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KCTD3 potassium channel tetramerization domain containing 3 [ Homo sapiens (human) ]

Gene ID: 51133, updated on 1-Aug-2020

Summary

Official Symbol
KCTD3provided by HGNC
Official Full Name
potassium channel tetramerization domain containing 3provided by HGNC
Primary source
HGNC:HGNC:21305
See related
Ensembl:ENSG00000136636 MIM:613272
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
NY-REN-45
Summary
This gene encodes a member of the potassium channel tetramerization-domain containing (KCTD) protein family. Members of this protein family regulate the biophysical characteristics of ion channels. In mouse, this protein interacts with hyperpolarization-activated cyclic nucleotide-gated channel complex 3 and enhances its cell surface expression and current density. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Expression
Ubiquitous expression in adrenal (RPKM 47.4), small intestine (RPKM 24.0) and 25 other tissues See more
Orthologs

Genomic context

See KCTD3 in Genome Data Viewer
Location:
1q41
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (215567304..215621807)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (215740528..215795149)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene potassium two pore domain channel subfamily K member 2 Neighboring gene voltage dependent anion channel 1 pseudogene 10 Neighboring gene uncharacterized LOC105372919 Neighboring gene usherin Neighboring gene USH2A antisense RNA 2 Neighboring gene USH2A antisense RNA 1 Neighboring gene mitochondrial ribosomal protein S18B pseudogene 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC43935

Gene Ontology Provided by GOA

Process Evidence Code Pubs
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
BTB/POZ domain-containing protein KCTD3
Names
NY-REN-45 antigen
potassium channel tetramerisation domain containing 3
renal carcinoma antigen NY-REN-45

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_047148.1 RefSeqGene

    Range
    5120..59623
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001319294.2NP_001306223.1  BTB/POZ domain-containing protein KCTD3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AL365315, BC094879, BC143963, CK902987, HY029594
    UniProtKB/Swiss-Prot
    Q9Y597
    Conserved Domains (1) summary
    pfam02214
    Location:20105
    BTB_2; BTB/POZ domain
  2. NM_001319295.2NP_001306224.1  BTB/POZ domain-containing protein KCTD3 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and uses an alternate start codon, compared to variant 1. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL365315, BC094879, BC143963, CK902987, HY029594
    UniProtKB/Swiss-Prot
    Q9Y597
  3. NM_016121.5NP_057205.2  BTB/POZ domain-containing protein KCTD3 isoform 1

    See identical proteins and their annotated locations for NP_057205.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL365315, BC094879, BC117188, CK902987, HY029594
    Consensus CDS
    CCDS1515.1
    UniProtKB/Swiss-Prot
    Q9Y597
    Related
    ENSP00000259154.2, ENST00000259154.9
    Conserved Domains (1) summary
    pfam02214
    Location:20105
    BTB_2; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    215567304..215621807
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273158.2XP_005273215.1  BTB/POZ domain-containing protein KCTD3 isoform X1

    See identical proteins and their annotated locations for XP_005273215.1

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