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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
  • Gene Overview
    MyGene.info: DKC1
Location & Maps
more
  • Sequence Map
    ChrX:75095854-75109777 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      13924 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    DKC1, dyskerin pseudouridine synthase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    DKC1, dyskerin pseudouridine synthase 1
    Orthology source: HomoloGene
  • Synonyms
    CBF5, DKC, DKCX, NAP57, NOLA4, XAP101
  • Links
    NCBI Gene ID: 1736
    neXtProt AC: NX_O60832

  • Chr Location
    Xq28; chrX:154762742-154777689 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Dkc1 mouse models; 1 with human DKC1 associations

Human Disease Mouse Models
       Dyskeratosis Congenita, X-Linked; DKCX   OMIM: 305000 View 3 models
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
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  • Phenotype Summary
    70 phenotypes from 6 alleles in 7 genetic backgrounds
    1 phenotype from multigenic genotypes
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    13
  • Gene trapped
    4
  • Targeted
    9
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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000020788 VEGA Gene Model | MGI Sequence Detail 13924 C57BL/6J ±  kb
transcript OTTMUST00000049145 VEGA | MGI Sequence Detail 2804 Not Applicable  
polypeptide OTTMUSP00000022726 VEGA | MGI Sequence Detail 509 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    21 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 117
    cDNA 117

    Microarray probesets 4
Other
Accession IDs
less
MGI:3040698
References
more
  • Summaries
    All 43
    Developmental Gene Expression 1
    Diseases 3
    Gene Ontology 10
    Phenotypes 14
  • 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:199000 Kappei D, et al., HOT1 is a mammalian direct telomere repeat-binding protein contributing to telomerase recruitment. EMBO J. 2013 Jun 12;32(12):1681-701

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory