AQP9 aquaporin 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AQP9provided by HGNC
Official Full Name: aquaporin 9provided by HGNC
Primary source: HGNC:HGNC:643
See related: Ensembl:ENSG00000103569 MIM:602914; AllianceGenome:HGNC:643
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: mouse all
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Genomic context

Location:: 15q21.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (58138169..58185911)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (55940466..55988212)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (58430368..58478110)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AQP3 and AQP9-Contrary Players in Sepsis?
Title: AQP3 and AQP9-Contrary Players in Sepsis?
The Implication of Aquaporin-9 in the Pathogenesis of Preterm Premature Rupture of Membranes.
Title: The Implication of Aquaporin-9 in the Pathogenesis of Preterm Premature Rupture of Membranes.
Aquaporin 9 induction in human iPSC-derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency.
Title: Aquaporin 9 induction in human iPSC-derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency.
AQP9 and ZAP70 as immune-related prognostic biomarkers suppress proliferation, migration and invasion of laryngeal cancer cells.
Title: AQP9 and ZAP70 as immune-related prognostic biomarkers suppress proliferation, migration and invasion of laryngeal cancer cells.
Clinical implication of aquaporin 9 in non-small cell lung cancer patients: its expression and relationship with clinical features and prognosis.
Title: Clinical implication of aquaporin 9 in non-small cell lung cancer patients: its expression and relationship with clinical features and prognosis.
Increased maternal serum aquaporin-9 expression in pregnancies complicated with early-onset preeclampsia.
Title: Increased maternal serum aquaporin-9 expression in pregnancies complicated with early-onset preeclampsia.
[Association study of single nucleotide polymorphisms of AQP7 and AQP9 genes with type 2 diabetes mellitus among ethnic Han Chinese population].
Title: [Association study of single nucleotide polymorphisms of AQP7 and AQP9 genes with type 2 diabetes mellitus among ethnic Han Chinese population].
Increased maternal serum aquaporin 9 levels in pregnancies complicated with gestational diabetes mellitus.
Title: Increased maternal serum aquaporin 9 levels in pregnancies complicated with gestational diabetes mellitus.
Maternal physical activity significantly alters the placental transcriptome.
Title: Maternal physical activity significantly alters the placental transcriptome.
Different expression and localization of aquaporin 7 and aquaporin 9 in granulosa cells, oocytes, and embryos of patients with polycystic ovary syndrome and the negatively correlated relationship with insulin regulation.
Title: Different expression and localization of aquaporin 7 and aquaporin 9 in granulosa cells, oocytes, and embryos of patients with polycystic ovary syndrome and the negatively correlated relationship with insulin regulation.

Submit: New GeneRIF Correction See all GeneRIFs (74)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC61180P1 (e-PCR)
- UniSTS:273414

ATC-P10583 (e-PCR)
- UniSTS:8017

RH98507 (e-PCR)
- UniSTS:84065

D15S1283 (e-PCR)
- UniSTS:17294

D15S198 (e-PCR), detects polymorphism
- UniSTS:20663

RH1645 (e-PCR)
- UniSTS:67520

AQP9_51 (e-PCR)
- UniSTS:276164

SHGC-2193 (e-PCR)
- UniSTS:87519

SHGC-150628 (e-PCR)
- UniSTS:173283

RH119218 (e-PCR)
- UniSTS:138727

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables glycerol channel activity	EXP Inferred from Experiment more info	PubMed
enables glycerol channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycerol channel activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables purine nucleobase transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables pyrimidine nucleobase transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables urea channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables urea transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables urea transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables water channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables water channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in amine transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in canalicular bile acid transport	IEA Inferred from Electronic Annotation more info
involved_in cellular response to cAMP	IEP Inferred from Expression Pattern more info	PubMed
involved_in glycerol transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycerol transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in glycerol transmembrane transport	TAS Traceable Author Statement more info
involved_in purine nucleobase transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in purine nucleobase transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in pyrimidine nucleobase transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in pyrimidine-containing compound transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in response to pain	IEA Inferred from Electronic Annotation more info
involved_in urea transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in water transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in water transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: aquaporin-9

Names: aquaglyceroporin-9; small solute channel 1

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

NG_011975.2 RefSeqGene

Range

5173..52703

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001320635.2 → NP_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:24 → 165

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 ...
NM_001320636.1 → NP_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

B4DT52, H0YK62

Related

ENSP00000452673.1, ENST00000558772.5

Conserved Domains (1) summary

cl00200
Location:1 → 201

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 ...
NM_020980.5 → NP_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, Q9NP32

UniProtKB/TrEMBL

Q6FGT0

Related

ENSP00000219919.4, ENST00000219919.9

Conserved Domains (1) summary

cl00200
Location:1 → 266

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 ...