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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UFL1 Gene

protein-coding   GIFtS: 47
GCID: GC06P096969

UFM1-specific ligase 1

(Previous name: KIAA0776 )
(Previous symbol: KIAA0776)
 Explore 2 diseases affiliated with
UFL1 via our new
 Human Malady Compendium 
Biological research products
for UFL1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
UFM1-Specific Ligase 11 2     RP3-393D12.12
KIAA07761 2 3 5     E3 UFM1-Protein Ligase 12
NLBP1 2 3 5     Novel LZAP-Binding Protein2
Maxer1 2     Regulator Of CDK5RAP3 And DDRGK12
RCAD1 2     EC 6.3.2.-3
LZAP-Binding Protein2 3     

External Ids:    HGNC: 230391   Entrez Gene: 233762   Ensembl: ENSG000000141237   OMIM: 6133725   UniProtKB: O948743   

Export aliases for UFL1 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: UFL1_HUMAN, O94874
Function: E3 UFM1-protein ligase that mediates ufmylation of target proteins such as DDRGK1/C20orf116. The function of
ufmylation is unknown. May act as a tumor suppressor by inhibiting cell invasion, blocking NF-kappa-B signaling and
increasing stability of CDK5RAP3




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for UFL1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for UFL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UFL1


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

Entrez Gene cytogenetic band: 6q16.1   Ensembl cytogenetic band:  6q16.1   HGNC cytogenetic band: 6q16.3

UFL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UFL1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P096969:  view genomic region     (about GC identifiers)

Start:
96,969,471 bp from pter      End:
97,003,152 bp from pter
Size:
33,682 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: UFL1_HUMAN, O94874 (See protein sequence)
Recommended Name: E3 UFM1-protein ligase 1  
Size: 794 amino acids; 89595 Da
Subunit: Interacts with DDRGK1/C20orf116 and UFC1. Interacts with CDK5RAP3. Interacts with RELA
Subcellular location: Endoplasmic reticulum. Cytoplasm. Note=In cytoplasm colocalizes with CDK5RAP3
Sequence caution: Sequence=AAH15377.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A
sequence; Sequence=BAA34496.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A0PJ53 B4DJ57 C0H5X5 Q8N765 Q9NTQ0
Alternative splicing: 3 isoforms:  O94874-1   O94874-2   O94874-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UFL1: NX_O94874

Post-translational modifications:

  • Ubiquitinated, leading to its degradation by the proteasome. Interaction with CDK5RAP3 protects each other against
  • ubiquitination and degradation via the proteasome1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O94874

  • UFL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_056138.1  
    ENSEMBL proteins: 
     ENSP00000358283  

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    Uscn Proteins for UFL1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005783endoplasmic reticulum IDA--


    UFL1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    UFL1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR018611 E3_UFM1_ligase_1

    Graphical View of Domain Structure for InterPro Entry O94874

    ProtoNet protein and cluster: O94874

    UniProtKB/Swiss-Prot: UFL1_HUMAN, O94874
    Similarity: Belongs to the UFL1 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: UFL1_HUMAN, O94874
    Function: E3 UFM1-protein ligase that mediates ufmylation of target proteins such as DDRGK1/C20orf116. The function of
    ufmylation is unknown. May act as a tumor suppressor by inhibiting cell invasion, blocking NF-kappa-B signaling and
    increasing stability of CDK5RAP3

    Enzyme Number (IUBMB): EC 6.3.2.-1

    miRNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0071568UFM1 conjugating enzyme activity IDA--


    UFL1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for UFL1:
     Decreased nuclei size in G2M 

    Animal Models:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Ufl1):
     mortality/aging 

    UFL1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UFL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/28 Interacting proteins for UFL1 (O948741, 3 ENSP000003582834) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CASP4P496621, 3, ENSP000003885664EBI-1048088,EBI-1057327 I2D: score=2 STRING: ENSP00000388566
    CDK5RAP3Q96JB51, 3, ENSP000003446834EBI-1048088,EBI-718818 I2D: score=2 STRING: ENSP00000344683
    DDRGK1Q96HY63, ENSP000003464834I2D: score=5 STRING: ENSP00000346483
    PHLDA3Q9Y5J53, ENSP000003562784I2D: score=1 STRING: ENSP00000356278
    PTP4A3O753653, ENSP000003322744I2D: score=1 STRING: ENSP00000332274
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031397negative regulation of protein ubiquitination IDA--
    GO:0032088negative regulation of NF-kappaB transcription factor activity IMP--
    GO:0071569protein ufmylation IDA--


    UFL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UFL1
    Search CenterWatch for drugs/clinical trials and news about UFL1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for UFL1 gene: 
    NM_015323.4  

    Unigene Cluster for UFL1:

    UFM1-specific ligase 1
    Hs.149367  [show with all ESTs]
    Unigene Representative Sequence: BX538302
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000461673 ENST00000369278(uc003por.3 uc010kck.3)

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    Additional cDNA sequence: 

    AB018319.1 AJ420579.1 AK055697.1 AK295934.1 AK307651.1 AK316453.1 BC015377.1 BC036379.2 
    BX538302.1 

    8 DOTS entries:

    DT.448334  DT.206239  DT.99992307  DT.100785208  DT.91741793  DT.75169597  DT.95376072  DT.75114269 

    24/169 AceView cDNA sequences (see all 169):

    AA676712 BC015377 AA760795 CA440028 CD678436 AI338796 CA435886 BX509113 
    BM310736 BX508980 BU620002 AW014939 AW001778 AI288630 AA215638 BM699695 
    CR609694 CD242586 AI699759 AA291269 R59611 AI075742 CB250518 H88035 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for UFL1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20
    SP1:                    -                                                                 -                       -                                             
    SP2:                    -                                                                 -                                                                     
    SP3:                    -                                                                                                                                       
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            


    ECgene alternative splicing isoforms for UFL1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UFL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTGTGTCAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    UFL1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSecondary SpermatocyteGerm Cells, Male Gametocytes
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See UFL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UFL1

    SOURCE GeneReport for Unigene cluster: Hs.149367

    UniProtKB/Swiss-Prot: UFL1_HUMAN, O94874
    Tissue specificity: Ubiquitously expressed, with a high expression in liver (at protein level). Low expression in
    several invasive hepatocellular carcinomas, such Hep-G2, Hep 3B2.1-7, HLE and PLC

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    In Situ
    Assay Products:
     

     
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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UFL1 gene from 8/27 species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ufl11 , 5 RIKEN cDNA 1810074P20 gene5
    UFM1 specific ligase 11
    87.01(n)1
    90.67(a)1
      4 (10.59 cM)5
    674901  NM_026194.41  NP_080470.21 
     252486005 
    chicken
    (Gallus gallus)
    Aves KIAA07761 KIAA0776 75.63(n)
    75.63(a)
      421804  NM_001103201.1  NP_001096671.1 
    lizard
    (Anolis carolinensis)
    Reptilia UFL16
    --
    75(a)
    1 ↔ 1
    GL343294.1(2250-38337)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc635622 hypothetical protein MGC63562 73.14(n)   393578  BC056784.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG11041 CG1104 48.02(n)
    38.67(a)
      40843  NM_141433.2  NP_649690.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C06G3.91 Protein C06G3.9 42.1(n)
    26.01(a)
      177471  NM_068689.4  NP_501090.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G462201 E3 UFM1-protein ligase 1-like protein 43.5(n)
    28.41(a)
      823767  NM_001203091.1  NP_001190020.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g01176001 hypothetical protein 43.73(n)
    29.6(a)
      9266232  NM_001187255.1  NP_001174184.1 


    ENSEMBL Gene Tree for UFL1 (if available)
    TreeFam Gene Tree for UFL1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/584 NCBI SNPs in UFL1 are shown (see all 584    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1422205701,2
    --96967705(+) ATCAGC/GGTAAA 1 -- us2k10--------
    rs1891512781,2
    --96967786(+) GTACAA/GTTGAA 1 -- us2k10--------
    rs1467549701,2
    --96967805(+) GACTGC/TACTTC 1 -- us2k10--------
    rs1403620101,2
    --96967881(+) AGCAAA/CTCCAT 1 -- us2k10--------
    rs1454334281,2
    --96967923(+) GAAAAA/CAAAAA 1 -- us2k10--------
    rs1142961711,2
    --96967982(+) ACCTAT/CAGTTA 1 -- us2k11Minor allele frequency- C:0.01WA 118
    rs1429545401,2
    C,--96968145(+) CTGGT-/GGGGGT 1 -- us2k10--------
    rs1807207981,2
    --96968392(+) CCCTAA/TTCAAG 1 -- us2k10--------
    rs1860237691,2
    --96968445(+) CTGCTC/GTGCTA 1 -- us2k10--------
    rs111530231,2
    C,F,A,H,--96968525(+) ATGAAC/TTCCAA 1 -- us2k123Minor allele frequency- T:0.12NS EA NA WA 2768

    HapMap Linkage Disequilibrium report for UFL1 (96969471 - 97003152 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for UFL1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing UFL1
    DNA2.0 Custom Variant and Variant Library Synthesis for UFL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    UFL1 for disorders           About GeneDecksing

    OMIM gene information: 613372    OMIM disorders: --

    2 diseases for UFL1:    About MalaCards
    hepatocellular carcinoma    carcinoma


    Export disorders for UFL1 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 UFL1 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with UFL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel LZAP-binding protein, NLBP, inhibits cell inv asion. (PubMed id 20164180)1, 2, 3 Kwon J....Kim H. (2010)
    2. A novel type of E3 ligase for the Ufm1 conjugation system. (PubMed id 20018847)1, 2, 3 Tatsumi K.... Komatsu M. (2010)
    3. Suppression of the novel ER protein Maxer by mutant a taxin-1 in Bergman glia contributes to non-cell-autonomous toxicity. (PubMed id 20531390)1, 3 Shiwaku H....Okazawa H. (2010)
    4. A novel C53/LZAP-interacting protein regulates stabil ity of C53/LZAP and DDRGK domain-containing Protein 1 (DDRGK1) and modulates NF -kappaB signaling. (PubMed id 20228063)1, 3 Wu J....Li H. (2010)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    6. 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. (2004)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    8. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9872452)1, 2 Nagase T.... Ohara O. (1998)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23376 HGNC: 23039 AceView: KIAA0776 Ensembl:ENSG00000014123 euGenes: HUgn23376
    ECgene: UFL1 H-InvDB: UFL1

    (According to HUGE)
    About This Section
    HUGE: KIAA0776

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for UFL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for UFL1 gene:
    Search GeneIP for patents involving UFL1

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



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