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Aliases for CNN1 Gene

Aliases for CNN1 Gene

  • Calponin 1 2 3
  • Calponin 1, Basic, Smooth Muscle 2 3 5
  • Calponin H1, Smooth Muscle 3 4
  • Basic Calponin 3 4
  • Epididymis Secretory Protein Li 14 3
  • Calponins, Basic 3
  • HEL-S-14 3
  • Sm-Calp 3
  • SMCC 3

External Ids for CNN1 Gene

Previous GeneCards Identifiers for CNN1 Gene

  • GC19P011781
  • GC19P011494
  • GC19P011510
  • GC19P011649
  • GC19P011224

Summaries for CNN1 Gene

GeneCards Summary for CNN1 Gene

CNN1 (Calponin 1) is a Protein Coding gene. Diseases associated with CNN1 include infantile digital fibromatosis and laryngeal small cell carcinoma. Among its related pathways are Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and Myometrial Relaxation and Contraction Pathways. GO annotations related to this gene include actin binding and calmodulin binding. An important paralog of this gene is CNN3.

UniProtKB/Swiss-Prot for CNN1 Gene

  • Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNN1 Gene

Genomics for CNN1 Gene

Regulatory Elements for CNN1 Gene

Promoters for CNN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CNN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CNN1 Gene

Chromosome:
19
Start:
11,538,717 bp from pter
End:
11,550,323 bp from pter
Size:
11,607 bases
Orientation:
Plus strand

Genomic View for CNN1 Gene

Genes around CNN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNN1 Gene

Proteins for CNN1 Gene

  • Protein details for CNN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51911-CNN1_HUMAN
    Recommended name:
    Calponin-1
    Protein Accession:
    P51911
    Secondary Accessions:
    • B2R868
    • B4DUX6
    • O00638
    • Q15416
    • Q8IY93
    • Q99438

    Protein attributes for CNN1 Gene

    Size:
    297 amino acids
    Molecular mass:
    33170 Da
    Quaternary structure:
    • Part of cGMP kinase signaling complex at least composed of ACTA2/alpha-actin, CNN1/calponin H1, PLN/phospholamban, PRKG1 and ITPR1.

    Three dimensional structures from OCA and Proteopedia for CNN1 Gene

    Alternative splice isoforms for CNN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNN1 Gene

Proteomics data for CNN1 Gene at MOPED

Post-translational modifications for CNN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for CNN1 Gene

Domains & Families for CNN1 Gene

Graphical View of Domain Structure for InterPro Entry

P51911

UniProtKB/Swiss-Prot:

CNN1_HUMAN :
  • Contains 1 CH (calponin-homology) domain.
  • Belongs to the calponin family.
  • Contains 3 calponin-like repeats.
Domain:
  • Contains 1 CH (calponin-homology) domain.
Family:
  • Belongs to the calponin family.
Similarity:
  • Contains 3 calponin-like repeats.
genes like me logo Genes that share domains with CNN1: view

No data available for Gene Families for CNN1 Gene

Function for CNN1 Gene

Molecular function for CNN1 Gene

GENATLAS Biochemistry:
calponin,basic,cytoskeletal protein of smooth muscle cells,33kDa,expressed in aorta,actin,calmodulin,tropomyosin binding,down-regulated during dedifferentiation of vascular smooth muscle cell
UniProtKB/Swiss-Prot Function:
Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin, troponin C and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity (By similarity).

Gene Ontology (GO) - Molecular Function for CNN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
genes like me logo Genes that share ontologies with CNN1: view
genes like me logo Genes that share phenotypes with CNN1: view

Animal Models for CNN1 Gene

MGI Knock Outs for CNN1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CNN1 Gene

Localization for CNN1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CNN1 Gene COMPARTMENTS Subcellular localization image for CNN1 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CNN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IDA 8616889
genes like me logo Genes that share ontologies with CNN1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CNN1 Gene

Pathways & Interactions for CNN1 Gene

genes like me logo Genes that share pathways with CNN1: view

Pathways by source for CNN1 Gene

SIGNOR curated interactions for CNN1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CNN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031032 actomyosin structure organization IEA --
genes like me logo Genes that share ontologies with CNN1: view

Drugs & Compounds for CNN1 Gene

(1) Additional Compounds for CNN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CNN1: view

Transcripts for CNN1 Gene

Unigene Clusters for CNN1 Gene

Calponin 1, basic, smooth muscle:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CNN1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1: - - - - -
SP2:
SP3: - -
SP4: -
SP5: - -

Relevant External Links for CNN1 Gene

GeneLoc Exon Structure for
CNN1
ECgene alternative splicing isoforms for
CNN1

Expression for CNN1 Gene

mRNA expression in normal human tissues for CNN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNN1 Gene

This gene is overexpressed in Colon - Sigmoid (x7.0), Esophagus - Muscularis (x5.8), Esophagus - Gastroesophageal Junction (x5.4), and Artery - Tibial (x5.1).

Protein differential expression in normal tissues from HIPED for CNN1 Gene

This gene is overexpressed in Seminal vesicle (9.9), Prostate (9.0), Uterus (8.1), Cardia (8.1), Rectum (6.6), Colon (6.6), and Colon muscle (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CNN1 Gene



SOURCE GeneReport for Unigene cluster for CNN1 Gene Hs.465929

mRNA Expression by UniProt/SwissProt for CNN1 Gene

P51911-CNN1_HUMAN
Tissue specificity: Smooth muscle, and tissues containing significant amounts of smooth muscle.
genes like me logo Genes that share expression patterns with CNN1: view

Protein tissue co-expression partners for CNN1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for CNN1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CNN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CNN1 36
  • 100 (a)
OneToOne
CNN1 35
  • 99.66 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia CNN1 35
  • 91.58 (n)
  • 98.65 (a)
CNN1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 99 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
CNN1 35
  • 91.58 (n)
  • 98.99 (a)
mouse
(Mus musculus)
Mammalia Cnn1 16
Cnn1 36
  • 98 (a)
OneToOne
Cnn1 35
  • 89 (n)
  • 97.64 (a)
oppossum
(Monodelphis domestica)
Mammalia CNN1 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNN1 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cnn1 35
  • 87.09 (n)
  • 97.31 (a)
lizard
(Anolis carolinensis)
Reptilia CNN1 36
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68737 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cnn2 35
  • 73.42 (n)
  • 80.76 (a)
Str.8537 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8817 35
zebrafish
(Danio rerio)
Actinopterygii cnn1a 36
  • 60 (a)
OneToMany
cnn1b 36
  • 71 (a)
OneToMany
LOC572250 35
  • 73.8 (n)
  • 77.49 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000749 35
  • 55.35 (n)
  • 42.59 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5023 35
  • 52.26 (n)
  • 42.59 (a)
Chd64 37
  • 40 (a)
Mp20 36
  • 34 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea cpn-2 36
  • 36 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SCP1 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7148 36
  • 40 (a)
OneToMany
Species with no ortholog for CNN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CNN1 Gene

ENSEMBL:
Gene Tree for CNN1 (if available)
TreeFam:
Gene Tree for CNN1 (if available)

Paralogs for CNN1 Gene

Paralogs for CNN1 Gene

genes like me logo Genes that share paralogs with CNN1: view

Variants for CNN1 Gene

Sequence variations from dbSNP and Humsavar for CNN1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1128516 -- 11,549,330(+) GGGCA(C/G)CAACA reference, missense
rs1128572 -- 11,550,301(+) GGAGC(A/C)CAATA utr-variant-3-prime
rs2052474 -- 11,546,180(-) GGGAC(A/G)CTGAT intron-variant
rs1045662 -- 11,549,797(+) CTAGG(G/T)CCACA utr-variant-3-prime
rs3826802 -- 11,547,799(-) GTCTT(C/T)GCCTA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for CNN1 Gene

Variant ID Type Subtype PubMed ID
nsv519802 CNV Loss 19592680
nsv911062 CNV Loss 21882294
nsv911065 CNV Loss 21882294
nsv509721 CNV Insertion 20534489

Variation tolerance for CNN1 Gene

Residual Variation Intolerance Score: 63.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.14; 23.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CNN1 Gene

HapMap Linkage Disequilibrium report
CNN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNN1 Gene

Disorders for CNN1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CNN1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
infantile digital fibromatosis
  • asymptomatic nodular proliferation of fibrous tissue on the dorsal and lateral aspects of the fingers or toes
laryngeal small cell carcinoma
  • small cell carcinoma of larynx
gastric small cell carcinoma
  • small cell carcinoma of stomach
cervix small cell carcinoma
  • small cell carcinoma of the cervix
- elite association - COSMIC cancer census association via MalaCards
Search CNN1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CNN1

Genetic Association Database (GAD)
CNN1
Human Genome Epidemiology (HuGE) Navigator
CNN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNN1
genes like me logo Genes that share disorders with CNN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CNN1 Gene

Publications for CNN1 Gene

  1. Expression, genomic structure and high resolution mapping to 19p13.2 of the human smooth muscle cell calponin gene. (PMID: 9332369) Miano J.M. … Olson E.N. (Gene 1997) 2 3 4 67
  2. Molecular cloning and gene mapping of human basic and acidic calponins. (PMID: 8526917) Maguchi M. … Hiwada K. (Biochem. Biophys. Res. Commun. 1995) 2 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. Calponin1 inhibits dilated cardiomyopathy development in mice through the I/PKC pathway. (PMID: 24631115) Lu D. … Zhang L. (Int. J. Cardiol. 2014) 3
  5. CHIP-MYTH: a novel interactive proteomics method for the assessment of agonist-dependent interactions of the human I^a88-adrenergic receptor. (PMID: 24561123) Kittanakom S. … Stagljar I. (Biochem. Biophys. Res. Commun. 2014) 3

Products for CNN1 Gene

Sources for CNN1 Gene

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