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

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; AllianceGenome:HGNC:636
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: mouse all
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Genomic context

Location:: 9p13.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (33441160..33447593, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (33459659..33466091, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (33441158..33447591, complement)

Chromosome 9 - NC_000009.12 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?

The water channels aquaporin-1 and aquaporin-3 interact with and affect the cell polarity protein Scribble in 3D in vitro models of breast cancer.
Title: The water channels aquaporin-1 and aquaporin-3 interact with and affect the cell polarity protein Scribble in 3D in vitro models of breast cancer.
SCF[FBXW5]-mediated degradation of AQP3 suppresses autophagic cell death through the PDPK1-AKT-MTOR axis in hepatocellular carcinoma cells.
Title: SCF(FBXW5)-mediated degradation of AQP3 suppresses autophagic cell death through the PDPK1-AKT-MTOR axis in hepatocellular carcinoma cells.
The Aquaporin 3 Polymorphism (rs17553719) Is Associated with Sepsis Survival and Correlated with IL-33 Secretion.
Title: The Aquaporin 3 Polymorphism (rs17553719) Is Associated with Sepsis Survival and Correlated with IL-33 Secretion.
AQP3 and AQP9-Contrary Players in Sepsis?
Title: AQP3 and AQP9-Contrary Players in Sepsis?
E-cadherin and aquaporin-3 are downregulated in wound edges of human chronic wounds.
Title: E-cadherin and aquaporin-3 are downregulated in wound edges of human chronic wounds.
AQP3-Dependent PI3K/Akt Modulation in Breast Cancer Cells.
Title: AQP3-Dependent PI3K/Akt Modulation in Breast Cancer Cells.
KLF5-mediated aquaporin 3 activated autophagy to facilitate cisplatin resistance of gastric cancer.
Title: KLF5-mediated aquaporin 3 activated autophagy to facilitate cisplatin resistance of gastric cancer.
Abnormal nuclear expression of aquaporin-3 in lesional and perilesional skin of vitiligo patients: A novel immunohistochemical finding.
Title: Abnormal nuclear expression of aquaporin-3 in lesional and perilesional skin of vitiligo patients: A novel immunohistochemical finding.
A potential link between AQP3 and SLC14A1 gene expression level and clinical parameters of maintenance hemodialysis patients.
Title: A potential link between AQP3 and SLC14A1 gene expression level and clinical parameters of maintenance hemodialysis patients.
SP1-Induced Upregulation of lncRNA LINC00659 Promotes Tumour Progression in Gastric Cancer by Regulating miR-370/AQP3 Axis.
Title: SP1-Induced Upregulation of lncRNA LINC00659 Promotes Tumour Progression in Gastric Cancer by Regulating miR-370/AQP3 Axis.

Submit: New GeneRIF Correction See all GeneRIFs (180)

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

Associated conditions

Description	Tests
GIL BLOOD GROUP MedGen: C1843889 OMIM: 607457 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC34487 (e-PCR)
- UniSTS:75854

Aqp3 (e-PCR), detects polymorphism
- UniSTS:186492

AQP3_2497 (e-PCR)
- UniSTS:280446

SHGC-34032 (e-PCR)
- UniSTS:12176

Aqp3 (e-PCR), detects polymorphism
- UniSTS:209564

RH46411 (e-PCR)
- UniSTS:43480

RH46932 (e-PCR)
- UniSTS:90610

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 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
enables water channel activity	EXP Inferred from Experiment more info	PubMed
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
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 establishment of localization in cell	IEA Inferred from Electronic Annotation more info
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 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 ischemia	IEA Inferred from Electronic Annotation more info
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
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
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 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
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

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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

NG_007476.1 RefSeqGene

Range

5000..11433

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_821

mRNA and Protein(s)

NM_001318144.2 → NP_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/TrEMBL

A0A2R8Y2R4

Related

ENSP00000493516.1, ENST00000645858.1

Conserved Domains (1) summary

cl00200
Location:23 → 164

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_004925.5 → NP_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

A8K843, B2RE16, D3DRL3, O00108, Q6FGT2, Q6FGW6, Q92482

Related

ENSP00000297991.4, ENST00000297991.6

Conserved Domains (1) summary

cd00333
Location:23 → 264

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 ...