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    CNN1 calponin 1 [ Homo sapiens (human) ]

    Gene ID: 1264, updated on 3-Apr-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 binding activity. Involved in negative regulation of vascular associated smooth muscle cell proliferation. Located in cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in urinary bladder (RPKM 288.3), endometrium (RPKM 280.5) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19p13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (11538851..11550323)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (11666362..11677836)
    105.20220307 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. Identification of the Critical Site of Calponin 1 for Suppression of Ovarian Cancer Properties. Yamane T, et al. Anticancer Res, 2015 Nov. PMID 26504022
    3. Calponin1 inhibits dilated cardiomyopathy development in mice through the εPKC pathway. Lu D, et al. Int J Cardiol, 2014 May 1. PMID 24631115
    4. 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
    5. Anti-calponin 1 antibodies highlight intracytoplasmic inclusions of infantile digital fibromatosis. Henderson H, et al. Histopathology, 2014 Apr. PMID 24117680

    See all (51) 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)

    Genotypes

    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
    		  
    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_2023_10

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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