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Deaf1 Gene Detail
Summary
  • Symbol
    Deaf1
  • Name
    DEAF1, transcription factor
  • Synonyms
    C230009B13Rik, NUDR, suppressin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1858496
    NCBI Gene: 54006
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr7:141297180-141327690 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      30511 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 86.61 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    DEAF1, DEAF1, transcription factor
  • Vertebrate Orthologs
    10
  • Human Ortholog
    DEAF1, DEAF1, transcription factor
    Orthology source: HomoloGene, HGNC
  • Synonyms
    MRD24, NUDR, SPN, ZMYND5
  • Links
    NCBI Gene ID: 10522
    neXtProt AC: NX_O75398
    UniProt: O75398

  • Chr Location
    11p15.5; chr11:644220-695754 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 9647
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: DEAF1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human DEAF1 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 2 alleles in 2 genetic backgrounds
    13 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 a knock-out allele exhibit frequent exencephaly associated with neonatal lethality, rib cage abnormalities, and a low frequency of homeotic transformations of cervical segments but no presphenoid bone or cranial nerve defects; non-exencephalic survivors are healthy and fertile.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000060251 VEGA Gene Model | MGI Sequence Detail 30511 C57BL/6J ±  kb
    transcript OTTMUST00000147485 VEGA | MGI Sequence Detail 2882 Not Applicable  
    polypeptide OTTMUSP00000076754 VEGA | MGI Sequence Detail 575 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      80 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 100
      cDNA 99
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2142153, MGI:2443244
    References
    more
    • Summaries
      All 50
      Developmental Gene Expression 10
      Gene Ontology 10
      Phenotypes 13
    • Earliest
      J:51686 Sugihara TM, et al., Mouse deformed epidermal autoregulatory factor 1 recruits a LIM domain factor, LMO-4, and CLIM coregulators. Proc Natl Acad Sci U S A. 1998 Dec 22;95(26):15418-23
    • Latest
      J:247247 Yip L, et al., Inflammation and hyperglycemia mediate Deaf1 splicing in the pancreatic lymph nodes via distinct pathways during type 1 diabetes. Diabetes. 2015 Feb;64(2):604-17

    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
    06/12/2018
    MGI 6.12
    The Jackson Laboratory