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Aliases for UFD1L Gene

Aliases for UFD1L Gene

  • Ubiquitin Fusion Degradation 1 Like (Yeast) 2 3 5
  • UB Fusion Protein 1 3 4
  • Ubiquitin Fusion Degradation 1-Like 2
  • UFD1 3

External Ids for UFD1L Gene

Previous GeneCards Identifiers for UFD1L Gene

  • GC22M016377
  • GC22M017812
  • GC22M003058

Summaries for UFD1L Gene

Entrez Gene Summary for UFD1L Gene

  • The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Jun 2009]

GeneCards Summary for UFD1L Gene

UFD1L (Ubiquitin Fusion Degradation 1 Like (Yeast)) is a Protein Coding gene. Diseases associated with UFD1L include Velocardiofacial Syndrome and Digeorge Syndrome. Among its related pathways are Regulation of degradation of deltaF508 CFTR in CF and DNA Double-Strand Break Repair. GO annotations related to this gene include receptor binding and thiol-dependent ubiquitin-specific protease activity.

UniProtKB/Swiss-Prot for UFD1L Gene

  • Essential component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. The ternary complex containing UFD1L, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1L-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. It may be involved in the development of some ectoderm-derived structures.

Gene Wiki entry for UFD1L Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UFD1L Gene

Genomics for UFD1L Gene

Regulatory Elements for UFD1L Gene

Enhancers for UFD1L Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around UFD1L on UCSC Golden Path with GeneCards custom track

Promoters for UFD1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UFD1L on UCSC Golden Path with GeneCards custom track

Genomic Location for UFD1L Gene

Chromosome:
22
Start:
19,449,910 bp from pter
End:
19,479,296 bp from pter
Size:
29,387 bases
Orientation:
Minus strand

Genomic View for UFD1L Gene

Genes around UFD1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UFD1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UFD1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UFD1L Gene

Proteins for UFD1L Gene

  • Protein details for UFD1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92890-UFD1_HUMAN
    Recommended name:
    Ubiquitin fusion degradation protein 1 homolog
    Protein Accession:
    Q92890
    Secondary Accessions:
    • A8MW31
    • Q9Y5N0

    Protein attributes for UFD1L Gene

    Size:
    307 amino acids
    Molecular mass:
    34500 Da
    Quaternary structure:
    • Heterodimer with NPLOC4, this heterodimer binds VCP and inhibits Golgi membrane fusion. Interacts with USP13.

    Three dimensional structures from OCA and Proteopedia for UFD1L Gene

    Alternative splice isoforms for UFD1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UFD1L Gene

Proteomics data for UFD1L Gene at MOPED

Post-translational modifications for UFD1L Gene

  • Ubiquitination at Lys 45, Lys 68, Lys 175, Lys 300, and Lys 303
  • Modification sites at PhosphoSitePlus

Other Protein References for UFD1L Gene

No data available for DME Specific Peptides for UFD1L Gene

Domains & Families for UFD1L Gene

Protein Domains for UFD1L Gene

Suggested Antigen Peptide Sequences for UFD1L Gene

Graphical View of Domain Structure for InterPro Entry

Q92890

UniProtKB/Swiss-Prot:

UFD1_HUMAN :
  • Belongs to the UFD1 family.
Family:
  • Belongs to the UFD1 family.
genes like me logo Genes that share domains with UFD1L: view

No data available for Gene Families for UFD1L Gene

Function for UFD1L Gene

Molecular function for UFD1L Gene

GENATLAS Biochemistry:
yeast ubiquitin fusion-degradation protein-1 homolog,potential housekeeping gene,ubiquitously expressed,with multiple protein isoforms,deleted but not mutated in DiGeorge syndrome (CATCH22),activated by HAND2 and involved in controlling neural crest development
UniProtKB/Swiss-Prot Function:
Essential component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. The ternary complex containing UFD1L, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1L-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. It may be involved in the development of some ectoderm-derived structures.

Gene Ontology (GO) - Molecular Function for UFD1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004843 thiol-dependent ubiquitin-specific protease activity TAS 9063746
GO:0005515 protein binding IPI 11574150
genes like me logo Genes that share ontologies with UFD1L: view
genes like me logo Genes that share phenotypes with UFD1L: view

Human Phenotype Ontology for UFD1L Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for UFD1L Gene

MGI Knock Outs for UFD1L:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for UFD1L Gene

Localization for UFD1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for UFD1L Gene

Nucleus. Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UFD1L Gene COMPARTMENTS Subcellular localization image for UFD1L gene
Compartment Confidence
cytosol 5
nucleus 5
endoplasmic reticulum 4
mitochondrion 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for UFD1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with UFD1L: view

Pathways & Interactions for UFD1L Gene

genes like me logo Genes that share pathways with UFD1L: view

UniProtKB/Swiss-Prot Q92890-UFD1_HUMAN

  • Pathway: Protein degradation; proteasomal ubiquitin-dependent pathway.

Gene Ontology (GO) - Biological Process for UFD1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030970 retrograde protein transport, ER to cytosol IMP 25660456
GO:0071712 ER-associated misfolded protein catabolic process IMP 24089527
genes like me logo Genes that share ontologies with UFD1L: view

No data available for SIGNOR curated interactions for UFD1L Gene

Drugs & Compounds for UFD1L Gene

No Compound Related Data Available

Transcripts for UFD1L Gene

Unigene Clusters for UFD1L Gene

Ubiquitin fusion degradation 1 like (yeast):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for UFD1L Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13
SP1: - - - -
SP2: -
SP3: - - -
SP4: -
SP5:

Relevant External Links for UFD1L Gene

GeneLoc Exon Structure for
UFD1L
ECgene alternative splicing isoforms for
UFD1L

Expression for UFD1L Gene

mRNA expression in normal human tissues for UFD1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UFD1L Gene

This gene is overexpressed in Lavage (8.0) and Peripheral blood mononuclear cells (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for UFD1L Gene



SOURCE GeneReport for Unigene cluster for UFD1L Gene Hs.474213

mRNA Expression by UniProt/SwissProt for UFD1L Gene

Q92890-UFD1_HUMAN
Tissue specificity: Found in adult heart, skeletal muscle and pancreas, and in fetal liver and kidney.
genes like me logo Genes that share expression patterns with UFD1L: view

Protein tissue co-expression partners for UFD1L Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for UFD1L Gene

Orthologs for UFD1L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UFD1L Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia UFD1L 35
  • 92.07 (n)
  • 99.67 (a)
UFD1L 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ufd1l 35
  • 89.25 (n)
  • 98.7 (a)
Ufd1l 16
Ufd1l 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ufd1l 35
  • 89.9 (n)
  • 98.7 (a)
cow
(Bos Taurus)
Mammalia UFD1L 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UFD1L 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UFD1L 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UFD1L 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves UFD1L 35
  • 82.19 (n)
  • 94.79 (a)
UFD1L 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UFD1L 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ufd1l 35
  • 78.18 (n)
  • 90.88 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
ufd1l 35
  • 77.2 (n)
  • 86.97 (a)
ufd1l 36
  • 86 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2823 35
fruit fly
(Drosophila melanogaster)
Insecta Ufd1-like 37
  • 50 (a)
Ufd1-like 35
  • 61.55 (n)
  • 61.43 (a)
Ufd1-like 36
  • 57 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001307 35
  • 57.86 (n)
  • 59.2 (a)
worm
(Caenorhabditis elegans)
Secernentea ufd-1 35
  • 52.4 (n)
  • 46.21 (a)
ufd-1 36
  • 36 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR662C 35
  • 47.4 (n)
  • 42.91 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C02475g 35
  • 49.36 (n)
  • 40.07 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UFD1 35
  • 50.12 (n)
  • 44.76 (a)
UFD1 36
  • 34 (a)
OneToOne
UFD1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons UFD1 35
  • 56 (n)
  • 53.78 (a)
soybean
(Glycine max)
eudicotyledons Gma.5658 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.13110 35
barley
(Hordeum vulgare)
Liliopsida Hv.10937 35
rice
(Oryza sativa)
Liliopsida Os.18010 35
Os02g0181800 35
  • 56.94 (n)
  • 53.24 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.7484 35
corn
(Zea mays)
Liliopsida Zm.7574 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6884 35
bread mold
(Neurospora crassa)
Ascomycetes NCU06856 35
  • 53.36 (n)
  • 46.35 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ufd1 35
  • 54.02 (n)
  • 48.21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
OneToOne
Species with no ortholog for UFD1L:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for UFD1L Gene

ENSEMBL:
Gene Tree for UFD1L (if available)
TreeFam:
Gene Tree for UFD1L (if available)

Paralogs for UFD1L Gene

Pseudogenes.org Pseudogenes for UFD1L Gene

genes like me logo Genes that share paralogs with UFD1L: view

No data available for Paralogs for UFD1L Gene

Variants for UFD1L Gene

Sequence variations from dbSNP and Humsavar for UFD1L Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs17744624 - 19,467,907(+) GTCAG(C/G)GCTCT reference, missense
rs3330 -- 19,455,757(+) CCAGA(G/T)CCAGA reference, synonymous-codon
rs2238769 -- 19,466,204(+) CGGTA(C/G)GAAGT intron-variant
rs2238770 -- 19,470,220(+) CCAGG(C/T)TGGGC intron-variant
rs2238771 -- 19,470,232(+) GGCCT(A/G)GTCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UFD1L Gene

Variant ID Type Subtype PubMed ID
nsv435744 CNV Deletion 17901297
nsv914263 CNV Gain 21882294
nsv834124 CNV Loss 17160897
nsv834127 CNV Loss 17160897
dgv4839n71 CNV Loss 21882294
dgv4840n71 CNV Loss 21882294
esv2751940 CNV Gain 17911159
nsv3558 CNV Insertion 18451855

Variation tolerance for UFD1L Gene

Residual Variation Intolerance Score: 24.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.09; 50.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UFD1L Gene

Human Gene Mutation Database (HGMD)
UFD1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UFD1L Gene

Disorders for UFD1L Gene

MalaCards: The human disease database

(5) MalaCards diseases for UFD1L Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search UFD1L in MalaCards View complete list of genes associated with diseases

Relevant External Links for UFD1L

Genetic Association Database (GAD)
UFD1L
Human Genome Epidemiology (HuGE) Navigator
UFD1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UFD1L
genes like me logo Genes that share disorders with UFD1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UFD1L Gene

Publications for UFD1L Gene

  1. UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. (PMID: 9063746) Pizzuti A. … Dallapiccola B. (Hum. Mol. Genet. 1997) 2 3 4 23 67
  2. A family- and population-based study of the UFD1L gene for schizophrenia. (PMID: 18270977) Xie L. … Wei J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008) 3 23
  3. Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies. (PMID: 12910480) Amati F. … Novelli G. (Cell Biochem. Funct. 2003) 3 23
  4. Functional characterization of the 5' flanking region of human ubiquitin fusion degradation 1 like gene (UFD1L). (PMID: 11979512) Amati F. … Novelli G. (Cell Biochem. Funct. 2002) 3 23
  5. Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L). (PMID: 11574150) Botta A. … Novelli G. (Gene 2001) 3 23

Products for UFD1L Gene

Sources for UFD1L Gene

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