomic Locations for ATP6AP1 Gene

Latest Assembly
chrX:154,428,633-154,436,516
(GRCh38/hg38)
Size:
7,884 bases
Orientation:
Plus strand

Previous Assembly
chrX:153,657,023-153,664,862
(GRCh37/hg19 by Entrez Gene)
Size:
7,840 bases
Orientation:
Plus strand

chrX:153,656,978-153,664,862
(GRCh37/hg19 by Ensembl)
Size:
7,885 bases
Orientation:
Plus strand

Genomic View for ATP6AP1 Gene

Genes around ATP6AP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6AP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6AP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6AP1 Gene

Proteins for ATP6AP1 Gene

  • Protein details for ATP6AP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15904-VAS1_HUMAN
    Recommended name:
    V-type proton ATPase subunit S1
    Protein Accession:
    Q15904
    Secondary Accessions:
    • A6ZKI4
    • Q8NBT4
    • Q9H0C7

    Protein attributes for ATP6AP1 Gene

    Size:
    470 amino acids
    Molecular mass:
    52026 Da
    Quaternary structure:
    • Accessory component of the multisubunit proton-transporting vacuolar (V)-ATPase protein pump. Interacts (via N-terminus) with ATP6AP2 (via N-terminus).
    SequenceCaution:
    • Sequence=BAA03938.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAB66785.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for ATP6AP1 Gene

Post-translational modifications for ATP6AP1 Gene

  • N-glycosylated.
  • Glycosylation at Asn170, Thr184, Asn261, Asn273, Asn296, Asn303, Asn350, and Asn357
  • Ubiquitination at Lys380
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibodies for research

  • Abcam antibodies for ATP6AP1

No data available for DME Specific Peptides for ATP6AP1 Gene

Domains & Families for ATP6AP1 Gene

Gene Families for ATP6AP1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ATP6AP1 Gene

InterPro:
Blocks:
  • Vacuolar ATP synthase subunit S1

Suggested Antigen Peptide Sequences for ATP6AP1 Gene

GenScript: Design optimal peptide antigens:
  • Drop1 fusion protein (B3W695_HUMAN)
  • Orf protein (O60771_HUMAN)
  • ORF protein (Q00849_HUMAN)
  • ORF protein (Q7KYM9_HUMAN)
  • Vacuolar proton pump subunit S1 (VAS1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15904

UniProtKB/Swiss-Prot:

VAS1_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 ATP6AP1: view

Function for ATP6AP1 Gene

Molecular function for ATP6AP1 Gene

UniProtKB/Swiss-Prot Function:
Accessory subunit of the proton-transporting vacuolar (V)-ATPase protein pump, which is required for luminal acidification of secretory vesicles. Guides the V-type ATPase into specialized subcellular compartments, such as neuroendocrine regulated secretory vesicles or the ruffled border of the osteoclast, thereby regulating its activity. Involved in membrane trafficking and Ca(2+)-dependent membrane fusion. May play a role in the assembly of the V-type ATPase complex. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633).

Phenotypes From GWAS Catalog for ATP6AP1 Gene

Gene Ontology (GO) - Molecular Function for ATP6AP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 29127204
GO:0005524 ATP binding IEA --
GO:0031267 small GTPase binding ISS --
genes like me logo Genes that share ontologies with ATP6AP1: view
genes like me logo Genes that share phenotypes with ATP6AP1: view

Human Phenotype Ontology for ATP6AP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATP6AP1 Gene

MGI Knock Outs for ATP6AP1:

miRNA for ATP6AP1 Gene

miRTarBase miRNAs that target ATP6AP1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6AP1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ATP6AP1 Gene

Localization for ATP6AP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP6AP1 Gene

Endoplasmic reticulum membrane. Single-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane. Note=Not detected in trans-Golgi network. {ECO:0000269 PubMed:27231034}.

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 ATP6AP1 gene
Compartment Confidence
plasma membrane 4
extracellular 4
endosome 4
cytoskeleton 3
cytosol 3
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 2
nucleus 1

Gene Ontology (GO) - Cellular Components for ATP6AP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0010008 endosome membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ATP6AP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP6AP1 Gene

Pathways & Interactions for ATP6AP1 Gene

genes like me logo Genes that share pathways with ATP6AP1: view

SIGNOR curated interactions for ATP6AP1 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for ATP6AP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006879 cellular iron ion homeostasis IMP 28296633
GO:0008286 insulin receptor signaling pathway TAS --
GO:0030641 regulation of cellular pH IBA 21873635
GO:0033572 transferrin transport TAS --
genes like me logo Genes that share ontologies with ATP6AP1: view

Drugs & Compounds for ATP6AP1 Gene

(7) Drugs for ATP6AP1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
tiludronate Approved, Investigational, Vet_approved Pharma Target, inhibitor 2
Water Approved Pharma 0
3-{[(5R,6R)-5-Benzyl-6-hydroxy-2,4-bis(4-hydroxybenzyl)-3-oxo-1,2,4-triazepan-1-yl]sulfonyl}benzonitril Experimental Pharma Target 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(2) Additional Compounds for ATP6AP1 Gene - From: Novoseek and 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
genes like me logo Genes that share compounds with ATP6AP1: view

Transcripts for ATP6AP1 Gene

mRNA/cDNA for ATP6AP1 Gene

1 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
14 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 ATP6AP1

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6AP1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c
SP1: - -
SP2: - -
SP3: -
SP4: - - - - - -
SP5:
SP6: - - - - - -

Relevant External Links for ATP6AP1 Gene

GeneLoc Exon Structure for
ATP6AP1

Expression for ATP6AP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP6AP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATP6AP1 Gene

This gene is overexpressed in Amniocyte (20.4), Cerebrospinal fluid (8.5), Brain (6.3), and Adrenal (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP6AP1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP6AP1

SOURCE GeneReport for Unigene cluster for ATP6AP1 Gene:

Hs.6551

mRNA Expression by UniProt/SwissProt for ATP6AP1 Gene:

Q15904-VAS1_HUMAN
Tissue specificity: widely expressed, with highest levels in brain and lowest in liver and duodenum.

Evidence on tissue expression from TISSUES for ATP6AP1 Gene

  • Nervous system(5)
  • Kidney(4.9)
  • Liver(4.6)
  • Skin(4.1)
  • Intestine(4)
  • Lung(3.9)
  • Blood(3.8)
  • Eye(3.5)
  • Pancreas(3.1)
  • Spleen(2.9)
  • Muscle(2.7)
  • Heart(2.6)
  • Stomach(2.2)
  • Adrenal gland(2.2)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with ATP6AP1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP6AP1 Gene

Orthologs for ATP6AP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATP6AP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATP6AP1 29 30
  • 98.28 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP6AP1 29 30
  • 89.79 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP6AP1 29 30
  • 85.94 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp6ap1 29
  • 85.1 (n)
Mouse
(Mus musculus)
Mammalia Atp6ap1 29 16 30
  • 84.95 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ATP6AP1 30
  • 73 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATP6AP1 30
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ATP6AP1 30
  • 36 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATP6AP1 30
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp6ap1.2 29
  • 62.36 (n)
African clawed frog
(Xenopus laevis)
Amphibia X1311 29
Zebrafish
(Danio rerio)
Actinopterygii atp6ap1a 29 30
  • 56.12 (n)
OneToMany
atp6ap1b 30
  • 43 (a)
OneToMany
atp6ap1 29
Fruit Fly
(Drosophila melanogaster)
Insecta VhaAC45 30
  • 19 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 22 (a)
OneToMany
Species where no ortholog for ATP6AP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ATP6AP1 Gene

ENSEMBL:
Gene Tree for ATP6AP1 (if available)
TreeFam:
Gene Tree for ATP6AP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP6AP1: view image
Alliance of Genome Resources:
Additional Orthologs for ATP6AP1

Paralogs for ATP6AP1 Gene

(3) SIMAP similar genes for ATP6AP1 Gene using alignment to 6 proteins:

  • VAS1_HUMAN
  • A6NLC6_HUMAN
  • A6QRJ1_HUMAN
  • F2Z3L8_HUMAN
  • H7C0T7_HUMAN
  • H7C2Y8_HUMAN
genes like me logo Genes that share paralogs with ATP6AP1: view

No data available for Paralogs for ATP6AP1 Gene

Variants for ATP6AP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP6AP1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
1022306 Uncertain Significance: not provided 154,435,697(+) G/A
NM_001183.6(ATP6AP1):c.1219G>A (p.Val407Ile)
MISSENSE
915879 Pathogenic: Immunodeficiency 47 154,429,107(+) T/C
NM_001183.6(ATP6AP1):c.221T>C (p.Leu74Pro)
MISSENSE
930248 Uncertain Significance: Immunodeficiency 47 154,433,710(+) G/A
NM_001183.6(ATP6AP1):c.674G>A (p.Arg225His)
MISSENSE
973847 Pathogenic: Immunodeficiency 47 154,433,685(+) T/A
NM_001183.6(ATP6AP1):c.649T>A (p.Tyr217Asn)
MISSENSE
rs11156577 Benign: not provided 154,431,695(+) T/.
NM_001183.6(ATP6AP1):c.289-135=
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATP6AP1 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 ATP6AP1 Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV gain+loss 17666407
esv33784 CNV gain+loss 17666407
esv3575039 CNV loss 25503493
nsv519042 CNV gain 19592680

Variation tolerance for ATP6AP1 Gene

Residual Variation Intolerance Score: 23.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.23; 52.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP6AP1 Gene

Human Gene Mutation Database (HGMD)
ATP6AP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6AP1
Leiden Open Variation Database (LOVD)
ATP6AP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6AP1 Gene

Disorders for ATP6AP1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ATP6AP1 Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

VAS1_HUMAN
  • Immunodeficiency 47 (IMD47) [MIM:300972]: A complex immunodeficiency syndrome characterized by hypogammaglobulinemia, recurrent bacterial infections, defective glycosylation of serum proteins, and liver disease with neonatal jaundice and hepatosplenomegaly. Some patients may also have neurologic features, including seizures, mild intellectual disability, and behavioral abnormalities. Inheritance is X-linked recessive. {ECO:0000269 PubMed:27231034}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ATP6AP1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ATP6AP1: view

No data available for Genatlas for ATP6AP1 Gene

Publications for ATP6AP1 Gene

  1. ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. (PMID: 27231034) Jansen EJ … Lefeber DJ (Nature communications 2016) 3 4 72
  2. Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci. (PMID: 8733135) Chen EY … D'Urso M (Human molecular genetics 1996) 2 3 4
  3. The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels. (PMID: 28296633) Miles AL … Nathan JA (eLife 2017) 3 4
  4. Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects. (PMID: 29127204) Rujano MA … Simons M (The Journal of experimental medicine 2017) 3 4
  5. 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 40

Products for ATP6AP1 Gene

Sources for ATP6AP1 Gene