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

Gene ID: 360, updated on 14-Oct-2018

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; Vega:OTTHUMG00000019769
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

Genomic context

See AQP3 in Genome Data Viewer
Location:
9p13.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (33441154..33447633, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (33441152..33447631, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene nuclear transcription factor, X-box binding 1 Neighboring gene uncharacterized LOC105376018 Neighboring gene uncharacterized LOC105376020 Neighboring gene aquaporin 7 Neighboring gene uncharacterized LOC107987061 Neighboring gene microRNA 6851 Neighboring gene nucleolar protein 6

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 Jun 15 11:32:44 2016

Bibliography

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glycerol channel activity EXP
Inferred from Experiment
more info
PubMed 
glycerol channel activity IDA
Inferred from Direct Assay
more info
PubMed 
transporter activity NAS
Non-traceable Author Statement
more info
PubMed 
water channel activity EXP
Inferred from Experiment
more info
PubMed 
water channel activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cellular response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to oxygen-glucose deprivation IEA
Inferred from Electronic Annotation
more info
 
excretion TAS
Traceable Author Statement
more info
PubMed 
glycerol transport IEA
Inferred from Electronic Annotation
more info
 
odontogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
positive regulation of immune system process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of keratinocyte differentiation TAS
Traceable Author Statement
more info
PubMed 
renal water absorption IEA
Inferred from Electronic Annotation
more info
 
renal water homeostasis TAS
Traceable Author Statement
more info
 
response to calcium ion TAS
Traceable Author Statement
more info
PubMed 
response to retinoic acid IDA
Inferred from Direct Assay
more info
PubMed 
response to vitamin D TAS
Traceable Author Statement
more info
PubMed 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
urea transport IEA
Inferred from Electronic Annotation
more info
 
water transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IC
Inferred by Curator
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    4960..11439
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318144.1NP_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, BF437236, DA976040
    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_004925.4NP_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, BF437236, DA976040
    Consensus CDS
    CCDS6542.1
    UniProtKB/Swiss-Prot
    Q92482
    Related
    ENSP00000297991.4, OTTHUMP00000021206, ENST00000297991.5, OTTHUMT00000052055
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    33441154..33447633 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001746289.1 RNA Sequence

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