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UFD1L Gene

protein-coding   GIFtS: 66
GCID: GC22M019437

Ubiquitin Fusion Degradation 1 Like (Yeast)

(Previous name: ubiquitin fusion degradation 1-like)
  See UFD1L-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ubiquitin Fusion Degradation 1 Like (Yeast)1 2
UB Fusion Protein 12 3
Ubiquitin Fusion Degradation 1-Like1
UFD12
Ubiquitin Fusion Degradation Protein 1 Homolog2

External Ids:    HGNC: 125201   Entrez Gene: 73532   Ensembl: ENSG000000700107   OMIM: 6017545   UniProtKB: Q928903   

Export aliases for UFD1L gene to outside databases

Previous GC identifers: GC22M016377 GC22M017812 GC22M003058


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 digeorge syndrome, and velocardiofacial syndrome. GO annotations related to this gene include ubiquitin-specific protease activity and receptor binding.

UniProtKB/Swiss-Prot: UFD1_HUMAN, Q92890
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 Wiki entry for UFD1L Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the UFD1L gene promoter:
         Pax-2   NF-YC   Pax-2a   CBF-C   CBF-A   CBF-B   CP1C   CP1A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUFD1L promoter sequence
   Search Chromatin IP Primers for UFD1L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UFD1L


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.2

UFD1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UFD1L gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M019437:  view genomic region     (about GC identifiers)

Start:
19,437,433 bp from pter      End:
19,466,738 bp from pter
Size:
29,306 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: UFD1_HUMAN, Q92890 (See protein sequence)
Recommended Name: Ubiquitin fusion degradation protein 1 homolog  
Size: 307 amino acids; 34500 Da
Subunit: Heterodimer with NPLOC4, this heterodimer binds VCP and inhibits Golgi membrane fusion. Interacts with
USP13
1 PDB 3D structure from and Proteopedia for UFD1L:
2YUJ (3D)    
Secondary accessions: A8MW31 Q9Y5N0
Alternative splicing: 3 isoforms:  Q92890-2   Q92890-1   Q92890-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UFD1L: NX_Q92890

Explore proteomics data for UFD1L at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys45, Lys68, Lys175, Lys300, Lys303
  • Modification sites at PhosphoSitePlus

  • See UFD1L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001030324.2  NP_005650.2  

    ENSEMBL proteins: 
     ENSP00000263202   ENSP00000382439   ENSP00000402136   ENSP00000406680   ENSP00000418390  
     ENSP00000418295   ENSP00000354079  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR004854 UFD1

    Graphical View of Domain Structure for InterPro Entry Q92890

    ProtoNet protein and cluster: Q92890

    1 Blocks protein domain: IPB004854 Ubiquitin fusion degradation protein UFD1

    UniProtKB/Swiss-Prot: UFD1_HUMAN, Q92890
    Similarity: Belongs to the UFD1 family


    Find genes that share domains with UFD1L           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UFD1_HUMAN, Q92890
    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

         Genatlas biochemistry entry for UFD1L:
    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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004843ubiquitin-specific protease activity TAS9063746
    GO:0005102receptor binding IEA--
    GO:0005515protein binding IPI17681147
    GO:0032403protein complex binding IEA--
         
    Find genes that share ontologies with UFD1L           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for UFD1L:
     G0/1 arrest  Increased G1 DNA content 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Ufd1l):
     normal 

    Find genes that share phenotypes with UFD1L           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ufd1ltm1Bld for UFD1L

       genOway: Develop your customized and physiologically relevant rodent model for UFD1L

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    UFD1_HUMAN, Q92890: Nucleus (By similarity). Cytoplasm, cytosol (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    mitochondrion2
    nucleus2
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005829cytosol IEA--

    Find genes that share ontologies with UFD1L           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for UFD1L About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of degradation of deltaF508 CFTR in CF
    Regulation of degradation of wt CFTR0.59
    Regulation of degradation of deltaF508 CFTR in CF0.59
    2Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum


    Find genes that share SuperPaths with UFD1L           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for UFD1L
        Regulation of degradation of deltaF508 CFTR in CF
    Regulation of degradation of wt-CFTR



    1 Kegg Pathway  (Kegg details for UFD1L):
        Protein processing in endoplasmic reticulum

    UniProtKB/Swiss-Prot: UFD1_HUMAN, Q92890
    Pathway: Protein degradation; proteasomal ubiquitin-dependent pathway

        Pathway & Disease-focused RT2 Profiler PCR Array including UFD1L: 

              Unfolded Protein Response in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for UFD1L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for UFD1L (Q928902, 3 ENSP000002632024) via UniProtKB, MINT, STRING, and/or I2D (see all 131)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VCPP550722, 3, ENSP000003517774MINT-7903922 MINT-2837686 MINT-7903948 I2D: score=10 STRING: ENSP00000351777
    NSFL1CQ9UNZ22, 3, ENSP000002168794MINT-7903948 I2D: score=2 STRING: ENSP00000216879
    A2MP010232, 3MINT-8276706 I2D: score=2 
    F13A1P004882, 3MINT-8276732 I2D: score=2 
    MASP1P487402, 3MINT-8276765 I2D: score=2 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS10024240
    GO:0006511ubiquitin-dependent protein catabolic process TAS9063746
    GO:0043161proteasome-mediated ubiquitin-dependent protein catabolic process IEA--

    Find genes that share ontologies with UFD1L           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for UFD1L (UFD1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for UFD1L gene (2 alternative transcripts): 
    NM_001035247.2  NM_005659.6  

    Unigene Cluster for UFD1L:

    Ubiquitin fusion degradation 1 like (yeast)
    Hs.474213  [show with all ESTs]
    Unigene Representative Sequence: BF683698
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263202(uc002zpm.2 uc002zpo.2 uc010grq.2) ENST00000459854(uc011agy.1 uc002zpp.2)
    ENST00000399523 ENST00000466373 ENST00000447868 ENST00000421968 ENST00000484101
    ENST00000489406 ENST00000494054 ENST00000474226 ENST00000360834
    miRNA
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    hsa-miR-548t hsa-miR-618 hsa-miR-3157-5p
    SwitchGear 3'UTR luciferase reporter plasmidUFD1L 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat UFD1L

    Additional mRNA sequence: 

    AF141201.1 AJ239058.1 AK225877.1 AK304734.1 AK308786.1 AK310950.1 AK315998.1 AY101594.1 
    BC001049.2 BC005087.1 CR456607.1 

    21 DOTS entries:

    DT.97861046  DT.454946  DT.100815868  DT.100045664  DT.75173115  DT.100815869  DT.75200335  DT.91891011 
    DT.100815872  DT.101961634  DT.97861048  DT.100032361  DT.100719583  DT.101982921  DT.120652521  DT.120652530 
    DT.75171765  DT.404420  DT.75110689  DT.91695531  DT.97786207 

    Selected AceView cDNA sequences (see all 385):

    BM811052 CB129511 AI125451 BE531063 AJ239058 W73063 BM555231 NM_005659 
    BM794834 N39866 BQ710818 CA772012 AA354561 CA422626 CR456607 CB154783 
    BI905890 BM552525 AA565750 CB156445 BC001049 CK821955 AW273332 AK128120 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for UFD1L    About this scheme

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


    ECgene alternative splicing isoforms for UFD1L

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    UFD1L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGAGTCGAC
    UFD1L Expression
    About this image


    UFD1L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Bone (Muscoskeletal System)
             Bone Marrow
    UFD1L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UFD1L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.474213

    UniProtKB/Swiss-Prot: UFD1_HUMAN, Q92890
    Tissue specificity: Found in adult heart, skeletal muscle and pancreas, and in fetal liver and kidney

        Pathway & Disease-focused RT2 Profiler PCR Array including UFD1L: 
              Unfolded Protein Response in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UFD1L

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UFD1L gene from Selected species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ufd1l1 , 5 ubiquitin fusion degradation 1 like1, 5 89.25(n)1
    98.7(a)1
      16 (11.65 cM)5
    222301  NM_011672.41  NP_035802.31 
     188117795 
    chicken
    (Gallus gallus)
    Aves UFD1L1 ubiquitin fusion degradation 1 like (yeast) 82.19(n)
    94.79(a)
      374186  NM_204301.1  NP_989632.1 
    lizard
    (Anolis carolinensis)
    Reptilia UFD1L6
    ubiquitin fusion degradation 1 like (yeast)
    93(a)
    1 ↔ 1
    GL343282.1(1475340-1493735)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC061930.12   -- 77.93(n)    BC061930.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CK398832.12   -- 82.02(n)   325109  CK398832.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ufd1-like1 , 3 ubiquitin-dependent protein catabolism3
    Ubiquitin fusion-degradation 1-like1
    50(a)3
    61.55(n)1
    61.43(a)1
      68A73
    392541  NM_079299.41  NP_524023.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ufd-11 ufd-1 52.4(n)
    46.21(a)
      3565860  NM_069947.3  NP_502348.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UFD1(YGR048W)4
    UFD11
    Protein that interacts with Cdc48p and Npl4p, involved more4
    UFD11
    50.12(n)1
    44.76(a)1
      7(589826-590911)4
    8529391, 4  NP_011562.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons UFD11 UFD1 56(n)
    53.78(a)
      816666  NM_127699.4  NP_565504.1 
    rice
    (Oryza sativa)
    Liliopsida Os.180102 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 72.12(n)    AK121784.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UFD1L gene

    Find genes that share paralogs with UFD1L           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for UFD1L
    PGOHUM00000234905


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for UFD1L (see all 524)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1379376331,2
    C--19437761(+) TTTTT-/TAGGCC 2 -- ut310--------
    rs20737311,2
    C,F,A,H--19437938(-) TTCACG/ACTTTC 2 -- ut31 ese316Minor allele frequency- A:0.28NS EA NA 2184
    rs20737301,2
    C,F,A,H--19437946(-) CTCACC/GTCTTC 2 -- ut31 ese38Minor allele frequency- G:0.28NS EA NA WA 746
    rs1119625181,2
    F--19438101(+) TCTCTG/AATGAG 2 -- ut312Minor allele frequency- A:0.50CSA 4
    rs1462899961,2
    --19438108(+) TGAGGA/CTCGTC 2 -- ut310--------
    rs1998132451,2
    --19438220(+) CGCAAA/TGACTG 3 S syn1 ut310--------
    rs2017061831,2
    --19438264(+) AGCTTC/TATCCT 4 K E * mis1 syn10--------
    rs751098051,2
    C--19438305(+) ACTCCC/G/TTGGAG 2 -- int11NA 2
    rs1145445551,2
    C--19438335(+) CTCTAC/TGGACT 2 -- int10--------
    rs81371661,2
    C,F,A,H--19438344(+) CTCACG/ATACCA 2 -- int114Minor allele frequency- A:0.21NS EA NA WA CSA 1308

    HapMap Linkage Disequilibrium report for UFD1L (19437433 - 19466738 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for UFD1L:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv435744CNV Deletion17901297
    nsv3558CNV Insertion18451855
    dgv4839n71CNV Loss21882294
    nsv834127CNV Loss17160897
    nsv834124CNV Loss17160897
    dgv4840n71CNV Loss21882294
    nsv914263CNV Gain21882294
    esv2751940CNV Gain17911159

    Human Gene Mutation Database (HGMD): UFD1L
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UFD1L
    DNA2.0 Custom Variant and Variant Library Synthesis for UFD1L

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601754    OMIM disorders: --

    3 diseases for UFD1L:    
    About MalaCards
    digeorge syndrome    velocardiofacial syndrome    tetralogy of fallot

    2 diseases from the University of Copenhagen DISEASES database for UFD1L:
    Velocardiofacial syndrome     DiGeorge syndrome

    Find genes that share disorders with UFD1L           About GenesLikeMe

    3 Novoseek inferred disease relationships for UFD1L gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    velocardiofacial syndrome 86.9 5 11574150 (1), 10364538 (1), 11435701 (1), 12910480 (1)
    digeorge syndrome 84 2 11574150 (1), 10364538 (1)
    velo-cardio-facial syndrome 81.9 1 9540831 (1)

    Genetic Association Database (GAD): UFD1L
    Human Genome Epidemiology (HuGE) Navigator: UFD1L (3 documents)

    Export disorders for UFD1L gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for UFD1L gene, integrated from 10 sources (see all 90):
    (articles sorted by number of sources associating them with UFD1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. (PubMed id 9063746)1, 2, 3, 9 Pizzuti A....Dallapiccola B. (Hum. Mol. Genet. 1997)
    2. Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L). (PubMed id 11574150)1, 2, 9 Botta A....Novelli G. (Gene 2001)
    3. A family- and population-based study of the UFD1L gene for schizophrenia. (PubMed id 18270977)1, 4, 9 Xie L....Wei J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)
    4. Ubiquitin-recognition protein Ufd1 couples the endoplasmic reticulum (ER) stress response to cell cycle control. (PubMed id 21571647)1, 2 Chen M.... Ronai Z.A. (Proc. Natl. Acad. Sci. U.S.A. 2011)
    5. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    6. The UFD1L rs5992403 polymorphism is associated with age at onset of schizophrenia. (PubMed id 20471029)1, 4 Ota V.K....Smith M.d.e. .A. (J Psychiatr Res 2010)
    7. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies. (PubMed id 12910480)1, 9 Amati F....Novelli G. (Cell Biochem. Funct. 2003)
    10. Functional characterization of the 5' flanking region of human ubiquitin fusion degradation 1 like gene (UFD1L). (PubMed id 11979512)1, 9 Amati F....Novelli G. (Cell Biochem. Funct. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7353 HGNC: 12520 AceView: UFD1L Ensembl:ENSG00000070010 euGenes: HUgn7353
    ECgene: UFD1L Kegg: 7353 H-InvDB: UFD1L

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for UFD1L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UFD1L gene:
    Search GeneIP for patents involving UFD1L

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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