Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HBS1L Gene

protein-coding   GIFtS: 61
GCID: GC06M135281

HBS1-like (S. cerevisiae)

(Previous name: HBS1 (S. cerevisiae)-like )
 Explore 10 diseases affiliated with
HBS1L via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HBS1L    

Aliases
for HBS1L gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
HBS1-Like (S. Cerevisiae)1 2     DKFZp434g2471
ERFS1 2 3 5     HBS1 (S. Cerevisiae)-Like1
HBS11 2 3     ERF3-Similar Protein2
KIAA10381 3 5     HBS1-Like Protein2
EF-1a1 2     Hsp70 Subfamily B Suppressor 1-Like Protein2
HSPC2761 2     

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


Summaries
for HBS1L gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for HBS1L:
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)




Genomic Views
for HBS1L gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences 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 plasmid: HBS1L promoter sequence
   Search SABiosciences Chromatin IP Primers for HBS1L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for HBS1L gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y450

    • HBS1L Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: HBS1L
    OriGene Custom Protein Services for HBS1L 
    GenScript Custom Purified and Recombinant Proteins Services for HBS1L
    Novus Biologicals HBS1L Protein
    Novus Biologicals HBS1L Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for HBS1L


    HBS1L Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies (see all 9): HBS1L
    OriGene Custom Antibody Services for HBS1L 
    GenScript Custom Superior Antibodies Services for HBS1L
    Novus Biologicals HBS1L Antibodies
    Search for Antibodies for HBS1L at Abcam  
    Uscn Antibodies for HBS1L
    Search ThermoFisher Antibodies for HBS1L

    Assay Products for HBS1L: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HBS1L
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for HBS1L

    Protein Domains /
    Families
    for HBS1L gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HBS1L for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR015033 DUF1916
     IPR000795 EF_GTP-bd_dom
     IPR004160 Transl_elong_EFTu/EF1A_C
     IPR004161 Transl_elong_EFTu/EF1A_2
     IPR009000 Transl_elong_init/rib_B-barrel

    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


    Function
    for HBS1L gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 3): HBS1L
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HBS1L
    8/22 QIAGEN miScript miRNA 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
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HBS1L (see all 7)
    OriGene shRNA RFP: HBS1L
    OriGene siRNA: HBS1L
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HBS1L

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for HBS1L

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HBS1L (see all 7)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HBS1L (see all 4)
    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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HBS1L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HBS1L 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for HBS1L
    Search LifeMap BioReagents cell lines for HBS1L

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBS1L

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003746translation elongation factor activity IEA--
    GO:0003924GTPase activity IEA--
    GO:0005525GTP binding IEA--


    HBS1L for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for HBS1L:
     Synthetic lethal with Ras 


    Pathways & Interactions
    for HBS1L gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1mRNA surveillance pathway
    		mRNA surveillance pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for HBS1L):
        mRNA surveillance pathway


    HBS1L for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HBS1L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/758 Interacting proteins for HBS1L (Q9Y4502, 3 ENSP000003568114) via UniProtKB, MINT, STRING, and/or I2D (see all 758)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC5LQ994592, ENSP000003605324MINT-7945693 MINT-7947479 STRING: ENSP00000360532
    ETF1P624952, ENSP000003537414MINT-7945693 MINT-7947479 STRING: ENSP00000353741
    EXOSC10Q017802MINT-7945693 MINT-7993837 MINT-7947479
    SNW1Q135732, ENSP000002615314MINT-7945693 MINT-7947479 STRING: ENSP00000261531
    DIS3LQ8TF462, ENSP000003217114MINT-7993837 STRING: ENSP00000321711
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

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


    HBS1L for ontologies           About GeneDecksing



    Drugs & Compounds
    for HBS1L gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--
    Search CenterWatch for drugs/clinical trials and news about HBS1L 

    Transcripts
    for HBS1L gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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:             		 OriGene 3'-UTR Clone (see all 3): HBS1L
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HBS1L
    8/22 QIAGEN miScript miRNA 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
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HBS1L (see all 7)
    OriGene shRNA RFP: HBS1L
    OriGene siRNA: HBS1L
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HBS1L
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HBS1L (see all 7)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HBS1L (see all 4)
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HBS1L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HBS1L 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HBS1L
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HBS1L
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HBS1L
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HBS1L

    Additional cDNA 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 

    24/251 AceView cDNA sequences (see all 251):

    CB215036 AU125696 AI192720 BM667030 AJ459826 BX102493 AW117894 AI478463 
    AL137664 BX647324 BQ776213 AI348521 AI624626 AI284854 AL519043 AJ459827 
    BX335888 BG284613 CB163504 CA418991 Z41800 NM_022568 AW339594 BQ010218 

    GeneLoc Exon Structure

    5/7 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

    Expression
    for HBS1L gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HBS1L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTAAGGAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See HBS1L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HBS1L

    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

        SABiosciences Custom PCR Arrays for HBS1L
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HBS1L
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HBS1L
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HBS1L
    QIAGEN 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
    for HBS1L gene

    (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)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for HBS1L gene from 10/37 species (see all 37)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves HBS1L1 HBS1-like (S. cerevisiae) 78.97(n)
    82.43(a)    		   421694  XM_001234090.2  XP_001234091.2 
    lizard
    (Anolis carolinensis)    		 Reptilia HBS1L6
    		 --
    		 81(a)
    		 1 ↔ 1
    		 GL343200.1(3191565-3234079)
    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
    CG1898-PA1    		 52(a)3
    53.08(n)1
    51.54(a)1    		   62B73
    1173651  NM_144472.31  NP_652729.21 
    worm
    (Caenorhabditis elegans)    		 Secernentea K07A12.41 , 3 elongation factor 1-alpha3
    Protein K07A12.41    		 42(a)3
    52.55(n)1
    46.28(a)1    		   I(8695865-8698989)3
    1726721  NM_001026384.21  NP_001021555.21 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes HBS1(YKR084C)4
    HBS11    		 GTPase with similarity to translation release factors; more4
    Hbs1p1    		 49.8(n)1
    40.9(a)1    		   11(598890-597055)4
    8539591, 4  NP_013010.31  NP_013010.14 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT5G106301 putative translation elongation factor 2EF1A / eIF-2-gamma 49.96(n)
    39.96(a)    		   830928  NM_001203353.1  NP_001190282.1 
    rice
    (Oryza sativa)    		 Liliopsida Os01g01166001 hypothetical protein 53.44(n)
    47.51(a)    		   4326095  NM_001048380.1  NP_001041845.2 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria cysN6
    		 sulfate adenylyltransferase, subunit 1
    		 24(a)
    		 1 → many
    		 Chromosome(2872014-2873441)


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

    Paralogs
    for HBS1L gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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

    HBS1L for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for HBS1L
    PGOHUM00000245428


    Genomic Variants
    for HBS1L gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1723 NCBI SNPs in HBS1L are shown (see all 1723)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1132555301,2
    		C,F,--132845860(-) AATGCA/GTAATG 2 -- ut311Minor allele frequency- G:0.01NS 378
    rs1136666871,2
    		C,F,--132845925(-) AATTAA/GGAGAA 2 -- ut312Minor allele frequency- G:0.01NS WA 496
    rs1121506441,2
    		C,--132846205(-) TGATCC/TGTTGG 2 -- ut311Minor allele frequency- T:0.00NS 368
    rs737745241,2
    		C,--132846240(+) CTGTGC/ACCTTT 2 -- ut313Minor allele frequency- A:0.07WA NS 488
    rs412862361,2
    		C,F,--132846361(+) ATTTAC/TTGTAA 2 -- ut312Minor allele frequency- T:0.01NS NA 492
    rs770512101,2
    		C,--132846440(+) TCTTTG/TCTTTT 2 -- ut310--------
    rs77578111,2
    		C,F,A,--132846548(+) TAACAA/TAATAA 2 -- ut312Minor allele frequency- T:0.02NS WA 496
    rs778651451,2
    		C,F,--132846558(+) ATGTAG/CTCCCT 2 -- ut312Minor allele frequency- C:0.00NS WA 496
    rs751092391,2
    		C,F,--132846622(+) TTTGGT/CGCAAT 2 -- ut312Minor allele frequency- C:0.01NS WA 498
    rs746840021,2
    		C,F,--132846710(+) ATACTT/CAAATG 2 -- ut311Minor allele frequency- C:0.04EA 120

    HapMap Linkage Disequilibrium report for HBS1L (135281516 - 135424194 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HBS1L: --
    Human Gene Mutation Database (HGMD): HBS1L

    Locus Specific Mutation Databases (LSDB): HBS1L

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HBS1L
    DNA2.0 Custom Variant and Variant Library Synthesis for HBS1L

    Disorders / Diseases
    for HBS1L gene

    (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.)
    About This Section
    HBS1L for disorders           About GeneDecksing

    OMIM gene information: 612450    OMIM disorders: --

    10 diseases for HBS1L:    About MalaCards
    sickle cell disease    thalassemia    beta thalassemia    sickle cell anemia
    hemoglobinopathy    hepatitis b    anemia    hepatitis
    tuberculosis    mycobacterium tuberculosis

    3 diseases from the University of Copenhagen DISEASES database for HBS1L:
    Thalassemia     Sickle cell anemia     Hemoglobinopathy
    Human Genome Epidemiology (HuGE) Navigator: HBS1L (9 documents)

    Export disorders for HBS1L gene to outside databases

    Publications
    for HBS1L gene

    (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)
    About This Section

    PubMed articles for HBS1L gene, integrated from 9 sources (see all 46):
    (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. (1998)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. 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. (2004)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    5. 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)1, 2 Kikuno R....Ohara O. (1999)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    7. Meta-analysis of 2040 sickle cell anemia patients: BCL 11A and HBS1L-MYB are the major modifiers of HbF in African Americans. (PubMed id 22936743)1 Bae H.T....Steinberg M.H. (2012)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. A meta-analysis and genome-wide association study of p latelet count and mean platelet volume in african americans. (PubMed id 22423221)1 Qayyum R....Reiner A.P. (2012)
    10. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)

    External Searches for HBS1L 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)

    Genome Databases showing HBS1L gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10767 HGNC: 4834 AceView: HBS1LandALDH8A1 Ensembl:ENSG00000112339 euGenes: HUgn10767
    ECgene: HBS1L Kegg: 10767 H-InvDB: HBS1L

    Other Databases showing HBS1L gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1038

    Specialized Databases showing HBS1L gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HBS1L Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for HBS1L gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
    for HBS1L gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for HBS1L   OriGene shRNA RFP for HBS1L  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HBS1L   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HBS1L  
     OriGene Protein Over-expression Lysate for HBS1L   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for HBS1L   OriGene 3'-UTR Clone for HBS1L  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HBS1L   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HBS1L  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for HBS1L   OriGene Custom Protein Services for HBS1L  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HBS1L
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HBS1L
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HBS1L
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HBS1L
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HBS1L
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HBS1L
     GenScript Custom Purified and Recombinant Proteins Services for HBS1L GenScript cDNA clones with any tag delivered in your preferred vector for HBS1L
     GenScript Custom Assay Services for HBS1L GenScript Custom Superior Antibodies Services for HBS1L
     GenScript Custom overexpressing Cell Line Services for HBS1L CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in HBS1L promoter
     Search Chromatin IP Primers for HBS1L
     RT2 qPCR Primer Assay in human, mouse, rat HBS1L
     Search GNC Networks for HBS1L
     SABiosciences Custom PCR Arrays for HBS1L
     Search Tocris compounds for HBS1L
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     HBS1L antibodies
     HBS1L proteins
     HBS1L lysates
     Search for Antibodies for HBS1L at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for HBS1L
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     HBS1L Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for HBS1L
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBS1L
     Browse SwitchGear 3'UTR luciferase reporter plasmids for HBS1L
     SwitchGear Promoter luciferase reporter plasmids for HBS1L
     Search ThermoFisher Antibodies for HBS1L
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HBS1L
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      HBS1L gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4