Format

Send to:

Choose Destination

Links from Nucleotide

    • Showing Current items.

    KCTD7 potassium channel tetramerization domain containing 7 [ Homo sapiens (human) ]

    Gene ID: 154881, updated on 6-Aug-2017
    Official Symbol
    KCTD7provided by HGNC
    Official Full Name
    potassium channel tetramerization domain containing 7provided by HGNC
    Primary source
    HGNC:HGNC:21957
    See related
    Ensembl:ENSG00000243335 MIM:611725; Vega:OTTHUMG00000129543
    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
    EPM3; CLN14
    Summary
    This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]
    Orthologs
    Location:
    7q11.21
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (66628881..66643229)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (66093868..66113964)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RAB guanine nucleotide exchange factor 1 pseudogene Neighboring gene suppressor APC domain containing 2 pseudogene 3 Neighboring gene ribosomal protein L35 pseudogene 5 Neighboring gene uncharacterized LOC100996437 Neighboring gene RAB guanine nucleotide exchange factor 1 Neighboring gene uncharacterized LOC107986707

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Epilepsy, progressive myoclonic 3
    MedGen: C2673257 OMIM: 611726 GeneReviews: Neuronal Ceroid-Lipofuscinoses
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study.
    NHGRI GWA Catalog
    The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human potassium channel tetramerisation domain containing 7 (KCTD7) at amino acid residues 510-511 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
      Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ32069, FLJ45891

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    BTB/POZ domain-containing protein KCTD7
    Names
    potassium channel tetramerisation domain containing 7

    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_028110.1 RefSeqGene

      Range
      5001..19349
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001167961.2NP_001161433.1  BTB/POZ domain-containing protein KCTD7 isoform 2

      See identical proteins and their annotated locations for NP_001161433.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate segment in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) is 1-aa shorter at the C-terminus, compared to isoform 1.
      Source sequence(s)
      AC006001, AK055201, BC042482, BU682845, BY795857, DA493191
      Consensus CDS
      CCDS55117.1
      UniProtKB/Swiss-Prot
      Q96MP8
      Related
      ENSP00000411624.1, OTTHUMP00000210530, ENST00000443322.1, OTTHUMT00000345614
      Conserved Domains (2) summary
      smart00225
      Location:55144
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cl02518
      Location:53138
      BTB; BTB/POZ domain
    2. NM_153033.4NP_694578.1  BTB/POZ domain-containing protein KCTD7 isoform 1

      See identical proteins and their annotated locations for NP_694578.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC006001, AK055201, AK056631, BU682845, BY795857, DA493191
      Consensus CDS
      CCDS5534.1
      UniProtKB/Swiss-Prot
      Q96MP8
      UniProtKB/TrEMBL
      A0A024RDN7
      Related
      ENSP00000492240.1, OTTHUMP00000159940, ENST00000639828.1, OTTHUMT00000251733
      Conserved Domains (2) summary
      smart00225
      Location:55144
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cl02518
      Location:53138
      BTB; BTB/POZ domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      66628881..66643229
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      66189128..66203476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center