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Dkc1 Gene Detail
Summary
  • Symbol
    Dkc1
  • Name
    dyskeratosis congenita 1, dyskerin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1861727
    NCBI Gene: 245474
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:74139460-74153382 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 38.15 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    244 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1861727
 protein coding gene ChrX:74139460-74153383 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035853
 protein coding gene ChrX:70926804-70940670 (+)
A/J MGP_AJ_G0035840
 protein coding gene ChrX:71132690-71147361 (+)
AKR/J MGP_AKRJ_G0035761
 protein coding gene ChrX:73017531-73031416 (+)
BALB/cJ MGP_BALBcJ_G0035822
 protein coding gene ChrX:70157110-70171152 (+)
C3H/HeJ MGP_C3HHeJ_G0035532
 protein coding gene ChrX:71404382-71418225 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036352
 protein coding gene ChrX:73213892-73227736 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033191
 protein coding gene ChrX:70600112-70614027 (+)
CAST/EiJ MGP_CASTEiJ_G0034818
 protein coding gene ChrX:56767868-56782928 (+)
CBA/J MGP_CBAJ_G0035505
 protein coding gene ChrX:75167861-75181726 (+)
DBA/2J MGP_DBA2J_G0035663
 protein coding gene ChrX:70613702-70627586 (+)
FVB/NJ MGP_FVBNJ_G0035604
 protein coding gene ChrX:69922747-69936604 (+)
LP/J MGP_LPJ_G0035745
 protein coding gene ChrX:71738045-71751863 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035638
 protein coding gene ChrX:77769618-77786892 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036378
 protein coding gene ChrX:70779635-70795345 (+)
PWK/PhJ MGP_PWKPhJ_G0034515
 protein coding gene ChrX:54766359-54780604 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034351
 protein coding gene ChrX:57591612-57607108 (+)
WSB/EiJ MGP_WSBEiJ_G0034957
 protein coding gene ChrX:70020796-70034673 (+)



Homology
more
  • Human Ortholog
    DKC1, dyskerin pseudouridine synthase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DKC1, dyskerin pseudouridine synthase 1
  • Synonyms
    CBF5, CHINE1, DKC, DKCX, NAP57, NOLA4, XAP101
  • Links
    NCBI Gene ID: 1736
    neXtProt AC: NX_O60832
    UniProt: O60832

  • Chr Location
    Xq28; chrX:154762742-154777689 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Dkc1 mouse models; 3 with human DKC1 associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    70 phenotypes from 6 alleles in 7 genetic backgrounds
    1 phenotype from multigenic genotypes
    16 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.
Early generation male mice hemizygous for a hypomorphic allele exhibit bone marrow failure, dyskeratosis, extramedullary hematopoieis, splenomegaly, lung and kidney abnormalities, increased tumor incidence, and altered ribosome function; decreased telomere length is noted only in later generations.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    54
  • GO References
    9
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
membraneless 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
    755
  • Tissues
    44
  • cDNA Data
    115
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 245474 NCBI Gene Model | MGI Sequence Detail 13923 C57BL/6J ±  kb
    transcript NM_001359413 RefSeq | MGI Sequence Detail 2930 C57BL/6  
    polypeptide Q9ESX5 UniProt | EBI | MGI Sequence Detail 509 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 117
      cDNA 117

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:3040698
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 2
      Diseases 3
      Gene Ontology 9
      Phenotypes 16
    • Earliest
      J:62560 Yang Y, et al., Conserved composition of mammalian box H/ACA and box C/D small nucleolar ribonucleoprotein particles and their interaction with the common factor Nopp140. Mol Biol Cell. 2000 Feb;11(2):567-77
    • Latest
      J:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory