AQP11 aquaporin 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AQP11provided by HGNC
Official Full Name: aquaporin 11provided by HGNC
Primary source: HGNC:HGNC:19940
See related: Ensembl:ENSG00000178301 MIM:609914; AllianceGenome:HGNC:19940
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AQPX1
Summary: Enables glycerol channel activity and water channel activity. Involved in several processes, including glycerol transport; hydrogen peroxide transmembrane transport; and protein homooligomerization. Located in cell surface; endoplasmic reticulum; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in duodenum (RPKM 12.3), small intestine (RPKM 11.2) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q14.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (77589953..77610356)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (77523008..77543410)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (77300998..77321401)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Protective roles of peroxiporins AQP0 and AQP11 in human astrocyte and neuronal cell lines in response to oxidative and inflammatory stressors.
Title: Protective roles of peroxiporins AQP0 and AQP11 in human astrocyte and neuronal cell lines in response to oxidative and inflammatory stressors.
Aquaporin 11 alleviates retinal Muller intracellular edema through water efflux in diabetic retinopathy.
Title: Aquaporin 11 alleviates retinal Müller intracellular edema through water efflux in diabetic retinopathy.
Variants in AQP11 may result in autosomal recessive bilateral cystic renal dysgenesis.
Title: Variants in AQP11 may result in autosomal recessive bilateral cystic renal dysgenesis.
Aquaporin-11 Contributes to TGF-beta1-Induced Endoplasmic Reticulum Stress in Human Visceral Adipocytes: Role in Obesity-Associated Inflammation.
Title: Aquaporin-11 Contributes to TGF-β1-Induced Endoplasmic Reticulum Stress in Human Visceral Adipocytes: Role in Obesity-Associated Inflammation.
Human aquaporin-11 guarantees efficient transport of H2O2 across the endoplasmic reticulum membrane.
Title: Human aquaporin-11 guarantees efficient transport of H(2)O(2) across the endoplasmic reticulum membrane.
Hydrogen peroxide in the ER: A tale of triage.
Title: Hydrogen peroxide in the ER: A tale of triage.
The AQP11 rs2276415 variant may have a role in chronic kidney disease progression in the Chinese population, independent of traditional risk factors
Title: Aquaporin 11 rs2276415 variant and progression of chronic kidney disease.
These results indicated that hepatitis C virus (HCV) infection induced a miR-27b-mediated reduction in AQP11 expression, leading to a modest reduction in HCV genome levels in the cells.
Title: miR-27b-mediated suppression of aquaporin-11 expression in hepatocytes reduces HCV genomic RNA levels but not viral titers.
Aquaporins AQP3, -7, -8, and -11 proteins were found in sperm cells and localized in the head (AQP7), in the middle piece (AQP8) and in the tail (AQP3 and -11) in both the plasma membrane and in intracellular structures.
Title: Aquaporin-Mediated Water and Hydrogen Peroxide Transport Is Involved in Normal Human Spermatozoa Functioning.
Identify rs2276415 as a candidate genetic factor predisposing patients with type 2 diabetes to chronic kidney disease.
Title: Aquaporin 11 variant associates with kidney disease in type 2 diabetic patients.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Weight loss after gastric bypass is associated with a variant at 15q26.1. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-1207 (e-PCR)
- UniSTS:62528

SHGC-31328 (e-PCR)
- UniSTS:47506

RH92330 (e-PCR)
- UniSTS:86440

RH123239 (e-PCR)
- UniSTS:137900

G62578 (e-PCR)
- UniSTS:139705

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycerol channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables water channel activity	IDA Inferred from Direct Assay more info	PubMed
enables water channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables water channel activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in endosomal lumen acidification	IEA Inferred from Electronic Annotation more info
NOT involved_in glycerol transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in glycerol transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hydrogen peroxide transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular oxygen homeostasis	IEA Inferred from Electronic Annotation more info
involved_in intracellular water homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular water homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular water homeostasis	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in monoatomic ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of ERAD pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of epithelial cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of response to endoplasmic reticulum stress	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect protein glycosylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homooligomerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein targeting to membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in proximal tubule development	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in urea transport	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in water transport	IDA Inferred from Direct Assay more info	PubMed
involved_in water transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: aquaporin-11

Names: AQP-11

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001363477.2 → NP_001350406.1 aquaporin-11 isoform 2

Status: VALIDATED

Source sequence(s)

AP000609, AP002789
NM_173039.3 → NP_766627.1 aquaporin-11 isoform 1

See identical proteins and their annotated locations for NP_766627.1

Status: VALIDATED

Source sequence(s)

AB028147, BJ994586, CX867790

Consensus CDS

CCDS8251.1

UniProtKB/Swiss-Prot

Q8NBQ7

Related

ENSP00000318770.3, ENST00000313578.4

Conserved Domains (1) summary

cl00200
Location:46 → 257

MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...