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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
    gene 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
    18
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 MGP_129S1SvImJ_G0022619
 protein coding gene Chr16:16073763-16099263 (+)
A/J MGP_AJ_G0022580
 protein coding gene Chr16:15268823-15292218 (+)
AKR/J MGP_AKRJ_G0022557
 protein coding gene Chr16:15886504-15909943 (+)
BALB/cJ MGP_BALBcJ_G0022585
 protein coding gene Chr16:15420048-15443492 (+)
C3H/HeJ MGP_C3HHeJ_G0022352
 protein coding gene Chr16:16038455-16061885 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023034
 protein coding gene Chr16:16393286-16417142 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020554
 protein coding gene Chr16:15302994-15326376 (+)
CAST/EiJ MGP_CASTEiJ_G0021879
 protein coding gene Chr16:15936522-15959822 (+)
CBA/J MGP_CBAJ_G0022321
 protein coding gene Chr16:17062718-17086165 (+)
DBA/2J MGP_DBA2J_G0022453
 protein coding gene Chr16:15180243-15203690 (+)
FVB/NJ MGP_FVBNJ_G0022428
 protein coding gene Chr16:15244656-15268123 (+)
LP/J MGP_LPJ_G0022520
 protein coding gene Chr16:15821521-15846574 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022450
 protein coding gene Chr16:16702267-16725588 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023045
 protein coding gene Chr16:15805348-15828649 (+)
PWK/PhJ MGP_PWKPhJ_G0021621
 protein coding gene Chr16:15475313-15499048 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021449
 protein coding gene Chr16:15764231-15789078 (+)
WSB/EiJ MGP_WSBEiJ_G0021925
 protein coding gene Chr16:15830258-15854470 (+)



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
    neXtProt AC: NX_Q92890
    UniProt: Q92890

  • Chr Location
    22q11.21; chr22:19449911-19479202 (-)  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
    62 phenotype references
Mice heterozygous for a knock-out allele are viable with no obvious heart defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    34
  • GO References
    14
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
    826
  • Tissues
    62
  • cDNA Data
    104
  • Literature Summary
    14
Sequences &
Gene Models
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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
    IPR042299 Ufd1-like, Nn domain
Molecular
Reagents
less
  • All nucleic 125
    Genomic 18
    cDNA 104
    Primer pair 3

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-38398
References
more
  • Summaries
    All 116
    Developmental Gene Expression 14
    Diseases 4
    Gene Ontology 14
    Phenotypes 62
  • 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:342597 Rummell BP, et al., Altered corollary discharge signaling in the auditory cortex of a mouse model of schizophrenia predisposition. Nat Commun. 2023 Nov 15;14(1):7388
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
12/17/2024
MGI 6.24 		The Jackson Laboratory