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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
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:75068469-75081309 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 45.76 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    337 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2151233
 protein coding gene Chr11:75068469-75082067 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018706
 protein coding gene Chr11:75909243-75927798 (-)
A/J MGP_AJ_G0018672
 protein coding gene Chr11:73090182-73105605 (-)
AKR/J MGP_AKRJ_G0018642
 protein coding gene Chr11:75305112-75318882 (-)
BALB/cJ MGP_BALBcJ_G0018646
 protein coding gene Chr11:73460881-73474881 (-)
C3H/HeJ MGP_C3HHeJ_G0018459
 protein coding gene Chr11:75318957-75334748 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019097
 protein coding gene Chr11:78285547-78300763 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016732
 protein coding gene Chr11:70106932-70119724 (-)
CAST/EiJ MGP_CASTEiJ_G0018013
 protein coding gene Chr11:75706493-75721148 (-)
CBA/J MGP_CBAJ_G0018429
 protein coding gene Chr11:81721263-81737148 (-)
DBA/2J MGP_DBA2J_G0018538
 protein coding gene Chr11:72696234-72711825 (-)
FVB/NJ MGP_FVBNJ_G0018528
 protein coding gene Chr11:72258834-72275211 (-)
LP/J MGP_LPJ_G0018609
 protein coding gene Chr11:76503411-76518547 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018554
 protein coding gene Chr11:82307560-82326675 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019137
 protein coding gene Chr11:75490778-75506489 (-)
PWK/PhJ MGP_PWKPhJ_G0017784
 protein coding gene Chr11:73392489-73406367 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017575
 protein coding gene Chr11:75061832-75077397 (-)
WSB/EiJ MGP_WSBEiJ_G0018066
 protein coding gene Chr11:75309755-75325285 (-)



Homology
more
  • Human Ortholog
    DPH1, diphthamide biosynthesis 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DPH1, diphthamide biosynthesis 1
  • Synonyms
    DEDSSH, DPH2L, DPH2L1, OVCA1
  • Links
    NCBI Gene ID: 1801
    neXtProt AC: NX_Q9BZG8
    UniProt: Q9BZG8

  • Chr Location
    17p13.3; chr17:2030112-2043898 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Dph1 mouse models; 1 with human DPH1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    50 phenotypes from 5 alleles in 8 genetic backgrounds
    10 phenotypes from multigenic genotypes
    19 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 disruptions in this gene die perinatally of respiratory distress or earlier. Numerous systems are affected. Compound heterozygosity for the p.Q41* and p.E237Q mutations is prenatal lethal with smaller embryos with smaller mandibles and unfused palatal shelves.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    18
  • GO References
    10
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
    748
  • Tissues
    26
  • cDNA Data
    14
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 116905 NCBI Gene Model | MGI Sequence Detail 12841 C57BL/6J ±  kb
    transcript NM_144491 RefSeq | MGI Sequence Detail 2103 ZRU/MplStud  
    polypeptide Q5NCQ5 UniProt | EBI | MGI Sequence Detail 438 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000006652 2-(3-amino-3-carboxypropyl)histidine synthase subunit 1
      (term hierarchy)
    • EC
      2.5.1.108
    • InterPro Domains
      IPR035435 Diphthamide synthesis DHP1/DPH2, eukaryotes and archaea
      IPR016435 Diphthamide synthesis DPH1/DPH2
      IPR042263 Diphthamide synthesis DPH1/DPH2, domain 1
      IPR042264 Diphthamide synthesis DPH1/DPH2, domain 2
      IPR042265 Diphthamide synthesis DPH1/DPH2, domain 3
    Molecular
    Reagents
    less
    • All nucleic 19
      Genomic 3
      cDNA 14
      Primer pair 2

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:1916859, MGI:1922243, MGI:2144567
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 4
      Diseases 2
      Gene Ontology 10
      Phenotypes 19
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:347602 Shi Y, et al., Diphthamide deficiency promotes association of eEF2 with p53 to induce p21 expression and neural crest defects. Nat Commun. 2024 Apr 26;15(1):3301
    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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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory