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OBSL1 Gene

protein-coding   GIFtS: 51
GCID: GC02M220415

Obscurin-Like 1

  See 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
Obscurin-Like 11 2
KIAA06573 5
Obscurin-Like Protein 12
3M25
EC 1.1.1.268
EC 2.7.4.68

External Ids:    HGNC: 290921   Entrez Gene: 233632   Ensembl: ENSG000001240067   OMIM: 6109915   UniProtKB: O751473   

Export aliases for OBSL1 gene to outside databases

Previous GC identifers: GC02M220242 GC02M220124 GC02M212268


(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 OBSL1 Gene:
Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This
gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein
contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain.
Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different
isoforms have been found in this gene. (provided by RefSeq, Mar 2010)

GeneCards Summary for OBSL1 Gene:
OBSL1 (obscurin-like 1) is a protein-coding gene. Diseases associated with OBSL1 include 3-m syndrome, obsl1-related, and 3-m syndrome 2. GO annotations related to this gene include cytoskeletal adaptor activity. An important paralog of this gene is MYOT.

UniProtKB/Swiss-Prot: OBSL1_HUMAN, O75147
Function: Regulates CUL7-FBXW8-containing ubiquitin ligase complex, playing a critical role in the ubiquitin
ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Localizes CUL7 to the Golgi
apparatus in neurons

Gene Wiki entry for OBSL1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the OBSL1 gene promoter:
         GR   Pax-5   GATA-6   p53   GR-beta   GR-alpha   GATA-2   E47   GATA-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for OBSL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OBSL1


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

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)
OBSL1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M220415:  view genomic region     (about GC identifiers)

Start:
220,415,450 bp from pter      End:
220,436,581 bp from pter
Size:
21,132 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: OBSL1_HUMAN, O75147 (See protein sequence)
Recommended Name: Obscurin-like protein 1  
Size: 1896 amino acids; 206947 Da
Subunit: Interacts with CCDC8. Interacts with CUL7; the interaction is direct. Interacts with FBXW8. Interacts
(via N-terminal Ig-like domain) with TTN/titin (via C-terminal Ig-like domain); the interaction is direct
Sequence caution: Sequence=AAH07201.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Selected PDB 3D structures from and Proteopedia for OBSL1 (see all 9):
2CPC (3D)        2E6P (3D)        2E6Q (3D)        2LU7 (3D)        2LVC (3D)        2WP3 (3D)    
Secondary accessions: A4KVA5 Q96IW3
Alternative splicing: 3 isoforms:  O75147-3   O75147-2   O75147-1   

Explore the universe of human proteins at neXtProt for OBSL1: NX_O75147

Explore proteomics data for OBSL1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for OBSL1 (O75147)
     ESDFVVL  VLEGENA  LEGENAV 


    See OBSL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001166879.1  NP_001166902.1  NP_056126.1  

    ENSEMBL proteins: 
     ENSP00000385636   ENSP00000362983   ENSP00000474519   ENSP00000475126   ENSP00000403665  
     ENSP00000362980   ENSP00000289656   ENSP00000265317   ENSP00000265318  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ISET: Immunoglobulin superfamily / I-set domain containing
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    Selected InterPro protein domains (see all 6):
     IPR003598 Ig_sub2
     IPR003961 Fibronectin_type3
     IPR013098 Ig_I-set
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry O75147

    ProtoNet protein and cluster: O75147

    1 Blocks protein domain: IPB013098 Immunoglobulin I-set

    UniProtKB/Swiss-Prot: OBSL1_HUMAN, O75147
    Similarity: Contains 1 fibronectin type-III domain
    Similarity: Contains 14 Ig-like (immunoglobulin-like) domains


    OBSL1 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OBSL1_HUMAN, O75147
    Function: Regulates CUL7-FBXW8-containing ubiquitin ligase complex, playing a critical role in the ubiquitin
    ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Localizes CUL7 to the Golgi
    apparatus in neurons

         Enzyme Numbers (IUBMB): EC 2.7.4.62 EC 1.1.1.262

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008093cytoskeletal adaptor activity NAS17289344
         
    OBSL1 for ontologies           About GeneDecksing


    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target OBSL1:
    hsa-mir-149-5p (MIRT045633)

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    (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 UniProtKB/Swiss-Prot
    OBSL1_HUMAN, O75147: Cytoplasm. Cytoplasm, perinuclear region. Golgi apparatus. Note=Colocalizes with CUL7 at the
    Golgi apparatus in neurons
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    plasma membrane2
    cytosol1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IDA--
    GO:0014704intercalated disc TAS17289344
    GO:0030018Z disc TAS17289344
    GO:0031430M band TAS17289344
    GO:0048471perinuclear region of cytoplasm TAS17289344

    OBSL1 for ontologies           About GeneDecksing


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OBSL1
    Interactions:

        Search GeneGlobe Interaction Network for OBSL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for OBSL1 (O751471, 2, 3 ENSP000003856364) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TTNQ8WZ421, 2, 3EBI-1223896,EBI-681210 MINT-7979729 MINT-7979611 MINT-7979766 MINT-7979747 MINT-7979789 MINT-7979631 MINT-7979704 MINT-7979686 I2D: score=1 
    CAMKK2Q96RR43, ENSP000003127414I2D: score=3 STRING: ENSP00000312741
    KBTBD7Q8WVZ93, ENSP000003687974I2D: score=3 STRING: ENSP00000368797
    TBKBP1A7MCY63, ENSP000003547774STRING: ENSP00000354777 I2D: score=1 
    ALBP027683, ENSP000002958974I2D: score=1 STRING: ENSP00000295897
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007010cytoskeleton organization NAS17289344
    GO:0007030Golgi organization IMP--
    GO:0034067protein localization to Golgi apparatus IMP--
    GO:0050775positive regulation of dendrite morphogenesis IMP--
    GO:0055003cardiac myofibril assembly NAS17289344

    OBSL1 for ontologies           About GeneDecksing



    (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 OBSL1



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for OBSL1 gene (3 alternative transcripts): 
    NM_001173408.1  NM_001173431.1  NM_015311.2  

    Unigene Cluster for OBSL1:

    Obscurin-like 1
    Hs.526594  [show with all ESTs]
    Unigene Representative Sequence: NM_015311
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000462534 ENST00000489804 ENST00000465149 ENST00000404537(uc010fwk.3 uc010fwl.2)
    ENST00000373876 ENST00000596474 ENST00000603926 ENST00000604031 ENST00000456147
    ENST00000472388 ENST00000373873(uc002vmi.3) ENST00000289656 ENST00000462385
    ENST00000465589 ENST00000491370 ENST00000265317(uc002vmh.1 uc010zli.1)
    ENST00000265318
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat OBSL1

    Additional mRNA sequence: 

    AF035292.1 AK023854.1 AK025946.1 AK092118.1 AK299261.1 BC007201.1 BC061909.1 EF063638.1 

    23 DOTS entries:

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

    Selected AceView cDNA sequences (see all 323):

    AI869747 CR602668 T32113 BX381924 AI820653 AI240918 CK904384 F13292 
    CR590353 BI003581 BX377136 AI798318 N57473 CA413436 BM711633 BF344378 
    AU119815 CA414466 F08331 AL079501 BQ181841 AA430576 F10891 AW874491 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for OBSL1 (see all 17)    About this scheme

    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:                                                                                      -                 -     -         


    ECgene alternative splicing isoforms for OBSL1

    (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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    OBSL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    OBSL1 Expression
    About this image


    OBSL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Kidney (Urinary System)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
    OBSL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OBSL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.526594

    UniProtKB/Swiss-Prot: OBSL1_HUMAN, O75147
    Tissue specificity: Widely expressed, with predominant levels found in the heart

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OBSL1

    (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.

    Orthologs for OBSL1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Obsl15 obscurin-like 1   --   1 (39.15 cM) 75479310 
    chicken
    (Gallus gallus)
    Aves OBSL11 obscurin-like 1 53.86(n)
    40.16(a)
      424198  XM_003641641.2  XP_003641689.2 
    lizard
    (Anolis carolinensis)
    Reptilia OBSL16
    obscurin-like 1
    45(a)
    1 ↔ 1
    1(94531587-94603714)
    zebrafish
    (Danio rerio)
    Actinopterygii obsl1a1 obscurin-like 1a 47.45(n)
    38.21(a)
      796577  NM_001128357.1  NP_001121829.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Unc-896
    Unc-89
    9(a)
    1 ↔ 1
    2R(19883066-19901384)
    worm
    (Caenorhabditis elegans)
    Secernentea ketn-16
    F54E2.46
    (see all 3)
    Protein F54E2.4 (F54E2.4) mRNA, complete cds
    (see all 3)
    8(a)
    21(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    V(2781483-2801027) WBGene00004130
    V(2805968-2807860) WBGene00043357


    ENSEMBL Gene Tree for OBSL1 (if available)
    TreeFam Gene Tree for OBSL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OBSL1 gene
    MYOT2  MYPN2  PALLD2  
    2 SIMAP similar genes for OBSL1 using alignment to 10 protein entries:     OBSL1_HUMAN (see all proteins):
    KIAA0992    PTPRS

    OBSL1 for paralogs           About GeneDecksing



    (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 OBSL1 (see all 713)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs67173941,2
    C,A--219796282(+) CTGCCG/AAGGCT 1 -- int1 ese313Minor allele frequency- A:0.06NA WA CSA EA 375
    rs1819132381,2
    --219796285(+) CCAAGG/TCTGAC 1 -- int10--------
    rs1455660611,2
    --219796340(+) GGAAGA/GAGGAG 1 -- int10--------
    rs1457707511,2
    C--219796374(+) TTGGT-/GAAGTG 1 -- int10--------
    rs769634281,2
    C,F--219796446(+) GGAGAG/AAGGAG 1 -- int11Minor allele frequency- A:0.13WA 118
    rs1862888731,2
    --219796483(+) GGTGGA/GAACAG 1 -- int10--------
    rs1403390991,2
    --219796566(+) CTCCCC/TCATCC 1 -- int10--------
    rs763676331,2
    C,F--219796598(+) ACCCGT/CTGCCA 1 -- int11Minor allele frequency- C:0.05WA 118
    rs67615751,2
    C,F,A,H--219796612(+) CAAGTC/TCTGGA 1 -- int1 ese316Minor allele frequency- T:0.17NS NA WA CSA EA 1389
    rs1148605481,2
    C,F--219796659(+) CAGGCG/ACCCTC 1 -- int11Minor allele frequency- A:0.11WA 118

    HapMap Linkage Disequilibrium report for OBSL1 (220415450 - 220436581 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for OBSL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2662450CNV Deletion23128226
    nsv508887CNV Insertion20534489
    dgv4438n71CNV Loss21882294
    nsv875876CNV Loss21882294
    nsv520958CNV Loss19592680
    nsv834545CNV Loss17160897
    nsv875875CNV Loss21882294

    Human Gene Mutation Database (HGMD): OBSL1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing OBSL1
    DNA2.0 Custom Variant and Variant Library Synthesis for OBSL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610991   
    OMIM disorders: 612921  
    UniProtKB/Swiss-Prot: OBSL1_HUMAN, O75147
  • 3M syndrome 2 (3M2) [MIM:612921]: An autosomal recessive disorder characterized by severe pre- and
    postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine
    function. Skeletal changes include long slender tubular bones and tall vertebral bodies. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 10 diseases for OBSL1:    
    About MalaCards
    3-m syndrome, obsl1-related    3-m syndrome 2    3-m syndrome    hydrocele
    dubowitz syndrome    mulibrey nanism    myopathy    multiple myeloma
    myeloma    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for OBSL1:
    Dubowitz Syndrome     Hydrocele

    OBSL1 for disorders           About GeneDecksing


    Export disorders for OBSL1 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 OBSL1 gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with OBSL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2, 3 Ishikawa K.... Ohara O. (DNA Res. 1998)
    2. Obscurin-like 1, OBSL1, is a novel cytoskeletal protein related to obscurin. (PubMed id 17289344)1, 2, 9 Geisler S.B.... Russell M.W. (Genomics 2007)
    3. Exome sequencing identifies CCDC8 mutations in 3-M syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth. (PubMed id 21737058)1, 2 Hanson D.... Black G.C. (Am. J. Hum. Genet. 2011)
    4. An OBSL1-Cul7Fbxw8 ubiquitin ligase signaling mechanism regulates Golgi morphology and dendrite patterning. (PubMed id 21572988)1, 2 Litterman N.... Bonni A. (PLoS Biol. 2011)
    5. The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. (PubMed id 19481195)1, 2 Hanson D.... Clayton P.E. (Am. J. Hum. Genet. 2009)
    6. 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. (Genome Res. 2004)
    7. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    8. Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies. (PubMed id 18477606)1, 9 Fukuzawa A....Gautel M. (J. Cell. Sci. 2008)
    9. Structural insight into M-band assembly and mechanics from the titin- obscurin-like-1 complex. (PubMed id 20133654)2, 9 Pernigo S....Gautel M. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    10. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)

    (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: 23363 HGNC: 29092 AceView: KIAA0657 Ensembl:ENSG00000124006 euGenes: HUgn23363
    ECgene: OBSL1 H-InvDB: OBSL1

    (According to HUGE)
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    HUGE: KIAA0657

    (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 OBSL1 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 OBSL1 gene:
    Search GeneIP for patents involving OBSL1

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



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