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Aliases & Descriptions for BOLL
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Descriptions bol (Drosophila boule homolog)-like 1 bol, boule-like (Drosophila) 2
Search outside databases for aliases for BOLL genePrevious GC identifers: GC02M196791 GC02M197304 GC02M198555 GC02M198794 GC02M198417
Summaries for BOLL (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for BOLL : This gene belongs to the DAZ gene family required for germ cell development. It encodes anRNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded bygenes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this genefunction results in the absence of sperm in semen (azoospermia). Histological studies demonstratedthat the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcriptvariants encoding distinct isoforms have been found for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: BOLL_HUMAN, Q8N9W6 Function : Probable RNA-binding protein, which may be required during spermatogenesis. May act bybinding to the 3'-UTR of mRNAs and regulating their translation (By similarity)
Gene Wiki entry for BOLL
Genomic Location for BOLL
(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 )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the BOLL gene Entrez Gene cytogenetic band: 2q33 Ensembl cytogenetic band: 2q33.1 HGNC cytogenetic band: 2q33 BOLL 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 2 GeneLoc Exon Structure
GeneLoc location for GC02M198299:
(about GC identifiers )
Start:
198,299,856 bp from pter
End:
198,359,183 bp from pter
Size:
59,328 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000002.10 NT_005403.16 Proteins for BOLL
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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: BOLL_HUMAN, Q8N9W6 (See
protein sequence )Recommended Name: Protein boule-like Size : 283 amino acids; 31301 Da
Subunit : Interacts with DAZ1 and DAZL
Subcellular location : Cytoplasm
Secondary accessions : Q0JW32 Q53T62 Q969U3Alternative splicing : 4 isoforms : Q8N9W6-1 Q8N9W6-2 Q8N9W6-3 Q8N9W6-4
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_149019.1 NP_932074.1 ENSEMBL proteins: ENSP00000376117 ENSP00000314792 ENSP00000282278 ENSP00000376116 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: BOLL 1 Gene Ontology (GO) cellular component term (links to tree view) :
About this table Antibodies for BOLL: Assays for BOLL:
Protein
Domains/ Families for BOLL(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q8N9W6 ProtoNet protein and cluster: Q8N9W6
1 Blocks protein family : IPB000504 RNA-binding region RNP-1 (RNA recognition motif) UniProtKB/Swiss-Prot: BOLL_HUMAN, Q8N9W6 Similarity : Belongs to the RRM DAZ familySimilarity : Contains 1 DAZ-like domainSimilarity : Contains 1 RRM (RNA recognition motif) domain
Gene Function for BOLL
(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 .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_033030 Applied Biosystems Silencer ® siRNAs for BOLL Sigma-Aldrich siRNA and siRNA Panels for BOLL Sigma-Aldrich shRNA for BOLL Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_033030                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_033030                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_033030  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_197970 UniProtKB/Swiss-Prot: BOLL_HUMAN, Q8N9W6 Function : Probable RNA-binding protein, which may be required during spermatogenesis. May act bybinding to the 3'-UTR of mRNAs and regulating their translation (By similarity)
4 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for BOLL
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Interacting protein for BOLL (Q8N9W6 1 ) via UniProtKB, MINT, and/or STRING About this table 5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6
):
About this table
Drugs & Compounds for BOLL (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 )
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Browse Tocris compounds for BOLL
Transcripts for BOLL(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
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_033030 Sigma-Aldrich siRNA and siRNA Panels for BOLL Sigma-Aldrich shRNA for BOLL Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_033030 NM_197970
REFSEQ mRNAs for BOLL gene (2 alternative transcripts): NM_033030.5 NM_197970.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_033030 NM_197970
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_033030                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_033030                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_033030  
Additional cDNA sequence: AF272858.1 AK058099.1 AK093453.1 AK097795.1 AK098824.1 AK302817.1 AM295005.1 BC033674.1
3 DOTS entries : DT.92068142 DT.99930769 DT.99927331
24/49 AceView cDNA sequences (see all 49
):BP368992 BC033674 AK093453 AK097795 AK058099 BF059752 NM_033030 AX748137 NM_197970 AK098824 AA954512 BI460610 BG723959 BM563752 AI797395 AF272858 AI381516 AW182097 BG722029 BI561445 BG772456 AA983861 AI424966 BQ438372
highest scoring ESTs for BOLL :AI424966 AK097795 AA401472 AI190319 AI381516 AK058099 AK093453 AK098824 AW770088 BC033674
Unigene Cluster for BOLL: Bol, boule-like (Drosophila) Hs.169797 [show with all ESTs ] Unigene Representative Sequence: NM_033030 GeneLoc Exon Structure 3 Alternative Splicing Database (ASD) splice patterns (SP) for BOLL ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b SP1 :                               SP2 :   -   -               -             SP3 :     -               -            
About this scheme ECgene alternative splicing isoforms for BOLL 4 Ensembl transcripts including schematic representations : ENST00000392297
ENST00000321801
ENST00000282278
ENST00000392296
Expression for BOLL
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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BOLL expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for BOLL 1 / 2 / 3
5 probe-sets matching BOLL gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.169797 UniProtKB/Swiss-Prot: BOLL_HUMAN, Q8N9W6 Tissue specificity : Testis specific. Not expressed in early embryos, primoridal germ cells andspermatogonial cells. First expressed in the cytoplasm of spermatocytes and then persists throughmeiosis
Orthologs for BOLL
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for BOLL gene from 5/8 species (see all 8
)
About this table Species with no ortholog for BOLL ENSEMBL Gene Tree for BOLL Paralogs for BOLL (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for BOLL gene DAZL 2 DAZ1 2 DAZ3 2 DAZ4 2 DAZ2 2
SNPs/Variants for BOLL (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for BOLL (up to first 250kb)
Disorders & Mutations for BOLL
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 606165 4 Novoseek disease relationships for BOLL gene
About this table Genetic Association Database: BOLL Human Genome Epidemiology Navigator: BOLL (4 documents)
Medical News for BOLL (Possibly Related Articles in
Doctor's Guide )
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--
Publications for BOLL (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/32 PubMed articles for BOLL gene (see all 32
): A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans. (PubMed id 11390979) 2, 3, 4 Xu E.Y.... Reijo Pera R.A. (2001) Association of three isoforms of the meiotic BOULE gene with spermatogenic failure in infertile men. (PubMed id 17114206) 1, 3, 4 Kostova E....Gromoll J. (2007) Mutations in the human BOULE gene are not a major cause of impaired spermatogenesis. (PubMed id 15705409) 3, 6 Westerveld G.H....Lombardi M.P. (2005) The DAZL family proteins are PABP-binding proteins that regulate translation in germ cells. (PubMed id 16001084) 2, 3 Collier B....Gray N.K. (2005) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 3, 4 Ota T....Sugano S. (2004) Mutation analysis of the BOULE gene in men with non-obstructive azoospermia: identification of a novel polymorphic variant in the black population. (PubMed id 15379971) 3, 6 Lepretre A.C....Bienvenu T. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Association of meiotic arrest with lack of BOULE protein expression in infertile men. (PubMed id 15070965) 1, 3 Luetjens C.M....Gromoll J. (2004) Expression profiles of the DAZ gene family in human testis with and without spermatogenic failure. (PubMed id 15066460) 1, 3 Kuo P.L....Hsu C.C. (2004) Human BOULE gene rescues meiotic defects in infertile flies. (PubMed id 12499397) 1, 3 Xu E.Y....Reijo Pera R.A. (2003)
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Genome Databases showing BOLL
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing BOLL
(According to HUGE )
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--
Specialized Databases showing BOLL (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
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-- Services for BOLL (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
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Products for BOLL:
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