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AQP11 aquaporin 11 [ Homo sapiens (human) ]

Gene ID: 282679, updated on 25-Nov-2021

Summary

Official Symbol
AQP11provided by HGNC
Official Full Name
aquaporin 11provided by HGNC
Primary source
HGNC:HGNC:19940
See related
Ensembl:ENSG00000178301 MIM:609914
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
Expression
Biased expression in duodenum (RPKM 12.3), small intestine (RPKM 11.2) and 11 other tissues See more
Orthologs
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Genomic context

See AQP11 in Genome Data Viewer
Location:
11q14.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (77589953..77610356)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (77300998..77321401)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 59 pseudogene Neighboring gene uncharacterized LOC646029 Neighboring gene chloride nucleotide-sensitive channel 1A Neighboring gene uncharacterized LOC107984369 Neighboring gene CRISPRi-validated cis-regulatory element chr11.4537

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Weight loss after gastric bypass is associated with a variant at 15q26.1.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 cellular water homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endosomal lumen acidification IEA
Inferred from Electronic Annotation
more info
 
NOT involved_in glycerol transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in glycerol transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in hydrogen peroxide transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT involved_in 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 oxygen homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein glycosylation in endoplasmic reticulum 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 
involved_in water homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in water homeostasis IMP
Inferred from Mutant Phenotype
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
PubMed 
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 integral component of membrane IEA
Inferred from Electronic Annotation
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
 

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)

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

    Status: VALIDATED

    Source sequence(s)
    AP000609, AP002789
  2. NM_173039.3NP_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:46257
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    77589953..77610356
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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