PIEZO1 - piezo type mechanosensitive ion channel component 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9780

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	Verweise	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	Verweise	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	Verweise	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

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	Verweise
Intra	PIEZO1	Q92508	TFF1	Homo sapiens	P04155	Anti Bait CoIP	24798994

Cross: Cross-species interaction Intra: Intraspecies interaction

PIEZO1 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P86875	FAM38A/PIEZO1 Antibody (YA6568)	WB, IHC-P, ICC/IF	Human, Mouse, Rat

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (14)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-18723	Yoda 1		99.97%	Unkown
HY-P1410	GsMTx4	Inhibitor	99.89%	Unkown
HY-126010	Dooku1	Antagonist	99.90%	Unkown
HY-P1410A	GsMTx4 TFA	Inhibitor	99.85%	Unkown
HY-131018	Jedi2		99.93%	Unkown
HY-162501	Yaddle1	Agonist	99.98%	Unkown
HY-175416	Yoda2	Agonist	99.57%	Unkown
HY-RS10483	PIEZO1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-165607S	MCB-22-174		99.78%	Unkown
HY-RS17433	Piezo1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-181467	KC159	Agonist	99.9%	Unkown
HY-169332	Piezo1 agonist 1-d2		/	Unkown
HY-RS23888	Piezo1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-181743	Piezo1 agonist 2	Agonist	/	Unkown

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
Others	PIEZO1	NCBI