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HBS1L Gene

protein-coding   GIFtS: 65
GCID: GC06M135281

HBS1-Like (S. Cerevisiae)

(Previous name: HBS1 (S. cerevisiae)-like)
  See HBS1L-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
HBS1-Like (S. Cerevisiae)1 2     EF-1a2
ERFS2 3 5     HSPC2762
HBS12 3     ERF3-Similar Protein2
KIAA10383 5     HBS1-Like Protein2
HBS1 (S. Cerevisiae)-Like1     Hsp70 Subfamily B Suppressor 1-Like Protein2

External Ids:    HGNC: 48341   Entrez Gene: 107672   Ensembl: ENSG000001123397   OMIM: 6124505   UniProtKB: Q9Y4503   

Export aliases for HBS1L gene to outside databases

Previous GC identifers: GC06M134904 GC06M135128 GC06M135216 GC06M135262 GC06M135323 GC06M132845


(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 HBS1L Gene:
This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with
the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been
identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces
erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA
polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A
single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in
beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein
isoforms have been found for this gene. (provided by RefSeq, May 2009)

GeneCards Summary for HBS1L Gene:
HBS1L (HBS1-like (S. cerevisiae)) is a protein-coding gene. Diseases associated with HBS1L include sickle cell disease, and thalassemia. GO annotations related to this gene include GTP binding and translation elongation factor activity. An important paralog of this gene is GSPT2.




(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_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HBS1L gene promoter:
         LHX3b/Lhx3b   GATA-3   POU3F1   Lmo2   Nkx2-5   CUTL1   E4BP4   GATA-1   LHX3a/Lhx3a   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHBS1L promoter sequence
   Search Chromatin IP Primers for HBS1L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HBS1L


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

Entrez Gene cytogenetic band: 6q23.3   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)
HBS1L gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M135281:  view genomic region     (about GC identifiers)

Start:
135,281,516 bp from pter      End:
135,424,194 bp from pter
Size:
142,679 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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: B7Z365 Q4VX89 Q4VX90 Q5T7G3 Q8NDW9 Q9UPW3
Alternative splicing: 3 isoforms:  Q9Y450-1   Q9Y450-2   Q9Y450-4   (Contains a phosphoserine at position 246)

Explore the universe of human proteins at neXtProt for HBS1L: NX_Q9Y450

Explore proteomics data for HBS1L at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys47, Lys62, Lys114, Lys622, Lys657
  • Modification sites at PhosphoSitePlus

  • See HBS1L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001138630.1  NP_001138679.1  NP_006611.1  

    ENSEMBL proteins: 
     ENSP00000356811   ENSP00000436256   ENSP00000389826   ENSP00000356800   ENSP00000434533  
     ENSP00000433161   ENSP00000436472   ENSP00000436620   ENSP00000432092   ENSP00000323566  
     ENSP00000434855   ENSP00000433030   ENSP00000356796   ENSP00000356794   ENSP00000435608  
     ENSP00000356798   ENSP00000415305  

    HBS1L Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for HBS1L

     
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    Search eBioscience for ELISAs for HBS1L 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR015033 HBS1-like_N
     IPR000795 EF_GTP-bd_dom
     IPR004160 Transl_elong_EFTu/EF1A_C
     IPR004161 Transl_elong_EFTu/EF1A_2
     IPR009000 Transl_B-barrel

    Graphical View of Domain Structure for InterPro Entry Q9Y450

    ProtoNet protein and cluster: Q9Y450

    1 Blocks protein domain: IPB004160 Elongation factor Tu

    UniProtKB/Swiss-Prot: HBS1L_HUMAN, Q9Y450
    Similarity: Belongs to the GTP-binding elongation factor family


    Find genes that share domains with HBS1L           About GenesLikeMe


    (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, 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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         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003746translation elongation factor activity IEA--
    GO:0003924GTPase activity IEA--
    GO:0005525GTP binding IEA--
         
    Find genes that share ontologies with HBS1L           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for HBS1L:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HBS1L
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HBS1L
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HBS1L

    miRNA
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    miRTarBase miRNAs that target HBS1L:
    hsa-mir-218-5p (MIRT046986), hsa-mir-130b-5p (MIRT038298), hsa-mir-125b-5p (MIRT046078), hsa-mir-32-5p (MIRT028343)

    Block miRNA regulation of human, mouse, rat HBS1L using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HBS1L (see all 22):
    hsa-miR-124* hsa-miR-30c hsa-miR-148b hsa-miR-30d hsa-miR-301a hsa-miR-141* hsa-miR-30a hsa-miR-205*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Gene Editing
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    Sino Biological Human cDNA Clone for HBS1L
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HBS1L

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBS1L


    (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
    cytosol3
    nucleus2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with HBS1L           About GenesLikeMe


    (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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    SuperPaths for HBS1L About    
    See pathways by source

    SuperPathContained pathways About
    1mRNA surveillance pathway
    mRNA surveillance pathway
    2Legionellosis
    Legionellosis


    Find genes that share SuperPaths with HBS1L           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    2 Kegg Pathways  (Kegg details for HBS1L):
        mRNA surveillance pathway
    Legionellosis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HBS1L
    Interactions:

        Search GeneGlobe Interaction Network for HBS1L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HBS1L (Q9Y4502, 3 ENSP000003568114) via UniProtKB, MINT, STRING, and/or I2D (see all 891)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOSC10Q017802, ENSP000003661354MINT-7945693 MINT-7993837 MINT-7947479 STRING: ENSP00000366135
    CDC5LQ994592, ENSP000003605324MINT-7945693 MINT-7947479 STRING: ENSP00000360532
    UPF1Q929002, ENSP000002628034MINT-7945693 MINT-7947479 STRING: ENSP00000262803
    HIP1RO751462, ENSP000002530834MINT-7945693 MINT-7947479 STRING: ENSP00000253083
    EIF2S3P410912, ENSP000002530394MINT-7945693 MINT-7947479 STRING: ENSP00000253039
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006412translation TAS9872408
    GO:0007165signal transduction TAS9872408

    Find genes that share ontologies with HBS1L           About GenesLikeMe



    (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 HBS1L

    1 HMDB Compound for HBS1L    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (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 HBS1L gene (3 alternative transcripts): 
    NM_001145158.1  NM_001145207.1  NM_006620.3  

    Unigene Cluster for HBS1L:

    HBS1-like (S. cerevisiae)
    Hs.378532  [show with all ESTs]
    Unigene Representative Sequence: NM_006620
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367837(uc003qey.2 uc011ecy.1 uc011ecz.1 uc003qez.2 uc011eda.1)
    ENST00000527005 ENST00000527578 ENST00000415177 ENST00000367826 ENST00000533274
    ENST00000526100 ENST00000529169 ENST00000529641 ENST00000527507 ENST00000314674
    ENST00000524715 ENST00000529882 ENST00000367822(uc003qfa.2) ENST00000367820
    ENST00000525067 ENST00000367824 ENST00000445176
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HBS1L using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HBS1L (see all 22):
    hsa-miR-124* hsa-miR-30c hsa-miR-148b hsa-miR-30d hsa-miR-301a hsa-miR-141* hsa-miR-30a hsa-miR-205*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Predesigned siRNA for gene silencing in human, mouse, rat HBS1L
    Clone
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    OriGene clones in human, mouse for HBS1L (see all 20)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): HBS1L (NM_001145158)
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    Primer
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    OriGene qPCR primer pairs and template standards for HBS1L
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HBS1L
      QuantiTect SYBR Green Assays in human, mouse, rat HBS1L
      QuantiFast Probe-based Assays in human, mouse, rat HBS1L

    Additional mRNA sequence: 

    AB028961.1 AF161394.1 AJ420551.1 AJ459826.1 AJ459827.1 AK024258.1 AK293573.1 AK295545.1 
    AK298336.1 AL137664.1 BC001465.2 BC040849.1 BX648033.1 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 

    Selected AceView cDNA sequences (see all 251):

    NM_022568 AL137664 BX102493 AI333572 BG505464 AI051566 AJ459826 BU507737 
    AI274512 AB028961 CR607684 BE463937 BQ232346 AI984975 AI467869 Z41800 
    AW117894 AW339594 CB215036 AU125696 BP343119 BX335888 AI478463 BG284613 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HBS1L (see all 7)    About this scheme

    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:                                      -     -     -     -                                                                                                   

    ExUns: 20
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for HBS1L

    (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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    HBS1L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTAAGGAA
    HBS1L Expression
    About this image

    HBS1L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HBS1L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.378532

    UniProtKB/Swiss-Prot: HBS1L_HUMAN, Q9Y450
    Tissue specificity: Detected in heart, brain, placenta, liver, muscle, kidney and pancreas

        Custom PCR Arrays for HBS1L
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    QuantiFast Probe-based Assays in human, mouse, rat HBS1L
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBS1L

    (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 animals and fungi.

    Orthologs for HBS1L gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hbs1l1 , 5 Hbs1-like (S. cerevisiae)1, 5 85.88(n)1
    89.41(a)1
      10 (9.75 cM)5
    564221  NM_019702.21  NP_062676.21 
     212959795 
    chicken
    (Gallus gallus)
    Aves HBS1L1 HBS1-like (S. cerevisiae) 78.9(n)
    82.23(a)
      421694  XM_004935730.1  XP_004935787.1 
    lizard
    (Anolis carolinensis)
    Reptilia HBS1L6
    HBS1-like (S. cerevisiae)
    80(a)
    1 ↔ 1
    GL343200.1(3191565-3238352)
    African clawed frog
    (Xenopus laevis)
    Amphibia BU899363.12   -- 77.42(n)    BU899363.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc23c072 wufc23c07 75.92(n)   324267  BC044162.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta HBS11 , 3 translational termination translation
    release more3
    HBS11
    52(a)3
    53.28(n)1
    52(a)1
      62B73
    1173651  NM_144472.41  NP_652729.21 
    worm
    (Caenorhabditis elegans)
    Secernentea K07A12.41 , 3 elongation factor 1-alpha3
    K07A12.41
    42(a)3
    53.42(n)1
    48.24(a)1
      I(8695865-8698989)3
    1726721  NM_001026385.41  NP_001021556.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HBS1(YKR084C)4
    HBS11
    GTPase with similarity to translation release factors; more4
    HBS11
    49.8(n)1
    40.9(a)1
      11(598890-597055)4
    8539591, 4  NP_013010.31  NP_013010.14 


    ENSEMBL Gene Tree for HBS1L (if available)
    TreeFam Gene Tree for HBS1L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HBS1L gene
    GSPT22  GSPT12  
    9 SIMAP similar genes for HBS1L using alignment to 15 protein entries:     HBS1L_HUMAN (see all proteins):
    DKFZp434G247    EEF1A1    EEF1A2    EEF1A1P5    GSPT2    GSPT1
    EEF1A1L14    PTI-1    EEF1A

    Find genes that share paralogs with HBS1L           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for HBS1L
    PGOHUM00000245428


    (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 HBS1L (see all 2048)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs132084641,2
    F,H--132856471(+) AAAAAA/GGGGCA 2 -- int1 trp34Minor allele frequency- G:0.01NS EA 420
    rs758837091,2
    C--132876434(+) ACACAC/TATATA 2 -- int10--------
    rs113398461,2
    C--132880451(+) CTCTA-/GGGACC 2 -- int10--------
    rs673197221,2
    C--132883779(+) ACTCT-/TGGAATA 2 -- int10--------
    rs2011066451,2
    --132884805(+) TCTTT-/CTTTTT 2 -- int10--------
    rs94941301,2
    C,F--132884806(+) tctttT/Cttttt 2 -- int1 trp31Minor allele frequency- C:0.10WA 118
    rs1997310391,2
    --132888283(+) TAGTA-/CTTTTA 2 -- int10--------
    rs455441351,2
    C--132888284(+) TAGTAC/TTTTAA 2 -- int11Minor allele frequency- T:0.00NA 2
    rs1404316901,2
    C--132888286(+) GTATT-/TTAAA 
            
    TTATA
    2 -- int10--------
    rs114333931,2
    C--132889889(+) AGCAGA/-AGGGG 2 -- int11Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for HBS1L (135281516 - 135424194 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for HBS1L:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672751CNV Deletion23128226
    esv2656813CNV Deletion23128226
    nsv886684CNV Loss21882294
    nsv464063CNV Gain19166990
    esv275200CNV Gain+Loss21479260

    Human Gene Mutation Database (HGMD): HBS1L
    Locus Specific Mutation Databases (LSDB): HBS1L

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HBS1L
    DNA2.0 Custom Variant and Variant Library Synthesis for HBS1L

    (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: 612450    OMIM disorders: --

    3 diseases for HBS1L:    
    About MalaCards
    sickle cell disease    thalassemia    hemoglobinopathy

    3 diseases from the University of Copenhagen DISEASES database for HBS1L:
    Thalassemia     Sickle cell anemia     Hemoglobinopathy

    Find genes that share disorders with HBS1L           About GenesLikeMe

    Genetic Association Database (GAD): HBS1L
    Human Genome Epidemiology (HuGE) Navigator: HBS1L (9 documents)

    Export disorders for HBS1L 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 HBS1L gene, integrated from 10 sources (see all 62):
    (articles sorted by number of sources associating them with HBS1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 9 Wallrapp C.... Jean-Jean O. (FEBS Lett. 1998)
    2. A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. (PubMed id 22423221)1, 4 Qayyum R....Reiner A.P. (PLoS Genet. 2012)
    3. Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. (PubMed id 21738478)1, 4 Okada Y....Kamatani N. (PLoS Genet. 2011)
    4. Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia. (PubMed id 21068433)1, 4 Makani J....Thein S.L. (Blood 2011)
    5. A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. (PubMed id 20183929)1, 4 Nuinoon M....Fucharoen S. (Hum. Genet. 2010)
    6. The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients. (PubMed id 20472475)1, 4 Nguyen T.K....Francina A. (amp 2010)
    7. Genome-wide association study of hematological and biochemical traits in a Japanese population. (PubMed id 20139978)1, 4 Kamatani Y....Kamatani N. (Nat. Genet. 2010)
    8. A genome-wide association study of red blood cell traits using the electronic medical record. (PubMed id 20927387)1, 4 Kullo I.J....Chute C.G. (PLoS ONE 2010)
    9. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. (PubMed id 19820697)1, 4 Soranzo N....Gieger C. (Nat. Genet. 2009)
    10. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. (PubMed id 19862010)1, 4 Ganesh S.K....Lin J.P. (Nat. Genet. 2009)

    (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: 10767 HGNC: 4834 AceView: HBS1LandALDH8A1 Ensembl:ENSG00000112339 euGenes: HUgn10767
    ECgene: HBS1L Kegg: 10767 H-InvDB: HBS1L

    (According to HUGE)
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    HUGE: KIAA1038

    (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 HBS1L 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 HBS1L gene:
    Search GeneIP for patents involving HBS1L

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



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