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Gene: UFD1 (ubiquitin recognition factor in ER associated degradation 1) Homo sapiens
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Symbol: UFD1
Name: ubiquitin recognition factor in ER associated degradation 1
Description: Predicted to have thiol-dependent ubiquitin-specific protease activity. Involved in negative regulation of RIG-I signaling pathway; negative regulation of type I interferon production; and proteolysis involved in cellular protein catabolic process. Localizes to the UFD1-NPL4 complex and VCP-NPL4-UFD1 AAA ATPase complex. Implicated in DiGeorge syndrome and schizophrenia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: UB fusion protein 1; ubiquitin fusion degradation 1 like; ubiquitin fusion degradation 1 like (yeast); ubiquitin fusion degradation 1-like; ubiquitin fusion degradation protein 1 homolog; ubiquitin recognition factor in ER-associated degradation protein 1; UFD1L
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,449,911 - 19,479,193 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372219,437,464 - 19,466,818 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362217,817,701 - 17,846,726 (-)NCBINCBI36hg18NCBI36
Build 342217,812,394 - 17,841,280NCBI
Celera223,289,721 - 3,318,998 (-)NCBI
Cytogenetic Map22q11.21NCBI
HuRef223,058,276 - 3,087,551 (-)NCBIHuRef
CHM1_12219,437,034 - 19,466,309 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on UFD1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 732948
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-10-16
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.