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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 polyubiquitin modification-dependent protein binding activity. Involved in proteolysis involved in cellular protein catabolic process and regulation of cytokine production. Localizes to 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
GRCh38 Ensembl2219,449,911 - 19,479,202 (-)EnsemblGRCh38hg38GRCh38
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

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
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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

RGD Object Information
RGD ID: 732948
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-06-18
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.