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Ddb1 Gene Detail
Summary
  • Symbol
    Ddb1
  • Name
    damage specific DNA binding protein 1
  • Synonyms
    damage-specific DNA-binding protein, DNA repair, DNA repair protein, p127-Ddb1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1202384
    NCBI Gene: 13194
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:10582961-10607186 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 6.66 cM, cytoband centromere
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    574 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1202384
 protein coding gene Chr19:10582691-10607186 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024852
 protein coding gene Chr19:7955585-7979770 (+)
A/J MGP_AJ_G0024820
 protein coding gene Chr19:7416562-7440775 (+)
AKR/J MGP_AKRJ_G0024795
 protein coding gene Chr19:7709174-7735920 (+)
BALB/cJ MGP_BALBcJ_G0024820
 protein coding gene Chr19:7459419-7483862 (+)
C3H/HeJ MGP_C3HHeJ_G0024586
 protein coding gene Chr19:7589117-7613333 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025268
 protein coding gene Chr19:8314791-8338979 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022695
 protein coding gene Chr19:7835292-7861016 (+)
CAST/EiJ MGP_CASTEiJ_G0024059
 protein coding gene Chr19:7247281-7272669 (+)
CBA/J MGP_CBAJ_G0024560
 protein coding gene Chr19:8359386-8383568 (+)
DBA/2J MGP_DBA2J_G0024687
 protein coding gene Chr19:7426411-7450892 (+)
FVB/NJ MGP_FVBNJ_G0024654
 protein coding gene Chr19:7471273-7495565 (+)
LP/J MGP_LPJ_G0024774
 protein coding gene Chr19:7918988-7943174 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024681
 protein coding gene Chr19:8262535-8287740 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025316
 protein coding gene Chr19:7727600-7751786 (+)
PWK/PhJ MGP_PWKPhJ_G0023804
 protein coding gene Chr19:6869176-6893720 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023609
 protein coding gene Chr19:6905796-6931350 (+)
WSB/EiJ MGP_WSBEiJ_G0024121
 protein coding gene Chr19:7613294-7637468 (+)



Homology
more
  • Human Ortholog
    DDB1, damage specific DNA binding protein 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DDB1, damage specific DNA binding protein 1
  • Synonyms
    DDBA, UV-DDB1, WHIKERS, XAP1, XPCE, XPE, XPE-BF
  • Links
    NCBI Gene ID: 1642
    neXtProt AC: NX_Q16531
    UniProt: Q16531

  • Chr Location
    11q12.2; chr11:61299451-61342596 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human DDB1 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
    36 phenotypes from 3 alleles in 3 genetic backgrounds
    3 phenotypes from multigenic genotypes
    32 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.
Complete deletion of this gene results in embryonic lethality; conditional mutation causes increased apoptosis in the developing brain, and defects in lens formation. Conditional KO in testis affects Sertoli cell development and leads to reduced sperm count.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    83
  • GO References
    21
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
    744
  • Tissues
    24
  • cDNA Data
    19
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13194 NCBI Gene Model | MGI Sequence Detail 24226 C57BL/6J ±  kb
    transcript NM_001410219 RefSeq | MGI Sequence Detail 4228 ZRU/MplStud  
    polypeptide Q3U1J4 UniProt | EBI | MGI Sequence Detail 1140 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000006340 DNA damage-binding protein 1
      (term hierarchy)
    • InterPro Domains
      IPR004871 Cleavage/polyadenylation specificity factor, A subunit, C-terminal
      IPR018846 Cleavage/polyadenylation specificity factor, A subunit, N-terminal
      IPR011047 Quinoprotein alcohol dehydrogenase-like superfamily
      IPR050358 RSE1/DDB1/CFT1/CPSF1
      IPR036322 WD40-repeat-containing domain superfamily
      IPR015943 WD40/YVTN repeat-like-containing domain superfamily
    • GlyGen
      Q3U1J4 3 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 20
      cDNA 20

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2147436
    References
    more
    • Summaries
      All 85
      Developmental Gene Expression 12
      Gene Ontology 21
      Phenotypes 32
    • Earliest
      J:46654 Fernandes M, et al., The mouse homologs of human GIF, DDB1, and CFL1 genes are located on chromosome 19. Mamm Genome. 1998 Apr;9(4):339
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    12/17/2024
    MGI 6.24     		The Jackson Laboratory