AQP5 - aquaporin 5 Gene

Also Known as PPKB; AQP-5

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 362

About AQP5

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:49,961,872-49,965,682 (from NCBI)

This gene has 2 transcripts (splice variants), 408 orthologues, 11 paralogues and is associated with 3 phenotypes. Biased expression in salivary gland (RPKM 99.1), testis (RPKM 61.9) and 1 other tissue.

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]

AQP5 Products (1)

mRNA Protein Name
NM_001651.4 NP_001642.1 aquaporin-5
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
18768791 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
enables water channel activity IDA
IDA: Inferred from direct assay
12801959 GOA
Biological Process GO Annotation Evidence References Source
involved in carbon dioxide transport IDA
IDA: Inferred from direct assay
19273840 GOA
involved in cellular hypotonic response IDA
IDA: Inferred from direct assay
26569106 GOA
involved in odontogenesis IEP
IEP: Inferred from expression pattern
12522663 GOA
involved in pancreatic juice secretion IEP
IEP: Inferred from expression pattern
12801959 GOA
involved in protein homotetramerization IDA
IDA: Inferred from direct assay
18768791 GOA
involved in water transport IDA
IDA: Inferred from direct assay
18768791 GOA
Cellular Component GO Annotation Evidence References Source
located in apical plasma membrane IDA
IDA: Inferred from direct assay
12801959 GOA
located in cytoplasmic vesicle membrane IDA
IDA: Inferred from direct assay
26569106 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
26569106 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AQP5 Protein Structure

MIP

MIP: Major intrinsic protein (5 - 221)

  • 0
  • 100
  • 200
  • 265 a.a.
Protein Preferred Names Protein Names

aquaporin-5

AQP5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
AQP5 P55064 KRT40 Homo sapiens Q6A162 25416956
Intra
AQP5 P55064 HNRNPK Homo sapiens P61978 25416956
Intra
AQP5 P55064 HNRNPK Homo sapiens P61978 25416956
Intra
AQP5 P55064 MDFI Homo sapiens Q99750 19060904
Intra
AQP5 P55064 MDFI Homo sapiens Q99750 19060904
Intra
AQP5 P55064 MDFI Homo sapiens Q99750 16189514
Intra
AQP5 P55064 CREB3 Homo sapiens O43889-2 31515488
Intra
AQP5 P55064 ATP6V0A2 Homo sapiens Q9Y487 33961781
Intra
AQP5 P55064 KRT31 Homo sapiens Q15323 25416956
Intra
AQP5 P55064 NOTCH2NLA Homo sapiens Q7Z3S9 25416956
Intra
AQP5 P55064 AQP5 Homo sapiens P55064 18768791
Intra
AQP5 P55064 ATP1A2 Homo sapiens P50993 33961781
Intra
AQP5 P55064 AQP5 Homo sapiens P55064
GMS
18768791
Intra
AQP5 P55064 ATP6V0A1 Homo sapiens Q93050 33961781
Intra
AQP5 P55064 CREB3 Homo sapiens O43889
Y2H
21516116
Cross: Cross-species interaction Intra: Intraspecies interaction

AQP5 Antibodies

Cat. No. Product Name Application Reactivity
HY-P86785 Aquaporin 5 Antibody (YA6478) WB, IHC-P, IF-Tissue, mIHC Human, Mouse

Related Diseases

Diseases Alias
Palmoplantar Keratoderma, Bothnian Type
  • PPKB

  • Diffuse Palmoplantar Keratoderma, Bothnian Type

  • Bothnian Type Palmoplantar Keratoderma

  • Keratoderma, Palmoplantar, Bothnian Type

  • Palmoplantar Keratoderma, Nonepidermolytic

Palmoplantar Keratoderma, Nonepidermolytic
  • Nonepidermolytic Palmoplantar Keratoderma

  • NEPPK

  • Tylosis

  • Unna-Thost Syndrome

  • Keratoderma, Palmoplantar, Diffuse

  • Ppkne

  • Keratoderma, Nonepidermolytic Palmoplantar

  • Diffuse Nonepidermolytic Palmomplantar Keratoderma

  • Thost-Unna Syndrome

  • Non-Epidermolytic Palmoplantar Keratoderma

  • Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type

  • Diffuse Palmoplantar Keratoderma, Bothnian Type

  • Krt1-Related Diffuse Nonepidermolytic Keratoderma

  • Krt1-Related Diffuse Neppk

  • Keratoderma, Palmoplantar, Non-Epidermolytic

  • Nonepidermolytic Unna-Thost Disease

  • Non-Epidermolytic Unna-Thost Disease

  • Keratoderma, Palmoplantar, Nonepidermolytic

  • Hyperkeratosis

Dry Eye Syndrome
  • Dry Eye Syndromes

  • Dry Eye Disease

  • Tear Film Insufficiency

  • Xerophthalmia

Aplasia Of Lacrimal And Salivary Glands
  • ALSG

  • Congenital Absence Of Lacrimal Puncta And Salivary Glands

  • Xerostomia

  • Absence Of Salivary Glands

  • Parotid Aplasia Or Hypoplasia

  • Congenital Absence Of Lacrimal Puncta Or Salivary Glands

  • Alsg - [Aplasia Of Lacrimal Or Salivary Glands]

Pulmonary Edema
Neuromyelitis Optica
  • Devic Disease

  • Devic Syndrome

  • Neuromyelitis Optica Spectrum Disorder

  • Devic'S Disease

  • Devic'S Syndrome

  • Devic'S Neuromyelitis Optica

  • Nmo

  • Nmo Spectrum Disorder

  • Neuromyelitis Optica Spectrum Disorders

  • Devic Neuromyelitis Optica

  • Optic-Spinal Ms

  • Opticospinal Ms

  • Nmosd

  • Opticospinal Multiple Sclerosis

  • Devic

  • Ophthalmoneuromyelitis

  • Optic Neuromyelitis

  • Optic Neuroencephalomyelopathy

  • Nmo - [Neuromyelitis Optica]

  • Optic Neuritis With Demyelination

Brain Edema
  • Cerebral Edema

  • Intracranial Swelling

  • Wet Brain

Sjogren Syndrome
  • Sicca Syndrome

  • Sjogren'S Syndrome

  • Sjögren Syndrome

  • Sjogren-Gougerot Syndrome

  • Keratoconjunctivitis Sicca

  • Sjögren'S Syndrome

  • Xerodermosteosis

  • Dacryosialoadenopathia Atrophicans

  • Gougerot-Houwer-Sjogren Syndrome

  • Gougerot-Sjogren Syndrome

  • Keratoconjunctivitis Sicca-Xerostomia

  • Secreto-Inhibitor-Xerodermostenosis

  • Primary Sjogren Syndrome

  • Primary Sjogren-Gougerot Syndrome

  • Sjogrens Syndrome Primary

  • Sjogrens Syndrome

  • Dry Eye Syndromes

Dacryoadenitis
  • Dacryocystitis

Accommodative Spasm
  • Spasm Of Accommodation

  • Cyclospasm

  • Ciliary Muscle Spasm

  • Ciliary Body Spasm

Lacrimal Apparatus Disease
  • Lacrimal Apparatus Diseases

Sialolithiasis
  • Sialolith

  • Stone Of Salivary Gland Or Duct

  • Salivary Gland Calculi

  • Salivary Gland Stone

  • Calculus Of Salivary Gland Or Duct

  • Calculus Of Salivary Gland

  • Salivary Calculus

  • Salivary Gland Calculus

  • Salivary Stone

  • Salivary Duct Calculi

  • Sialodocholithiasis

Acrokeratoderma, Hereditary Papulotranslucent
  • Hereditary Papulotranslucent Acrokeratoderma

Keratoconus
  • Kc

  • Conical Cornea

  • Noninflammatory Corneal Thining

  • Bulging Cornea

  • Cornea Conical

  • Acquired Conus Of Cornea

Sialadenitis
  • Sialoadenitis

  • Adenitis, Salivary Gland

  • Salivary Gland Inflammation

  • Salivary Gland Adenitis

  • Sialitis

  • Inflammation Of Salivary Gland

  • Inflammation Of Salivary Duct Or Gland

  • Salivary Glandular Adenitis

  • Sialoangiitis

  • Sialoangitis

  • Sialodochitis

Keratoconjunctivitis Sicca
  • Kcs

  • Dry Eye Syndromes

  • Keratitis Sicca

  • Xerophthalmia

Diffuse Pulmonary Fibrosis
Autoimmune Disease Of Exocrine System
Nephrogenic Diabetes Insipidus
  • Vasopressin-Resistant Diabetes Insipidus

  • Diabetes Insipidus, Nephrogenic

  • Diabetes Insipidus Nephrogenic

  • Congenital Nephrogenic Diabetes Insipidus

  • Adh Resistant Diabetes Insipidus

  • Diabetes Insipidus Nephrogenic X-Linked

  • Diabetes Insipidus Nephrogenic Type 1

  • Adh-Resistant Diabetes Insipidus

  • Diabetes Insipidus Renalis

  • Ndi

  • Renal Diabetes Insipidus

  • Familial Nephrogenic Diabetes

  • Antidiuretic-Hormone-Resistant Diabetes Insipidus

  • Adiuretin-Resistant Diabetes Insipidus

  • Ndi - [Nephrogenic Diabetes Insipidus]

  • Diabetes Tenuifluus

  • Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus

  • Hereditary Nephrogenic Diabetes Insipidus

  • Familial Nephrogenic Diabetes Insipidus

  • Primary Nephrogenic Diabetes Insipidus

Presbyopia
  • Subnormal Accommodation

  • Accommodation Insufficiency Of Old Age

Xerophthalmia
  • Conjunctival Xerosis

Potocki-Shaffer Syndrome
  • Proximal 11p Deletion Syndrome

  • Chromosome 11p11.2 Deletion Syndrome

  • Pss

  • 11p11.2 Deletion

  • P11pds

  • Defect11 Syndrome

  • Deletion Of Chromosome 11p11.2

  • POSHS

Salivary Gland Disease
  • Salivary Gland Disorders

  • Salivary Gland Diseases

  • Non-Neoplastic Salivary Gland Disease

  • Non-Neoplastic Salivary Gland Disorder

  • Disorder Of Salivary Gland

  • Lesion Of Salivary Gland Nos

Cataract
  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities

Asthma
  • Chronic Obstructive Asthma

  • Asthma, Diminished Response To Antileukotriene Treatment In

  • Bronchial Hyperreactivity

  • Asthma, Susceptibility To

  • Asthma, Bronchial

  • Asthma, Protection Against

  • Asthma, Nocturnal, Susceptibility To

  • Nocturnal Asthma

  • Asthma-Related Traits

  • Asthma-Related Traits, Susceptibility To

  • Asthma, Nocturnal

  • Chronic Obstructive Asthma With Acute Exacerbation

  • Chronic Obstructive Asthma With Status Asthmaticus

  • Exercise Induced Asthma

  • Exercise-Induced Asthma

  • Bronchial Asthma

  • Asthma, Exercise-Induced

  • Idiosyncratic Asthma

  • Unspecified Asthma With Acute Exacerbation

  • Asthma, Unspecified, With Stated Status Asthmaticus

  • Status Asthmaticus Nos

  • Acute Severe Asthma

  • Acute Severe Bronchial Asthma

  • Status Asthma

  • Status Post Asthmaticus

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris AQP5 VGNC VGNC:57418
Mus musculus AQP5 MGD MGI:106215
Felis catus AQP5 VGNC VGNC:83497
Rattus norvegicus AQP5 RGD RGD:2144
Macaca mulatta AQP5 VGNC VGNC:108321
Bos taurus AQP5 VGNC VGNC:26048
Others AQP5 NCBI