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Aliases & Descriptions for HBS1L
(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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Aliases DKFZp434g247 1 DKFZp686L13262 2 EF-1a 1 , 2 ERFS 1 , 2 , 3 , 5 HBS1 1 , 2 , 3 HSPC276 1 , 2 KIAA1038 1 , 3 , 5 OTTHUMP00000017252 2
Descriptions ERF3-similar protein 2 HBS1 (S. cerevisiae)-like 1 HBS1-like (S. cerevisiae) 2 Hsp70 subfamily B suppressor 1-like protein 2
Search outside databases for aliases for HBS1L genePrevious GC identifers: GC06M134904 GC06M135128 GC06M135216 GC06M135262
Summaries for HBS1L (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for HBS1L : This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multipletissues with the highest expression in heart and skeletal muscle. The intergenic region of thisgene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetalhemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well aserythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetalhemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E.Multiple alternatively spliced transcript variants encoding different protein isoforms have beenfound for this gene. [provided by RefSeq]
Genomic Location for HBS1L
(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 HBS1L gene Entrez Gene cytogenetic band: 6q23-q24 Ensembl cytogenetic band: 6q23.3 HGNC cytogenetic band: 6q23.3 HBS1L 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 6 GeneLoc Exon Structure
GeneLoc location for GC06M135323:
(about GC identifiers )
Start:
135,323,209 bp from pter
End:
135,417,715 bp from pter
Size:
94,507 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000006.10 NT_025741.14 Proteins for HBS1L
(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: HBS1L_HUMAN, Q9Y450 (See
protein sequence )Recommended Name: HBS1-like protein Size : 684 amino acids; 75473 Da
Secondary accessions : Q4VX89 Q5T7G3 Q8NDW9 Q9UPW3Alternative splicing : 3 isoforms : Q9Y450-1 Q9Y450-2 Q9Y450-3
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (3 alternative transcripts):
NP_001138630.1 NP_001138679.1 NP_006611.1 ENSEMBL proteins: ENSP00000356811 ENSP00000356800 ENSP00000356798 ENSP00000356796 ENSP00000323566 ENSP00000356794 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells Antibodies for HBS1L: Assays for HBS1L:
Protein
Domains/ Families for HBS1L(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 Q9Y450 ProtoNet protein and cluster: Q9Y450
1 Blocks protein family : IPB004160 Elongation factor Tu UniProtKB/Swiss-Prot: HBS1L_HUMAN, Q9Y450 Similarity : Belongs to the GTP-binding elongation factor family
Gene Function for HBS1L
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
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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 3 ): NM_006620 Applied Biosystems Silencer ® siRNAs for HBS1L Sigma-Aldrich siRNA for HBS1L Sigma-Aldrich shRNA for HBS1L Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001145158                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001145158                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_001145158  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_006620 4 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for HBS1L
(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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4 Interacting proteins for HBS1L (ENSP00000356811 3 ) via UniProtKB, MINT, and/or STRING About this table 2 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for HBS1L (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 HBS1L
Transcripts for HBS1L(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
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siRNAs from Applied Biosystems ,
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shRNA from
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_006620 Sigma-Aldrich siRNA for HBS1L Sigma-Aldrich shRNA for HBS1L Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_006620
REFSEQ mRNAs for HBS1L gene (3 alternative transcripts): NM_001145158.1 NM_001145207.1 NM_006620.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_006620
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001145158                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001145158                                  untagged cDNA clones in CMV expression vector (see all 4 ): NM_001145158  
Additional cDNA sequence: AB028961.1 AF161394.1 AJ420551.1 AJ459826.1 AJ459827.1 AK024258.1 AK292656.1 AK293573.1 AK295545.1 AK298336.1 AL137664.1 BC001465.2 BC040849.1 BX648033.1 CR607684.1 U87791.1
17 DOTS entries : DT.92437006 DT.92389718 DT.412828 DT.92437002 DT.100775955 DT.95279745 DT.121321431 DT.86846711 DT.121321443 DT.121321481 DT.92060412 DT.100738071 DT.121321446 DT.412829 DT.95247979 DT.121321419 DT.121321482
24/251 AceView cDNA sequences (see all 251
):BI862042 AU125696 AI754529 BG505464 CA418991 AW339594 BU507737 AI274512 AW299988 NM_006620 NM_170771 BM698318 AI192720 CA312514 AW270941 BF590919 BC001465 AL519043 CB162038 AJ459826 AI467869 AW117894 BG284613 Z41800
highest scoring ESTs for HBS1L :AA249384 AB028961 AI204998 AI801875 AJ459826 AK024258 AU131302 AV650912 AV734368 BC001465
Unigene Cluster for HBS1L: HBS1-like (S. cerevisiae) Hs.378532 [show with all ESTs ] Unigene Representative Sequence: NM_006620 GeneLoc Exon Structure 5/7 Alternative Splicing Database (ASD) splice patterns (SP) for HBS1L (see all 7
) ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ SP1 :             -   -   -                         -             SP2 :                                         -             SP3 :                                                     SP4 :                                                     SP5 :             -   -   -   -                                  
About this scheme ECgene alternative splicing isoforms for HBS1L 6 Ensembl transcripts including schematic representations : ENST00000367837
ENST00000367826
ENST00000367824
ENST00000367822
ENST00000314674
ENST00000367820
Expression for HBS1L
(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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HBS1L expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for HBS1L 1 / 2 / 3
11 probe-sets matching HBS1L gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TTTTAAGGAASOURCE GeneReport for Unigene cluster: Hs.378532 Expression variation in blood from EXPOLDB for HBS1L
UniProtKB/Swiss-Prot: HBS1L_HUMAN, Q9Y450 Tissue specificity : Detected in heart, brain, placenta, liver, muscle, kidney and pancreas
Orthologs for HBS1L
(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 HBS1L gene from 5/21 species (see all 21
)
About this table Species with no ortholog for HBS1L ENSEMBL Gene Tree for HBS1L Paralogs for HBS1L (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for HBS1L gene GSPT2 2 GSPT1 2 TUFM 2
SNPs/Variants for HBS1L (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 HBS1L (up to first 250kb)
Disorders & Mutations for HBS1L
(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 .)
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OMIM: 612450 Human Genome Epidemiology Navigator: HBS1L (3 documents)
Medical News for HBS1L (Possibly Related Articles in
Doctor's Guide )
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--
Publications for HBS1L (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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10/14 PubMed articles for HBS1L gene (see all 14
): The product of the mammalian orthologue of the Saccharomyces cerevisiae HBS1 gene is phylogenetically related to eukaryotic release factor 3 (eRF3) but does not carry eRF3-like activity. (PubMed id 9872408) 1, 2, 3, 4 Wallrapp C.... Jean-Jean O. (1998) 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) The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404) 3, 4 Mungall A.J.... Beck S. (2003) Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851) 3, 4 Kikuno R....Ohara O. (1999) Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients. (PubMed id 19148297) 3 Creary L.E....Thein S.L. (2009) DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. (PubMed id 18667698) 3 Lettre G....Orkin S.H. (2008) Association of SNP in exon 1 of HBS1L with hemoglobin F level in beta(0)-thalassemia/hemoglobin E. (PubMed id 18839276) 3 Pandit R.A....Peerapittayamongkol C. (2008) The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans. (PubMed id 17712044) 3 Menzel S....Thein S.L. (2007) Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults. (PubMed id 17592125) 3 Thein S.L....Lathrop M. (2007) Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560) 3 Kimura K.... Sugano S. (2006)
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Genome Databases showing HBS1L
(According to
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AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing HBS1L
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Specialized Databases showing HBS1L (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 HBS1L (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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