About   Help   FAQ
Dph5 Gene Detail
Summary
  • Symbol
    Dph5
  • Name
    diphthamide biosynthesis 5
  • Synonyms
    2410012M04Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916990
    NCBI Gene: 69740
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:115681785-115728010 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 50.13 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1094 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1916990
 protein coding gene Chr3:115681486-115728010 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027804
 protein coding gene Chr3:117761326-117801562 (+)
A/J MGP_AJ_G0027762
 protein coding gene Chr3:113911564-113944974 (+)
AKR/J MGP_AKRJ_G0027728
 protein coding gene Chr3:116780533-116812709 (+)
BALB/cJ MGP_BALBcJ_G0027774
 protein coding gene Chr3:113760739-113796911 (+)
C3H/HeJ MGP_C3HHeJ_G0027505
 protein coding gene Chr3:117151242-117189669 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028220
 protein coding gene Chr3:122087982-122135776 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025559
 protein coding gene Chr3:109611912-109644000 (+)
CAST/EiJ MGP_CASTEiJ_G0026961
 protein coding gene Chr3:116428072-116460365 (+)
CBA/J MGP_CBAJ_G0027480
 protein coding gene Chr3:126258479-126296846 (+)
DBA/2J MGP_DBA2J_G0027621
 protein coding gene Chr3:113149986-113183355 (+)
FVB/NJ MGP_FVBNJ_G0027589
 protein coding gene Chr3:110796631-110828872 (+)
LP/J MGP_LPJ_G0027731
 protein coding gene Chr3:119302568-119341127 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027619
 protein coding gene Chr3:133635048-133669796 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028276
 protein coding gene Chr3:116336378-116371371 (+)
PWK/PhJ MGP_PWKPhJ_G0026687
 protein coding gene Chr3:112787423-112820789 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026509
 protein coding gene Chr3:114345853-114383456 (+)
WSB/EiJ MGP_WSBEiJ_G0027041
 protein coding gene Chr3:117014511-117048328 (+)



Homology
more
  • Human Ortholog
    DPH5, diphthamide biosynthesis 5
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DPH5, diphthamide biosynthesis 5
  • Synonyms
    AD-018, CGI-30, HSPC143, NEDSFF, NPD015
  • Links
    NCBI Gene ID: 51611
    neXtProt AC: NX_Q9H2P9
    UniProt: Q9H2P9

  • Chr Location
    1p21.2; chr1:100989623-101026088 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human DPH5 associations

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

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotype references
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    8
  • GO References
    7
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
    706
  • cDNA Data
    39
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 69740 NCBI Gene Model | MGI Sequence Detail 46226 C57BL/6J ±  kb
transcript NM_027193 RefSeq | MGI Sequence Detail 1571 C57BL/6  
polypeptide Q9CWQ0 UniProt | EBI | MGI Sequence Detail 281 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 39
    cDNA 39

    Microarray probesets 5
Other
Accession IDs
less
MGI:2139918, MGI:2140072
References
more
  • Summaries
    All 41
    Diseases 1
    Gene Ontology 7
    Phenotypes 12
  • Earliest
    J:354361 Moehring JM, et al., The post-translational trimethylation of diphthamide studied in vitro. J Biol Chem. 1988 Mar 15;263(8):3840-4
  • Latest
    J:327285 Shankar SP, et al., A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. Genet Med. 2022 Jul;24(7):1567-1582
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
11/12/2024
MGI 6.24 		The Jackson Laboratory