1. Gene
  2. CNN1 - calponin 1 Gene

CNN1 - calponin 1 Gene

Homo sapiens

Also known as SMCC; Sm-Calp; HEL-S-14

Gene ID: 1264 | Gene type: protein coding

About CNN1

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:11,538,851-11,550,323 (from NCBI)

This gene has 10 transcripts (splice variants), 222 orthologues and 5 paralogues. Biased expression in urinary bladder (RPKM 288.3), endometrium (RPKM 280.5) and 11 other tissues.

Summary

Predicted to enable actin binding activity. Involved in negative regulation of vascular associated smooth muscle cell proliferation. Located in Cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]

CNN1 Products(3)

mRNA Protein Name
NM_001299.6 NP_001290.2 calponin-1 isoform 1
NM_001308341.2 NP_001295270.1 calponin-1 isoform 2
NM_001308342.2 NP_001295271.1 calponin-1 isoform 2

CNN1 Protein Structure

CH

CH: Calponin homology (CH) domain (31 - 130)

Calponin

Calponin: Calponin family repeat (164 - 189)

Calponin

Calponin: Calponin family repeat (204 - 228)

Calponin

Calponin: Calponin family repeat (244 - 268)

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

calponin-1

basic calponin

Related Diseases

Diseases Alias
Subareolar Duct Papillomatosis

Adenoma Of The Nipple

Nipple Benign Neoplasm

Tumor Of Nipple

Marfan Syndrome

MFS

Mfs1

Marfan'S Syndrome

Marfan Syndrome Type 1

Marfan Syndrome, Type I

Mass Phenotype

Contractural Arachnodactyly

Mass Syndrome

Octd

Overlap Connective Tissue Disease

Marfanoid Hypermobility Syndrome

Marfan Disease

Osteogenesis Imperfecta, Type Xv

Osteogenesis Imperfecta Type 15

OI15

Osteogenesis Imperfecta Type Xv

Oi, Type Xv

Osteogenesis Imperfecta 15

Oi Type Xv

Oi-Xv

Aortic Valve Disease 1

Aortic Valve Disease

Bicuspid Aortic Valve

Aortic Valve Disorder

AOVD1

Bav

Bicuspid Aortic Valve Disease

Familial Bicuspid Aortic Valve

Aortic Valve Calcification

Aovd

Aortic Valve, Bicuspid

Aortic Valve, Calcification Of

Aortic Stenosis, Calcific

Familial Bav

Calcific Aortic Stenosis

Calcification Of Aortic Valve

Abnormality Of The Aortic Valve

Aortic Valve Disease, Type 1

Aortic Valve Disease 2

Bicommissural Aortic Valve

Supravalvular Aortic Stenosis

SVAS

Supravalvar Aortic Stenosis

Supravalvar Aortic Stenosis, Eisenberg Type

Aortic Supravalvular Stenosis

Aortic Stenosis, Supravalvular

Supra-Valvular Aortic Stenosis

Stenosis, Aortic Supravalvular

Stenosis, Supravalvular Aortic

Supravalvular Stenosis, Aortic

Aortic Stenosis Supravalvular

Aortic Dissection
Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm

Annuloaortic Ectasia

Familial Thoracic Aortic Aneurysm And Aortic Dissection

Familial Aortic Dissection

Familial Taad

Familial Thoracic Aortic Aneurysm

Congenital Aneurysm Of Ascending Aorta

Familial Aortic Aneurysm

Familial Thoracic Aortic Aneurysm And Dissection

Aortic Aneurysm, Thoracic

AAT1

Faa1

Aortic Dissection, Familial

Aortic Aneurysm, Familial Thoracic

Aneurysm, Thoracic Aortic

Faa

Ftaad

Taa

Taad

Cystic Medial Necrosis Of Aorta

Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

Aortic Aneurysm Thoracic

Familial Aortic Aneurysms

Aneurysm, Aortic, Thoracic, Familial, Type 1

Aneurysm Of Thoracic Aorta

Intrathoracic Aneurysm

Thoracic Aorta Aneurysm

Thoracic Aortic Aneurysm Without Rupture

Thoracic Aneurysm

Thorax Arterial Aneurysm

Thoracic Artery Aneurysm

Thoracic Arterial Aneurysm

Thorax Aneurysm

Thorax Aortic Aneurysm

Dissection Of Thoracic Aorta

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
Mus musculus CNN1 MGD MGI:104979
Bos taurus CNN1 VGNC VGNC:27508
Canis familiaris CNN1 VGNC VGNC:57306
Felis catus CNN1 VGNC VGNC:61021
Rattus norvegicus CNN1 RGD RGD:621883
Macaca mulatta CNN1 VGNC VGNC:71277