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    CALM3 calmodulin 3 [ Homo sapiens (human) ]

    Gene ID: 808, updated on 27-Nov-2024

    Summary

    Official Symbol
    CALM3provided by HGNC
    Official Full Name
    calmodulin 3provided by HGNC
    Primary source
    HGNC:HGNC:1449
    See related
    Ensembl:ENSG00000160014 MIM:114183; AllianceGenome:HGNC:1449
    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; CALM; CAM1; CAM2; CAMB; PHKD; CPVT6; LQT16; PHKD3; CaMIII; HEL-S-72
    Summary
    This gene encodes a member of a family of proteins that binds calcium and functions as a enzymatic co-factor. Activity of this protein is important in the regulation of the cell cycle and cytokinesis. Multiple alternatively spliced transcript variants have been observed at this gene. [provided by RefSeq, Aug 2016]
    Expression
    Ubiquitous expression in brain (RPKM 470.4), testis (RPKM 108.1) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CALM3 in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (46601074..46610782)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (49426688..49436397)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (47104331..47114039)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene PNMA family member 8B Neighboring gene ReSE screen-validated silencer GRCh37_chr19:47025347-47025526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10813 Neighboring gene PPP5 tetratricopeptide repeat domain containing 1, pseudogene Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 38 Neighboring gene MPRA-validated peak3525 silencer Neighboring gene MPRA-validated peak3526 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10814 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14843 Neighboring gene uncharacterized LOC124904729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47119779-47120280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47120281-47120780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47124126-47124640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47128561-47129061 Neighboring gene prostaglandin I2 receptor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10815 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10816 Neighboring gene Sharpr-MPRA regulatory region 2120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10818 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10819 Neighboring gene G protein subunit gamma 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47157789-47158515 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10820 Neighboring gene dishevelled binding antagonist of beta catenin 3 Neighboring gene DACT3 antisense RNA 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

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Long QT syndrome 16
    MedGen: C5394068 OMIM: 618782 GeneReviews: Long QT Syndrome Overview
    not available

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2024-07-09)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2024-07-09)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    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 Fluorescence spectroscopy analyses indicate the myristoylated N-terminal eight amino acids of HIV-1 Nef directly interact with calcium bound calmodulin PubMed
    matrix gag An HIV-1 MA peptide (residues 8-43) binds to CaM with a very high affinity with dissociation constant 25 nm 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

    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 adenylate cyclase binding IPI
    Inferred from Physical Interaction
    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 calcineurin-mediated signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in detection of calcium ion IMP
    Inferred from Mutant Phenotype
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of peptidyl-threonine phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of protein autophosphorylation TAS
    Traceable Author Statement
    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 ryanodine-sensitive calcium-release channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in presynaptic endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    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 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 
    located_in calyx of Held IEA
    Inferred from Electronic Annotation
    more info
     
    part_of catalytic complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in myelin sheath IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus HDA PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in presynaptic cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    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-3
    Names
    Calmodulin-1
    Calmodulin-2
    epididymis secretory protein Li 72
    phosphorylase kinase subunit delta
    phosphorylase kinase subunit delta 3
    prepro-calmodulin 3
    NP_001316850.1
    NP_001316851.1
    NP_001316852.1
    NP_001316853.1
    NP_001316854.1
    NP_001316855.1
    NP_005175.2

    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_051331.1 RefSeqGene

      Range
      5257..14709
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1082

    mRNA and Protein(s)

    1. NM_001329921.1NP_001316850.1  calmodulin-3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC093503
      Consensus CDS
      CCDS86783.1
      UniProtKB/TrEMBL
      A0A9K3Y7M0, D6W5B3, E7ETZ0, H0Y7A7, Q96HY3
      Related
      ENSP00000375785.2, ENST00000391918.6
      Conserved Domains (1) summary
      PTZ00184
      Location:1113
      PTZ00184; calmodulin; Provisional
    2. NM_001329922.1NP_001316851.1  calmodulin-3 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation from an alternate start codon compared to variant 1. Both variants 1 and 3 encode the same protein (isoform 1).
      Source sequence(s)
      AC093503, AK295927, AL050207, BC005137, DC316124
      Consensus CDS
      CCDS86782.1
      UniProtKB/Swiss-Prot
      P02593, P0DP23, P0DP24, P0DP25, P62158, P70667, P99014, Q13942, Q53S29, Q61379, Q61380, Q96HK3
      UniProtKB/TrEMBL
      B2RDW0, B4DJ51
      Related
      ENSP00000472141.1, ENST00000596362.1
      Conserved Domains (1) summary
      PTZ00184
      Location:1149
      PTZ00184; calmodulin; Provisional
    3. NM_001329923.1NP_001316852.1  calmodulin-3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC093503, AK310762, AL050207, BC005137
      Consensus CDS
      CCDS86783.1
      UniProtKB/TrEMBL
      A0A9K3Y7M0, D6W5B3, E7ETZ0, H0Y7A7, Q96HY3
      Related
      ENSP00000471225.1, ENST00000599839.5
      Conserved Domains (1) summary
      PTZ00184
      Location:1113
      PTZ00184; calmodulin; Provisional
    4. NM_001329924.2NP_001316853.1  calmodulin-3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC093503, AL050207, BC005137, BQ428612
      Consensus CDS
      CCDS86783.1
      UniProtKB/TrEMBL
      A0A9K3Y7M0, D6W5B3, E7ETZ0, H0Y7A7, Q96HY3
      Conserved Domains (1) summary
      PTZ00184
      Location:1113
      PTZ00184; calmodulin; Provisional
    5. NM_001329925.2NP_001316854.1  calmodulin-3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC093503, AL050207, BC005137, DC405050
      Consensus CDS
      CCDS86783.1
      UniProtKB/TrEMBL
      A0A9K3Y7M0, D6W5B3, E7ETZ0, H0Y7A7, Q96HY3
      Related
      ENSP00000470502.1, ENST00000598871.5
      Conserved Domains (1) summary
      PTZ00184
      Location:1113
      PTZ00184; calmodulin; Provisional
    6. NM_001329926.2NP_001316855.1  calmodulin-3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC093503, AL050207, BC005137, BC006182, DA138677
      Consensus CDS
      CCDS86783.1
      UniProtKB/TrEMBL
      A0A9K3Y7M0, D6W5B3, E7ETZ0, H0Y7A7, Q96HY3
      Related
      ENSP00000468877.1, ENST00000594523.5
      Conserved Domains (1) summary
      PTZ00184
      Location:1113
      PTZ00184; calmodulin; Provisional
    7. NM_005184.4NP_005175.2  calmodulin-3 isoform 1

      See identical proteins and their annotated locations for NP_005175.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 3 encode the same protein (isoform 1).
      Source sequence(s)
      AW883334, BC005137, BC006182
      Consensus CDS
      CCDS33061.1
      UniProtKB/Swiss-Prot
      P02593, P0DP23, P0DP24, P0DP25, P62158, P70667, P99014, Q13942, Q53S29, Q61379, Q61380, Q96HK3
      UniProtKB/TrEMBL
      B2RDW0, B4DJ51
      Related
      ENSP00000291295.8, ENST00000291295.14
      Conserved Domains (1) summary
      PTZ00184
      Location:1149
      PTZ00184; calmodulin; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      46601074..46610782
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      49426688..49436397
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)