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B9D1 Gene

protein-coding   GIFtS: 43

GC17M019188
B9 protein domain 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
B9 1, 2
EPPB9 1, 2
Descriptions
B9 protein 2
B9 protein domain 1 2
endothelial precursor protein B9 2
External Ids
HGNC: 241231
Entrez Gene: 270772
UniProtKB: Q9UPM93
Ensembl: ENSG000001086417
Search outside databases for aliases for B9D1 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for B9D1:
The B9 protein function is not known. Identification of a conserved mouse homolog and
representation in the EST database indicates that this transcript does represent a gene. This gene
is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq]

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

B9D1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M019188:     (about GC identifiers)

Start:
19,187,076 bp from pter
End:
19,206,639 bp from pter
Size:
19,564 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000017.9  NT_010718.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: B9D1_HUMAN, Q9UPM9 (See protein sequence)
Recommended Name: B9 domain-containing protein 1  
Size: 204 amino acids; 22775 Da
Secondary accessions: Q9BU22
Alternative splicing: 2 isoforms:  Q9UPM9-1   Q9UPM9-2   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_056496.1  

    ENSEMBL proteins: 
    ENSP00000268841 ENSP00000378977 ENSP00000378978 ENSP00000261499 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse Abcam for Recombinant Proteins
    Human Recombinant Proteins from Abnova (EPPB9)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 


    Antibodies for B9D1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for B9D1
    Browse R&D Systems for Antibodies
    Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
    Monoclonal and Polyclonal Antibodies from Abnova (EPPB9)
    Novus Biologicals Antibody for B9D1

    Assays for B9D1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    1 InterPro domain/family:
     IPR010796 B9


       GeneDecks  B9D1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q9UPM9

    ProtoNet protein and cluster: Q9UPM9

    UniProtKB/Swiss-Prot: B9D1_HUMAN, Q9UPM9
    Similarity: Belongs to the B9D family
    Similarity: Contains 1 B9 domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (B9D1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_015681

                  Applied Biosystems Silencer® siRNAs for B9D1

                  Sigma-Aldrich siRNA for B9D1  
                         Sigma-Aldrich shRNA for B9D1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for B9D1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_015681
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_015681
                                     untagged cDNA clones in CMV expression vector (see all 2): BC002944 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_015681

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IPI15231747
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section



    1 Interacting protein for B9D1 (Q9UPM91) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOSC10Q017801EBI-372535, EBI-358236
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for B9D1

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (B9D1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_015681

                  Sigma-Aldrich siRNA for B9D1  
                         Sigma-Aldrich shRNA for B9D1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_015681  

    REFSEQ mRNAs for B9D1 gene: 

    NM_015681.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_015681  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_015681
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_015681
                                     untagged cDNA clones in CMV expression vector (see all 2): BC002944 

    Additional cDNA sequence: 

    AB030506.1 AK293815.1 AK297782.1 AK309320.1 BC002944.2 CR606056.1 

    10 DOTS entries:

    DT.440966  DT.100752236  DT.86842265  DT.95266441  DT.92420107  DT.91967891  DT.97801922  DT.92010038 
    DT.95266450  DT.95266451 

    24/84 AceView cDNA sequences (see all 84 ):

    CN479141 BM129815 BC002944 AA243643 BQ422055 AA256668 BM976857 CA776227 
    BU684397 BQ012937 CR606056 BE745789 CD676260 AW292166 CK819721 BM726709 
    BI825552 AI936091 NM_015681 BF025740 BX389591 BX389589 BX507706 AA431779 

    Unigene Cluster for B9D1:

    B9 protein domain 1
    Hs.462445  [show with all ESTs]
    Unigene Representative Sequence: AK293815


    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for B9D1 (see all 6 )

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

    About this scheme

    ECgene alternative splicing isoforms for B9D1

    4 Ensembl transcripts including schematic representations:
    ENST00000268841  ENST00000395615  ENST00000395616  ENST00000261499  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    B9D1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for B9D1

    1 / 2

    7 probe-sets matching B9D1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    37511_at2 U95-A 1 1.00 1.00 1.00 1.00 -- -- -- -- --

    210534_s_at2 U133-A 1 1.00 1.00 -- -- -- -- -- -- --

    205662_at2 U133-A 1 1.00 1.00 -- -- -- -- -- -- --

    210535_at2 U133-A 1 1.00 1.00 -- -- -- -- -- -- --

    210534_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    205662_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    210535_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  B9D1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: AGGAAACTGG

    SOURCE GeneReport for Unigene cluster: Hs.462445
    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for B9D1 gene from 5/12 species (see all 12 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    B9D11   -- B9 protein domain 1 91.5(n)
    95.1(a)
    479519  XM_536657.2  XP_536657.2 
    chimpanzee
    (Pan troglodytes)
    B9D11   -- B9 protein domain 1 99.84(n)
    100(a)
    742196  XM_001153772.1  XP_001153772.1 
    cow
    (Bos taurus)
    B9D11   -- B9 protein domain 1 89.54(n)
    94.61(a)
    505335  XM_581610.3  XP_581610.2 
    rat
    (Rattus norvegicus)
    B9d11   -- B9 protein domain 1 87.58(n)
    95.59(a)
    287383  XM_213314.4  XP_213314.3 
    mouse
    (Mus musculus)
    B9d11, 5 115
    B9 protein domain 11, 5 87.91(n)1
    94.61(a)1
    270781  NM_013717.21  NP_038745.11 
     AB0304835  AK0030385  (see all 10)
    About this table        Species with no ortholog for B9D1

    ENSEMBL Gene Tree for B9D1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for B9D1 gene
    B9D22  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/83 NCBI SNPs in B9D1 are shown (see all 83 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 53)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 17 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs112043061,2
    A,C,F,H19207964(+) ATTCTA/GTCAGT 1 -- ng314Minor allele frequency- G:0.42EU EA WA 412
    rs80652631,2
    C,F,H19186745(+) GTTCTC/GTCCTT 1 -- ng514Minor allele frequency- G:0.08EU EA WA 420
    rs22969781,2
    C,F,H19206545(-) TTCTAG/AGGCAA 1 -- ut51 ese38Minor allele frequency- A:0.06EA NA EU WA 1804
    rs80724401,2
    A,C,F,H19199994(+) TCCAAG/AGAGtt 1 -- int17Minor allele frequency- A:0.09EU EA WA NA 562
    rs37857731,2
    A,C,F,H19188772(-) CTCTGG/CCTCCC 1 -- int14Minor allele frequency- C:0.06EU EA WA 418
    rs65870671,2
    A,C,F,H19198932(+) ctctcT/Cccctc 1 -- int1 trp37Minor allele frequency- C:0.08EU EA WA NA 546
    rs49249871,2
    A,C,F,H19187668(+) GGGATG/AGGGGT 1 -- int14Minor allele frequency- A:0.24EU EA WA 416
    --
    rs65870711,2
    A,C,F,H19205104(+) attctC/Acatta 1 -- int14Minor allele frequency- A:0.08EU EA WA 418
    rs49247821,2
    A,C,F,H19190253(+) GCATTA/CTCGGC 1 -- int14Minor allele frequency- C:0.09EU EA WA 412
    --
    rs80666401,2
    A,C,F,H19196061(+) tgttgA/Ggatta 1 -- int14Minor allele frequency- G:0.08EU EA WA 418
    About this table

    HapMap Linkage Disequilibrium images for B9D1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

      --

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    4 PubMed articles for B9D1 gene:
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     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, and/or H-InvDB)
    About This Section

    Entrez Gene: 27077 HGNC: 24123 AceView: EPPB9 Ensembl:ENSG00000108641 euGenes: HUgn27077
    ECgene: B9D1 H-InvDB: B9D1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for B9D1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for B9D1 Antibodies for B9D1
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