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OBSL1 Gene

protein-coding   GIFtS: 50

GC02M220124
obscurin-like 1
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)
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Aliases
KIAA0657 1, 2, 3, 5
MGC71026 2
Descriptions
obscurin-like 1 2
External Ids
HGNC: 290921
Entrez Gene: 233632
UniProtKB: O751473
Ensembl: ENSG000001240067
Search outside databases for aliases for OBSL1 gene

Previous GC identifer: GC02M220242

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Gene Wiki entry for OBSL1
(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)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the OBSL1 gene  

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q35

OBSL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M220124:     (about GC identifiers)

Start:
220,123,708 bp from pter
End:
220,144,430 bp from pter
Size:
20,723 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000002.10  NT_005403.16  
(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: OBSL1_HUMAN, O75147 (See protein sequence)
Recommended Name: Obscurin-like protein 1 precursor  
Size: 1401 amino acids; 152883 Da
PDB structures from and Proteopedia :
2CPC (3D)    2E6P (3D)    2E6Q (3D)    
Secondary accessions: Q96IW3
Alternative splicing: 2 isoforms:  O75147-1   O75147-2   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_056126.1  

    ENSEMBL proteins: 
    ENSP00000385636 ENSP00000362983 ENSP00000265317 ENSP00000265318 ENSP00000362980 ENSP00000289656 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
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    Browse Abcam for Recombinant Proteins
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    4 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0014704 intercalated disc TAS17289344
    GO:0030018 Z disc TAS17289344
    GO:0031430 M band TAS17289344
    GO:0048471 perinuclear region of cytoplasm TAS17289344
    About this table

    Antibodies for OBSL1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Browse R&D Systems for Antibodies
    Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for OBSL1

    Assays for OBSL1: 
    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

    5/8 InterPro domains/families (see all 8 ):
     IPR003598 Ig_sub2
     IPR007110 Ig-like
     IPR003599 Ig_sub
     IPR008957 Fibronectin_typ-III-like_fold
     IPR003961 FN_III


       GeneDecks  OBSL1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry O75147

    ProtoNet protein and cluster: O75147

    1 Blocks protein family: IPB013098 Immunoglobulin I-set

    UniProtKB/Swiss-Prot: OBSL1_HUMAN, O75147
    Similarity: Contains 1 fibronectin type-III domain
    Similarity: Contains 11 Ig-like (immunoglobulin-like) domains

    (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 (OBSL1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                    Browse Origene for 29mer shRNA kit in GFP-retroviral vector

                  Applied Biosystems Silencer® siRNAs for OBSL1

                  Sigma-Aldrich siRNA for OBSL1  
                         Browse shRNA at Sigma-Aldrich  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_015311
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_015311
                                     untagged cDNA clone in CMV expression vector: NM_015311 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_015311

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008093 cytoskeletal adaptor activity NAS17289344
    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


      --

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007010 cytoskeleton organization NAS17289344
    GO:0055003 cardiac myofibril assembly IEP17289344
    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 OBSL1

    (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 (OBSL1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                    Browse Origene for 29mer shRNA kit in GFP-retroviral vector

                  Sigma-Aldrich siRNA for OBSL1  
                         Browse shRNA at Sigma-Aldrich  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_015311  

    REFSEQ mRNAs for OBSL1 gene: 

    NM_015311.1   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_015311  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_015311
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_015311
                                     untagged cDNA clone in CMV expression vector: NM_015311 

    Additional cDNA sequence: 

    AB014557.2 AF035292.1 AK023854.1 AK025946.1 AK092118.1 AK299261.1 BC007201.1 BC061909.1 
    CR590353.1 CR602668.1 CR607106.1 EF063637.1 EF063638.1 

    24 DOTS entries:

    DT.99963032  DT.216748  DT.405896  DT.110924  DT.91750101  DT.97846331  DT.429047  DT.87015490 
    DT.95312530  DT.97846329  DT.95141774  DT.95155791  DT.100704378  DT.40258328  DT.75119264  DT.91811417 
    DT.100791274  DT.120947791  DT.120947803  DT.40122355  DT.40267058  DT.91911246  DT.101961551  DT.120947777 

    24/323 AceView cDNA sequences (see all 323 ):

    AA988591 AI368888 F05060 AW874491 N57473 AI241134 AI017836 AU141131 
    T16558 T32113 Z44605 AI240918 BM023354 BM014515 AL079501 BM695897 
    AI820653 F10891 BM799726 AU119815 AA430576 AA878785 BM725404 AI978623 

    highest scoring ESTs for OBSL1:

    AI017836 AB014557 AA219338 AF035292 AI161267 AI660388 AI802325 AI885931 AW028092 AW410057 

    Unigene Cluster for OBSL1:

    Obscurin-like 1
    Hs.526594  [show with all ESTs]
    Unigene Representative Sequence: EF063638


    GeneLoc Exon Structure

    5/17 Alternative Splicing Database (ASD) splice patterns (SP) for OBSL1 (see all 17 )

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14a · 14b ^
    SP1:                                            -                                                     -           -                       -     -               
    SP2:                                            -                                                     -                                                         
    SP3:                                                                                                                                                            
    SP4:                                                                                                  -           -                                             
    SP5:                                                                                                                                                            

    ExUns: 15a · 15b ^ 16a · 16b · 16c ^ 17a · 17b · 17c · 17d · 17e ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24
    SP1:                          -                             -     -                       -                                 
    SP2:                                                                                                                        
    SP3:  -     -                                                                                                               
    SP4:                                                                                                                        
    SP5:                                                                                      -                 -     -         

    About this scheme

    ECgene alternative splicing isoforms for OBSL1

    6 Ensembl transcripts including schematic representations:
    ENST00000404537  ENST00000373876  ENST00000265317  ENST00000265318  ENST00000373873  ENST00000289656  
    (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

    OBSL1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for OBSL1

    1 / 2 / 3

    18 probe-sets matching OBSL1 gene


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

    66123_r_at2, 3 U95-C 1 1.00 1.00 0.30 1.22 AI017836 1.00 1.00 1.00 1
    90577_at2, 3 U95-E 1 1.00 1.00 0.65 0.72 AL041604 0.60 0.75 0.68 1
    35781_g_at2, 3 U95-A 1 1.00 1.00 0.89 1.03 AF035292 0.80 1.00 0.91 1
    35780_at2, 3 U95-A 1 1.00 1.00 0.87 0.96 AF035292 0.80 1.00 0.91 1
    35782_at2, 3 U95-A 1 1.00 1.00 0.61 0.93 AB014557 1.00 0.90 0.95 1

    84895_at2, 3 U95-E 1 0.69 1.00 0.65 1.18 AL041543 0.40 1.00 0.76 1

    212775_at2, 3 U133-A 1 1.00 1.00 -- -- AI978623 0.40 1.00 0.76 1

    213946_s_at2, 3 U133-A 1 1.00 1.00 -- -- AI633851 0.40 1.00 0.76 1

    227574_at2, 3 U133-B 1 1.00 1.00 -- -- BF446688 0.40 1.00 0.76 1

    212776_s_at2, 3 U133-A 1 1.00 1.00 -- -- AI978623 0.40 1.00 0.76 1

    227573_s_at2, 3 U133-B 1 1.00 1.00 -- -- BF446688 0.40 1.00 0.76 1

    214928_at2, 3 U133-A 2 1.00 0.95 -- -- AI915513 0.60 1.00 0.82 1

    212775_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    213946_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    227574_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    212776_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    227573_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    214928_at2 U133Plus2 2 1.00 0.95 -- -- -- -- -- -- --
    GeneDecks  OBSL1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.526594

    Expression variation in blood from EXPOLDB for OBSL1

    (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 OBSL1 gene from 5 species
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    OBSL11   -- obscurin-like 1 75.61(n)
    73.09(a)
    488539  XM_545659.2  XP_545659.2 
    cow
    (Bos taurus)
    OBSL11   -- obscurin-like 1 88.11(n)
    92.48(a)
    511087  NM_001075491.1  NP_001068959.1 
    rat
    (Rattus norvegicus)
    Obsl11   -- obscurin-like 1 73.94(n)
    72.23(a)
    363259  XM_343599.3  XP_343600.3 
    mouse
    (Mus musculus)
    Obsl11, 5 15
    obscurin-like 11, 5 82.7(n)1
    84.47(a)1
    987331  NM_178884.31  NP_849215.11 
     AI2254515  AK0298635  (see all 26)
    zebrafish
    (Danio rerio)
    CH211-247B3.31   -- novel protein similar to vertebrate obscurin, cytoskeletal more 47.61(n)
    39.39(a)
    563045  XM_001923603.1  XP_001923638.1 
    About this table        Species with no ortholog for OBSL1

    ENSEMBL Gene Tree for OBSL1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for OBSL1 gene
    OBSCN2  

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


    10/119 NCBI SNPs in OBSL1 are shown (see all 119 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 82)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs10398981,2
    C,F,H,O220138447(-) GGACAA/GGGTGT 1 R/K mis1 ese312Minor allele frequency- T:0.00MN EU EA WA NA 2582
    rs19832101,2
    A,C,F,H220129661(+) GTCAGG/CTCCGA 1 D/E mis1 ese39Minor allele frequency- C:0.24MN EU EA WA NA 958
    rs109328141,2
    C,F,H220127583(+) ACAGCC/TGTACT 1 Q/R mis1 ese34Minor allele frequency- T:0.03EU EA WA 412
    rs1885441,2
    C,F220126617(+) CTCTAG/TGTCGT 1 L/I mis1 ese36Minor allele frequency- T:0.07NA EA 504
    rs22782011,2
    A,C,F220131018(+) TCCCCA/GGGGGC 1 P/P syn1 ese31Minor allele frequency- G:0.28EA 1488
    rs31830991,2
    C,F,H220135639(-) CCAGAC/TGTCTC 1 D/D syn14Minor allele frequency- T:0.19EU EA WA 412
    rs109328161,2
    A,C,F220129200(+) CACACG/ATCCTG 1 D/D syn1 ese34Minor allele frequency- A:0.07EU EA WA 416
    rs37959911,2
    F,H220124502(+) TCTACC/TAGCAG 1 L/L syn1 ese35Minor allele frequency- T:0.03EA EU WA 1900
    rs108042751,2
    A,C220135591(+) CGCACG/TGCTGC 1 A/A syn10--------
    rs109328131,2
    C220127480(+) TCCGCC/TGTGAA 1 T/T syn1 ese30--------
    About this table

    HapMap Linkage Disequilibrium images for OBSL1 (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: 610991

    (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 PubMed articles for OBSL1 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)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 23363 HGNC: 29092 AceView: KIAA0657 Ensembl:ENSG00000124006 euGenes: HUgn23363
    ECgene: OBSL1 H-InvDB: OBSL1
    (According to HUGE)
    About This Section

    HUGE: KIAA0657
    (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 OBSL1:
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     TaqMan ® Genotyping Assays
      Free SNP selection tool



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