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Ufd1 Gene Detail
Summary
  • Symbol
    Ufd1
  • Name
    ubiquitin recognition factor in ER-associated degradation 1
  • Synonyms
    Ufd1, Ufd1l
  • Feature Type
    protein coding gene
  • IDs
    MGI:109353
    NCBI Gene: 22230
  • Alliance
    genome feature page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:18630529-18654011 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 11.65 cM, cytoband B1-B4
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    116 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109353
 protein coding gene Chr16:18630486-18654011 (+)
129S1/SvImJ ENSMUSG00200042380
 protein coding gene Chr16:15627782-15651495 (+)
A/J ENSMUSG00195027611
 protein coding gene Chr16:15185203-15208919 (+)
AKR/J ENSMUSG00220044135
 protein coding gene Chr16:15501425-15525144 (+)
BALB/cJ ENSMUSG00180031524
 protein coding gene Chr16:15426481-15450198 (+)
C3H/HeJ ENSMUSG00175040122
 protein coding gene Chr16:15571190-15594910 (+)
C57BL/6NJ ENSMUSG00215036605
 protein coding gene Chr16:15292502-15316215 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020554
 protein coding gene Chr16:15302994-15326376 (+)
CAST/EiJ ENSTCUG00005045203
 protein coding gene Chr16:15501576-15525128 (+)
CBA/J ENSMUSG00210033506
 protein coding gene Chr16:15587473-15611184 (+)
DBA/2J ENSMUSG00185032236
 protein coding gene Chr16:15532144-15555857 (+)
FVB/NJ ENSMUSG00205040774
 protein coding gene Chr16:15541651-15565370 (+)
JF1/MsJ ENSUMUG00000019375
 protein coding gene Chr16:15638136-15661743 (+)
LP/J ENSMUSG00230042251
 protein coding gene Chr16:18111497-18135212 (+)
NOD/ShiLtJ ENSMUSG00190045342
 protein coding gene Chr16:15673702-15697417 (+)
NZO/HlLtJ ENSMUSG00225037641
 protein coding gene Chr16:21357345-21381060 (+)
PWK/PhJ ENSLUMG00010042489
 protein coding gene Chr16:15525698-15549109 (+)
SPRET/EiJ ENSMSPG00010042182
 protein coding gene Chr16:15520630-15544554 (+)
WSB/EiJ ENSIUOG00005042694
 protein coding gene Chr16:15675748-15699490 (+)



Homology
more
  • Human Ortholog
    UFD1, ubiquitin recognition factor in ER associated degradation 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    UFD1, ubiquitin recognition factor in ER associated degradation 1
  • Synonyms
    UFD1L
  • Links
    NCBI Gene ID: 7353
    UniProt: Q92890

  • Chr Location
    22q11.21; chr22:19449911-19479215 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human UFD1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    70 phenotype references
Mice heterozygous for a knock-out allele are viable with no obvious heart defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    48
  • GO References
    16
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
    750
  • Tissues
    77
  • cDNA Data
    104
  • Literature Summary
    14
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000005262 Ensembl Gene Model | MGI Sequence Detail 23483 C57BL/6J ±  kb
transcript ENSMUST00000005394 Ensembl | MGI Sequence Detail 1996 Not Applicable  
polypeptide ENSMUSP00000005394 Ensembl | MGI Sequence Detail 307 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000017040 ubiquitin recognition factor in ER-associated degradation protein 1
    (term hierarchy)
  • InterPro Domains
    IPR004854 Ubiquitin fusion degradation protein UFD1-like
    IPR055417 Ubiquitin fusion degradation protein UFD1, N-terminal subdomain 1
    IPR055418 Ubiquitin fusion degradation protein UFD1, N-terminal subdomain 2
    IPR042299 UFD1-like, Nn domain
Molecular
Reagents
less
  • All nucleic 127
    Genomic 18
    cDNA 104
    Primer pair 4
    Other 1
    Antibodies 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-38398
References
more
  • Summaries
    All 134
    Developmental Gene Expression 14
    Diseases 4
    Gene Ontology 16
    Phenotypes 70
  • 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:389391 de Leon Reyes NS, et al., Interhemispheric CA1 projections to the subiculum support spatial cognition and are affected in a mouse model of the 22q11.2 deletion syndrome. Cell Rep. 2026 Mar 20;45(4):117114
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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/08/2026
MGI 6.24 		The Jackson Laboratory