About   Help   FAQ
Kctd1 Gene Detail
Summary
  • Symbol
    Kctd1
  • Name
    potassium channel tetramerisation domain containing 1
  • Synonyms
    4933402K10Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1918269
    NCBI Gene: 106931
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:15101742-15284503 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 8.28 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1120 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1918269
 protein coding gene Chr18:15101742-15284503 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024171
 protein coding gene Chr18:12263804-12460308 (-)
A/J MGP_AJ_G0024133
 protein coding gene Chr18:12012270-12197310 (-)
AKR/J MGP_AKRJ_G0024100
 protein coding gene Chr18:12424065-12611354 (-)
BALB/cJ MGP_BALBcJ_G0024132
 protein coding gene Chr18:11957221-12145927 (-)
C3H/HeJ MGP_C3HHeJ_G0023899
 protein coding gene Chr18:12257835-12453073 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024577
 protein coding gene Chr18:12856935-13051322 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022017
 protein coding gene Chr18:11518468-11702224 (-)
CAST/EiJ MGP_CASTEiJ_G0023376
 protein coding gene Chr18:12159780-12360226 (-)
CBA/J MGP_CBAJ_G0023871
 protein coding gene Chr18:13046294-13282020 (-)
DBA/2J MGP_DBA2J_G0024000
 protein coding gene Chr18:11829724-12017277 (-)
FVB/NJ MGP_FVBNJ_G0023965
 protein coding gene Chr18:11668499-11855875 (-)
LP/J MGP_LPJ_G0024083
 protein coding gene Chr18:12377991-12572484 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023994
 protein coding gene Chr18:13169176-13366491 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024623
 protein coding gene Chr18:12147258-12339601 (-)
PWK/PhJ MGP_PWKPhJ_G0023122
 protein coding gene Chr18:11939456-12127976 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022931
 protein coding gene Chr18:12421229-12617851 (-)
WSB/EiJ MGP_WSBEiJ_G0023442
 protein coding gene Chr18:12118171-12310443 (-)



Homology
more
  • Human Ortholog
    KCTD1, potassium channel tetramerization domain containing 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KCTD1, potassium channel tetramerization domain containing 1
  • Synonyms
    C18orf5
  • Links
    NCBI Gene ID: 284252
    neXtProt AC: NX_Q719H9
    UniProt: Q719H9

  • Chr Location
    18q11.2; chr18:26454910-26657473 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human KCTD1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    47 phenotypes from 2 alleles in 2 genetic backgrounds
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for an ENU-induced point mutation exhibit perinatal lethality while heterozygous mutant mice display kidney dysfunction and secondary effects thereof as the main pathological phenotype.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    12
  • GO References
    4
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    776
  • Tissues
    28
  • cDNA Data
    46
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 106931 NCBI Gene Model | MGI Sequence Detail 182762 C57BL/6J ±  kb
    transcript NM_001142731 RefSeq | MGI Sequence Detail 3456 Not Specified  
    polypeptide Q5M956 UniProt | EBI | MGI Sequence Detail 257 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000032011 BTB/POZ domain-containing protein KCTD1
      (term hierarchy)
    • InterPro Domains
      IPR000210 BTB/POZ domain
      IPR048595 BTB/POZ domain-containing protein KCTD1/15-like, C-terminal domain
      IPR048599 BTB/POZ domain-containing protein KCTD1, BTB/POZ domain
      IPR021893 Domain of unknown function DUF3504
      IPR003131 Potassium channel tetramerisation-type BTB domain
      IPR011333 SKP1/BTB/POZ domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 47
      cDNA 46
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2146661, MGI:2147253
    References
    more
    • Summaries
      All 34
      Developmental Gene Expression 4
      Gene Ontology 4
      Phenotypes 8
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:344153 Raymundo JR, et al., KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions and their impairment causes aplasia cutis. J Clin Invest. 2023 Dec 19;:e174138
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory