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CNN1 calponin 1 [ Homo sapiens (human) ]

Gene ID: 1264, updated on 1-Aug-2020

Summary

Official Symbol
CNN1provided by HGNC
Official Full Name
calponin 1provided by HGNC
Primary source
HGNC:HGNC:2155
See related
Ensembl:ENSG00000130176 MIM:600806
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
Expression
Biased expression in urinary bladder (RPKM 288.3), endometrium (RPKM 280.5) and 11 other tissues See more
Orthologs

Genomic context

See CNN1 in Genome Data Viewer
Location:
19p13.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (11538775..11550323)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11649579..11661139)

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 elongation factor 1 homolog Neighboring gene zinc finger protein 627 Neighboring gene acid phosphatase 5, tartrate resistant

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

NHGRI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA 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
actin binding IEA
Inferred from Electronic Annotation
more info
 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actomyosin structure organization IEA
Inferred from Electronic Annotation
more info
 
negative regulation of vascular smooth muscle cell proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of smooth muscle contraction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    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
    pfam00402
    Location:154177
    Calponin; Calponin family repeat
    cl27700
    Location:1138
    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
    pfam00402
    Location:154177
    Calponin; Calponin family repeat
    cl27700
    Location:1138
    Calponin; Calponin family repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    11538775..11550323
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451362.1XP_024307130.1  calponin-1 isoform X2

    Conserved Domains (2) summary
    pfam00402
    Location:206229
    Calponin; Calponin family repeat
    cl27700
    Location:31190
    Calponin; Calponin family repeat
  2. XM_024451361.1XP_024307129.1  calponin-1 isoform X2

    Conserved Domains (2) summary
    pfam00402
    Location:206229
    Calponin; Calponin family repeat
    cl27700
    Location:31190
    Calponin; Calponin family repeat
  3. XM_005259741.2XP_005259798.1  calponin-1 isoform X3

    See identical proteins and their annotated locations for XP_005259798.1

    UniProtKB/TrEMBL
    B7Z7E1
    Conserved Domains (2) summary
    pfam00402
    Location:154177
    Calponin; Calponin family repeat
    cl27700
    Location:1138
    Calponin; Calponin family repeat
  4. XM_017026289.1XP_016881778.1  calponin-1 isoform X1

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