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Dph1 Gene Detail
Summary
  • Symbol
    Dph1
  • Name
    diphthamide biosynthesis 1
  • Synonyms
    4930488F09Rik, Dph2l1, Ovca1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2151233
    NCBI Gene: 116905
  • Gene Overview
    MyGene.info: DPH1
Location & Maps
more
  • Sequence Map
    Chr11:75177643-75191241 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      13599 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 45.76 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    DPH1, diphthamide biosynthesis 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    DPH1, diphthamide biosynthesis 1
    Orthology source: HomoloGene
  • Synonyms
    DEDSSH, DPH2L, DPH2L1, OVCA1
  • Links
    NCBI Gene ID: 1801
    neXtProt AC: NX_Q9BZG8

  • Chr Location
    17p13.3; chr17:2030137-2043431 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Dph1 mouse models

Human Disease Mouse Models
       Miller-Dieker Lissencephaly Syndrome; MDLS   OMIM: 247200 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    47 phenotypes from 3 alleles in 7 genetic backgrounds
    9 phenotypes from multigenic genotypes
    17 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.
  • All Mutations and Alleles
    17
  • Chemically induced (other)
    1
  • Gene trapped
    9
  • Targeted
    7
  • Genomic Mutations
    2 involving Dph1
  • Incidental Mutations
Mice homozygous for disruptions in this gene die perinatally of respiratory distress or earlier. Numerous systems are affected.
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 OTTMUSG00000006194 VEGA Gene Model | MGI Sequence Detail 13599 C57BL/6J ±  kb
transcript OTTMUST00000013961 VEGA | MGI Sequence Detail 2139 Not Applicable  
polypeptide OTTMUSP00000006484 VEGA | MGI Sequence Detail 438 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    65 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000006652 diphthamide biosynthesis protein 1
  • InterPro Domains
    IPR016435 Diphthamide synthesis DPH1/DPH2
Molecular
Reagents
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  • All nucleic 19
    Genomic 3
    cDNA 13
    Primer pair 2
    Other 1

    Microarray probesets 2
Other
Accession IDs
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MGI:1916859, MGI:1922243, MGI:2144567
References
more
  • Summaries
    All 33
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 4
    Phenotypes 17
  • 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:214744 Yu YR, et al., Role of OVCA1/DPH1 in craniofacial abnormalities of Miller-Dieker syndrome. Hum Mol Genet. 2014 Nov 1;23(21):5579-96

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory