AQP10 aquaporin 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AQP10provided by HGNC
Official Full Name: aquaporin 10provided by HGNC
Primary source: HGNC:HGNC:16029
See related: Ensembl:ENSG00000143595 MIM:606578; AllianceGenome:HGNC:16029
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: AQPA_HUMAN
Summary: This gene encodes a member of the aquaglyceroporin family of integral membrane proteins. Members of this family function as water-permeable channels in the epithelia of organs that absorb and excrete water. This protein was shown to function as a water-selective channel, and could also permeate neutral solutes such as glycerol and urea. [provided by RefSeq, Jul 2008]
Expression: Biased expression in duodenum (RPKM 31.0) and small intestine (RPKM 22.0) See more
Orthologs: all
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Genomic context

Location:: 1q21.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (154321093..154325325)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (153458259..153462492)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (154293569..154297801)

Chromosome 1 - NC_000001.11 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 role of water coordination in the pH-dependent gating of hAQP10.
Title: The role of water coordination in the pH-dependent gating of hAQP10.
in human adipocytes, the decreased pH observed during lipolysis (fat burning) correlates with increased glycerol release and stimulation of aquaglyceroporin AQP10.
Title: Human adipose glycerol flux is regulated by a pH gate in AQP10.
Expression of CXCL4 and aquaporin 3 and 10 mRNAs in middle ear effusion is associated with the pathophysiology of otitis media with effusion.
Title: Expression of CXCL4 and aquaporin 3 and 10 mRNAs in patients with otitis media with effusion.
the human aquaglyceroporins, i.e., AQP3, AQP7, AQP9 and AQP10 can act as silicon transporters in both Xenopus laevis oocytes and HEK-293 cells.
Title: Aquaporins Mediate Silicon Transport in Humans.
Aquaporin-10 is expressed exclusively in the adipocytes, which is particularly important for the maintenance of normal or low glycerol contents inside the adipocyte, thus protecting humans from obesity.
Title: Aquaporin-10 represents an alternative pathway for glycerol efflux from human adipocytes.
the presence of at least one glycosylated protein within each tetramer is sufficient to convey an enhanced structural stability to the remaining hAQP10 protomers of the tetramer.
Title: Glycosylation increases the thermostability of human aquaporin 10 protein.
study unveiled the uniquely dual functional characteristic of hAQP10 as a carrier/channel for solute transport, providing a novel insight into its operation mechanism, which would help further elucidate its physiological role
Title: Dual functional characteristic of human aquaporin 10 for solute transport.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
differential polarity and selective targeting of AQP3 and AQP10 in the intestinal epithelial cells is influenced by amino acid signal motifs.
Title: Compartmentalization of aquaporins in the human intestine.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

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

NoName (e-PCR)
- UniSTS:482063

NoName (e-PCR)
- UniSTS:481786

NoName (e-PCR)
- UniSTS:489981

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 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	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 cellular response to acidic pH	IDA Inferred from Direct Assay 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 protein homotetramerization	IDA Inferred from Direct Assay more info	PubMed
involved_in response to toxic substance	IDA Inferred from Direct Assay 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

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
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
located_in lipid droplet	IEA Inferred from Electronic Annotation 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-10

Names: AQP-10; aquaglyceroporin-10; small intestine aquaporin

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.

mRNA and Protein(s)

NM_080429.3 → NP_536354.2 aquaporin-10

See identical proteins and their annotated locations for NP_536354.2

Status: REVIEWED

Source sequence(s)

AL162591, AL354980

Consensus CDS

CCDS1065.1

UniProtKB/Swiss-Prot

Q5VYD3, Q5VYD4, Q8NG70, Q96PS8

UniProtKB/TrEMBL

B2RC92

Related

ENSP00000318355.3, ENST00000324978.8

Conserved Domains (1) summary

cl00200
Location:13 → 265

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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

154321093..154325325

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011510104.3 → XP_011508406.1 aquaporin-10 isoform X1

UniProtKB/TrEMBL

B2RC92

Conserved Domains (1) summary

cl00200
Location:13 → 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 ...
XM_047433547.1 → XP_047289503.1 aquaporin-10 isoform X2