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Fan1 Gene Detail
Summary
  • Symbol
    Fan1
  • Name
    FANCD2/FANCI-associated nuclease 1
  • Synonyms
    6030441H18Rik, Mtmr15
  • Feature Type
    protein coding gene
  • IDs
    MGI:3045266
    NCBI Gene: 330554
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:63996506-64023843 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 34.64 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1164 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3045266
 protein coding gene Chr7:63994627-64023874 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032336
 protein coding gene Chr7:65484642-65513578 (-)
A/J MGP_AJ_G0032315
 protein coding gene Chr7:64217076-64244382 (-)
AKR/J MGP_AKRJ_G0032251
 protein coding gene Chr7:65573116-65601919 (-)
BALB/cJ MGP_BALBcJ_G0032327
 protein coding gene Chr7:63956746-63984474 (-)
C3H/HeJ MGP_C3HHeJ_G0032040
 protein coding gene Chr7:66223238-66250753 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032820
 protein coding gene Chr7:68308253-68337439 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029827
 protein coding gene Chr7:67162825-67190886 (-)
CAST/EiJ MGP_CASTEiJ_G0031369
 protein coding gene Chr7:56918519-56947234 (-)
CBA/J MGP_CBAJ_G0032006
 protein coding gene Chr7:70511648-70539890 (-)
DBA/2J MGP_DBA2J_G0032162
 protein coding gene Chr7:62968645-62996537 (-)
FVB/NJ MGP_FVBNJ_G0032116
 protein coding gene Chr7:63067866-63095214 (-)
LP/J MGP_LPJ_G0032242
 protein coding gene Chr7:66729478-66756816 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032153
 protein coding gene Chr7:70786614-70813925 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032837
 protein coding gene Chr7:64856113-64885521 (-)
PWK/PhJ MGP_PWKPhJ_G0031089
 protein coding gene Chr7:55977977-56006188 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030930
 protein coding gene Chr7:51993576-52025013 (-)
WSB/EiJ MGP_WSBEiJ_G0031487
 protein coding gene Chr7:65239759-65266817 (-)



Homology
more
  • Human Ortholog
    FAN1, FANCD2 and FANCI associated nuclease 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FAN1, FANCD2 and FANCI associated nuclease 1
  • Synonyms
    hFAN1, KIAA1018, KMIN, MTMR15
  • Links
    NCBI Gene ID: 22909
    neXtProt AC: NX_Q9Y2M0
    UniProt: Q9Y2M0

  • Chr Location
    15q13.3; chr15:30890559-30943108 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Fan1 mouse models; 1 with human FAN1 associations

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

  • Mutations/Alleles
    3 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    22 phenotypes from 5 alleles in 5 genetic backgrounds
    5 phenotypes from multigenic genotypes
    35 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 mutations in this gene display renal tubular karyomegaly with polyploidy and defects in interstrand cross-link DNA repair. Some homozygous mice also display hepatocyte karyomegaly and liver dysfunction.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    31
  • 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
    710
  • Tissues
    3
  • cDNA Data
    4
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000033458 Ensembl Gene Model | MGI Sequence Detail 27338 C57BL/6J ±  kb
    transcript ENSMUST00000163289 Ensembl | MGI Sequence Detail 3460 Not Applicable  
    polypeptide ENSMUSP00000130012 Ensembl | MGI Sequence Detail 1020 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 4
      cDNA 4

      Microarray probesets 1
    References
    more
    • Summaries
      All 59
      Developmental Gene Expression 1
      Diseases 5
      Gene Ontology 7
      Phenotypes 35
    • Earliest
      J:88307 Giometti CS, et al., The analysis of recessive lethal mutations in mice by using two-dimensional gel electrophoresis of liver proteins. Mutat Res. 1990 Sep;242(1):47-55
    • 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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory