CNN1 calponin 1 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Loss of CNN1 expression is associated with Ovarian Cancer.
Title: Identification of the Critical Site of Calponin 1 for Suppression of Ovarian Cancer Properties.
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.
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.
Calponin knockdown inhibits autophosphorylation.
Title: Regulation of PKC autophosphorylation by calponin in contractile vascular smooth muscle tissue.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78572 (e-PCR)
- UniSTS:19470

Cnn1 (e-PCR), detects polymorphism
- UniSTS:516205

STS-N93364 (e-PCR)
- UniSTS:81124

ksks67 (e-PCR)
- UniSTS:514533

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 more info	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)

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
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
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