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AQP3 aquaporin 3 (Gill blood group) [ Homo sapiens (human) ]

Gene ID: 360, updated on 19-Sep-2021

Summary

Official Symbol
AQP3provided by HGNC
Official Full Name
aquaporin 3 (Gill blood group)provided by HGNC
Primary source
HGNC:HGNC:636
See related
Ensembl:ENSG00000165272 MIM:600170
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GIL; AQP-3
Summary
This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Expression
Biased expression in esophagus (RPKM 430.5), skin (RPKM 178.1) and 9 other tissues See more
Orthologs
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Genomic context

See AQP3 in Genome Data Viewer
Location:
9p13.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (33441154..33447596, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (33441158..33447591, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 752 Neighboring gene aquaporin 7 Neighboring gene uncharacterized LOC105376020 Neighboring gene nucleolar protein 6 Neighboring gene uncharacterized LOC107987061 Neighboring gene microRNA 6851

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?

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 glycerol channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables glycerol channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables urea transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables water channel activity EXP
Inferred from Experiment
more info
PubMed 
enables water channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables water channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables water channel activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within cellular response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to oxygen-glucose deprivation IEA
Inferred from Electronic Annotation
more info
 
involved_in glycerol transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in glycerol transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in odontogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in positive regulation of immune system process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of keratinocyte differentiation TAS
Traceable Author Statement
more info
PubMed 
involved_in renal water absorption IEA
Inferred from Electronic Annotation
more info
 
involved_in renal water homeostasis TAS
Traceable Author Statement
more info
 
involved_in response to calcium ion TAS
Traceable Author Statement
more info
PubMed 
involved_in response to retinoic acid IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to vitamin D TAS
Traceable Author Statement
more info
PubMed 
involved_in urea transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in water transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in water transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in water transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
is_active_in basolateral plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane IC
Inferred by Curator
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
aquaporin-3
Names
aquaglyceroporin-3
aquaporin 3 (GIL blood group)

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.

Genomic

  1. NG_007476.1 RefSeqGene

    Range
    5000..11433
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_821

mRNA and Protein(s)

  1. NM_001318144.2NP_001305073.1  aquaporin-3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, compared to variant 1. The encoded protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AJ493597, AK315760, AL356218, BC013566
    Consensus CDS
    CCDS87649.1
    UniProtKB/Swiss-Prot
    Q92482
    Related
    ENSP00000493516.1, ENST00000645858.1
    Conserved Domains (1) summary
    cl00200
    Location:23164
    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 ...
  2. NM_004925.5NP_004916.1  aquaporin-3 isoform 1

    See identical proteins and their annotated locations for NP_004916.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK315760, BC013566
    Consensus CDS
    CCDS6542.1
    UniProtKB/Swiss-Prot
    Q92482
    Related
    ENSP00000297991.4, ENST00000297991.6
    Conserved Domains (1) summary
    cd00333
    Location:23264
    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 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    33441154..33447596 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001746289.1 RNA Sequence

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