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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
  • Gene Overview
    MyGene.info: UFD1
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:18811819-18835261 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • 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 Chr16:18811779-18835261 (.)
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
    8
  • Human Ortholog
    UFD1, ubiquitin recognition factor in ER associated degradation 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    UFD1L
  • Links
    NCBI Gene ID: 7353
    neXtProt AC: NX_Q92890
    UniProt: Q92890

  • Chr Location
    22q11.21; chr22:19449941-19479215 (-)  GRCh38.p7

Human Diseases
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  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    41 phenotype references
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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 22230 NCBI Gene Model | MGI Sequence Detail 23443 C57BL/6J ±  kb
transcript NM_011672 RefSeq | MGI Sequence Detail 1996 C57BL/6  
polypeptide P70362 UniProt | EBI | MGI Sequence Detail 307 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    9 Sequences
  • Protein Ontology
    PR:000017040 ubiquitin recognition factor in ER-associated degradation protein 1
  • InterPro Domains
    IPR004854 Ubiquitin fusion degradation protein Ufd1-like
Molecular
Reagents
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  • All nucleic 124
    Genomic 18
    cDNA 103
    Primer pair 3

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-38398
References
more
  • Summaries
    All 91
    Developmental Gene Expression 14
    Diseases 3
    Gene Ontology 10
    Phenotypes 41
  • 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:263198 Moutin E, et al., Palmitoylation of cdc42 Promotes Spine Stabilization and Rescues Spine Density Deficit in a Mouse Model of 22q11.2 Deletion Syndrome. Cereb Cortex. 2017 Jul 1;27(7):3618-3629

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
11/06/2018
MGI 6.13
The Jackson Laboratory