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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 Protein 1 Homolog 3
  • 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 Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template and Metabolism of proteins. 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F019477 1.2 ENCODE 39.6 +0.0 46 3.8 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF207 UFD1L E2F6P1 SCARF2 LINC01311 LOC105372860 CDC45 TBX1 CLTCL1 RPL7AP70 ENSG00000273212
GH22F019418 1.7 FANTOM5 Ensembl ENCODE 27.1 +58.0 57989 6.6 HDGF PKNOX1 CREB3L1 ARNT FEZF1 ZNF766 KLF13 ZNF263 NFYC TBX21 UFD1L RPL7AP70 RPL8P5 ENSG00000273300 E2F6P1 CDC45 TBX1 CLTCL1 HIRA MRPL40
GH22F019360 1 Ensembl ENCODE 30.9 +117.6 117645 2.9 HDGF CTCF PKNOX1 EBF1 RELA POLR2A PRDM10 KLF13 CREM STAT1 UFD1L CLTCL1 LOC105372860 CDC45 SLC25A1 RN7SL168P LOC105372859
GH22F019429 1.2 ENCODE 25 +47.5 47523 4.7 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC RPL7AP70 DGCR8 UFD1L LINC01311 ENSG00000273300 DGCR11 C22orf29 E2F6P1 CLTCL1 RPL8P5
GH22F019463 0.7 ENCODE 37.6 +15.3 15275 1.8 SMARCE1 GTF2E2 NR4A1 JUN TSC22D4 NFXL1 POLR2H MBD2 ZNF121 GATA3 UFD1L E2F6P1 MRPL40 CLTCL1 ENSG00000273300 DGCR8 TSSK2 TSSK1A ENSG00000223461 DGCR2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000291193 96 3201 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF207

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

Post-translational modifications for UFD1L Gene

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

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:0005102 receptor binding IEA --
GO:0005515 protein binding IPI 11574150
GO:0032403 protein complex binding IEA --
GO:0036435 K48-linked polyubiquitin binding IEA --
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for UFD1L

Flow Cytometry 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UFD1L gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytosol 5
mitochondrion 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for UFD1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 21630459
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0034098 VCP-NPL4-UFD1 AAA ATPase complex ISS --
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

Pathways by source for UFD1L Gene

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:0001501 skeletal system development TAS 10024240
GO:0006511 ubiquitin-dependent protein catabolic process IEA,TAS 9063746
GO:0030970 retrograde protein transport, ER to cytosol IMP 25660456
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IEA --
GO:0070987 error-free translesion synthesis TAS --
genes like me logo Genes that share ontologies with UFD1L: view

No data available for SIGNOR curated interactions for UFD1L Gene

Transcripts for UFD1L Gene

Unigene Clusters for UFD1L Gene

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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for UFD1L

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for UFD1L Gene



Protein tissue co-expression partners for UFD1L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UFD1L Gene:

UFD1L

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

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
cow
(Bos Taurus)
Mammalia UFD1L 35
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UFD1L 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UFD1L 34 35
  • 92.07 (n)
chimpanzee
(Pan troglodytes)
Mammalia UFD1L 35
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ufd1l 34
  • 89.9 (n)
mouse
(Mus musculus)
Mammalia Ufd1l 34 16 35
  • 89.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia UFD1L 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves UFD1L 34 35
  • 82.19 (n)
lizard
(Anolis carolinensis)
Reptilia UFD1L 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ufd1l 34
  • 78.18 (n)
zebrafish
(Danio rerio)
Actinopterygii ufd1l 34 35
  • 77.2 (n)
-- 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2823 34
fruit fly
(Drosophila melanogaster)
Insecta Ufd1-like 36 34 35
  • 61.55 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001307 34
  • 57.86 (n)
worm
(Caenorhabditis elegans)
Secernentea ufd-1 34 35
  • 52.4 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UFD1 34 35 37
  • 50.12 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C02475g 34
  • 49.36 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR662C 34
  • 47.4 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons UFD1 34
  • 56 (n)
soybean
(Glycine max)
eudicotyledons Gma.5658 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.13110 34
rice
(Oryza sativa)
Liliopsida Os02g0181800 34
  • 56.94 (n)
Os.18010 34
barley
(Hordeum vulgare)
Liliopsida Hv.10937 34
wheat
(Triticum aestivum)
Liliopsida Ta.7484 34
corn
(Zea mays)
Liliopsida Zm.7574 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ufd1 34
  • 54.02 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06856 34
  • 53.36 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6884 34
Species where no ortholog for UFD1L was found in the sources mined by GeneCards:
  • 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
rs879255633 Pathogenic 19,481,044(+) AGAAC(A/G)GGTAT nc-transcript-variant, upstream-variant-2KB, reference, missense
rs10428063 -- 19,472,478(+) GGACG(C/T)CCCCT intron-variant
rs1057457 -- 19,451,642(-) AGTGG(A/G)GAGCC intron-variant, nc-transcript-variant
rs1059785 -- 19,467,954(-) GGAGA(C/G)CGTCA reference, missense
rs11089275 -- 19,456,345(+) CTCTT(C/T)GGTAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834127 CNV loss 17160897
nsv834124 CNV loss 17160897
nsv588216 CNV gain 21841781
nsv3558 CNV insertion 18451855
esv3893434 CNV gain 25118596
esv3575418 CNV gain 25503493
esv2751940 CNV gain 17911159

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 22 64
  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 22 46 64
  3. 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 4 22 64
  4. Ubiquitin-recognition protein Ufd1 couples the endoplasmic reticulum (ER) stress response to cell cycle control. (PMID: 21571647) Chen M. … Ronai Z.A. (Proc. Natl. Acad. Sci. U.S.A. 2011) 3 4 64
  5. The UFD1L rs5992403 polymorphism is associated with age at onset of schizophrenia. (PMID: 20471029) Ota V.K. … Smith M.d.e. .A. (J Psychiatr Res 2010) 3 46 64

Products for UFD1L Gene

  • Addgene plasmids for UFD1L

Sources for UFD1L Gene

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