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    CALM1 calmodulin 1 [ Homo sapiens (human) ]

    Gene ID: 801, updated on 22-Jan-2024

    Summary

    Official Symbol
    CALM1provided by HGNC
    Official Full Name
    calmodulin 1provided by HGNC
    Primary source
    HGNC:HGNC:1442
    See related
    Ensembl:ENSG00000198668 MIM:114180; AllianceGenome:HGNC:1442
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    caM; CAM2; CAM3; CAMB; CAMC; CAMI; PHKD; CPVT4; DD132; LQT14; PHKD1; CALML2; CAMIII
    Summary
    This gene encodes one of three calmodulin proteins which are members of the EF-hand calcium-binding protein family. Calcium-induced activation of calmodulin regulates and modulates the function of cardiac ion channels. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.A missense mutation in the CALM1 gene has been associated with ventricular tachycardia.[provided by RefSeq, May 2020]
    Expression
    Ubiquitous expression in brain (RPKM 439.8), esophagus (RPKM 93.6) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CALM1 in Genome Data Viewer
    Location:
    14q32.11
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (90396502..90408268)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (84621229..84632993)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (90862846..90874612)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene proteasome 26S subunit, ATPase 1 Neighboring gene NRDE-2, necessary for RNA interference, domain containing Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90757747-90758946 Neighboring gene Sharpr-MPRA regulatory region 379 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90792221-90792722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:90792723-90793222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8875 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6006 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:90819601-90819793 Neighboring gene uncharacterized LOC105370618 Neighboring gene ribosomal protein L21 pseudogene 11 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:90848618-90849145 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:90849146-90849672 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:90849673-90850199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8879 Neighboring gene Sharpr-MPRA regulatory region 5900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6010 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8881 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90870785-90871984 Neighboring gene MPRA-validated peak2228 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:90905675-90906438 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8882 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr14:90920205-90920822 and GRCh37_chr14:90920823-90921440 Neighboring gene long intergenic non-protein coding RNA 2317 Neighboring gene long intergenic non-protein coding RNA 642

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env The calmodulin-binding domains in HIV-1 gp160 are involved in Fas-mediated apoptosis PubMed
    env The carboxyl-terminal domains (residues 768-788 and 826-854) of HIV-1 gp160 bind to calmodulin (CaM) PubMed
    Envelope transmembrane glycoprotein gp41 env The carboxyl terminus (amino acid residues 768-788 and 828-855) of HIV-1 gp41 binds efficiently to purified calmodulin (CaM) and inhibits in vitro CaM-mediated stimulation of phosphodiesterase activity PubMed
    env The fusion between CD4+ human cells and cells stably expressing HIV-1 gp41 and gp120 is inhibited by calmodulin PubMed
    Nef nef HIV-1 Nef induces interleukin 10 expression through an interaction with the calcium/calmodulin-dependent phosphodiesterase signal transduction pathway PubMed
    nef HIV-1 Nef-induced CCL-2/MCP-1 upregulation in astrocytes depends on the myristoylation moiety (residues 2-3) of Nef and requires functional calmodulin PubMed
    nef Interaction of HIV-1 Nef with calmodulin has been shown by coimmunoprecipitation analyses with lysates from NIH3T3 cells expressing Nef; a myristoylated 20 amino-acid peptide of Nef binds to calmodulin with higher affinity than the nonmyristoylated form PubMed
    nef Fluorescence spectroscopy analyses indicate the myristoylated N-terminal eight amino acids of HIV-1 Nef directly interact with calcium bound calmodulin PubMed
    Tat tat Calmodulin and calmodulin-dependent protein kinase-II (CaMK-II)-activated p38 MAPK play a role in extracellular Tat-induced IL-10 expression in primary human monocytes PubMed
    matrix gag HIV-1 MA-(8-43) binds to CaM in a manner similar to that observed for the full-length MA protein, and that the CaM protein is in an anti-parallel mode PubMed
    gag An HIV-1 MA peptide (residues 8-43) binds to CaM with a very high affinity with dissociation constant 25 nm PubMed
    gag The two buried tryptophan's (W16 and W36), which located in the first two alpha-helices of MA, mediate the calmodulin interaction PubMed
    gag Calmodulin (CaM) binding to HIV-1 MA induces the extrusion of the myristate group, suggesting that hydrophobic contacts between CaM and MA are critical for binding PubMed
    gag Calmodulin binds to both HIV-1 Gag and Matrix proteins through an extended calmodulin-binding domain in Matrix (amino acids 11-46) PubMed
    retropepsin gag-pol Calcium-depleted calmodulin can be cleaved at phe65-pro66 and met71-met72 by HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables adenylate cyclase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium channel inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium-dependent protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein phosphatase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein serine/threonine kinase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein serine/threonine kinase activator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables titin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in G2/M transition of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in autophagosome membrane docking IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to interferon-beta IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to type II interferon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in detection of calcium ion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrion-endoplasmic reticulum membrane tethering IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of calcium ion export across plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of high voltage-gated calcium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of peptidyl-threonine phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of ryanodine-sensitive calcium-release channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in organelle localization by membrane tethering IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cyclic-nucleotide phosphodiesterase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of peptidyl-threonine phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of phosphoprotein phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein autophosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of protein dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of receptor signaling pathway via JAK-STAT IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of ryanodine-sensitive calcium-release channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of calcium-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion IC
    Inferred by Curator
    more info
     
    involved_in regulation of cell communication by electrical coupling involved in cardiac conduction IC
    Inferred by Curator
    more info
     
    involved_in regulation of cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of heart rate IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of ryanodine-sensitive calcium-release channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to calcium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in substantia nigra development HEP PubMed 
    Component Evidence Code Pubs
    part_of calcium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of catalytic complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in myelin sheath IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus HDA PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sarcomere IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sperm midpiece IEA
    Inferred from Electronic Annotation
    more info
     
    located_in spindle microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in vesicle HDA PubMed 
    part_of voltage-gated potassium channel complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    calmodulin-1
    Names
    Calmodulin-2
    Calmodulin-3
    calmodulin 1 (phosphorylase kinase, delta)
    phosphorylase kinase subunit delta
    phosphorylase kinase subunit delta 1
    phosphorylase kinase, delta subunit
    prepro-calmodulin 1
    NP_001350598.1
    NP_001350599.1
    NP_008819.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_013338.1 RefSeqGene

      Range
      5047..16286
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001363669.2NP_001350598.1  calmodulin-1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL512791, DA059080
      Consensus CDS
      CCDS91917.1
      UniProtKB/TrEMBL
      A0A9K3Y7M0, D6W5B3, E7ETZ0, H0Y7A7, Q96HY3
      Related
      ENSP00000442853.2, ENST00000544280.6
      Conserved Domains (1) summary
      PTZ00184
      Location:1113
      PTZ00184; calmodulin; Provisional
    2. NM_001363670.2NP_001350599.1  calmodulin-1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL512791
      UniProtKB/TrEMBL
      B2RDW0
      Conserved Domains (1) summary
      PTZ00184
      Location:3150
      PTZ00184; calmodulin; Provisional
    3. NM_006888.6NP_008819.1  calmodulin-1 isoform 2

      See identical proteins and their annotated locations for NP_008819.1

      Status: REVIEWED

      Source sequence(s)
      AI651063, AL512791, AU122722, BC011834
      Consensus CDS
      CCDS9892.1
      UniProtKB/Swiss-Prot
      P02593, P0DP23, P0DP24, P0DP25, P62158, P70667, P99014, Q13942, Q53S29, Q61379, Q61380, Q96HK3
      UniProtKB/TrEMBL
      B2RDW0, B4DJ51
      Related
      ENSP00000349467.4, ENST00000356978.9
      Conserved Domains (1) summary
      PTZ00184
      Location:1149
      PTZ00184; calmodulin; Provisional

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      90396502..90408268
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      84621229..84632993
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001166106.1: Suppressed sequence

      Description
      NM_001166106.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.