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    TRPM7 transient receptor potential cation channel subfamily M member 7 [ Homo sapiens (human) ]

    Gene ID: 54822, updated on 1-May-2016
    Official Symbol
    TRPM7provided by HGNC
    Official Full Name
    transient receptor potential cation channel subfamily M member 7provided by HGNC
    Primary source
    HGNC:HGNC:17994
    See related
    Ensembl:ENSG00000092439 HPRD:10418; MIM:605692; Vega:OTTHUMG00000172449
    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
    CHAK; CHAK1; ALSPDC; LTRPC7; LTrpC-7; TRP-PLIK
    Summary
    The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]
    Orthologs
    Location:
    15q21
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (50557158..50686815, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (50849351..50979012, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 8 Neighboring gene ribosomal protein S20 pseudogene 34 Neighboring gene ubiquitin specific peptidase 50 Neighboring gene signal peptide peptidase like 2A Neighboring gene ribosomal protein L32 pseudogene 30

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
    MedGen: C0543859 OMIM: 105500 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    NHGRI GWA Catalog
    Impact of ancestry and common genetic variants on QT interval in African Americans.
    NHGRI GWA Catalog
    • Ion channel transport, organism-specific biosystem (from REACTOME)
      Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
    • Mineral absorption, organism-specific biosystem (from KEGG)
      Mineral absorption, organism-specific biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
    • Mineral absorption, conserved biosystem (from KEGG)
      Mineral absorption, conserved biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
    • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
      Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
    • TRP channels, organism-specific biosystem (from REACTOME)
      TRP channels, organism-specific biosystemTransient receptor potential (TRP) channel proteins were first discovered in Drosophila melanogaster and have many homologues in other species including humans. TRPs form cationic channels that can ...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ20117, FLJ25718

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    calcium channel activity TAS
    Traceable Author Statement
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    myosin binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    actomyosin structure organization IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    calcium-dependent cell-matrix adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    cellular magnesium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    necroptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein autophosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    protein tetramerization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    ruffle IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    transient receptor potential cation channel subfamily M member 7
    Names
    LTRPC ion channel family member 7
    channel-kinase 1
    long transient receptor potential channel 7
    transient receptor potential cation channel, subfamily M, member 7
    transient receptor potential-phospholipase C-interacting kinase
    NP_001288141.1
    NP_060142.3

    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_021363.1 RefSeqGene

      Range
      5001..134658
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001301212.1NP_001288141.1  transient receptor potential cation channel subfamily M member 7 isoform b

      See identical proteins and their annotated locations for NP_001288141.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is 1 aa shorter than isoform a.
      Source sequence(s)
      AC084756, AF346629, AY032950, BC028843, BP354541
      Consensus CDS
      CCDS73725.1
      UniProtKB/Swiss-Prot
      Q96QT4
      UniProtKB/TrEMBL
      H0YLN8
      Related
      ENSP00000453277, OTTHUMP00000248453, ENST00000560955, OTTHUMT00000418603
      Conserved Domains (2) summary
      smart00811
      Location:15971815
      Alpha_kinase; Alpha-kinase family
      pfam00520
      Location:8871095
      Ion_trans; Ion transport protein
    2. NM_017672.5NP_060142.3  transient receptor potential cation channel subfamily M member 7 isoform a

      See identical proteins and their annotated locations for NP_060142.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC084756, AY032950, BC028843, BP354541
      Consensus CDS
      CCDS42035.1
      UniProtKB/Swiss-Prot
      Q96QT4
      UniProtKB/TrEMBL
      A0A024R5V1
      Related
      ENSP00000320239, OTTHUMP00000248454, ENST00000313478, OTTHUMT00000418604
      Conserved Domains (2) summary
      smart00811
      Location:15981816
      Alpha_kinase; Alpha-kinase family
      pfam00520
      Location:8871095
      Ion_trans; Ion transport protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

      Range
      50557158..50686815 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005254487.2XP_005254544.1  

      Conserved Domains (2) summary
      smart00811
      Location:16171835
      Alpha_kinase; Alpha-kinase family
      pfam00520
      Location:8871095
      Ion_trans; Ion transport protein
    2. XM_005254486.2XP_005254543.1  

      Conserved Domains (2) summary
      smart00811
      Location:16181836
      Alpha_kinase; Alpha-kinase family
      pfam00520
      Location:8871095
      Ion_trans; Ion transport protein
    3. XM_011521712.1XP_011520014.1  

      Conserved Domains (1) summary
      pfam00520
      Location:887999
      Ion_trans; Ion transport protein

    RNA

    1. XR_931853.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      50967312..51096974 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)