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    ORC5 origin recognition complex subunit 5 [ Homo sapiens (human) ]

    Gene ID: 5001, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ORC5provided by HGNC
    Official Full Name
    origin recognition complex subunit 5provided by HGNC
    Primary source
    HGNC:HGNC:8491
    See related
    Ensembl:ENSG00000164815 MIM:602331; AllianceGenome:HGNC:8491
    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
    ORC5L; ORC5P; ORC5T; PPP1R117
    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. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Oct 2010]
    Expression
    Ubiquitous expression in testis (RPKM 5.7), prostate (RPKM 4.4) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See ORC5 in Genome Data Viewer
    Location:
    7q22.1-q22.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (104126341..104208013, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (105440576..105522271, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (103766788..103848461, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene SLC26A5 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:103130126-103131325 Neighboring gene uncharacterized LOC105375435 Neighboring gene Sharpr-MPRA regulatory region 15155 Neighboring gene RN7SK pseudogene 86 Neighboring gene reelin Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:103301048-103302247 Neighboring gene Sharpr-MPRA regulatory region 11588 Neighboring gene MPRA-validated peak6667 silencer Neighboring gene Sharpr-MPRA regulatory region 1232 Neighboring gene CRISPRi-validated cis-regulatory element chr7.3907 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:103691916-103692125 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:103765716-103765879 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26445 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:103904410-103905609 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:103916337-103917536 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:104001319-104001836 Neighboring gene LHFPL tetraspan subfamily member 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:104169841-104171040 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:104190573-104191772 Neighboring gene eukaryotic translation initiation factor 4B pseudogene 6 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:104412644-104413408 Neighboring gene LHFPL3 antisense RNA 1

    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 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. Mutation analysis of the origin recognition complex subunit 5 (ORC5L) gene in adult patients with myeloid leukemias exhibiting deletions of chromosome band 7q22. Fröhling S, et al. Hum Genet, 2001 Apr. PMID 11379876
    2. Isolation of human and fission yeast homologues of the budding yeast origin recognition complex subunit ORC5: human homologue (ORC5L) maps to 7q22. Ishiai M, et al. Genomics, 1997 Dec 1. PMID 9417919
    3. Orc5 induces large-scale chromatin decondensation in a GCN5-dependent manner. Giri S, et al. J Cell Sci, 2016 Jan 15. PMID 26644179, Free PMC Article
    4. A human cancer cell line initiates DNA replication normally in the absence of ORC5 and ORC2 proteins. Shibata E, et al. J Biol Chem, 2020 Dec 11. PMID 32989049, Free PMC Article
    5. ORC5L, a new member of the human origin recognition complex, is deleted in uterine leiomyomas and malignant myeloid diseases. Quintana DG, et al. J Biol Chem, 1998 Oct 16. PMID 9765232

    See all (78) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A human cancer cell line initiates DNA replication normally in the absence of ORC5 and ORC2 proteins.
      Title: A human cancer cell line initiates DNA replication normally in the absence of ORC5 and ORC2 proteins.
    2. Orc5 associates with the H3 histone acetyl transferase GCN5 (also known as KAT2A), and this association enhances the chromatin-opening function of Orc5.
      Title: Orc5 induces large-scale chromatin decondensation in a GCN5-dependent manner.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA replication origin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables nucleotide binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA replication NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 
    involved_in regulation of DNA replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromosome, telomeric region HDA PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of nuclear origin of replication recognition complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of nuclear origin of replication recognition complex NAS
    Non-traceable Author Statement
    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 5
    Names
    protein phosphatase 1, regulatory subunit 117

    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_029899.2 RefSeqGene

      Range
      5000..86672
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002553.4 → NP_002544.1  origin recognition complex subunit 5 isoform 1

      See identical proteins and their annotated locations for NP_002544.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC007393, AK223361, BC023652
      Consensus CDS
      CCDS5734.1
      UniProtKB/Swiss-Prot
      A4D0P8, O43913, O60590, O95268
      UniProtKB/TrEMBL
      A4D0P7, Q53FC8
      Related
      ENSP00000297431.4, ENST00000297431.9
      Conserved Domains (2) summary
      pfam13191
      Location:8 → 155
      AAA_16; AAA ATPase domain
      pfam14630
      Location:177 → 431
      ORC5_C; Origin recognition complex (ORC) subunit 5 C-terminus

    2. NM_181747.4 → NP_859531.1  origin recognition complex subunit 5 isoform 2

      See identical proteins and their annotated locations for NP_859531.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks multiple 3' exon, but has an alternate 3' segment, as compared to variant 1. The resulting isoform (2) is much shorter and has a distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC007393, AF081459, AK223361
      Consensus CDS
      CCDS47681.1
      UniProtKB/Swiss-Prot
      O43913
      UniProtKB/TrEMBL
      Q53FC8
      Related
      ENSP00000395747.2, ENST00000447452.6
      Conserved Domains (2) summary
      pfam13191
      Location:8 → 155
      AAA_16; AAA ATPase domain
      pfam14630
      Location:177 → 290
      ORC5_C; Origin recognition complex (ORC) subunit 5 C-terminus

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      104126341..104208013 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420431.1 → XP_047276387.1  origin recognition complex subunit 5 isoform X2

    2. XM_011516273.4 → XP_011514575.1  origin recognition complex subunit 5 isoform X1

      Conserved Domains (3) summary
      COG1474
      Location:11 → 191
      CDC6; Cdc6-related protein, AAA superfamily ATPase [Replication, recombination and repair]
      pfam13191
      Location:8 → 155
      AAA_16; AAA ATPase domain
      pfam14630
      Location:177 → 228
      ORC5_C; Origin recognition complex (ORC) subunit 5 C-terminus

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      105440576..105522271 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358314.1 → XP_054214289.1  origin recognition complex subunit 5 isoform X2

    2. XM_054358313.1 → XP_054214288.1  origin recognition complex subunit 5 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001197292.1: Suppressed sequence

      Description
      NM_001197292.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43913.1 GenPept UniProtKB/Swiss-Prot:O43913

    Gene LinkOut

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

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