Aliases for AQP11 Gene

Aliases for AQP11 Gene

  • Aquaporin 11 2 3 5
  • Aquaporin-11 3 4
  • AQP-11 3 4
  • AQPX1 3 4

External Ids for AQP11 Gene

Previous GeneCards Identifiers for AQP11 Gene

  • GC11M078840
  • GC11P077523
  • GC11P077027
  • GC11P077028
  • GC11P076978
  • GC11P077300
  • GC11P073599

Summaries for AQP11 Gene

GeneCards Summary for AQP11 Gene

AQP11 (Aquaporin 11) is a Protein Coding gene. Diseases associated with AQP11 include Diabetes Insipidus, Nephrogenic, Autosomal and Impaired Renal Function Disease. Among its related pathways are Aquaporin-mediated transport and Nanog in Mammalian ESC Pluripotency. Gene Ontology (GO) annotations related to this gene include transporter activity and water channel activity. An important paralog of this gene is AQP12A.

UniProtKB/Swiss-Prot Summary for AQP11 Gene

  • Channel protein that facilitates the transport of water, glycerol and hydrogen peroxide across membrane of cell or organelles guaranteeing intracellular homeostasis in several organes like liver, kidney and brain (PubMed:24845055, PubMed:24918044, PubMed:31546170). In situation of stress, participates in endoplasmic reticulum (ER) homeostasis by regulating redox homeostasis through the transport of hydrogen peroxide across the endoplasmic reticulum membrane thereby regulating the oxidative stress through the NADPH oxidase 2 pathway (PubMed:31546170). Plays a role by maintaining an environment suitable for translation or protein foldings in the ER lumen namely by participating to the PKD1 glycosylation processing resulting in regulation of PKD1 membrane trafficking thereby preventing the accumulation of unfolding protein in ER (By similarity). Plays a role in the proximal tubule function by regulating its endosomal acidification (By similarity). May play a role in postnatal kidney development (By similarity).

Tocris Summary for AQP11 Gene

  • Aquaporins (AQPs) are integral membrane proteins that facilitate the transport of water across biological membranes along an osmotic gradient. There have been 13 AQP isoforms (AQP0-AQP12) identified in humans and rodents to date.

Additional gene information for AQP11 Gene

No data available for Entrez Gene Summary , CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AQP11 Gene

Genomics for AQP11 Gene

GeneHancer (GH) Regulatory Elements for AQP11 Gene

Promoters and enhancers for AQP11 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
GH11J077588 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 508.4 +1.0 997 4 NRF1 POLR2G NCOR1 PHF8 ZFX ZNF10 ZIC2 POLR2A KDM6A ZBTB10 AQP11 AAMDC INTS4 CLNS1A GDPD4 lnc-CLNS1A-3
GH11J077469 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10 -116.6 -116627 7.4 HNRNPK ZBTB40 ZNF217 EP300 CTCF ZSCAN5C MYC USF1 PHF8 JUND PAK1 ENSG00000268635 RSF1 GDPD4 ENSG00000241782 ENSG00000254459 AQP11 MYO7A lnc-PAK1-1 lnc-GDPD4-7
GH11J077410 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 9.8 -177.9 -177931 3.3 PHF8 POLR2A ZBTB26 CTCF SAP30 HDAC2 ZNF341 OSR2 DEK MYC PAK1 lnc-GDPD4-7 GDPD4 AQP11 lnc-GDPD4-6
GH11J077557 Enhancer 1 Ensembl ENCODE 11.1 -29.5 -29523 4.7 CTCF JUND FOS TOE1 RAD21 EP300 CTBP1 MYC SMARCC1 SMC3 AQP11 MYO7A AAMDC INTS4 CLNS1A piR-53338-025 RF00066-038 LOC646029 lnc-CLNS1A-3
GH11J077444 Enhancer 1 FANTOM5 ENCODE dbSUPER 10 -143.7 -143692 1.6 EP300 SRF NBN SMARCA5 IKZF1 TBP ZNF664 TBX21 ATF2 ZNF217 PAK1 GDPD4 AQP11 ENSG00000268635 lnc-GDPD4-7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AQP11 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AQP11

Top Transcription factor binding sites by QIAGEN in the AQP11 gene promoter:
  • c-Myc
  • C/EBPalpha
  • Max
  • MIF-1
  • Pax-4a
  • Sox5
  • STAT5B
  • USF-1
  • USF1
  • XBP-1

Genomic Locations for AQP11 Gene

Genomic Locations for AQP11 Gene
chr11:77,589,391-77,610,356
(GRCh38/hg38)
Size:
20,966 bases
Orientation:
Plus strand
chr11:77,300,436-77,321,401
(GRCh37/hg19)
Size:
20,966 bases
Orientation:
Plus strand

Genomic View for AQP11 Gene

Genes around AQP11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AQP11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AQP11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AQP11 Gene

Proteins for AQP11 Gene

  • Protein details for AQP11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBQ7-AQP11_HUMAN
    Recommended name:
    Aquaporin-11
    Protein Accession:
    Q8NBQ7

    Protein attributes for AQP11 Gene

    Size:
    271 amino acids
    Molecular mass:
    30203 Da
    Quaternary structure:
    • Homodimer; disulfide-linked (By similarity). Can also form homomultimer (PubMed:24918044, PubMed:31546170).

neXtProt entry for AQP11 Gene

Post-translational modifications for AQP11 Gene

Other Protein References for AQP11 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AQP11 Gene

Domains & Families for AQP11 Gene

Gene Families for AQP11 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for AQP11 Gene

Blocks:
  • MIP family
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AQP11 Gene

GenScript: Design optimal peptide antigens:
  • Aquaporin-11 (AQP11_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NBQ7

UniProtKB/Swiss-Prot:

AQP11_HUMAN :
  • The NPC motif is essential for oligomerization and water permeability function.
  • Belongs to the MIP/aquaporin (TC 1.A.8) family. AQP11/AQP12 subfamily.
Domain:
  • The NPC motif is essential for oligomerization and water permeability function.
Family:
  • Belongs to the MIP/aquaporin (TC 1.A.8) family. AQP11/AQP12 subfamily.
genes like me logo Genes that share domains with AQP11: view

Function for AQP11 Gene

Molecular function for AQP11 Gene

UniProtKB/Swiss-Prot Function:
Channel protein that facilitates the transport of water, glycerol and hydrogen peroxide across membrane of cell or organelles guaranteeing intracellular homeostasis in several organes like liver, kidney and brain (PubMed:24845055, PubMed:24918044, PubMed:31546170). In situation of stress, participates in endoplasmic reticulum (ER) homeostasis by regulating redox homeostasis through the transport of hydrogen peroxide across the endoplasmic reticulum membrane thereby regulating the oxidative stress through the NADPH oxidase 2 pathway (PubMed:31546170). Plays a role by maintaining an environment suitable for translation or protein foldings in the ER lumen namely by participating to the PKD1 glycosylation processing resulting in regulation of PKD1 membrane trafficking thereby preventing the accumulation of unfolding protein in ER (By similarity). Plays a role in the proximal tubule function by regulating its endosomal acidification (By similarity). May play a role in postnatal kidney development (By similarity).

Phenotypes From GWAS Catalog for AQP11 Gene

Gene Ontology (GO) - Molecular Function for AQP11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0015267 channel activity IBA 21873635
genes like me logo Genes that share ontologies with AQP11: view
genes like me logo Genes that share phenotypes with AQP11: view

Animal Models for AQP11 Gene

MGI Knock Outs for AQP11:
  • Aqp11 Aqp11<tm1Lex>
  • Aqp11 Aqp11<tm1.1(KOMP)Vlcg>

Animal Model Products

  • Taconic Biosciences Mouse Models for AQP11

CRISPR Products

miRNA for AQP11 Gene

miRTarBase miRNAs that target AQP11

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AQP11 Gene

Localization for AQP11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AQP11 Gene

Cytoplasmic vesicle membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Cytoplasm. Cytoplasm, perinuclear region. Note=Localizes mainly to the periphery of lipid droplets (PubMed:24845055). it accumulates partly in mitochondrial-associated endoplasmic reticulum membranes (PubMed:31546170). {ECO:0000269 PubMed:24845055, ECO:0000269 PubMed:31546170}.

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 AQP11 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 3
cytosol 3
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
lysosome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for AQP11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IBA,IEA 21873635
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with AQP11: view

Pathways & Interactions for AQP11 Gene

genes like me logo Genes that share pathways with AQP11: view

Pathways by source for AQP11 Gene

1 Qiagen pathway for AQP11 Gene
  • eNOS Signaling

Interacting Proteins for AQP11 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000318770 Q8NBQ7-AQP11_HUMAN for AQP11 Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for AQP11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 NOT ion transport IDA 16650285
GO:0006833 NOT water transport IDA 16650285
GO:0015793 NOT glycerol transport IDA 16650285
GO:0015840 NOT urea transport IDA 16650285
GO:0048388 endosomal lumen acidification IEA --
genes like me logo Genes that share ontologies with AQP11: view

No data available for SIGNOR curated interactions for AQP11 Gene

Drugs & Compounds for AQP11 Gene

No Compound Related Data Available

Transcripts for AQP11 Gene

mRNA/cDNA for AQP11 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AQP11 Gene

No ASD Table

Relevant External Links for AQP11 Gene

GeneLoc Exon Structure for
AQP11

Expression for AQP11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AQP11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AQP11 Gene

This gene is overexpressed in Adrenal Gland (x7.0) and Liver (x4.0).

Protein differential expression in normal tissues from HIPED for AQP11 Gene

This gene is overexpressed in Fetal ovary (28.1), Fetal testis (12.3), Retina (7.4), and Fetal Liver (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AQP11 Gene



Protein tissue co-expression partners for AQP11 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AQP11

SOURCE GeneReport for Unigene cluster for AQP11 Gene:

Hs.503345

mRNA Expression by UniProt/SwissProt for AQP11 Gene:

Q8NBQ7-AQP11_HUMAN
Tissue specificity: Detected in the sperm head and tail (at protein level) (PubMed:28042826). Expressed in subcutaneous adipocytes (PubMed:24845055). Expressed in testis, kidney and ejaculated spermatozoa (PubMed:19812234).

Evidence on tissue expression from TISSUES for AQP11 Gene

  • Nervous system(4.3)
  • Kidney(2.3)
genes like me logo Genes that share expression patterns with AQP11: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AQP11 Gene

Orthologs for AQP11 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AQP11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AQP11 31 30
  • 99.38 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AQP11 31 30
  • 88.85 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AQP11 31 30
  • 88.81 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Aqp11 17 31 30
  • 85.36 (n)
rat
(Rattus norvegicus)
Mammalia Aqp11 30
  • 84.87 (n)
oppossum
(Monodelphis domestica)
Mammalia AQP11 31
  • 56 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AQP11 31
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves AQP11 31 30
  • 55.51 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AQP11 31
  • 39 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii aqp11 31 30
  • 48.9 (n)
ManyToMany
Species where no ortholog for AQP11 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)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 AQP11 Gene

ENSEMBL:
Gene Tree for AQP11 (if available)
TreeFam:
Gene Tree for AQP11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AQP11: view image

Paralogs for AQP11 Gene

Paralogs for AQP11 Gene

(2) SIMAP similar genes for AQP11 Gene using alignment to 1 proteins:

  • AQP11_HUMAN
genes like me logo Genes that share paralogs with AQP11: view

Variants for AQP11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AQP11 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs2276415 - p.Gly102Ser

Additional dbSNP identifiers (rs#s) for AQP11 Gene

Structural Variations from Database of Genomic Variants (DGV) for AQP11 Gene

Variant ID Type Subtype PubMed ID
dgv1234n100 CNV gain 25217958
esv3626887 CNV loss 21293372
nsv468641 CNV gain 19166990
nsv555452 CNV gain 21841781

Variation tolerance for AQP11 Gene

Residual Variation Intolerance Score: 55.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.11; 80.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AQP11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AQP11

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AQP11 Gene

Disorders for AQP11 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AQP11 Gene - From: DISEASES

Disorder Aliases PubMed IDs
diabetes insipidus, nephrogenic, autosomal
  • diabetes insipidus, nephrogenic, type ii
impaired renal function disease
- elite association - COSMIC cancer census association via MalaCards
Search AQP11 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AQP11

genes like me logo Genes that share disorders with AQP11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AQP11 Gene

Publications for AQP11 Gene

  1. Aquaporin-Mediated Water and Hydrogen Peroxide Transport Is Involved in Normal Human Spermatozoa Functioning. (PMID: 28042826) Laforenza U … Gastaldi G (International journal of molecular sciences 2016) 3 4 54
  2. Human aquaporin-11 is a water and glycerol channel and localizes in the vicinity of lipid droplets in human adipocytes. (PMID: 24845055) Madeira A … Soveral G (Obesity (Silver Spring, Md.) 2014) 3 4 54
  3. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 54
  4. Disruption of aquaporin-11 produces polycystic kidneys following vacuolization of the proximal tubule. (PMID: 16107722) Morishita Y … Ishibashi K (Molecular and cellular biology 2005) 2 3 54
  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 54

Products for AQP11 Gene

Sources for AQP11 Gene