AQP5 aquaporin 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AQP5provided by HGNC
Official Full Name: aquaporin 5provided by HGNC
Primary source: HGNC:HGNC:638
See related: Ensembl:ENSG00000161798 MIM:600442; AllianceGenome:HGNC:638
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: PPKB; AQP-5
Summary: Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq, Jul 2008]
Expression: Biased expression in salivary gland (RPKM 99.1), testis (RPKM 61.9) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.12

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (49961872..49965682)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (49924863..49928671)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (50355655..50359465)

Chromosome 12 - NC_000012.12 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?

A Role for Aquaporin-5 Variants in Regulation of the Actin Cytoskeleton in Non-Epidermolytic Palmoplantar Keratoderma.
Title: A Role for Aquaporin-5 Variants in Regulation of the Actin Cytoskeleton in Non-Epidermolytic Palmoplantar Keratoderma.
Involvement of aquaporin 5 and Na-K-2Cl cotransporter 1 in the pathogenesis of primary focal hyperhidrosis: evidence from the primary sweat gland cell culture.
Title: Involvement of aquaporin 5 and Na-K-2Cl cotransporter 1 in the pathogenesis of primary focal hyperhidrosis: evidence from the primary sweat gland cell culture.
AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma.
Title: AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma.
Involvement of aquaporin 5 in Sjogren's syndrome.
Title: Involvement of aquaporin 5 in Sjögren's syndrome.
The Role of Aquaporin 5 (AQP5) in Lung Adenocarcinoma: A Review Article.
Title: The Role of Aquaporin 5 (AQP5) in Lung Adenocarcinoma: A Review Article.
The cell polarity protein Scribble is downregulated by the water channel aquaporin-5 in breast cancer cells.
Title: The cell polarity protein Scribble is downregulated by the water channel aquaporin-5 in breast cancer cells.
Aquaporin 5 (AQP5) expression in breast cancer and its clinicopathological characteristics.
Title: Aquaporin 5 (AQP5) expression in breast cancer and its clinicopathological characteristics.
AQP5 complements LGR5 to determine the fates of gastric cancer stem cells through regulating ULK1 ubiquitination.
Title: AQP5 complements LGR5 to determine the fates of gastric cancer stem cells through regulating ULK1 ubiquitination.
Forensic Diagnosis of Freshwater or Saltwater Drowning Using the Marker Aquaporin 5: An Immunohistochemical Study.
Title: Forensic Diagnosis of Freshwater or Saltwater Drowning Using the Marker Aquaporin 5: An Immunohistochemical Study.
AQP5-1364A/C Polymorphism Affects AQP5 Promoter Methylation.
Title: AQP5-1364A/C Polymorphism Affects AQP5 Promoter Methylation.

Submit: New GeneRIF Correction See all GeneRIFs (139)

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
Palmoplantar keratoderma, Bothnian type MedGen: C1838359 OMIM: 600231 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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction 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

Process	Evidence Code	Pubs
involved_in camera-type eye morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in carbon dioxide transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in carbon dioxide transport	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular hypotonic response	IDA Inferred from Direct Assay more info	PubMed
involved_in odontogenesis	IEP Inferred from Expression Pattern more info	PubMed
involved_in pancreatic juice secretion	IEP Inferred from Expression Pattern more info	PubMed
involved_in protein homotetramerization	IDA Inferred from Direct Assay more info	PubMed
involved_in saliva secretion	IEA Inferred from Electronic Annotation more info
involved_in 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
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basal plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in microvillus	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-5

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_033883.1 RefSeqGene

Range

5377..9187

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001651.4 → NP_001642.1 aquaporin-5

See identical proteins and their annotated locations for NP_001642.1

Status: REVIEWED

Source sequence(s)

AC025154, BC032946, BP272197, BX095029

Consensus CDS

CCDS8793.1

UniProtKB/Swiss-Prot

P55064, Q6FGW8

Related

ENSP00000293599.5, ENST00000293599.7

Conserved Domains (1) summary

pfam00230
Location:4 → 221

MIP; Major intrinsic protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

49961872..49965682

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005268838.3 → XP_005268895.1 aquaporin-5 isoform X1

See identical proteins and their annotated locations for XP_005268895.1

Conserved Domains (1) summary

cl00200
Location:4 → 204

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 ...