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HBS1L Gene

protein-coding   GIFtS: 60

GC06M135323
HBS1-like (S. cerevisiae)
(Previous name: HBS1 (S. cerevisiae)-like )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

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
External Ids
HGNC: 48341
Entrez Gene: 107672
UniProtKB: Q9Y4503
Ensembl: ENSG000001123397
Search outside databases for aliases for HBS1L gene

Previous GC identifers: GC06M134904 GC06M135128 GC06M135216 GC06M135262

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene 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]

(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

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  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, 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 Q9UPW3
Alternative splicing: 3 isoforms:  Q9Y450-1   Q9Y450-2   Q9Y450-3   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • 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 
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    Browse R&D Systems for human recombinant proteins
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    Recombinant Proteins from Abcam (HBS1L)
    Human Recombinant Proteins from Abnova (HBS1L)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 


    Antibodies for HBS1L: 
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    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for HBS1L
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    Antibodies from Abcam (HBS1L), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (HBS1L)
    Novus Biologicals Antibodies for HBS1L

    Assays for HBS1L: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    4 InterPro domains/families:
     IPR015033 DUF1916
     IPR000795 ProtSyn_GTP_bd
     IPR004160 Transl_elong_EFTu/EF1A_C
     IPR004161 Transl_elong_EFTu/EF1A_2


       GeneDecks  HBS1L for the domains selected above  
    About GeneDecksing

    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

    (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.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (HBS1L)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   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  

    Clones:Invitrogen Clones for HBS1L
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   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):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0003746 translation elongation factor activity IEA--
    GO:0003924 GTPase activity IEA--
    GO:0005525 GTP binding TAS9872408
    About this table

    (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 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section



    4 Interacting proteins for HBS1L (ENSP000003568113) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UPF1ENSP000002628033STRING (score=.913)
    UBCENSP000003448183STRING (score=.89)
    ETF1ENSP000003537413STRING (score=.752)
    MYBENSP000003399923STRING (score=.716)
    About this table

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006412 translation TAS9872408
    GO:0007165 signal transduction TAS9872408
    About this table
    (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)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds 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 Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (HBS1L)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   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:                                      -     -     -     -                                                                                                   

    ExUns: 20
    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  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , 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 )
    About This Section

    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


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    34237_at2, 3 U95-A 1 1.00 1.00 0.11 0.49 AB028961 0.80 0.88 0.84 1

    66044_at2, 3 U95-C 1 1.00 1.00 1.00 1.00 AI620565 0.60 0.83 0.73 1

    83612_at2, 3 U95-E 1 1.00 1.00 -0.20 0.68 AI801875 0.80 0.88 0.84 1

    240602_at2, 3 U133-B 1 1.00 1.00 -- -- AI801875 0.80 0.88 0.84 1

    209315_at2, 3 U133-A 1 1.00 1.00 -- -- AW297143 0.60 0.83 0.73 1

    209314_s_at2, 3 U133-A 1 1.00 1.00 -- -- AK024258 0.80 0.88 0.84 1

    209316_s_at2, 3 U133-A 1 1.00 1.00 -- -- BC001465 0.80 0.88 0.84 1

    240602_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    209315_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    209314_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    209316_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TTTTAAGGAA

    SOURCE 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 according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for HBS1L gene from 5/21 species (see all 21 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    HBS1L1   -- HBS1-like (S. cerevisiae) 91.37(n)
    92.06(a)
    476211  XM_855076.1  XP_860169.1 
    chimpanzee
    (Pan troglodytes)
    HBS1L1   -- HBS1-like (S. cerevisiae) 99.66(n)
    99.71(a)
    463015  XM_001170393.1  XP_001170393.1 
    cow
    (Bos taurus)
    HBS1L1   -- HBS1-like (S. cerevisiae) 92.64(n)
    92.84(a)
    541083  NM_001046498.1  NP_001039963.1 
    rat
    (Rattus norvegicus)
    Hbs1l1   -- Hbs1-like (S. cerevisiae) 85.43(n)
    89.66(a)
    293408  NM_001011934.1  NP_001011934.1 
    mouse
    (Mus musculus)
    Hbs1l1, 5 105
    Hbs1-like (S. cerevisiae)1, 5 85.87(n)1
    89.51(a)1
    564221  NM_001042593.11  NP_001036058.11 
     AA4328025  AF0876725  (see all 26)
    About this table        Species with no ortholog for HBS1L

    ENSEMBL Gene Tree for HBS1L
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for HBS1L gene
    GSPT22  GSPT12  TUFM2  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/536 NCBI SNPs in HBS1L are shown (see all 536 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 212)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 6 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    --
    rs11352051,2
    A,C,F,H,O135323488(-) GTTCAA/GAGACA 1 -- ut31 ese38Minor allele frequency- G:0.46MN NA EU EA WA 742
    rs93991291,2
    A,C,F,H135326841(+) TAAAGC/AAATAT 1 -- ut318Minor allele frequency- A:0.50EU EA WA NA 774
    rs77397221,2
    A,C,F,H135323918(+) TTTCTT/CTGCTT 1 -- ut317Minor allele frequency- C:0.33NA EU EA WA 546
    rs21837091,2
    A,C,F,H135418784(+) TTTAGC/TTTGTG 1 -- ng317Minor allele frequency- T:0.44EU EA WA NA 558
    rs41422991,2
    A,C,F,H135418879(+) CAATAG/TAAAGA 1 -- ng314Minor allele frequency- T:0.45EU EA WA 416
    rs44753421,2
    A,C,F,H135325041(+) CTATAC/TATCAG 1 -- ut31 ese37Minor allele frequency- T:0.44NA EU EA WA 548
    rs45949691,2
    C,F,H135327279(+) GGGAAA/TAGCAA 1 -- ut316Minor allele frequency- T:0.31EU EA WA NA 600
    rs93892481,2
    A,F,H135324349(+) ACAGAT/CAAAAA 1 -- ut314Minor allele frequency- C:0.47EU EA WA 418
    rs9975241,2
    C,F,H135418738(-) TTATAT/CAGCAT 1 -- ng31 tfbs310Minor allele frequency- C:0.01NA EA EU WA 812
    rs22973401,2
    A,C,F135417751(+) TGCTGC/TGCATG 1 -- ng312Minor allele frequency- T:0.45MN EA 1252
    About this table

    HapMap Linkage Disequilibrium images for HBS1L (up to first 250kb)

    (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.)
    About This Section

    OMIM: 612450

    Human Genome Epidemiology Navigator: HBS1L (3 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/14 PubMed articles for HBS1L gene (see all 14 ):
    (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)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 10767 HGNC: 4834 AceView: HBS1LandALDH8A1 Ensembl:ENSG00000112339 euGenes: HUgn10767
    ECgene: HBS1L H-InvDB: HBS1L
    (According to HUGE)
    About This Section

    HUGE: KIAA1038
    (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

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (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



    Products for HBS1L:
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     TaqMan ® Genotyping Assays
      Free SNP selection tool



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