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

Gene ID: 360, updated on 30-Apr-2015
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; HPRD:08970; 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. [provided by RefSeq, Aug 2011]
Orthologs
See AQP3 in MapViewer
Location:
9p13
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 microRNA 6851 Neighboring gene nucleolar protein 6 (RNA-associated) Neighboring gene uncharacterized LOC105376021

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glycerol channel activity IDA
Inferred from Direct Assay
more info
PubMed 
transporter activity NAS
Non-traceable Author Statement
more info
PubMed 
urea transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
water channel activity EXP
Inferred from Experiment
more info
 
water channel activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cellular water homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
 
excretion TAS
Traceable Author Statement
more info
PubMed 
glycerol transport IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
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 TAS
Traceable Author Statement
more info
 
transport NAS
Non-traceable Author Statement
more info
PubMed 
urea transmembrane transport IBA
Inferred from Biological aspect of Ancestor
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 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
aquaporin-3
Names
aquaporin-3
aquaglyceroporin-3
aquaporin 3 (GIL blood group)

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_004925.4NP_004916.1  aquaporin-3

    See identical proteins and their annotated locations for NP_004916.1

    Status: REVIEWED

    Source sequence(s)
    AK315760, BC013566, BF437236, DA976040
    Consensus CDS
    CCDS6542.1
    UniProtKB/Swiss-Prot
    Q92482
    Related
    ENSP00000297991, OTTHUMP00000021206, ENST00000297991, 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 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011517864.1XP_011516166.1  

    See identical proteins and their annotated locations for XP_011516166.1

    Conserved Domains (1) summary
    cl00200
    Location:23127
    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 ...

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    33440929..33447408
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)