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    ORC6 origin recognition complex subunit 6 [ Homo sapiens (human) ]

    Gene ID: 23594, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ORC6provided by HGNC
    Official Full Name
    origin recognition complex subunit 6provided by HGNC
    Primary source
    HGNC:HGNC:17151
    See related
    Ensembl:ENSG00000091651 MIM:607213; AllianceGenome:HGNC:17151
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ORC6L
    Summary
    The origin recognition complex (ORC) is a highly conserved six subunit 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 a subunit of the ORC complex. Gene silencing studies with small interfering RNA demonstrated that this protein plays an essential role in coordinating chromosome replication and segregation with cytokinesis. [provided by RefSeq, Oct 2010]
    Expression
    Broad expression in testis (RPKM 6.8), bone marrow (RPKM 5.0) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ORC6 in Genome Data Viewer
    Location:
    16q11.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (46689659..46698394)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (52486533..52495295)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (46723571..46732306)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RAB43 pseudogene 1 Neighboring gene VPS35 retromer complex component Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7430 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:46722561-46723258 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:46723259-46723957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10772 Neighboring gene myosin light chain kinase 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:46760810-46761360 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:46769513-46770212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10773 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:46781193-46782042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:46790891-46791426 Neighboring gene NANOG hESC enhancer GRCh37_chr16:46802782-46803317 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:46811535-46812050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:46812051-46812566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10774 Neighboring gene NFE2 like bZIP transcription factor 3 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10776

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification and characterization of the human ORC6 homolog. Dhar SK, et al. J Biol Chem, 2000 Nov 10. PMID 10945994
    2. [A boy with Meier-Gorlin syndrome carrying a novel ORC6 mutation and uniparental disomy of chromosome 16]. Li J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2017 Feb 10. PMID 28186598
    3. Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3. Shalev SA, et al. Am J Med Genet A, 2015 Mar. PMID 25691413
    4. Structural analysis of human Orc6 protein reveals a homology with transcription factor TFIIB. Liu S, et al. Proc Natl Acad Sci U S A, 2011 May 3. PMID 21502537, Free PMC Article
    5. Structural basis of DNA replication origin recognition by human Orc6 protein binding with DNA. Xu N, et al. Nucleic Acids Res, 2020 Nov 4. PMID 32986843, Free PMC Article

    See all (66) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Phosphorylation of Orc6 During Mitosis Regulates DNA Replication and Ribosome Biogenesis.
      Title: Phosphorylation of Orc6 During Mitosis Regulates DNA Replication and Ribosome Biogenesis.
    2. A miR-361-5p/ ORC6/ PLK1 axis regulates prostate cancer progression.
      Title: A miR-361-5p/ ORC6/ PLK1 axis regulates prostate cancer progression.
    3. Origin recognition complex 6 overexpression promotes growth of glioma cells.
      Title: Origin recognition complex 6 overexpression promotes growth of glioma cells.
    4. Long Non-coding RNA COX10-AS1 Promotes Glioma Progression by Competitively Binding miR-1-3p to Regulate ORC6 Expression.
      Title: Long Non-coding RNA COX10-AS1 Promotes Glioma Progression by Competitively Binding miR-1-3p to Regulate ORC6 Expression.
    5. Multi-omics analysis reveals the involvement of origin recognition complex subunit 6 in tumor immune regulation and malignant progression.
      Title: Multi-omics analysis reveals the involvement of origin recognition complex subunit 6 in tumor immune regulation and malignant progression.
    6. DNA Damage-Induced, S-Phase Specific Phosphorylation of Orc6 is Critical for the Maintenance of Genome Stability.
      Title: DNA Damage-Induced, S-Phase Specific Phosphorylation of Orc6 is Critical for the Maintenance of Genome Stability.
    7. ORC6, a novel prognostic biomarker, correlates with T regulatory cell infiltration in prostate adenocarcinoma: a pan-cancer analysis.
      Title: ORC6, a novel prognostic biomarker, correlates with T regulatory cell infiltration in prostate adenocarcinoma: a pan-cancer analysis.
    8. Orc6 is a component of the replication fork and enables efficient mismatch repair.
      Title: Orc6 is a component of the replication fork and enables efficient mismatch repair.
    9. Humanized Drosophila Model of the Meier-Gorlin Syndrome Reveals Conserved and Divergent Features of the Orc6 Protein.
      Title: Humanized Drosophila Model of the Meier-Gorlin Syndrome Reveals Conserved and Divergent Features of the Orc6 Protein.
    10. Structural basis of DNA replication origin recognition by human Orc6 protein binding with DNA.
      Title: Structural basis of DNA replication origin recognition by human Orc6 protein binding with DNA.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Meier-Gorlin syndrome 3
    MedGen: C3151113 OMIM: 613803 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA replication initiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA replication initiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    part_of nuclear origin of replication recognition complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of nuclear origin of replication recognition complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of origin recognition complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    origin recognition complex subunit 6

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028241.1 RefSeqGene

      Range
      5014..13749
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014321.4 → NP_055136.1  origin recognition complex subunit 6

      See identical proteins and their annotated locations for NP_055136.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      BC050725, BC063565
      Consensus CDS
      CCDS10722.1
      UniProtKB/Swiss-Prot
      B3KN89, Q9Y5N6
      UniProtKB/TrEMBL
      B3KMP9
      Related
      ENSP00000219097.2, ENST00000219097.7
      Conserved Domains (3) summary
      cd11583
      Location:94 → 186
      Orc6_mid; Middle domain of the origin recognition complex subunit 6
      cd16075
      Location:199 → 249
      ORC6_CTD; C-terminal domain of the eukaryotic origin recognition complex subunit ORC6
      pfam05460
      Location:6 → 94
      ORC6; Origin recognition complex subunit 6 (ORC6)

    RNA

    1. NR_037620.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most [supported/expected] translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC007225, BC050725, BC063565, BG822640

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      46689659..46698394
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522978.4 → XP_011521280.1  origin recognition complex subunit 6 isoform X1

      Conserved Domains (2) summary
      pfam05460
      Location:6 → 94
      ORC6; Origin recognition complex subunit 6 (ORC6)
      cl21687
      Location:94 → 150
      Orc6_mid; Middle domain of the origin recognition complex subunit 6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      52486533..52495295
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379984.1 → XP_054235959.1  origin recognition complex subunit 6 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y5N6.1 GenPept UniProtKB/Swiss-Prot:Q9Y5N6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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