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CNN1 calponin 1 [ Homo sapiens (human) ]

Gene ID: 1264, updated on 27-Nov-2024

Summary

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Official Symbol
CNN1provided by HGNC
Official Full Name
calponin 1provided by HGNC
Primary source
HGNC:HGNC:2155
See related
Ensembl:ENSG00000130176 MIM:600806; AllianceGenome:HGNC:2155
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SMCC; Sm-Calp; HEL-S-14
Summary
Predicted to enable actin filament binding activity. Involved in negative regulation of vascular associated smooth muscle cell proliferation. Located in cytoskeleton. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in urinary bladder (RPKM 288.3), endometrium (RPKM 280.5) and 11 other tissues See more
Orthologs
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Genomic context

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See CNN1 in Genome Data Viewer
Location:
19p13.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (11538851..11550323)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (11666362..11677836)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11649666..11661138)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ECSIT signaling integrator Neighboring gene ribosomal protein L18a pseudogene 13 Neighboring gene ribosomal protein S12 pseudogene 32 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11648637-11649582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11662408-11663379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14024 Neighboring gene Sharpr-MPRA regulatory region 7075 Neighboring gene elongation factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14025 Neighboring gene uncharacterized LOC124904638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11687946-11688558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11688559-11689170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10121 Neighboring gene acid phosphatase 5, tartrate resistant

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Maternal serum calponin 1 level as a biomarker for the short-term prediction of preterm birth in women with threatened preterm labor. Cetin O, et al. J Matern Fetal Neonatal Med, 2018 Jan. PMID 28068849
  2. Anti-calponin 1 antibodies highlight intracytoplasmic inclusions of infantile digital fibromatosis. Henderson H, et al. Histopathology, 2014 Apr. PMID 24117680
  3. Regulation of PKC autophosphorylation by calponin in contractile vascular smooth muscle tissue. Kim HR, et al. Biomed Res Int, 2013. PMID 24350264, Free PMC Article
  4. Expression of smooth muscle calponin in tumor vessels of human hepatocellular carcinoma and its possible association with prognosis. Sasaki Y, et al. Cancer, 2002 Mar 15. PMID 11920541
  5. Calponin1 inhibits dilated cardiomyopathy development in mice through the εPKC pathway. Lu D, et al. Int J Cardiol, 2014 May 1. PMID 24631115

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Long non-coding RNA MEG3 acts as a suppressor in breast cancer by regulating miR-330/CNN1.
    Title: Long non-coding RNA MEG3 acts as a suppressor in breast cancer by regulating miR-330/CNN1.
  2. Calponin and MUC6 complement inhibin as diagnostic immunomarkers of serous cystadenoma in endoscopic ultrasound-guided aspiration/biopsy specimens.
    Title: Calponin and MUC6 complement inhibin as diagnostic immunomarkers of serous cystadenoma in endoscopic ultrasound-guided aspiration/biopsy specimens.
  3. Studied maternal serum calponin 1 levels in the prediction of delivery within 7 days among pregnancies complicated with threatened preterm labor. Of 73 women included in the study, found the maternal serum calponin 1 level was significantly high in women who delivered within 7 days vs. those who delivered after 7 days.
    Title: Maternal serum calponin 1 level as a biomarker for the short-term prediction of preterm birth in women with threatened preterm labor.
  4. Loss of myoepithelial calponin was specifically associated with gain of the basal marker p63 in adjacent tumor cells.
    Title: Myoepithelial cell differentiation markers in ductal carcinoma in situ progression.
  5. Loss of CNN1 expression is associated with Ovarian Cancer.
    Title: Identification of the Critical Site of Calponin 1 for Suppression of Ovarian Cancer Properties.
  6. CNN1 immunohistochemical staining allows ready recognition of intracytoplasmic inclusions, aiding diagnosis of infantile digital fibromatosis.
    Title: Anti-calponin 1 antibodies highlight intracytoplasmic inclusions of infantile digital fibromatosis.
  7. epsilonPKC/ERK/mTOR pathway activation induced by the rescued expression of CNN1 contributed to the improvement of cardiac dysfunction and pathological changes observed in transgenic mice.
    Title: Calponin1 inhibits dilated cardiomyopathy development in mice through the εPKC pathway.
  8. Calponin knockdown inhibits autophosphorylation.
    Title: Regulation of PKC autophosphorylation by calponin in contractile vascular smooth muscle tissue.
  9. Expression of transforming growth factor-beta (4.3 +/- 1.4 vs 2.6 +/- 2.3, p = 0.01) and calponin (3.7 +/- 0.7 vs 0.6 +/- 1.1, p = 0.05) was lower from infants with vs without a PDA.
    Title: Hypertensive changes within the aortic arch of infants and children with isolated coarctation.
  10. Calponin-1 expression in the uterine smooth muscle tissue of the body and the lower uterine segment of smooth muscle tissues was significantly different.
    Title: [Expression of Calponin-1 and Transgelin in human uterine smooth muscles in non-labor and labor situation].
Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in actomyosin structure organization IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of vascular associated smooth muscle cell proliferation IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in regulation of smooth muscle contraction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoskeleton IDA
Inferred from Direct Assay
more info
 PubMed 
located_in focal adhesion HDA PubMed 

General protein information

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Preferred Names
calponin-1
Names
basic calponin
calponin 1, basic, smooth muscle
calponin H1, smooth muscle
calponins, basic
epididymis secretory protein Li 14

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001299.6 → NP_001290.2  calponin-1 isoform 1

    See identical proteins and their annotated locations for NP_001290.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer isoform (1).
    Source sequence(s)
    BC022015
    Consensus CDS
    CCDS12263.1
    UniProtKB/Swiss-Prot
    B2R868, B4DUX6, O00638, P51911, Q15416, Q8IY93, Q99438
    UniProtKB/TrEMBL
    Q53FP8, V9HWA5
    Related
    ENSP00000252456.1, ENST00000252456.7
    Conserved Domains (2) summary
    pfam00402
    Location:204 → 227
    Calponin; Calponin family repeat
    cl27700
    Location:18 → 188
    Calponin; Calponin family repeat

  2. NM_001308341.2 → NP_001295270.1  calponin-1 isoform 2

    See identical proteins and their annotated locations for NP_001295270.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate exon in the 5' coding region, which results in use of a downstream start codon compared to variant 1. It encodes isoform 2, which has a shorter N-terminus than isoform 1. Variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AK301888, BC036307, BG718473
    Consensus CDS
    CCDS77238.1
    UniProtKB/TrEMBL
    B7Z7E1, Q53FP8
    Related
    ENSP00000442031.1, ENST00000535659.6
    Conserved Domains (2) summary
    COG5199
    Location:1 → 138
    SCP1; Calponin [Cytoskeleton]
    pfam00402
    Location:154 → 177
    Calponin; Calponin family repeat

  3. NM_001308342.2 → NP_001295271.1  calponin-1 isoform 2

    See identical proteins and their annotated locations for NP_001295271.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate exon in the 5' coding region, which results in use of a downstream start codon compared to variant 1. It encodes isoform 2, which has a shorter N-terminus than isoform 1. Variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AK223234, AK316406
    Consensus CDS
    CCDS77238.1
    UniProtKB/TrEMBL
    B7Z7E1, Q53FP8
    Related
    ENSP00000468259.1, ENST00000592923.5
    Conserved Domains (2) summary
    COG5199
    Location:1 → 138
    SCP1; Calponin [Cytoskeleton]
    pfam00402
    Location:154 → 177
    Calponin; Calponin family repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    11538851..11550323
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026289.2 → XP_016881778.1  calponin-1 isoform X1

  2. XM_005259741.3 → XP_005259798.1  calponin-1 isoform X2

    See identical proteins and their annotated locations for XP_005259798.1

    UniProtKB/TrEMBL
    B7Z7E1, Q53FP8
    Conserved Domains (2) summary
    COG5199
    Location:1 → 138
    SCP1; Calponin [Cytoskeleton]
    pfam00402
    Location:154 → 177
    Calponin; Calponin family repeat

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    11666362..11677836
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319812.1 → XP_054175787.1  calponin-1 isoform X2

    UniProtKB/TrEMBL
    B7Z7E1

  2. XM_054319811.1 → XP_054175786.1  calponin-1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P51911.2 GenPept UniProtKB/Swiss-Prot:P51911

Gene LinkOut

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