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

UHRF1BP1 Gene

protein-coding   GIFtS: 45
GCID: GC06P035772

UHRF1 binding protein 1

(Previous name: chromosome 6 open reading frame 107 )
(Previous symbol: C6orf107)
 Explore 4 diseases affiliated with
UHRF1BP1 via our new
 Human Malady Compendium 
Biological research products
for UHRF1BP1
    

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

Aliases
UHRF1 Binding Protein 11 2     FLJ203021
C6orf1071 2 3     Chromosome 6 Open Reading Frame 1071
ICBP901 2     ICBP90 Binding Protein 12
DJ349A12.11     UHRF1 (ICBP90) Binding Protein 12
Ubiquitin-Like Containing PHD And RING Finger Domains 1-Binding Protein 12 3     UHRF1-Binding Protein 12
ICBP90-Binding Protein 12 3     

External Ids:    HGNC: 212161   Entrez Gene: 548872   Ensembl: ENSG000000650607   UniProtKB: Q6BDS23   

Export aliases for UHRF1BP1 gene to outside databases

Previous GC identifers: GC06P034869 GC06P034763 GC06P034482 GC06P034866


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

UniProtKB/Swiss-Prot: URFB1_HUMAN, Q6BDS2
Function: May act as a negative regulator of cell growth




(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_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UHRF1BP1 gene promoter:
         YY1   RORalpha1   IRF-2   PPAR-gamma1   GATA-6   E2F-1   E2F   ZID   PPAR-gamma2   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUHRF1BP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for UHRF1BP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UHRF1BP1


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

Entrez Gene cytogenetic band: 6p21   Ensembl cytogenetic band:  6p21.31   HGNC cytogenetic band: 6p21.31

UHRF1BP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UHRF1BP1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P035772:  view genomic region     (about GC identifiers)

Start:
34,759,794 bp from pter      End:
34,850,915 bp from pter
Size:
91,122 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: URFB1_HUMAN, Q6BDS2 (See protein sequence)
Recommended Name: UHRF1-binding protein 1  
Size: 1440 amino acids; 159485 Da
Subunit: Homodimer (Potential). Interacts with UHRF1
Sequence caution: Sequence=BAA91074.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA;
Secondary accessions: Q9NXE0

Explore the universe of human proteins at neXtProt for UHRF1BP1: NX_Q6BDS2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6BDS2

  • UHRF1BP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060224.3  
    ENSEMBL proteins: 
     ENSP00000192788   ENSP00000400628  

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    Uscn Proteins for UHRF1BP1


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

    UHRF1BP1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR026728 UHRF1BP1_like
     IPR026854 VPS13A_N

    Graphical View of Domain Structure for InterPro Entry Q6BDS2

    ProtoNet protein and cluster: Q6BDS2


    (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: URFB1_HUMAN, Q6BDS2
    Function: May act as a negative regulator of cell growth

    miRNA
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    hsa-miR-194* hsa-miR-520e hsa-miR-520f hsa-miR-30d hsa-miR-578 hsa-miR-138-2* hsa-miR-30a hsa-miR-4274
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    OriGene shRNA RFP: UHRF1BP1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UHRF1BP1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15361834
    GO:0042802identical protein binding IPI15361834
    GO:0042826histone deacetylase binding IPI15361834


    UHRF1BP1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for UHRF1BP1:
     Increased gamma-H2AX phosphory 


    (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 UHRF1BP1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for UHRF1BP1 (Q6BDS23 ENSP000001927884) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UHRF1Q96T883I2D: score=1 
    --ENSP000003812954STRING: ENSP00000381295
    About this table

    (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 UHRF1BP1
    Search CenterWatch for drugs/clinical trials and news about UHRF1BP1 / URFB1 

    (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 UHRF1BP1 gene: 
    NM_017754.3  

    Unigene Cluster for UHRF1BP1:

    UHRF1 binding protein 1
    Hs.700656  [show with all ESTs]
    Unigene Representative Sequence: NM_017754
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000192788(uc003oju.4 uc010jvn.3 uc010jvo.3) ENST00000452449(uc010jvm.2)


    miRNA
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    8/94 QIAGEN miScript miRNA Assays for microRNAs that regulate UHRF1BP1 (see all 94):
    hsa-miR-194* hsa-miR-520e hsa-miR-520f hsa-miR-30d hsa-miR-578 hsa-miR-138-2* hsa-miR-30a hsa-miR-4274
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UHRF1BP1 (see all 4)
    OriGene shRNA RFP: UHRF1BP1
    OriGene siRNA: UHRF1BP1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UHRF1BP1
    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UHRF1BP1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UHRF1BP1

    Additional cDNA sequence: 

    AB126777.1 AK001228.1 AK122918.1 AK127691.1 BC108710.1 BC137120.1 BC137127.1 

    5 DOTS entries:

    DT.40292765  DT.40216595  DT.424976  DT.101984426  DT.91692238 

    24/160 AceView cDNA sequences (see all 160):

    AK096675 BM542802 BM971375 BM984283 NM_017754 BM128309 H96332 BM128474 
    BM128515 AA399609 AI220005 AA288009 AA081395 BM793489 AA528180 AI201389 
    BU740368 AI417200 AK122918 BM128721 AA731013 AK127691 CA312836 CB159954 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for UHRF1BP1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
    SP1:                                                                                                                                                      
    SP2:                                                                                                                                                      
    SP3:                                                                                                                                                      
    SP4:                                                                                                                                                      
    SP5:                                                                                                                                                      


    ECgene alternative splicing isoforms for UHRF1BP1

    (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

    UHRF1BP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTCAGGAAAG

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

    About this image
    See UHRF1BP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UHRF1BP1

    SOURCE GeneReport for Unigene cluster: Hs.700656
        SABiosciences Custom PCR Arrays for UHRF1BP1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UHRF1BP1

    (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 animals.

    Orthologs for UHRF1BP1 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves UHRF1BP11 UHRF1 binding protein 1 68.1(n)
    65.23(a)
      419900  XM_418025.3  XP_418025.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    92(a)
    59(a)
    1 ↔ many
    1 ↔ many
    4(121115545-121121830)
    4(121068515-121114565)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.44212 Transcribed sequence with weak similarity to protein more 75.59(n)    AL850876.2 
    zebrafish
    (Danio rerio)
    Actinopterygii uhrf1bp11 UHRF1 binding protein 1 57.12(n)
    51.81(a)
      567346  XM_001921432.3  XP_001921467.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG341266
    --
    23(a)
    1 → many
    2L(4981614-4992702)
    worm
    (Caenorhabditis elegans)
    Secernentea C44H4.41 Protein C44H4.4 43.22(n)
    34.47(a)
      181552  NM_078026.3  NP_510427.1 


    ENSEMBL Gene Tree for UHRF1BP1 (if available)
    TreeFam Gene Tree for UHRF1BP1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UHRF1BP1 gene
    UHRF1BP1L2  
    3 SIMAP similar genes for UHRF1BP1 using alignment to 3 protein entries:     URFB1_HUMAN (see all proteins):
    DKFZp686F10110    UHRF1BP1L    DKFZp686A1736

    UHRF1BP1 for paralogs           About GeneDecksing



    (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

    10/1478 NCBI SNPs in UHRF1BP1 are shown (see all 1478    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs94698821,2
    C,F,A,H,--34757810(+) CCACCA/GCACCT 1 -- us2k14Minor allele frequency- G:0.43NA CSA 7
    rs119679121,2
    C,F,A,H,--34757853(+) TTAGAA/CTTACA 1 -- us2k16Minor allele frequency- C:0.18NA WA EA 364
    rs1479071091,2
    --34757947(+) GGAACC/GAATTT 1 -- us2k10--------
    rs1900836051,2
    --34757993(+) GATGAA/CGCATT 1 -- us2k10--------
    rs1416173531,2
    --34758008(+) GAGGAC/TGCTGA 1 -- us2k10--------
    rs773085161,2
    F,--34758020(+) TCTCTG/CAGCAT 1 -- us2k11Minor allele frequency- C:0.04EA 120
    rs15557731,2
    C,F,A,H,--34758133(-) CCTCAG/CCCACA 1 -- us2k111Minor allele frequency- C:0.17MN NS EA WA NA CSA 847
    rs1161398241,2
    --34758166(+) ATAGCC/TGATAA 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs774928091,2
    F,--34758205(+) GCCCTA/GTTGGT 1 -- us2k11Minor allele frequency- G:0.04EA 120
    rs1436573551,2
    --34758207(+) CCTATC/TGGTCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for UHRF1BP1 (34759794 - 34850915 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for UHRF1BP1: --
    Human Gene Mutation Database (HGMD): UHRF1BP1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing UHRF1BP1
    DNA2.0 Custom Variant and Variant Library Synthesis for UHRF1BP1

    (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

    UHRF1BP1 for disorders           About GeneDecksing

    4 diseases for UHRF1BP1:    About MalaCards
    systemic lupus erythematosus    lupus erythematosus    rheumatoid arthritis    arthritis

    Human Genome Epidemiology (HuGE) Navigator: UHRF1BP1 (4 documents)

    Export disorders for UHRF1BP1 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 UHRF1BP1 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with UHRF1BP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ICBP90, an E2F-1 target, recruits HDAC1 and binds to methyl-CpG through its SRA domain. (PubMed id 15361834)1, 2 Unoki M.... Nakamura Y. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    4. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resi stance. (PubMed id 22581228)1 Manning A.K....Langenberg C. (2012)
    5. Two missense variants in UHRF1BP1 are independently a ssociated with systemic lupus erythematosus in Hong Kong Chinese. (PubMed id 21326321)1 Zhang Y....Lau Y.L. (2011)
    6. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    7. Study of the common genetic background for rheumatoid arthritis and systemic lupus erythematosus. (PubMed id 21068098)1 Orozco G....Barton A. (2010)
    8. A large-scale replication study identifies TNIP1, PRD M1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. (PubMed id 19838195)1 Gateva V....Graham R.R. (2009)
    9. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    10. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)

    (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)
    About This Section
    Entrez Gene: 54887 HGNC: 21216 AceView: C6orf107 Ensembl:ENSG00000065060 euGenes: HUgn54887
    ECgene: UHRF1BP1 H-InvDB: UHRF1BP1

    (According to HUGE)
    About This Section
      --

    (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 UHRF1BP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UHRF1BP1 gene:
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