1. Gene
  2. PIEZO1 - piezo type mechanosensitive ion channel component 1 Gene

PIEZO1 - piezo type mechanosensitive ion channel component 1 Gene

Homo sapiens

Also known as DHS; Mib; LMPH3; FAM38A; LMPHM6

Gene ID: 9780 | Gene type: protein coding

About PIEZO1

Cytogenetic location: 16q24.3 Genomic coordinates (GRCh38): 16:88,715,338-88,785,220 (from NCBI)

Ubiquitous expression in fat (RPKM 30.4), lung (RPKM 14.8) and 24 other tissues.

Summary

The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]

PIEZO1 Products(1)

mRNA Protein Name
NM_001142864.4 NP_001136336.2 piezo-type mechanosensitive ion channel component 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables mechanosensitive monoatomic cation channel activity IDA
IDA: Inferred from direct assay
25955826 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
24798994 GOA
Biological Process GO Annotation Evidence Reference Source
involved in positive regulation of cell-cell adhesion mediated by integrin IMP
IMP: Inferred from mutant phenotype
20016066 GOA
involved in positive regulation of integrin activation IMP
IMP: Inferred from mutant phenotype
20016066 GOA
involved in positive regulation of myotube differentiation IMP
IMP: Inferred from mutant phenotype
29799007 GOA
Cellular Component GO Annotation Evidence Reference Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
20016066 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

PIEZO1 Protein Structure

Piezo_RRas_bdg

Piezo_RRas_bdg: Piezo non-specific cation channel, R-Ras-binding domain (2110 - 2520)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2400
  • 2521 a.a.
Protein Preferred Names Protein Names

piezo-type mechanosensitive ion channel component 1

family with sequence similarity 38, member A

PIEZO1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
PIEZO1 Q92508 TFF1 Homo sapiens P04155 24798994
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema

Dehydrated Hereditary Stomatocytosis

Hereditary Xerocytosis

Xerocytosis, Hereditary

Pshk1

Pseudohyperkalemia Edinburgh

Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema

DHS1

Dhs

Hereditary Desiccytosis

Dehydrated Hereditary Stomatocytosis 1

Desiccytosis, Hereditary

Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak

Pseudohyperkalemia Familial 1, Due To Red Cell Leak

Desiccytosis Hereditary

Xerocytosis Hereditary

Familial Pseudohyperkalemia 1 Due To Red Cell Leak

Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema

Xerocytosis

Lymphatic Malformation 6

LMPHM6

Generalized Lymphatic Dysplasia Of Fotiou

Lymphedema, Hereditary, Iii

Lymphedema, Hereditary, Iii, Formerly

Lmph3, Formerly

Lmph3

Lymphedema, Hereditary, 3

Hereditary Stomatocytosis

Hereditary Stomatocytic Disease

Immune Hydrops Fetalis

Ihf

Immune Hf

Immune Fetal Edema

Immune Fetal Hydrops

Hemolytic Anemia

Anemia, Hemolytic

Anemia Hemolytic

Anaemia Due To Other Disorders Of Glutathione Metabolism

Chronic Non Spherocytic Anaemia

G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

Favism Anaemia

Haemolytic Anaemia Due Tog6pd Deficiency

Favism

Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect

Glutamate-Cysteine Ligase Deficiency

Gamma-Glutamylcysteine Synthetase Deficiency

Hemolytic Anemia Due To Gamma-Glutamylcysteine Synthetase Deficiency

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To

Anemia, Congenital Dyserythropoietic, Type Ia

Congenital Dyserythropoietic Anemia Type I

Cda I

CDAN1A

Congenital Dyserythropoietic Anemia Type 1

Congenital Dyserythropoietic Anemia Type Ia

Congenital Dyserythropoietic Anemia, Type I

Anemia, Congenital Dyserythropoietic, Type I

Cda Type 1

Cda Type I

Cda Ia

Dyserythropoietic Anemia, Congenital Type 1

Anemia, Congenital Dyserythropoietic, Type 1a

Dyserythropoietic Anemia, Congenital, Type Ia

Cda, Type Ia

Congenital Dyserythropoietic Anaemia Type 1

Congenital Dyserythropoietic Anaemia Type I

Anemia, Dyserythropoietic, Congenital Type 1

Type I Congenital Dyserythropoietic Anemia

Anemia, Congenital Dyserythropoietic, 1a

Anemia, Dyserythropoietic, Congenital, Type Ia

Hereditary Lymphedema Ia

Lmph1a

Lymphedema, Hereditary, Ia

Milroy Disease

Primary Lymphedema

Lymphedema Primary

Pyruvate Kinase Deficiency Of Red Cells

Pyruvate Kinase Deficiency

Pk Deficiency

Pyruvate Kinase Deficiency Of Erythrocyte

Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency

Pyruvate Kinase Deficiency Of Erythrocytes

Pkd

PKRD

Hereditary Non-Spherocytic Hemolytic Anemia Due To Pyruvate Kinase Deficiency

Hnsha

Pyruvate Kinase-Deficient Hemolytic Anemia

Red Cell Pyruvate Kinase Deficiency

Deficiency Of Pyruvate Kinase

Anemia, Hemolytic, Congenital Nonspherocytic

Congenital Nonspherocytic Hemolytic Anemia

Hereditary Non-Spherocytic Hemolytic Anemia

Hereditary Nonspherocytic Hemolytic Anemia

Anemia, Hemolytic, Congenital Nonspherocytic

Congenital Nonspherocytic Hemolytic Anaemia

Hereditary Nonspherocytic Hemolytic Anaemia

Hnsha

Varicose Veins

Varices

Varix

Venous Ectasia

Venous Varices

Varicosity

Cerebral Cavernous Malformations

Cerebral Cavernous Malformation

Cavernous Malformations Of Cns And Retina

Cerebral Cavernous Malformation 1

Cavernous Angiomatous Malformations

Cerebral Capillary Malformations

CCM

Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations

Familial Cavernous Angioma

Cavernous Angioma

Familial Cerebral Cavernous Malformation

Cerebral Cavernous Malformations 1

Cavernous Angioma, Familial

Cam

Cerebral Cavernous Malformations-1

Cavernoma

Central Nervous System Cavernous Hemangioma

Cerebral Cavernous Hemangioma

Familial Cavernous Hemangioma

Familial Cavernous Malformation

Familial Cerebral Cavernous Angioma

Intracerebral Cavernous Hemangioma

CCM1

Cavernous Hemangioma Of The Brain

Cerebral Cavernoma

Cerebral Cavernous Malformations, Type 1

Hemangioma, Cavernous, Central Nervous System

Hemangioma, Cavernous

Angioma, Cavernous

Hennekam Syndrome

Hennekam Lymphangiectasia Lymphedema Syndrome

Hennekam Lymphangiectasia-Lymphedema Syndrome

Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome

Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome

Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome

Lymphangiectasies And Lymphedema Hennekam Type

Generalized Lymphatic Dysplasia

Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome

Arthrogryposis, Distal, Type 3

Gordon Syndrome

DA3

Distal Arthrogryposis Type 3

Arthrogryposis Multiplex Congenita, Distal, Type Iia

Camptodactyly, Cleft Palate, And Clubfoot

Camptodactyly-Cleft Palate-Clubfoot Syndrome

Distal Arthrogryposis Multiplex Congenita Type Iia

Arthrogryposis Distal Type 3

Distal Arthrogryposis Type Iia

Arthrogryposis, Distal, 3

Pseudohypoaldosteronism, Type Ii

Erythrocytosis, Familial, 8

Diphosphoglycerate Mutase Deficiency Of Erythrocyte

ECYT8

Bisphosphoglycerate Mutase Deficiency

Bisphosphoglyceromutase Deficiency

Bpgm Deficiency

Dpgm Deficiency

Deficiency Of Bisphosphoglycerate Mutase

Familial Erythrocytosis 8

Hemolytic Anemia Due To Diphosphoglycerate Mutase Deficiency

Erythrocytosis Due To Bisphosphoglycerate Mutase Deficiency

Erythrocytosis, Familial, Type 8

Overhydrated Hereditary Stomatocytosis

Ohs

Potassium Sodium Disorder Of Erythrocyte

OHST

Stomatocytosis I

Potassium-Sodium Disorder Of Erythrocyte

Stomatocytosisiohst

Hereditary, Overhydrated, Cation-Leak Stomatocytosis

Overhydrated Cation Leak Stomatocytosis

Stomatocytosis, Overhydrated Hereditary

Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia

Spherocytic Anemia

Congenital Spherocytosis

Spherocytosis, Type 1

Minkowski Chauffard Syndrome

Hs

Minkowski-Chauffard Disease

Minkowski-Chauffard Syndrome

Spherocytosis Hereditary

Spherocytosis, Hereditary

Anemia, Hereditary Spherocytic Hemolytic

Arthrogryposis, Distal, Type 5

Oculomelic Amyoplasia

Distal Arthrogryposis Type 5

Distal Arthrogryposis Type Iib

DA5

Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities

Daiib

Distal Arthrogryposis Type 2b

Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome

Distal Arthrogryposis With Ophthalmoplegia

Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome

Arthrogryposis, Distal, Type Iib

Da2b

Freeman-Sheldon Syndrome Variant

Sheldon-Hall Syndrome

Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities

Arthrogryposis Ophthalmoplegia Retinopathy

Arthrogryposis, Distal, 5

Arthrogryposis, Distal, Type 2b

Hereditary Elliptocytosis

Congenital Elliptocytosis

Ovalocytosis

Elliptocytosis, Hereditary

He

Elliptocytosis Hereditary

Congenital Ovalocytosis

Elliptocytosis

Hereditary Elliptocytosis With Infantile Poikilocytosis

Hereditary Ovalocytosis

Oval Erythrocytosis

He - [Hereditary Elliptocytosis]

Elliptocytosis Anaemia

Anemia, Congenital Dyserythropoietic, Type Ii

Congenital Dyserythropoietic Anemia Type Ii

CDAN2

Cda Ii

Hereditary Erythroblastic Multinuclearity With Positive Acidified-Serum Test

Cda Type Ii

Congenital Dyserythropoietic Anemia Type 2

Hereditary Erythroblastic Multinuclearity With A Positive Acidified-Serum Test

Sec23b-Cdg

Congenital Dyserythropoietic Anemia, Type Ii

Dyserythropoietic Anemia, Hempas Type

Hempas

Cda Type 2

Dyserythropoietic Anemia, Congenital, Type Ii

Cda, Type Ii

Congenital Dyserythropoietic Anaemia Type 2

Congenital Dyserythropoietic Anaemia Type Ii

Anemia, Dyserythropoietic, Congenital Type 2

Hempas Anemia

Dyserythropoietic Anemia, Congenital Type 2

Anemia, Congenital Dyserythropoietic, 2

Dyserythropoietic Anemia Hempas Type

Anemia, Dyserythropoietic Congenital, Type Ii

Anemia, Dyserythropoietic, Congenital, Type Ii

Anemia, Congenital Dyserythropoietic, Type Iv

CDAN4

Congenital Dyserythropoietic Anemia Type Iv

Congenital Dyserythropoietic Anemia Type 4

Cda Iv

Cda Due To Klf1 Mutation

Cda Type 4

Cda Type Iv

Congenital Dyserythropoietic Anemia Due To Klf1 Mutation

Cda, Type Iv

Dyserythropoietic Anemia, Congenital, Type Iv

Congenital Dyserythropoietic Anaemia Due To Klf1 Mutation

Congenital Dyserythropoietic Anaemia Type 4

Congenital Dyserythropoietic Anaemia Type Iv

Anemia, Congenital Dyserythropoietic, 4

Anemia, Dyserythropoietic Congenital, Type Iv

Anemia, Dyserythropoietic, Congenital, Type Iv

Hereditary Lymphedema

Milroy Disease

Malaria

Malaria, Susceptibility To

Malaria, Resistance To

Malaria, Cerebral

Cerebral Malaria

Malaria, Severe, Susceptibility To

Malaria, Severe, Resistance To

Malaria, Cerebral, Susceptibility To

Induced Malaria

Malaria, Vivax, Protection Against

Malaria, Severe

Malaria, Cerebral, Reduced Risk Of

Malaria, Protection Against

Resistance To Malaria Due To G6pd Deficiency

Malaria Due To G6pd Deficiency

Malarial Encephalitis

CM

Malaria Cerebral

Susceptibility To Malaria

Acute Pernicious Fever

Aestivo-Autumnal Fever

Aestivo Autumnal Malaria

Chagres Fever

Continued Malaria Fever

Estivo-Autumnal Fever

Estivo-Autumnal Malaria

Estivo-Autumnal Malarial Fever

Falciparum Fever

Malignant Tertian Fever

Malignant Tertian Malaria

Pernicious Intermittent Fever

Pernicious Malaria

Quotidian Malaria

Subtertian Fever

Subtertian Malaria Fever

Subtertian Malignant Tertian Malaria

Tropical Malaria

Algid Malaria

Bilious Haemoglobinuric Fever

Black Water Fever

Blackwater Fever

Malarial Blackwater Fever

Severe Malarial Falciparum

West African Fever

Malarial Haematinuria

Haemoglobinuric Fever

Haemoglobinuric Malaria

Severe Plasmodium Falciparum Malaria

Malarial Haemoglobinuria

Malarial Haematuria

Falciparum Malaria [Malignant Tertian]

Malaria Tropica

Malarial Shock

Chagres Virus Disease

Malignant Malaria

Mtm - [Malignant Tertian Malaria]

Tm -[Malignant Tertian Malaria]

Panama Fever

St - [Subtertian Malaria]

Malarial Quotidian

Benign Tertian Malaria

Tertian Ague

Vivax Fever

Plasmodium Vivax Malaria Nos

Btm - [Benign Tertian Malaria]

Bt - [Benign Tertian Malaria]

Vivax Malaria

Benign Tertian Vivax Malaria

Tertian Malaria

Quartan Malaria

Quartan Ague

Quartan Fever

Plasmodium Malariae Malaria Nos

Quartan Malarial

Malaria By Plasmodium Malariae

Malariae Malaria

Ovale Tertian Malaria

Plasmodium Ovale Fever

Malaria Fever By Plasmodium Ovale

Ovale Malaria

Malaria By Plasmodium Ovale

Malarial Ovale

Marsh Fever

Remittent Congestive Fever

Coastal Fever

Remittent Gastric Fever

Miasmatic Fever

Congestive Remittent Fever

Intermittent Fever

Jungle Fever

Paludism

Cameroon Fever

Ague

Corsican Fever

Intermittent Bilious Fever

Disease Due To Plasmodiidae

Malarial Fever

Plasmodiosis

Remittent Fever

Roman Fever

Malaria Fever Nos

Malaria Nos

Paludal Fever

Clinically Diagnosed Malaria

Clinically Diagnosed Malaria Without Parasitological Confirmation

Congestive Fever

Malarial Cachexia

Marsh Cachexia

Paludal Cachexia

Recurrent Malaria

Remittent Malaria

Hereditary Lymphedema I

Lymphedema

Hereditary Lymphedema Type I

Congenital Primary Lymphedema

Lmph1

Milroy Disease

Nonne-Milroy Lymphedema

Pcl

Lymphedema Hereditary Type 1

Congenital Hemolytic Anemia

Anemia Hemolytic Congenital

Anemia, Hemolytic, Congenital

Congenital Hemolytic Anaemia

Hereditary Hemolytic Anaemia

Hereditary Hemolytic Anemia

Erythrocytosis, Familial, 7

ECYT7

Erythrocytosis 7

Familial Erythrocytosis 7

Erythrocytosis, Alpha-Globin Type

Polycythemia, Alpha-Globin Type

Alpha-Globin Type Erythrocytosis

Alpha-Globin Type Polycythemia

Lymphedema-Distichiasis Syndrome

Lymphedema With Distichiasis

Lymphedema-Distichiasis Syndrome With Renal Disease And Diabetes Mellitus

LPHDST

Distichiasis-Lymphedema Syndrome

Lymphedema Distichiasis Syndrome

Hereditary Lymphedema-Distichiasis Syndrome

Lymphedema Distichiasis

Glucosephosphate Dehydrogenase Deficiency

G6pd Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency

Deficiency Of Glucose-6-Phosphate Dehydrogenase

Glucose 6 Phosphate Dehydrogenase Deficiency

Deficiency Of G-6pd

G6pdd

Osteogenesis Imperfecta, Type Iii

Osteogenesis Imperfecta Type Iii

OI3

Oi, Type Iii

Osteogenesis Imperfecta Type 3

Oi Type Iii

Oi Type 3

Progressive Deforming Osteogenesis Imperfecta

Severe Osteogenesis Imperfecta

Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae

Progressively Deforming Osteogenesis Imperfecta With Normal Sclera

Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae

Progressively Deforming Oi

Osteogenesis Imperfecta 3

Oi-Iii

Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae

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
Rattus norvegicus PIEZO1 RGD RGD:1308822
Macaca mulatta PIEZO1 VGNC VGNC:75880
Bos taurus PIEZO1 VGNC VGNC:32864
Canis familiaris PIEZO1 VGNC VGNC:44528
Mus musculus PIEZO1 MGD MGI:3603204