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

Gene ID: 154881, updated on 4-May-2020

Summary

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
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]
Expression
Ubiquitous expression in testis (RPKM 11.8), brain (RPKM 8.8) and 23 other tissues See more
Orthologs

Genomic context

See KCTD7 in Genome Data Viewer
Location:
7q11.21
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 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 Sharpr-MPRA regulatory region 7945 Neighboring gene ribosomal protein L35 pseudogene 5 Neighboring gene uncharacterized LOC100996437 Neighboring gene RAB guanine nucleotide exchange factor 1 Neighboring gene uncharacterized LOC107986707

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?

Phenotypes

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32069, FLJ45891

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular potassium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
glutamate homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane hyperpolarization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane hyperpolarization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transporter activity IEA
Inferred from Electronic Annotation
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
BTB/POZ domain-containing protein KCTD7
Names
potassium channel tetramerisation domain containing 7

NCBI Reference Sequences (RefSeq)

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_028110.2 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, ENST00000443322.1
    Conserved Domains (1) summary
    cl02518
    Location:53138
    BTB; BTB/POZ domain
  2. NM_153033.5NP_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, AK056631
    Consensus CDS
    CCDS5534.1
    UniProtKB/Swiss-Prot
    Q96MP8
    UniProtKB/TrEMBL
    A0A024RDN7
    Related
    ENSP00000492240.1, ENST00000639828.1
    Conserved Domains (1) summary
    cl02518
    Location:53138
    BTB; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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