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CNN1 calponin 1 [ Homo sapiens (human) ]

Gene ID: 1264, updated on 5-Aug-2022

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 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
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Genomic context

See CNN1 in Genome Data Viewer
Location:
19p13.2
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (11538851..11550323)
110 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 H3K4me1 hESC enhancer GRCh37_chr19:11662408-11663379 Neighboring gene elongation factor 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
located_in focal adhesion HDA PubMed 

General protein information

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_001299.6NP_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
    P51911, Q99438
    UniProtKB/TrEMBL
    V9HWA5
    Related
    ENSP00000252456.1, ENST00000252456.7
    Conserved Domains (2) summary
    pfam00402
    Location:204227
    Calponin; Calponin family repeat
    cl27700
    Location:18188
    Calponin; Calponin family repeat
  2. NM_001308341.2NP_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/Swiss-Prot
    P51911
    UniProtKB/TrEMBL
    B7Z7E1
    Related
    ENSP00000442031.1, ENST00000535659.6
    Conserved Domains (2) summary
    COG5199
    Location:1138
    SCP1; Calponin [Cytoskeleton]
    pfam00402
    Location:154177
    Calponin; Calponin family repeat
  3. NM_001308342.2NP_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:1138
    SCP1; Calponin [Cytoskeleton]
    pfam00402
    Location:154177
    Calponin; Calponin family repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017026289.2XP_016881778.1  calponin-1 isoform X1

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

    See identical proteins and their annotated locations for XP_005259798.1

    UniProtKB/TrEMBL
    B7Z7E1
    Conserved Domains (2) summary
    COG5199
    Location:1138
    SCP1; Calponin [Cytoskeleton]
    pfam00402
    Location:154177
    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)