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Ufd1l Gene Detail
Summary
  • Symbol
    Ufd1l
  • Name
    ubiquitin fusion degradation 1 like
  • Synonyms
    Ufd1
  • Feature Type
    protein coding gene
  • IDs
    MGI:109353
    NCBI Gene: 22230
  • Gene Overview
    MyGene.info: UFD1L
Location & Maps
more
  • Sequence Map
    Chr16:18811779-18835256 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      23478 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 11.65 cM, cytoband B1-B4
  • Mapping Data
    10 experiments
Homology
more
  • Human Ortholog
    UFD1L, ubiquitin fusion degradation 1 like (yeast)
  • Vertebrate Orthologs
    8
  • Human Ortholog
    UFD1L, ubiquitin fusion degradation 1 like (yeast)
    Orthology source: HomoloGene, HGNC
  • Synonyms
    UFD1
  • Links
    NCBI Gene ID: 7353
    neXtProt AC: NX_Q92890

  • Chr Location
    22q11.21; chr22:19449941-19479296 (-)  GRCh38.p2

Human Diseases
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  • References
    9 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    33 phenotype references
  • All Mutations and Alleles
    28
  • Gene trapped
    18
  • Targeted
    10
  • Genomic Mutations
    5 involving Ufd1l
  • Incidental Mutations
Mice heterozygous for a knock-out allele are viable with no obvious heart defects.
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
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036274 VEGA Gene Model | MGI Sequence Detail 23478 C57BL/6J ±  kb
transcript OTTMUST00000093120 VEGA | MGI Sequence Detail 2078 Not Applicable  
polypeptide OTTMUSP00000051590 VEGA | MGI Sequence Detail 307 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    116 from dbSNP Build 142
Protein
Information
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  • UniProt
    9 Sequences
  • Protein Ontology
    PR:000017040 ubiquitin fusion degradation protein 1
  • InterPro Domains
    IPR004854 Ubiquitin fusion degradation protein UFD1
Molecular
Reagents
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  • All nucleic 123
    Genomic 18
    cDNA 102
    Primer pair 3

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-38398
References
more
  • Summaries
    All 58
    Developmental Gene Expression 13
    Diseases 9
    Gene Ontology 8
    Phenotypes 33
  • Earliest
    J:38618 Pizzuti A, et al., UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum Mol Genet. 1997 Feb;6(2):259-65
  • Latest
    J:213451 Karpinski BA, et al., Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome. Dis Model Mech. 2014 Feb;7(2):245-57

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
09/27/2016
MGI 6.05
The Jackson Laboratory