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AQP9 aquaporin 9 [ Homo sapiens (human) ]

Gene ID: 366, updated on 13-Mar-2020

Summary

Official Symbol
AQP9provided by HGNC
Official Full Name
aquaporin 9provided by HGNC
Primary source
HGNC:HGNC:643
See related
Ensembl:ENSG00000103569 MIM:602914
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
SSC1; AQP-9; T17287; HsT17287
Summary
The aquaporins are a family of water-selective membrane channels. This gene encodes a member of a subset of aquaporins called the aquaglyceroporins. This protein allows passage of a broad range of noncharged solutes and also stimulates urea transport and osmotic water permeability. This protein may also facilitate the uptake of glycerol in hepatic tissue . The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Expression
Biased expression in liver (RPKM 174.7), appendix (RPKM 48.0) and 3 other tissues See more
Orthologs

Genomic context

See AQP9 in Genome Data Viewer
Location:
15q21.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (58138169..58185911)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (58430374..58478110)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene aldehyde dehydrogenase 1 family member A2 Neighboring gene calponin 2 pseudogene Neighboring gene uncharacterized LOC283665 Neighboring gene MT-ND4L pseudogene 23 Neighboring gene MT-ND6 pseudogene 23 Neighboring gene ribosomal protein L28 pseudogene 4 Neighboring gene Sharpr-MPRA regulatory region 5540

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

NHGRI GWAS Catalog

Description
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of aquaporin 9 (AQP9) in peptide-treated PBMCs PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
amine transport IDA
Inferred from Direct Assay
more info
PubMed 
canalicular bile acid transport IEA
Inferred from Electronic Annotation
more info
 
carboxylic acid transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
carboxylic acid transport TAS
Traceable Author Statement
more info
PubMed 
cellular response to cAMP IEP
Inferred from Expression Pattern
more info
PubMed 
excretion TAS
Traceable Author Statement
more info
PubMed 
glycerol transport IDA
Inferred from Direct Assay
more info
PubMed 
glycerol transport TAS
Traceable Author Statement
more info
 
polyol transport IDA
Inferred from Direct Assay
more info
PubMed 
purine nucleobase transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
purine nucleobase transport IDA
Inferred from Direct Assay
more info
PubMed 
pyrimidine nucleobase transport IDA
Inferred from Direct Assay
more info
PubMed 
pyrimidine-containing compound transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
response to mercury ion IDA
Inferred from Direct Assay
more info
PubMed 
response to organic substance IDA
Inferred from Direct Assay
more info
PubMed 
response to osmotic stress TAS
Traceable Author Statement
more info
PubMed 
urea transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
water homeostasis NAS
Non-traceable Author Statement
more info
PubMed 
water transport IDA
Inferred from Direct Assay
more info
PubMed 
water transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
aquaporin-9
Names
aquaglyceroporin-9
small solute channel 1

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_011975.2 RefSeqGene

    Range
    5173..52703
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001320635.2NP_001307564.1  aquaporin-9 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' codingregion which results in a frameshift compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC025431, AC066616
    Conserved Domains (1) summary
    cl00200
    Location:24165
    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_001320636.1NP_001307565.1  aquaporin-9 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate 5' most exon which results in a distinct 5' UTR and the use of a downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC066616, DC296768
    Consensus CDS
    CCDS81887.1
    UniProtKB/TrEMBL
    H0YK62
    Related
    ENSP00000452673.1, ENST00000558772.5
    Conserved Domains (1) summary
    cl00200
    Location:1201
    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 ...
  3. NM_020980.5NP_066190.2  aquaporin-9 isoform 1

    See identical proteins and their annotated locations for NP_066190.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB008775, AC066616
    Consensus CDS
    CCDS10165.1
    UniProtKB/Swiss-Prot
    O43315
    Related
    ENSP00000219919.4, ENST00000219919.9
    Conserved Domains (1) summary
    cl00200
    Location:1266
    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.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    58138169..58185911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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