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ORC1 Gene

protein-coding   GIFtS: 59
GCID: GC01M052839

Origin Recognition Complex, Subunit 1

(Previous names: origin recognition complex, subunit 1 (yeast homolog)-like,...)
(Previous symbol: ORC1L)
  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
Origin Recognition Complex, Subunit 11 2     Origin Recognition Complex, Subunit 1 Homolog (S. Cerevisiae)1
ORC1L1 2 3 5     Origin Recognition Complex, Subunit 1-Like (Yeast)1
Replication Control Protein 11 2 3     S. Cerevisiae1
PARC12 3     Subunit 11
homolog-like1     HSORC12
Origin Recognition Complex1     Origin Recognition Complex Subunit 12
Origin Recognition Complex 11     Origin Recognition Complex, Subunit 1 Homolog2
Origin Recognition Complex, Subunit 1 (Yeast Homolog)-Like1     

External Ids:    HGNC: 84871   Entrez Gene: 49982   Ensembl: ENSG000000858407   OMIM: 6019025   UniProtKB: Q134153   

Export aliases for ORC1 gene to outside databases


(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 ORC1 Gene:
The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the
initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically
to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6
and Mcm proteins. The protein encoded by this gene is the largest subunit of the ORC complex. While other ORC
subunits are stable throughout the cell cycle, the levels of this protein vary during the cell cycle, which has
been shown to be controlled by ubiquitin-mediated proteolysis after initiation of DNA replication. This protein
is found to be selectively phosphorylated during mitosis. It is also reported to interact with MYST histone
acetyltransferase 2 (MyST2/HBO1), a protein involved in control of transcription silencing. Alternatively spliced
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jun 2010)

GeneCards Summary for ORC1 Gene:
ORC1 (origin recognition complex, subunit 1) is a protein-coding gene. Diseases associated with ORC1 include meier-gorlin syndrome 1, and absent patella. GO annotations related to this gene include nucleoside-triphosphatase activity. An important paralog of this gene is CDC6.

UniProtKB/Swiss-Prot: ORC1_HUMAN, Q13415
Function: Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is
ATP-dependent. The DNA sequences that define origins of replication have not been identified yet. ORC is required
to assemble the pre-replication complex necessary to initiate DNA replication

Gene Wiki entry for ORC1 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_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Search for regulatory transcription factor binding sites for ORC1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidORC1 promoter sequence
   Search Chromatin IP Primers for ORC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ORC1


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

Entrez Gene cytogenetic band: 1p32   Ensembl cytogenetic band:  1p32.3   HGNC cytogenetic band: 1p32

ORC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ORC1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M052839:  view genomic region     (about GC identifiers)

Start:
52,838,501 bp from pter      End:
52,870,143 bp from pter
Size:
31,643 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: ORC1_HUMAN, Q13415 (See protein sequence)
Recommended Name: Origin recognition complex subunit 1  
Size: 861 amino acids; 97350 Da
Subunit: Component of ORC, a complex composed of at least 6 subunits: ORC1, ORC2, ORC3, ORC4, ORC5 and ORC6. ORC
is regulated in a cell-cycle dependent manner. It is sequentially assembled at the exit from anaphase of mitosis
and disassembled as cells enter S phase. Interacts with CDC6 and KAT7/HBO1. Interacts with LRWD1 predominantly
during the G1 phase and with less affinity during mitosis, when phosphorylated
Developmental stage: Expression is cell-cycle regulated, it starts to accumulate in mid-G1 phase, reaches a peak
at the G1/S boundary, and decreases to a basal level in S phase (at protein level)
Secondary accessions: D3DQ34 Q13471 Q5T0F5

Explore the universe of human proteins at neXtProt for ORC1: NX_Q13415

Explore proteomics data for ORC1 at MOPED

Post-translational modifications: 

  • Phosphorylated during mitosis1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ORC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001177747.1  NP_001177748.1  NP_004144.2  

    ENSEMBL proteins: 
     ENSP00000360623   ENSP00000360621  
    Reactome Protein details: Q13415

    ORC1 Human Recombinant Protein Products:

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    ORC1 Antibody Products:

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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:
    AATP: ATPases / AAA-type

    Selected InterPro protein domains (see all 7):
     IPR003959 ATPase_AAA_core
     IPR001025 BAH_dom
     IPR011991 WHTH_DNA-bd_dom
     IPR027417 P-loop_NTPase
     IPR020793 ORC1

    Graphical View of Domain Structure for InterPro Entry Q13415

    ProtoNet protein and cluster: Q13415

    1 Blocks protein domain: IPB001025 Bromo adjacent region

    UniProtKB/Swiss-Prot: ORC1_HUMAN, Q13415
    Domain: The BAH domain mediates binding to dimethylated histone H4 'Lys-20' (H4K20me2), which is enriched at
    replication origins (By similarity)
    Similarity: Belongs to the ORC1 family
    Similarity: Contains 1 BAH domain


    ORC1 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: ORC1_HUMAN, Q13415
    Function: Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is
    ATP-dependent. The DNA sequences that define origins of replication have not been identified yet. ORC is required
    to assemble the pre-replication complex necessary to initiate DNA replication

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding IEA--
    GO:0005515protein binding IPI11931757
    GO:0005524ATP binding IEA--
         
    ORC1 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for ORC1:
     Cell division defect  Decreased viability of wild-ty  Increased G2M DNA content, inc  Increased number of mitotic ce 

         1 MGI phenotypic allele for Orc1 (no phenotypes)

    ORC1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ORC1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ORC1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ORC1

    miRNA
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    miRTarBase miRNAs that target ORC1:
    hsa-mir-92b-3p (MIRT040662), hsa-mir-124-3p (MIRT023064), hsa-mir-215-5p (MIRT024795), hsa-mir-320a (MIRT044432), hsa-mir-192-5p (MIRT026765)

    Block miRNA regulation of human, mouse, rat ORC1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate ORC1:
    hsa-miR-587 hsa-miR-3611 hsa-miR-3148 hsa-miR-944
    SwitchGear 3'UTR luciferase reporter plasmidORC1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ORC1

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ORC1


    (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
    ORC1_HUMAN, Q13415: Nucleus

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000808origin recognition complex IDA17716973
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005664nuclear origin of replication recognition complex IDA--
    GO:0005730nucleolus IDA--

    ORC1 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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    SuperPaths for ORC1 About   (see all 11)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Activation of the pre-replicative complex
    Activation of the pre-replicative complex0.66
    Cell cycle Start of DNA replication in early S phase0.53
    DNA Replication0.66
    2E2F mediated regulation of DNA replication
    Mitotic G1-G1/S phases0.81
    E2F-enabled inhibition of pre-replication complex formation0.00
    G1/S Transition0.81
    G1/S-Specific Transcription0.00
    G1 to S cell cycle control0.35
    Assembly of the ORC complex at the origin of replication0.00
    E2F mediated regulation of DNA replication0.30
    3Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    4CDK-mediated phosphorylation and removal of Cdc6
    Switching of origins to a post-replicative state0.93
    Removal of licensing factors from origins0.86
    Orc1 removal from chromatin0.93
    M/G1 Transition0.81
    Regulation of DNA replication0.93
    DNA Replication Pre-Initiation0.81
    Synthesis of DNA0.92
    S Phase0.78
    5Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    Cell Cycle0.90

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ORC1
        Cell Cycle Control of Chromosomal Replication

    1 Cell Signaling Technology (CST) Pathway for ORC1
        Cell Cycle / Checkpoint Control

    2 GeneGo (Thomson Reuters) Pathways for ORC1
        Cell cycle Role of APC in cell cycle regulation
    Cell cycle Start of DNA replication in early S phase

    5 BioSystems Pathways for ORC1
        Cell cycle
    G1 to S cell cycle control
    DNA Replication
    RB in Cancer
    E2F transcription factor network

    Selected Reactome Pathways for ORC1 (see all 12)
        Activation of ATR in response to replication stress
    Removal of licensing factors from origins
    E2F-enabled inhibition of pre-replication complex formation
    Orc1 removal from chromatin
    E2F mediated regulation of DNA replication


    1 Kegg Pathway  (Kegg details for ORC1):
        Cell cycle


    ORC1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ORC1
    Interactions:

        Search GeneGlobe Interaction Network for ORC1

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

    Selected Interacting proteins for ORC1 (Q134151, 2, 3 ENSP000003606214) via UniProtKB, MINT, STRING, and/or I2D (see all 381)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC6Q997412, 3, ENSP000002097284MINT-50403 I2D: score=7 STRING: ENSP00000209728
    ORC2Q134161, 3, ENSP000002342964EBI-374847,EBI-374957 I2D: score=6 STRING: ENSP00000234296
    ORC5O439131, 3, ENSP000002974314EBI-374847,EBI-374928 I2D: score=6 STRING: ENSP00000297431
    ORC3Q9UBD51, 3, ENSP000002577894EBI-374847,EBI-374916 I2D: score=4 STRING: ENSP00000257789
    ABL1P005192, 3, ENSP000003614234MINT-8110599 I2D: score=3 STRING: ENSP00000361423
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000082G1/S transition of mitotic cell cycle TAS--
    GO:0000083regulation of transcription involved in G1/S transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0006260DNA replication TAS--
    GO:0006270DNA replication initiation TAS7502077

    ORC1 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 ORC1



    (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 ORC1 gene (3 alternative transcripts): 
    NM_001190818.1  NM_001190819.1  NM_004153.3  

    Unigene Cluster for ORC1:

    Origin recognition complex, subunit 1
    Hs.17908  [show with all ESTs]
    Unigene Representative Sequence: NM_004153
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371568(uc001ctt.3 uc010oni.2 uc001ctu.3) ENST00000371566

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    4 qRT-PCR Assays for microRNAs that regulate ORC1:
    hsa-miR-587 hsa-miR-3611 hsa-miR-3148 hsa-miR-944
    SwitchGear 3'UTR luciferase reporter plasmidORC1 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK291909.1 AK303420.1 BC011539.1 U40152.1 U43416.1 

    3 DOTS entries:

    DT.209714  DT.100742042  DT.75184465 

    Selected AceView cDNA sequences (see all 93):

    BQ423782 BM476715 CR594568 BQ433201 BM556110 BE937466 BU854819 BQ229865 
    BQ055912 BU198520 AU125429 BU854876 CR619175 BM743410 BX110476 BM852299 
    BU552785 AL558857 BX281133 BP364182 NM_004153 BU194186 AL530422 BF797918 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ORC1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                                                                          -                                                               
    SP2:                                                                                                                                          
    SP3:                                                                                                                                          
    SP4:                                                                                                                                          


    ECgene alternative splicing isoforms for ORC1

    (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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    ORC1 expression in normal human tissues (normalized intensities)      ORC1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTTTGGAA
    ORC1 Expression
    About this image


    ORC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Epiblast (Early Embryonic Tissues)
             Epiblast Stem Cell line 5
    ORC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ORC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.17908
        Custom PCR Arrays for ORC1
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    QuantiFast Probe-based Assays in human, mouse, rat ORC1
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ORC1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ORC1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Orc11 , 5 origin recognition complex, subunit 11, 5 76.07(n)1
    68.67(a)1
      4 (50.64 cM)5
    183921  NM_011015.21  NP_035145.21 
     1085794235 
    chicken
    (Gallus gallus)
    Aves ORC11 origin recognition complex, subunit 1 60.88(n)
    56.28(a)
      424640  NM_001031286.1  NP_001026457.1 
    lizard
    (Anolis carolinensis)
    Reptilia ORC16
    origin recognition complex, subunit 1
    47(a)
    1 ↔ 1
    4(114550694-114572314)
    African clawed frog
    (Xenopus laevis)
    Amphibia XORC12 origin recognition complex protein 1 75.43(n)    U67190.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa11h082 wufa11h08 74.45(n)   335020  BC047200.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Orc16
    Origin recognition complex subunit 1
    26(a)
    1 ↔ 1
    2R(3409940-3413213)
    worm
    (Caenorhabditis elegans)
    Secernentea orc-16
    Protein ORC-1 (orc-1) mRNA, complete cds
    25(a)
    1 ↔ 1
    III(10643065-10646107) WBGene00012650
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ORC1(YML065W)4 Largest subunit of the origin recognition complex, more   --   13(142210-144954) 854937  NP_013646.1 


    ENSEMBL Gene Tree for ORC1 (if available)
    TreeFam Gene Tree for ORC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ORC1 gene
    CDC62  
    1 SIMAP similar gene for ORC1 using alignment to 1 protein entry:     ORC1_HUMAN:
    ORC1L

    ORC1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ORC1
    PGOHUM00000241222


    (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 ORC1 (see all 727)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2012539191,2,,4
    Meier-Gorlin syndrome 1 (MGORS1)4 --52928280(+) CACCCA/GGTTCA 6 R W mis10--------
    VAR_0654814
    Meier-Gorlin syndrome 1 (MGORS1)4--see VAR_0654812 F S mis40--------
    VAR_0654854
    Meier-Gorlin syndrome 1 (MGORS1)4--see VAR_0654852 R Q mis40--------
    VAR_0654834
    Meier-Gorlin syndrome 1 (MGORS1)4--see VAR_0654832 E G mis40--------
    VAR_0654824
    Meier-Gorlin syndrome 1 (MGORS1)4--see VAR_0654822 R Q mis40--------
    rs3747772741,2
    C--50981426(+) ACTGT-/CA    
       
    /CACA
    CACAC
    3 -- int10--------
    rs1114606941,2
    C--50981427(+) ACTGTCA/-CACAC 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs570860861,2
    C--52840754(+) CTGTG-/GAAGTG 3 -- int10--------
    rs1128885471,2
    C--52843834(+) TAACAC/TGGTGA 3 -- int11Minor allele frequency- T:0.50CSA 2
    rs1139754221,2
    F--52848472(+) GTCTCG/AAACTC 3 -- int11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for ORC1 (52838501 - 52870143 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ORC1: --
    Human Gene Mutation Database (HGMD): ORC1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ORC1
    DNA2.0 Custom Variant and Variant Library Synthesis for ORC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601902   
    OMIM disorders: 224690  
    UniProtKB/Swiss-Prot: ORC1_HUMAN, Q13415
  • Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690]: A syndrome characterized by bilateral microtia,
    aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature
    and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently
    low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract
    anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial
    prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic
    patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 17 diseases for ORC1:    About MalaCards
    meier-gorlin syndrome 1    absent patella    meier-gorlin syndrome    ornithine translocase deficiency
    microtia    dwarfism    malaria    microcephaly
    short stature    cleft palate    retinoblastoma    tonsillitis
    multiple myeloma    myeloma    thyroiditis    cerebritis
    leukemia


    ORC1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ORC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    malaria 18.8 4 19633266 (2), 12543146 (1), 16216221 (1)


    Export disorders for ORC1 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 ORC1 gene, integrated from 10 sources (see all 92):
    (articles sorted by number of sources associating them with ORC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The ORC1 cycle in human cells: I. cell cycle-regulated oscillation of human ORC1. (PubMed id 12909627)1, 2, 9 Tatsumi Y.... Obuse C. (J. Biol. Chem. 2003)
    2. Human CDC6/Cdc18 associates with Orc1 and cyclin-cdk and is selectively eliminated from the nucleus at the onset of S phase. (PubMed id 9566895)1, 2, 9 Saha P.... Dutta A. (Mol. Cell. Biol. 1998)
    3. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. (PubMed id 21358633)1, 2 Bicknell L.S.... Jeggo P.A. (Nat. Genet. 2011)
    4. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. (PubMed id 21358632)1, 2 Bicknell L.S....Jackson A.P. (Nat. Genet. 2011)
    5. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. (PubMed id 21358631)1, 2 Guernsey D.L.... Samuels M.E. (Nat. Genet. 2011)
    6. ATP-dependent assembly of the human origin recognition complex. (PubMed id 17716973)1, 2 Siddiqui K. and Stillman B. (J. Biol. Chem. 2007)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    8. The ORC1 cycle in human cells: II. Dynamic changes in the human ORC complex during the cell cycle. (PubMed id 12909626)1, 2 Ohta S.... Obuse C. (J. Biol. Chem. 2003)
    9. Histone acetyltransferase HBO1 interacts with the ORC1 subunit of the human initiator protein. (PubMed id 10438470)1, 2 Iizuka M. and Stillman B. (J. Biol. Chem. 1999)
    10. Mapping of the human homologue (ORC1L) of the yeast origin recognition complex subunit 1 gene to chromosome band 1p32. (PubMed id 8884289)1, 3 Eki T....Hanaoka F. (Genomics 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 4998 HGNC: 8487 AceView: ORC1L Ensembl:ENSG00000085840 euGenes: HUgn4998
    ECgene: ORC1 Kegg: 4998 H-InvDB: ORC1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ORC1 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 ORC1 gene:
    Search GeneIP for patents involving ORC1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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