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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
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:140877093-140907603 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 86.61 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    741 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1858496
 protein coding gene Chr7:140877089-140918758 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033223
 protein coding gene Chr7:146479348-146511479 (-)
A/J MGP_AJ_G0033205
 protein coding gene Chr7:142290330-142320936 (-)
AKR/J MGP_AKRJ_G0033137
 protein coding gene Chr7:146219463-146249990 (-)
BALB/cJ MGP_BALBcJ_G0033206
 protein coding gene Chr7:142035304-142066013 (-)
C3H/HeJ MGP_C3HHeJ_G0032920
 protein coding gene Chr7:145977921-146009150 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033717
 protein coding gene Chr7:151832366-151863018 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030690
 protein coding gene Chr7:143500585-143534563 (-)
CAST/EiJ MGP_CASTEiJ_G0032250
 protein coding gene Chr7:138275784-138307204 (-)
CBA/J MGP_CBAJ_G0032892
 protein coding gene Chr7:156964584-156995143 (-)
DBA/2J MGP_DBA2J_G0033044
 protein coding gene Chr7:140237689-140268253 (-)
FVB/NJ MGP_FVBNJ_G0032997
 protein coding gene Chr7:140151365-140182148 (-)
LP/J MGP_LPJ_G0033139
 protein coding gene Chr7:147976811-148007445 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033030
 protein coding gene Chr7:157624259-157654811 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033737
 protein coding gene Chr7:145192653-145223204 (-)
PWK/PhJ MGP_PWKPhJ_G0031954
 protein coding gene Chr7:133517736-133549281 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031801
 protein coding gene Chr7:132015154-132046705 (-)
WSB/EiJ MGP_WSBEiJ_G0032361
 protein coding gene Chr7:146139126-146170026 (-)



Homology
more
  • Human Ortholog
    DEAF1, DEAF1 transcription factor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DEAF1, DEAF1 transcription factor
  • Synonyms
    MRD24, NEDHELS, NUDR, SPN, VSVS, ZMYND5
  • Links
    NCBI Gene ID: 10522
    neXtProt AC: NX_O75398
    UniProt: O75398

  • Chr Location
    11p15.5; chr11:644220-707118 (-)  GRCh38
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
less
  • Phenotype Summary
    11 phenotypes from 2 alleles in 2 genetic backgrounds
    18 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
less
  • All GO Annotations
    29
  • GO References
    11
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
    947
  • Tissues
    98
  • cDNA Data
    99
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000058886 Ensembl Gene Model | MGI Sequence Detail 30511 C57BL/6J ±  kb
    transcript ENSMUST00000211537 Ensembl | MGI Sequence Detail 2882 Not Applicable  
    polypeptide ENSMUSP00000147728 Ensembl | MGI Sequence Detail 575 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 102
      cDNA 100
      Primer pair 1
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2142153, MGI:2443244
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 11
      Gene Ontology 11
      Phenotypes 18
    • 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:291388 McGee SR, et al., Impaired memory and marble burying activity in deformed epidermal autoregulatory factor 1 (Deaf1) conditional knockout mice. Behav Brain Res. 2020 Feb 17;380:112383
    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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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory