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BBIP1 Gene

protein-coding   GIFtS: 35
GCID: GC10M112658

BBSome Interacting Protein 1

(Previous name: non-protein coding RNA 81)
(Previous symbol: NCRNA00081)
  See BBIP1-related disease
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
BBSome Interacting Protein 11 2     BBS182
NCRNA000811 2 3 5     bA348N5.32
BBIP102 3 5     BBSome-Interacting Protein 12
BBSome-Interacting Protein Of 10 KDa2 3     UPF0604 Protein2
Non-Protein Coding RNA 811     

External Ids:    HGNC: 280931   Entrez Gene: 924822   Ensembl: ENSG000002144137   OMIM: 6136055   UniProtKB: A8MTZ03   

Export aliases for BBIP1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BBIP1 Gene:
BBIP10 functions in ciliogenesis and stabilization of cytoplasmic microtubules (Loktev et al., 2008 (PubMed
19081074)).(supplied by OMIM, Nov 2010)

GeneCards Summary for BBIP1 Gene:
BBIP1 (BBSome interacting protein 1) is a protein-coding gene. Diseases associated with BBIP1 include bardet-biedl syndrome, modifier of.

UniProtKB/Swiss-Prot: BBIP1_HUMAN, A8MTZ0
Function: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane
proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar
satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which
localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension
of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the
guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and
fusion of carrier vesicles to the base of the ciliary membrane. Required for primary cilia assembly and BBSome
stability. Regulates cytoplasmic microtubule stability and acetylation




(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 at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   Search for regulatory transcription factor binding sites for BBIP1
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BBIP1


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

Entrez Gene cytogenetic band: 10q25.2   Ensembl cytogenetic band:  10q25.2   HGNC cytogenetic band: 10q25.3

BBIP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BBIP1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M112658:  view genomic region     (about GC identifiers)

Start:
112,658,488 bp from pter      End:
112,679,124 bp from pter
Size:
20,637 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BBIP1_HUMAN, A8MTZ0 (See protein sequence)
Recommended Name: BBSome-interacting protein 1  
Size: 92 amino acids; 10506 Da
Subunit: Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. Interacts with
HDAC6
Caution: Was previously thought to be non-coding and described as "non-protein coding RNA 81", abbreviated
NCRNA00081
Secondary accessions: E9PIY9 E9PM41 E9PRI7
Alternative splicing: 4 isoforms:  A8MTZ0-1   A8MTZ0-2   A8MTZ0-3   A8MTZ0-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BBIP1: NX_A8MTZ0

Explore proteomics data for BBIP1 at MOPED


See BBIP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (5 alternative transcripts): 
NP_001182233.1  NP_001182234.1  NP_001182235.1  NP_001182236.1  NP_001230712.1  

ENSEMBL proteins: 
 ENSP00000436622   ENSP00000432849   ENSP00000433157   ENSP00000432274   ENSP00000474675  
 ENSP00000431936   ENSP00000435795  

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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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1 InterPro protein domain:
 IPR028233 BBIP10

Graphical View of Domain Structure for InterPro Entry A8MTZ0

ProtoNet protein and cluster: A8MTZ0

UniProtKB/Swiss-Prot: BBIP1_HUMAN, A8MTZ0
Similarity: Belongs to the BBIP10 family


Find genes that share domains with BBIP1           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: BBIP1_HUMAN, A8MTZ0
Function: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane
proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar
satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which
localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension
of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the
guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and
fusion of carrier vesicles to the base of the ciliary membrane. Required for primary cilia assembly and BBSome
stability. Regulates cytoplasmic microtubule stability and acetylation

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding IPI19081074
     
Find genes that share ontologies with BBIP1           About GenesLikeMe


Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for BBIP1

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(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 UniProtKB/Swiss-Prot
BBIP1_HUMAN, A8MTZ0: Cell projection, cilium. Cytoplasm. Note=Localizes inside the primary cilium but not at
centriolar satellites

Gene Ontology (GO): 3 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IDA19081074
GO:0005929cilium IEA--
GO:0034464BBSome IDA19081074

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(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 BBIP1
Interactions:

    Search GeneGlobe Interaction Network for BBIP1

2 Interacting proteins for BBIP1 (A8MTZ01, 3) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
ARL6Q9H0F73I2D: score=1 
BBS4Q96RK41EBI-2892417,EBI-1805814
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Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0015031protein transport IEA--
GO:0042384cilium assembly IMP19081074

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(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
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Browse Tocris compounds for BBIP1



(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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for BBIP1 gene (5 alternative transcripts): 
NM_001195304.1  NM_001195305.1  NM_001195306.1  NM_001195307.1  NM_001243783.1  

Unigene Clusters for BBIP1:

BBSome interacting protein 1
Hs.232543  [show with all ESTs], Hs.651480  [show with all ESTs]
Unigene Representative Sequences: AK125829, AK021501
10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000448814(uc009xxw.2 uc001kzi.3 uc001kzj.3 uc001kzk.3 uc010qrf.1)
ENST00000447005 ENST00000454061 ENST00000423273 ENST00000605742 ENST00000436562
ENST00000605265 ENST00000398289 ENST00000422050 ENST00000431847
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hsa-miR-377 hsa-miR-186
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Primer
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Additional mRNA sequence: AK021501.1 

20 DOTS entries:

DT.92448947  DT.99974205  DT.100692869  DT.308451  DT.95276701  DT.100879336  DT.91716474  DT.121276702 
DT.434736  DT.100879329  DT.436364  DT.91716476  DT.425966  DT.91720047  DT.95337939  DT.101985240 
DT.95261666  DT.95276703  DT.40268444  DT.97805409 

Selected AceView cDNA sequences (see all 205):

AI373250 BU685009 AI692638 AI968238 AI697885 AA150073 BU786346 AI709169 
BF195918 AI611111 BF222970 AI217659 AI589906 AI654169 AW968916 CF994690 
BF197374 BU784616 AI741073 AA628292 AW611833 BC015550 W23895 AI650297 

GeneLoc Exon Structure


(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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BBIP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TATATACGTG
BBIP1 Expression
About this image

BBIP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

BBIP1 Protein Expression

SOURCE GeneReport for Unigene clusters: Hs.232543 Hs.651480
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In Situ
Assay Products:
 

 
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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)
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This gene was present in the common ancestor of chordates.

Orthologs for BBIP1 gene from Selected species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Bbip11 , 5 BBSome interacting protein 11, 5 88.89(n)1
88.89(a)1
  19 (48.80 cM)5
1005035721  NM_001195338.11  NP_001182267.11 
 539296775 
tropical clawed frog
(Xenopus tropicalis)
Amphibia bbip11 BBSome interacting protein 1 71.28(n)
75.38(a)
  100495772  XM_004915725.1  XP_004915782.1 
zebrafish
(Danio rerio)
Actinopterygii bbip11 BBSome interacting protein 1 70.77(n)
76.92(a)
  795943  NM_001166123.1  NP_001159595.1 


ENSEMBL Gene Tree for BBIP1 (if available)
TreeFam Gene Tree for BBIP1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for BBIP1 gene

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1 Pseudogenes.org Pseudogene for BBIP1
PGOHUM00000258147


(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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Selected SNPs for BBIP1 (see all 320)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 10 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs792245021,2
C,F--112660410(+) CTAAAT/CTGAGT 5 -- int11Minor allele frequency- C:0.12WA 118
rs1844100281,2
--112660439(+) AGATCA/TTTGTC 5 -- int10--------
rs1176928161,2
C,F--112660456(+) TAAGCG/ACATTT 5 -- int11Minor allele frequency- A:0.04EA 120
rs1877575261,2
--112660516(+) AAGAAC/TCTATG 5 -- int10--------
rs1424604361,2
--112660548(+) TGTGTC/GAGAAG 5 -- int10--------
rs1922250591,2
--112660549(+) GTGTCA/GGAAGT 5 -- int10--------
rs1465918091,2
--112660594(+) ATACAC/TAGTGC 5 -- int10--------
rs1858116791,2
--112660979(+) GCTGCA/GGTGAG 5 -- int10--------
rs1482895791,2
--112660994(+) GGTTGC/TGCCAG 5 -- int10--------
rs1414173751,2
--112661005(+) CTGTAC/TCCAAG 5 -- int10--------

HapMap Linkage Disequilibrium report for BBIP1 (112658488 - 112679124 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for BBIP1:    About this table    
Variant IDTypeSubtypePubMed ID
nsv7548CNV Insertion18451855
nsv825565CNV Loss20364138
nsv831985CNV Gain+Loss17160897
nsv7211OTHER Inversion18451855

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(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.)
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OMIM gene information: 613605    OMIM disorders: --

1 disease for BBIP1:    
About MalaCards
bardet-biedl syndrome, modifier of


Find genes that share disorders with BBIP1           About GenesLikeMe


Export disorders for BBIP1 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 BBIP1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with BBIP1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A BBSome subunit links ciliogenesis, microtubule stability and acetylation. (PubMed id 19081074)1, 3 Loktev A.V.... Nachury M.V. (Dev. Cell 2008)
  2. 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)
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  4. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
  5. The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. (PubMed id 20603001)1 Jin H.... Nachury M.V. (Cell 2010)
  6. The BBSome. (PubMed id 19549489)1 Jin H. and Nachury M.V. (Curr. Biol. 2009)
  7. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  8. Bardet-Biedl Syndrome (PubMed id 20301537)1 Pagon R.A....Stephens K. (1993)

(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: 92482 HGNC: 28093 AceView: LOC92482 Ensembl:ENSG00000214413 euGenes: HUgn92482
ECgene: BBIP1 H-InvDB: BBIP1

(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 BBIP1 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 BBIP1 gene:
Search GeneIP for patents involving BBIP1

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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 genOway)
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 antibodies-online proteins for BBIP1 (2 products)
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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