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

OBFC1 Gene

protein-coding   GIFtS: 48
GCID: GC10M105632

oligonucleotide/oligosaccharide-binding fold containing...

 Explore 4 diseases affiliated with
OBFC1 via our new
 Human Malady Compendium 
Biological research products
for OBFC1
    

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

Aliases
Oligonucleotide/Oligosaccharide-Binding Fold Containing 11 2     AAF-442
STN12 3 5     RP11-541N10.22
BA541N10.21     RPA-322
Oligonucleotide/Oligosaccharide-Binding Fold-Containing Protein 12 3     Alpha Accessory Factor 442
Suppressor Of Cdc Thirteen Homolog2 3     CST Complex Subunit STN12
AAF442 5     Replication Protein A 32 KDa Subunit2
FLJ225591     

External Ids:    HGNC: 262001   Entrez Gene: 799912   Ensembl: ENSG000001079607   OMIM: 6131285   UniProtKB: Q9H6683   

Export aliases for OBFC1 gene to outside databases

Previous GC identifers: GC10M105307 GC10M099268


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

Entrez Gene summary for OBFC1:
OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA
polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 (PubMed
19119139)). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM
613130) (Miyake et al., 2009 (PubMed 19854130)).(supplied by OMIM, Nov 2009)

UniProtKB/Swiss-Prot: STN1_HUMAN, Q9H668
Function: Component of the CST complex, a complex that binds to single-stranded DNA and is required to protect
telomeres from DNA degradation. The CST complex binds single-stranded DNA with high affinity in a sequence-independent
manner, while isolated subunits bind DNA with low affinity by themselves. In addition to telomere protection, the CST
complex has probably a more general role in DNA metabolism at non-telomeric sites




(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_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the OBFC1 gene promoter:
         HOXA9B   HOXA9   LHX3b/Lhx3b   Tal-1   Meis-1b   E47   LHX3a/Lhx3a   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOBFC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for OBFC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OBFC1


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

Entrez Gene cytogenetic band: 10q24.33   Ensembl cytogenetic band:  10q24.33   HGNC cytogenetic band: 10q25.1

OBFC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OBFC1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M105632:  view genomic region     (about GC identifiers)

Start:
105,637,316 bp from pter      End:
105,678,045 bp from pter
Size:
40,730 bases      Orientation:
minus 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: STN1_HUMAN, Q9H668 (See protein sequence)
Recommended Name: CST complex subunit STN1  
Size: 368 amino acids; 42119 Da
Subunit: Component of the CST complex, composed of TEN1/C17orf106, CTC1/C17orf68 and STN1/OBFC1. Interacts with
TEN1/C17orf106 and CTC1/C17orf68; the interaction is direct. Interacts with ACD/TPP1
Subcellular location: Nucleus. Chromosome, telomere
Secondary accessions: D3DR99 Q5TCZ0

Explore the universe of human proteins at neXtProt for OBFC1: NX_Q9H668

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H668

  • OBFC1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_079204.2  
    ENSEMBL proteins: 
     ENSP00000224950   ENSP00000358779  

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    Uscn Proteins for OBFC1

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000784nuclear chromosome, telomeric region IDA19648609
    GO:0005634nucleus ISS--
    GO:0005730NOT nucleolus IDA--
    GO:0043231intracellular membrane-bounded organelle IDA--
    GO:0045111intermediate filament cytoskeleton IDA--


    OBFC1 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

    OBFC1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR015253 DUF1879_CST_STN1
     IPR012340 NA-bd_OB-fold
     IPR004365 NA-bd_OB_tRNA-helicase
     IPR014647 CST_STN1

    Graphical View of Domain Structure for InterPro Entry Q9H668

    ProtoNet protein and cluster: Q9H668

    1 Blocks protein family: IPB004365 OB-fold nucleic acid binding domain

    UniProtKB/Swiss-Prot: STN1_HUMAN, Q9H668
    Similarity: Belongs to the STN1 family
    Similarity: Contains 1 OB DNA-binding domain


    (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: STN1_HUMAN, Q9H668
    Function: Component of the CST complex, a complex that binds to single-stranded DNA and is required to protect
    telomeres from DNA degradation. The CST complex binds single-stranded DNA with high affinity in a sequence-independent
    manner, while isolated subunits bind DNA with low affinity by themselves. In addition to telomere protection, the CST
    complex has probably a more general role in DNA metabolism at non-telomeric sites

    miRNA
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    hsa-miR-486-3p hsa-miR-449a hsa-miR-9 hsa-miR-629* hsa-miR-3622b-3p hsa-miR-4330 hsa-miR-3148 hsa-miR-616
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003697single-stranded DNA binding ISS--
    GO:0005515protein binding IPI19648609
    GO:0043047single-stranded telomeric DNA binding IDA19648609


    OBFC1 for ontologies           About GeneDecksing


    5 GenomeRNAi human phenotypes for OBFC1:
     Cell division defect  Cells with protrusions  Decreased viability with pacli  Increased S DNA content 
     Increased number of mitotic ce 


    (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 OBFC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/24 Interacting proteins for OBFC1 (Q9H6682, 3 ENSP000002249504) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TUBGCP4Q9UGJ12, 3, ENSP000002603834MINT-66945 I2D: score=4 STRING: ENSP00000260383
    MED1Q156483, ENSP000003006514I2D: score=1 STRING: ENSP00000300651
    MED14O602443, ENSP000003237204I2D: score=1 STRING: ENSP00000323720
    MED16Q9Y2X03, ENSP000003256124I2D: score=1 STRING: ENSP00000325612
    MED30Q96HR33, ENSP000002973474I2D: score=1 STRING: ENSP00000297347
    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:0000723telomere maintenance IMP19854130
    GO:0010833telomere maintenance via telomere lengthening IMP19648609
    GO:0045740positive regulation of DNA replication ISS--


    OBFC1 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 OBFC1
    Search CenterWatch for drugs/clinical trials and news about OBFC1 / STN1 

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 OBFC1 gene: 
    NM_024928.4  

    Unigene Cluster for OBFC1:

    Oligonucleotide/oligosaccharide-binding fold containing 1
    Hs.62314  [show with all ESTs]
    Unigene Representative Sequence: NM_024928
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000224950(uc001kxm.3) ENST00000369764(uc001kxl.3) ENST00000466828
    ENST00000472951

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    8/38 QIAGEN miScript miRNA Assays for microRNAs that regulate OBFC1 (see all 38):
    hsa-miR-486-3p hsa-miR-449a hsa-miR-9 hsa-miR-629* hsa-miR-3622b-3p hsa-miR-4330 hsa-miR-3148 hsa-miR-616
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    Additional cDNA sequence: 

    AK026212.1 AK057720.1 BC017400.2 

    9 DOTS entries:

    DT.120029  DT.109159  DT.97844036  DT.91761464  DT.100025308  DT.100779229  DT.121283684  DT.95164581 
    DT.95164583 

    24/124 AceView cDNA sequences (see all 124):

    AI332546 BQ001796 BQ012922 CA842906 BM916320 AI288528 BM968640 CR600104 
    CR609551 AI078563 W73832 BM454693 AA295283 BF969177 CR607240 AA505561 
    CR617185 CA311279 BM675406 AI371170 BI819194 BU683198 BX952701 BG330913 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for OBFC1    About this scheme

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


    ECgene alternative splicing isoforms for OBFC1

    (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

    OBFC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTTCTGCTG

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

    About this image
    See OBFC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OBFC1

    SOURCE GeneReport for Unigene cluster: Hs.62314
        SABiosciences Expression via Pathway-Focused PCR Array including OBFC1: 
              Telomeres & Telomerase in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OBFC1

    (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 chordates.

    Orthologs for OBFC1 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Obfc11 , 5 oligonucleotide/oligosaccharide-binding fold containing 1 less1, 5 77.72(n)1
    70.92(a)1
      19 (39.64 cM)5
    1086891  NM_175360.21  NP_780569.11 
     475010485 
    chicken
    (Gallus gallus)
    Aves OBFC11 oligonucleotide/oligosaccharide-binding fold containing 1 less 62.22(n)
    58.61(a)
      423877  XM_421742.3  XP_421742.2 
    lizard
    (Anolis carolinensis)
    Reptilia OBFC16
    --
    49(a)
    1 ↔ 1
    3(41310977-41338591)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480200632   -- 68.78(n)    48020063 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc641742 hypothetical protein MGC64174 76.59(n)   393360  BC053298.1 


    ENSEMBL Gene Tree for OBFC1 (if available)
    TreeFam Gene Tree for OBFC1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for OBFC1 gene

    OBFC1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for OBFC1
    PGOHUM00000238836 PGOHUM00000235818


    (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

    10/822 NCBI SNPs in OBFC1 are shown (see all 822    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1404552261,2
    --105636857(+) GAACAG/TTTGCT 1 -- ds50010--------
    rs1908298311,2
    --105636900(+) TCTTGC/TGTTGA 1 -- ds50010--------
    rs29026381,2
    C,F,O,H,--105636989(+) TCTTAT/CTAAAG 1 -- ds500123Minor allele frequency- C:0.16NS EA NA CSA WA 2488
    rs345470361,2
    C,F,--105637026(+) TCCTTC/TGTGGT 1 -- ds50017Minor allele frequency- T:0.11NA WA 428
    rs171160911,2
    C,F,--105637027(+) CCTTCG/ATGGTA 1 -- ds50013Minor allele frequency- A:0.01NA 140
    rs1443261371,2
    --105637183(+) CAGGGC/TTATGC 1 -- ds50010--------
    rs1853461721,2
    --105637362(+) AATACA/GGTAGA 1 -- ut310--------
    rs1477880461,2
    --105637387(+) AGTGCA/GAGTTC 1 -- ut310--------
    rs10485851,2
    --105637589(-) GGCTCA/G/TCCAGA 2 -- ut313MN NA 188
    rs1406655671,2
    --105637641(+) TGTAG-/TTAAAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for OBFC1 (105637316 - 105678045 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for OBFC1: --

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for OBFC1

    (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

    OBFC1 for disorders           About GeneDecksing

    OMIM gene information: 613128    OMIM disorders: --

    4 diseases for OBFC1:    About MalaCards
    dyskeratosis congenita    uterine fibroid    dyskeratosis    alzheimer's disease

    Human Genome Epidemiology (HuGE) Navigator: OBFC1 (3 documents)

    Export disorders for OBFC1 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)
    About This Section

    PubMed articles for OBFC1 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with OBFC1)
        Utopia: connect your pdf to the dynamic
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    1. OB fold-containing protein 1 (OBFC1), a human homolog of yeast Stn1, associates with TPP1 and is implicated in telomere length regulation. (PubMed id 19648609)1, 2, 9 Wan M.... Liu D. (2009)
    2. RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to si ngle-stranded DNA and protects telomeres independently of the Pot1 pathway. (PubMed id 19854130)1, 2 Miyake Y....Ishikawa F. (2009)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    7. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    8. The human CST complex is a terminator of telomerase ac tivity. (PubMed id 22763445)1 Chen L.Y....Lingner J. (2012)
    9. Human CST promotes telomere duplex replication and gen eral replication restart after fork stalling. (PubMed id 22863775)1 Stewart J.A....Price C.M. (2012)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79991 HGNC: 26200 AceView: OBFC1 Ensembl:ENSG00000107960 euGenes: HUgn79991
    ECgene: OBFC1 H-InvDB: OBFC1

    (According to HUGE)
    About This Section
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    (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 OBFC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for OBFC1 gene:
    Search GeneIP for patents involving OBFC1

    GeneCards and IP:
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