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BEND5 Gene

protein-coding   GIFtS: 46
GCID: GC01M049193

BEN Domain Containing 5

(Previous name: chromosome 1 open reading frame 165)
(Previous symbol: C1orf165)
  See 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
BEN Domain Containing 51 2
C1orf1651 2 3
Chromosome 1 Open Reading Frame 1651
BEN Domain-Containing Protein 52

External Ids:    HGNC: 256681   Entrez Gene: 796562   Ensembl: ENSG000001623737   UniProtKB: Q7L4P63   

Export aliases for BEND5 gene to outside databases

Previous GC identifers: GC01M048966 GC01M047312


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for BEND5 Gene:
BEND5 (BEN domain containing 5) is a protein-coding gene. Diseases associated with BEND5 include ataxia, and cerebritis.


(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:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BEND5 gene promoter:
         C/EBPbeta   Brachyury   CUTL1   Nkx2-5   POU3F2   Max   Ik-2   POU2F1   POU2F1a   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for BEND5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BEND5


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

Entrez Gene cytogenetic band: 1p33   Ensembl cytogenetic band:  1p33   HGNC cytogenetic band: 1p33

BEND5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BEND5 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M049193:  view genomic region     (about GC identifiers)

Start:
49,193,195 bp from pter      End:
49,242,641 bp from pter
Size:
49,447 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: BEND5_HUMAN, Q7L4P6 (See protein sequence)
Recommended Name: BEN domain-containing protein 5  
Size: 421 amino acids; 48182 Da
Sequence caution: Sequence=AAH11804.1; Type=Erroneous initiation;
Secondary accessions: D3DQ27 Q96A62 Q9HAI3
Alternative splicing: 2 isoforms:  Q7L4P6-1   Q7L4P6-2   

Explore the universe of human proteins at neXtProt for BEND5: NX_Q7L4P6

Explore proteomics data for BEND5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BEND5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_078879.2  
    ENSEMBL proteins: 
     ENSP00000360899  

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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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    HGNC Gene Families:
    BEND: BEN domain containing

    1 InterPro protein domain:
     IPR018379 BEN_domain

    Graphical View of Domain Structure for InterPro Entry Q7L4P6

    ProtoNet protein and cluster: Q7L4P6

    UniProtKB/Swiss-Prot: BEND5_HUMAN, Q7L4P6
    Similarity: Contains 1 BEN domain


    BEND5 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Phenotypes:
         1 GenomeRNAi human phenotype for BEND5:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BEND5
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    hsa-mir-186-5p (MIRT045095)

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BEND5

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEND5


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    golgi apparatus2
    nucleus2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--

    BEND5 for ontologies           About GeneDecksing


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BEND5
    Interactions:

        Search GeneGlobe Interaction Network for BEND5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for BEND5 (Q7L4P62, 3 ENSP000003608994) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GFI1BQ5VTD92, 3, ENSP000003447824MINT-2876349 I2D: score=3 STRING: ENSP00000344782
    ENSG00000234078Q083453, ENSP000004013974I2D: score=3 STRING: ENSP00000401397
    DDR1Q083453I2D: score=3 
    ENSG00000137332Q083453I2D: score=3 
    ENSG00000215522Q083453I2D: score=3 
    About this table

    (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 BEND5



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BEND5 gene: 
    NM_024603.2  

    Unigene Cluster for BEND5:

    BEN domain containing 5
    Hs.475348  [show with all ESTs]
    Unigene Representative Sequence: AK096573
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371833(uc001crx.4) ENST00000476079 ENST00000463562(uc001crw.4)
    ENST00000476096 ENST00000480399 ENST00000489956
    miRNA
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BEND5
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BEND5
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat BEND5
      QuantiFast Probe-based Assays in human, mouse, rat BEND5

    Additional mRNA sequence: 

    AK021650.1 AK055449.1 AK096573.1 BC007932.2 BC011804.2 

    10 DOTS entries:

    DT.112826  DT.100775920  DT.440273  DT.91857441  DT.100704397  DT.100775919  DT.121443663  DT.121443686 
    DT.121443683  DT.121443702 

    Selected AceView cDNA sequences (see all 98):

    BQ006447 BQ352718 BC007932 AI378659 AI648368 AA828273 BE674366 AU118499 
    CK300320 BC011804 BM683273 BG217746 AI870010 BM930480 AW292205 AI690013 
    CD671200 BU743157 BX116910 BX096297 AK055449 BE719208 AK096573 AA805190 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for BEND5    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5
    SP1:              -                                 
    SP2:              -     -                           
    SP3:                                                
    SP4:        -     -                                 


    ECgene alternative splicing isoforms for BEND5

    (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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    BEND5 expression in normal human tissues (normalized intensities)      BEND5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATATCAATA
    BEND5 Expression
    About this image


    BEND5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Neural Crest (Gastrulation Derivatives)
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Larynx (Respiratory System)
    BEND5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BEND5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.475348
        Custom PCR Arrays for BEND5
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEND5

    (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 chordates.

    Orthologs for BEND5 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bend51 , 5 BEN domain containing 51, 5 94.46(n)1
    98.57(a)1
      4 (51.53 cM)5
    676211  NM_026279.31  NP_080555.11 
     1114150065 
    chicken
    (Gallus gallus)
    Aves BEND51 BEN domain containing 5 81.29(n)
    87.23(a)
      424628  XM_001234080.2  XP_001234081.1 
    lizard
    (Anolis carolinensis)
    Reptilia BEND56
    BEN domain containing 5
    81(a)
    1 ↔ 1
    GL343485.1(190181-443077)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia bend51 BEN domain containing 5 71.56(n)
    76.28(a)
      100495888  XM_002931416.2  XP_002931462.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bend51 BEN domain containing 5 64.52(n)
    66.07(a)
      566161  XM_005166919.1  XP_005166976.1 


    ENSEMBL Gene Tree for BEND5 (if available)
    TreeFam Gene Tree for BEND5 (if available)

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

    (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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    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for BEND5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv829771CNV Gain17160897
    nsv871053CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BEND5
    DNA2.0 Custom Variant and Variant Library Synthesis for BEND5

    (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.)
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    2 diseases for BEND5:    About MalaCards
    ataxia    cerebritis


    BEND5 for disorders           About GeneDecksing


    Export disorders for BEND5 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 BEND5 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with BEND5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    5. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (Science 2009)
    6. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    7. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (Cell 2006)
    8. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 2005)
    9. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
    10. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 79656 HGNC: 25668 AceView: FLJ11588 Ensembl:ENSG00000162373 euGenes: HUgn79656
    ECgene: BEND5 H-InvDB: BEND5

    (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 BEND5 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 BEND5 gene:
    Search GeneIP for patents involving BEND5

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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