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CNN1 calponin 1, basic, smooth muscle [ Homo sapiens (human) ]

Gene ID: 1264, updated on 26-Jun-2015
Official Symbol
CNN1provided by HGNC
Official Full Name
calponin 1, basic, smooth muscleprovided by HGNC
Primary source
HGNC:HGNC:2155
See related
Ensembl:ENSG00000130176; HPRD:02884; MIM:600806; Vega:OTTHUMG00000182033
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
Orthologs
See CNN1 in Epigenomics, MapViewer
Location:
19p13.2-p13.1
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (11538764..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 signalling integrator Neighboring gene ribosomal protein L18a pseudogene 13 Neighboring gene ribosomal protein S12 pseudogene 32 Neighboring gene ELF1 homolog, elongation factor 1 Neighboring gene uncharacterized LOC105369211

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog
  • Endothelin, organism-specific biosystem (from WikiPathways)
    Endothelin, organism-specific biosystemEndothelin-1 is a bicyclic 21 amino acid peptide, produced primarily in the endothelium. It is a potent stimulus of long-lasting and persistent vasoconstriction. It also has a role as a stimulus of i...
  • Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
    Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...
Products Interactant Other Gene Complex Source Pubs Description

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
 
Process Evidence Code Pubs
actomyosin structure organization IEA
Inferred from Electronic Annotation
more info
 
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 IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
calponin-1
Names
calponin-1
basic calponin
calponin H1, smooth muscle
calponins, basic
epididymis secretory protein Li 14

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_001299.5NP_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)
    AC008481, BC022015, BG718473
    Consensus CDS
    CCDS12263.1
    UniProtKB/Swiss-Prot
    P51911
    UniProtKB/TrEMBL
    V9HWA5
    Related
    ENSP00000252456, OTTHUMP00000268154, ENST00000252456, OTTHUMT00000458854
    Conserved Domains (3) summary
    pfam00402
    Location:164189
    Calponin; Calponin family repeat
    COG5199
    Location:18188
    SCP1; Calponin [Cytoskeleton]
    cd00014
    Location:30127
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
  2. NM_001308341.1NP_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)
    AC008481, AK301888, BC036307, BG718473
  3. NM_001308342.1NP_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)
    AC008481, AK223234, AK316406, BG718473
    Consensus CDS
    CCDS77238.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

    Range
    11538764..11550323
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527690.1XP_011525992.1  

    Conserved Domains (3) summary
    pfam00402
    Location:166191
    Calponin; Calponin family repeat
    COG5199
    Location:31190
    SCP1; Calponin [Cytoskeleton]
    cd00014
    Location:32129
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
  2. XM_011527691.1XP_011525993.1  

    Related
    ENSP00000468259, OTTHUMP00000268155, ENST00000592923, OTTHUMT00000458855
    Conserved Domains (2) summary
    pfam00402
    Location:114139
    Calponin; Calponin family repeat
    cd00014
    Location:177
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
  3. XM_011527689.1XP_011525991.1  

    Conserved Domains (3) summary
    pfam00402
    Location:231256
    Calponin; Calponin family repeat
    COG5199
    Location:96255
    SCP1; Calponin [Cytoskeleton]
    cd00014
    Location:97194
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
  4. XM_005259741.2XP_005259798.1  

    See identical proteins and their annotated locations for XP_005259798.1

    UniProtKB/TrEMBL
    B7Z7E1
    Conserved Domains (2) summary
    pfam00402
    Location:114139
    Calponin; Calponin family repeat
    cd00014
    Location:177
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    11649645..11661204
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)