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

UHRF1BP1L Gene

protein-coding   GIFtS: 45
GCID: GC12M100430

UHRF1 Binding Protein 1-Like

  Search for UHRF1BP1L
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
UHRF1 Binding Protein 1-Like1 2
SHIP1642
Syntaxin 6Habc-Interacting Protein Of 164 KDa2
UHRF1 (ICBP90) Binding Protein 1-Like2
UHRF1-Binding Protein 1-Like2
KIAA07013

External Ids:    HGNC: 291021   Entrez Gene: 230742   Ensembl: ENSG000001116477   UniProtKB: A0JNW53   

Export aliases for UHRF1BP1L gene to outside databases

Previous GC identifers: GC12M098954 GC12M097492


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

GeneCards Summary for UHRF1BP1L Gene: 
UHRF1BP1L (UHRF1 binding protein 1-like) is a protein-coding gene. An important paralog of this gene is UHRF1BP1.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UHRF1BP1L gene promoter:
         AML1a   Evi-1   PPAR-gamma1   CP2   POU2F1   POU2F1a   PPAR-gamma2   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUHRF1BP1L promoter sequence
   Search SABiosciences Chromatin IP Primers for UHRF1BP1L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UHRF1BP1L


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

Entrez Gene cytogenetic band: 12q23.1   Ensembl cytogenetic band:  12q23.1   HGNC cytogenetic band: 12q23.1

UHRF1BP1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UHRF1BP1L gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M100430:  view genomic region     (about GC identifiers)

Start:
100,422,233 bp from pter      End:
100,536,642 bp from pter
Size:
114,410 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UH1BL_HUMAN, A0JNW5 (See protein sequence)
Recommended Name: UHRF1-binding protein 1-like  
Size: 1464 amino acids; 164199 Da
Sequence caution: Sequence=AAI27018.1; Type=Frameshift; Positions=1004; Sequence=CAB66755.1; Type=Erroneous
initiation;
Secondary accessions: A0PJE5 O75183 Q8NDL1 Q96C30 Q9BTS5 Q9H0F1
Alternative splicing: 2 isoforms:  A0JNW5-1   A0JNW5-2   

Explore the universe of human proteins at neXtProt for UHRF1BP1L: NX_A0JNW5

Explore proteomics data for UHRF1BP1L at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A0JNW5

  • UHRF1BP1L Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UHRF1BP1L Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001006948.1  NP_055869.1  

    ENSEMBL proteins: 
     ENSP00000447809   ENSP00000279907   ENSP00000444824   ENSP00000349285   ENSP00000449112  
     ENSP00000448226   ENSP00000447043   ENSP00000449189   ENSP00000448420  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR026728 UHRF1BP1_like
     IPR026854 VPS13A_N

    Graphical View of Domain Structure for InterPro Entry A0JNW5

    ProtoNet protein and cluster: A0JNW5


    UHRF1BP1L for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         2 GenomeRNAi human phenotypes for UHRF1BP1L:
     Decreased homologous recombina  Increased HPV18 LCR reporter a 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for UHRF1BP1L 
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UHRF1BP1L

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 UHRF1BP1L (UH1BL)

    Search CenterWatch for drugs/clinical trials and news about UHRF1BP1L / UH1BL

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for UHRF1BP1L gene (2 alternative transcripts): 
    NM_001006947.1  NM_015054.1  

    Unigene Cluster for UHRF1BP1L:

    UHRF1 binding protein 1-like
    Hs.620701  [show with all ESTs]
    Unigene Representative Sequence: NM_015054
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000548712 ENST00000279907(uc001tgp.3 uc001tgq.3) ENST00000545232
    ENST00000547504 ENST00000356828(uc001tgr.3) ENST00000548045 ENST00000551973
    ENST00000550544 ENST00000551980 ENST00000547428
    miRNA
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    hsa-miR-7-1* hsa-miR-7-2* hsa-miR-617 hsa-miR-590-3p
    SwitchGear 3'UTR luciferase reporter plasmidUHRF1BP1L 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UHRF1BP1L

    Additional mRNA sequence: 

    AB014601.2 AK026472.1 AK125813.1 AL136821.1 AL833850.1 BC003391.1 BC014891.1 BC026286.1 
    BC127017.1 BX647380.1 

    12 DOTS entries:

    DT.100755451  DT.441492  DT.92021395  DT.91743242  DT.99937085  DT.100681866  DT.121148066  DT.121148189 
    DT.121148200  DT.75166276  DT.100675664  DT.97789405 

    24/103 AceView cDNA sequences (see all 103):

    AI341296 BC003391 AA810003 BU627565 AI350647 AW594466 AI611055 BE897334 
    AI138440 AA614151 BQ002093 AL705560 BX647380 R26206 AL833850 AI671529 
    BG164179 AI499509 AI499488 AI082064 AA468522 CD557303 AI802947 CA427487 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for UHRF1BP1L    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23
    SP1:                                                                                      -                                                         
    SP2:              -                                                                       -                                                         
    SP3:              -                                                                                                                                 
    SP4:                                                                                                                                                


    ECgene alternative splicing isoforms for UHRF1BP1L

    (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

    UHRF1BP1L expression in normal human tissues (normalized intensities)      UHRF1BP1L embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTAATGAAA
    UHRF1BP1L Expression
    About this image


    UHRF1BP1L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             bone marrow cd34+   
     
     Umbilical Cord (Extraembryonic Tissues)
             stem cells (umbilical cord cd34+)   
     
     Bone (Muscoskeletal System)
             Mandibular Condyle
     
     Cartilage (Muscoskeletal System)
             fetal cartilage   

    See UHRF1BP1L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UHRF1BP1L

    SOURCE GeneReport for Unigene cluster: Hs.620701
        SABiosciences Custom PCR Arrays for UHRF1BP1L
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    In Situ
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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 animals.

    Orthologs for UHRF1BP1L gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Uhrf1bp1l1 , 5 UHRF1 (ICBP90) binding protein 1-like1, 5 84.03(n)1
    85.84(a)1
      10 (45.22 cM)5
    750891  NM_029166.21  NP_083442.21 
     897449915 
    chicken
    (Gallus gallus)
    Aves UHRF1BP1L1 UHRF1 binding protein 1-like 72(n)
    71.9(a)
      417929  XM_416170.3  XP_416170.1 
    lizard
    (Anolis carolinensis)
    Reptilia UHRF1BP1L6
    UHRF1 binding protein 1-like
    64(a)
    1 ↔ 1
    5(28749012-28798412)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.50172 Xenopus laevis transcribed sequence with weak similarity more 77.57(n)    BU916423.1 
    zebrafish
    (Danio rerio)
    Actinopterygii uhrf1bp1l1 UHRF1 (ICBP90) binding protein 1-like 56.46(n)
    54.55(a)
      562208  NM_001100005.1  NP_001093475.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG341261 CG34126 42.98(n)
    34.12(a)
      318872  NM_001042870.3  NP_001036335.3 
    worm
    (Caenorhabditis elegans)
    Secernentea C44H4.46
    Protein C44H4.4
    22(a)
    1 → many
    X(14568857-14589087)


    ENSEMBL Gene Tree for UHRF1BP1L (if available)
    TreeFam Gene Tree for UHRF1BP1L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UHRF1BP1L gene
    UHRF1BP12  
    2 SIMAP similar genes for UHRF1BP1L using alignment to 7 protein entries:     UH1BL_HUMAN (see all proteins):
    DKFZp686A1736    UHRF1BP1

    UHRF1BP1L for paralogs           About GeneDecksing



    (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) 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

    10/2363 SNPs in UHRF1BP1L are shown (see all 2363)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs731594491,2
    --100430495(+) TCTTAC/TGTGCA 1 -- ds50010--------
    rs1881075241,2
    --100430538(+) CTTAAA/GGAGAA 1 -- ds50010--------
    rs73160001,2
    H--100430632(+) TTACTC/TTTTTG 1 -- ds50014Minor allele frequency- T:0.00NS EA 418
    rs73163401,2
    C,F,H--100430710(+) CTTTTG/TTATAG 1 -- ds50015Minor allele frequency- T:0.05NS EA WA 524
    rs1914692761,2
    --100430737(+) TTACAC/TTTGTA 1 -- ds50010--------
    rs1839448311,2
    --100430745(+) GTACCA/GTCTTT 1 -- ds50010--------
    rs1148192411,2
    C,F--100430790(+) ACCCAT/CTATTT 1 -- ds50011Minor allele frequency- C:0.03WA 118
    rs116085361,2
    C,H--100430899(+) TTTTTA/CCaata 1 -- ut315Minor allele frequency- C:0.00NS EA NA 420
    rs1895604731,2
    --100431104(+) ATGAGA/CTATCA 1 -- ut310--------
    rs1815229061,2
    --100431242(+) ATGCCC/TGTACT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for UHRF1BP1L (100422233 - 100536642 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for UHRF1BP1L:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv3021CNV Deletion18987735
    esv2664572CNV Deletion23128226
    esv2746274CNV Deletion23290073
    nsv899466CNV Loss21882294
    nsv899467CNV Loss21882294
    nsv523049CNV Loss19592680
    nsv518866CNV Loss19592680

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

    (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 UHRF1BP1L gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with UHRF1BP1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2 Ishikawa K.... Ohara O. (1998)
    2. Development and application of a DNA microarray-based yeast two-hybrid system. (PubMed id 23275563)1 Suter B....Wanker E.E. (2013)
    3. Association mapping of the high-grade myopia MYP3 locu s reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2. (PubMed id 23422819)1 Hawthorne F....Young T.L. (2013)
    4. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    5. A novel syntaxin 6-interacting protein, SHIP164, regu lates syntaxin 6-dependent sorting from early endosomes. (PubMed id 20163565)1 Otto G.P....Tooze S.A. (2010)
    6. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    7. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (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: 23074 HGNC: 29102 AceView: KIAA0701 Ensembl:ENSG00000111647 euGenes: HUgn23074
    ECgene: UHRF1BP1L H-InvDB: UHRF1BP1L

    (According to HUGE)
    About This Section
    HUGE: KIAA0701

    (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 UHRF1BP1L 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 UHRF1BP1L gene:
    Search GeneIP for patents involving UHRF1BP1L

    GeneCards and IP:
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