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    ORC3 origin recognition complex subunit 3 [ Homo sapiens (human) ]

    Gene ID: 23595, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ORC3provided by HGNC
    Official Full Name
    origin recognition complex subunit 3provided by HGNC
    Primary source
    HGNC:HGNC:8489
    See related
    Ensembl:ENSG00000135336 MIM:604972; AllianceGenome:HGNC:8489
    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
    LAT; ORC3L; LATHEO
    Summary
    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 a subunit of the ORC complex. Studies of a similar gene in Drosophila suggested a possible role of this protein in neuronal proliferation and olfactory memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 9.4), adrenal (RPKM 6.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ORC3 in Genome Data Viewer
    Location:
    6q15
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (87590135..87677823)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (88798431..88886160)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (88299853..88377169)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 35 member A1 Neighboring gene RNA, U6 small nuclear 444, pseudogene Neighboring gene arginyl-tRNA synthetase 2, mitochondrial Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24797 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:88298835-88299796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:88301170-88301670 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:88301671-88302171 Neighboring gene NANOG hESC enhancer GRCh37_chr6:88313800-88314301 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:88323459-88323960 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:88349062-88349578 Neighboring gene MPRA-validated peak5943 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr6:88408207-88408726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24801 Neighboring gene akirin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24802 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24805 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:88445010-88445674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24808 Neighboring gene uncharacterized LOC101928911 Neighboring gene FOXA motif-containing MPRA enhancer 167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:88505589-88506090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:88506091-88506590 Neighboring gene NANOG hESC enhancer GRCh37_chr6:88508442-88508943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24810 Neighboring gene RNA, 7SL, cytoplasmic 183, pseudogene

    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. Identification and chromosomal localization of murine ORC3, a new member of the mouse origin recognition complex. Springer J, et al. Cytogenet Cell Genet, 1999. PMID 10702681
    2. The genetics of symptom-based phenotypes: toward a molecular classification of schizophrenia. DeRosse P, et al. Schizophr Bull, 2008 Nov. PMID 18628273, Free PMC Article
    3. Architecture of the human origin recognition complex. Dhar SK, et al. J Biol Chem, 2001 Aug 3. PMID 11395502
    4. Subsets of human origin recognition complex (ORC) subunits are expressed in non-proliferating cells and associate with non-ORC proteins. Thome KC, et al. J Biol Chem, 2000 Nov 10. PMID 10954718
    5. The Orc4p and Orc5p subunits of the Xenopus and human origin recognition complex are related to Orc1p and Cdc6p. Tugal T, et al. J Biol Chem, 1998 Dec 4. PMID 9829972

    See all (93) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    2. Lifetime severity of positive symptoms was significantly (P = 2.50 x 10(-5)) associated with a SNP within the origin recognition complex subunit 3-like (ORC3L) gene, a gene implicated in synaptic plasticity.
      Title: The genetics of symptom-based phenotypes: toward a molecular classification of schizophrenia.
    3. Study using HCT116 haplo-insufficient cells and Orc2 hypomorphic cells demonstrates that the binding of human Ku to replication origins precedes that of Orc-3, -4, and -6 subunit binding.
      Title: Ku80 binds to human replication origins prior to the assembly of the ORC complex.
    4. Functional studies of the Drosophila homolog
      Title: latheo encodes a subunit of the origin recognition complex and disrupts neuronal proliferation and adult olfactory memory when mutant.
    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

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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 DNA replication origin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA replication TAS
    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 glial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neural precursor cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of DNA replication preinitiation complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromosome, telomeric region HDA PubMed 
    located_in nuclear body 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 pre-replicative complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 3
    Names
    homolog of latheo, Drosophila
    origin recognition complex subunit Latheo
    origin recognition complex, subunit 3 honolog

    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.

    mRNA and Protein(s)

    1. NM_001197259.2 → NP_001184188.1  origin recognition complex subunit 3 isoform 3

      See identical proteins and their annotated locations for NP_001184188.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' coding region, resulting in a downstream AUG start codon, and also lacks three nts in an alternate splicing site in the 3' coding region, as compared to variant 1. The translation reading frame remains the same, and the resulting isoform (3) has a shorter N-terminus and lacks an internal aa, as compared to isoform 1.
      Source sequence(s)
      AK303195, BM971022, DC395106
      Consensus CDS
      CCDS56440.1
      UniProtKB/TrEMBL
      B4E014
      Related
      ENSP00000444695.1, ENST00000546266.5
      Conserved Domains (1) summary
      pfam07034
      Location:1 → 201
      ORC3_N; Origin recognition complex (ORC) subunit 3 N-terminus

    2. NM_012381.4 → NP_036513.2  origin recognition complex subunit 3 isoform 2

      See identical proteins and their annotated locations for NP_036513.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks three nts in an alternate splicing site in the 3' coding, as compared to variant 1. The translation reading frame remains the same, and the resulting isoform (2) lacks an internal aa, as compared to isoform 1.
      Source sequence(s)
      AF125507, BM971022
      Consensus CDS
      CCDS43486.1
      UniProtKB/Swiss-Prot
      A2A2T5, B4E025, Q13565, Q53GY6, Q5T159, Q6IUY7, Q86TN5, Q9UBD5, Q9UG44, Q9UNT6
      UniProtKB/TrEMBL
      B4E014
      Related
      ENSP00000376586.3, ENST00000392844.8
      Conserved Domains (2) summary
      pfam07034
      Location:18 → 344
      ORC3_N; Origin recognition complex (ORC) subunit 3 N-terminus
      pfam18137
      Location:596 → 708
      ORC_WH_C; Origin recognition complex winged helix C-terminal

    3. NM_181837.3 → NP_862820.1  origin recognition complex subunit 3 isoform 1

      See identical proteins and their annotated locations for NP_862820.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC047689, BM971022, DC395106
      Consensus CDS
      CCDS5012.1
      UniProtKB/TrEMBL
      B4E014
      Related
      ENSP00000257789.4, ENST00000257789.4
      Conserved Domains (2) summary
      pfam07034
      Location:18 → 344
      ORC3_N; Origin recognition complex (ORC) subunit 3 N-terminus
      pfam18137
      Location:597 → 709
      ORC_WH_C; Origin recognition complex winged helix C-terminal

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      87590135..87677823
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010632.3 → XP_016866121.1  origin recognition complex subunit 3 isoform X1

      UniProtKB/TrEMBL
      B4E014

    2. XM_017010633.3 → XP_016866122.1  origin recognition complex subunit 3 isoform X2

      UniProtKB/TrEMBL
      B4E014
      Related
      ENSP00000520852.1, ENST00000850561.1

    3. XM_047418550.1 → XP_047274506.1  origin recognition complex subunit 3 isoform X8

    4. XM_005248704.3 → XP_005248761.1  origin recognition complex subunit 3 isoform X3

      UniProtKB/TrEMBL
      B4E014
      Conserved Domains (1) summary
      pfam07034
      Location:18 → 344
      ORC3_N; Origin recognition complex (ORC) subunit 3 N-terminus

    5. XM_017010634.3 → XP_016866123.1  origin recognition complex subunit 3 isoform X4

      UniProtKB/TrEMBL
      B4E014

    6. XM_011535651.3 → XP_011533953.1  origin recognition complex subunit 3 isoform X5

      UniProtKB/TrEMBL
      B4E014
      Conserved Domains (1) summary
      pfam07034
      Location:18 → 306
      ORC3_N; Origin recognition complex (ORC) subunit 3 N-terminus

    7. XM_047418551.1 → XP_047274507.1  origin recognition complex subunit 3 isoform X9

    8. XM_017010635.3 → XP_016866124.1  origin recognition complex subunit 3 isoform X6

      UniProtKB/TrEMBL
      B4E014

    9. XM_047418552.1 → XP_047274508.1  origin recognition complex subunit 3 isoform X10

    10. XM_011535652.4 → XP_011533954.1  origin recognition complex subunit 3 isoform X11

      UniProtKB/TrEMBL
      B7Z8A5
      Conserved Domains (1) summary
      pfam07034
      Location:18 → 344
      ORC3_N; Origin recognition complex (ORC) subunit 3 N-terminus

    11. XM_047418548.1 → XP_047274504.1  origin recognition complex subunit 3 isoform X7

    12. XM_047418549.1 → XP_047274505.1  origin recognition complex subunit 3 isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      88798431..88886160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354970.1 → XP_054210945.1  origin recognition complex subunit 3 isoform X1

    2. XM_054354971.1 → XP_054210946.1  origin recognition complex subunit 3 isoform X2

    3. XM_054354978.1 → XP_054210953.1  origin recognition complex subunit 3 isoform X8

    4. XM_054354972.1 → XP_054210947.1  origin recognition complex subunit 3 isoform X3

    5. XM_054354973.1 → XP_054210948.1  origin recognition complex subunit 3 isoform X4

    6. XM_054354974.1 → XP_054210949.1  origin recognition complex subunit 3 isoform X5

    7. XM_054354979.1 → XP_054210954.1  origin recognition complex subunit 3 isoform X9

    8. XM_054354975.1 → XP_054210950.1  origin recognition complex subunit 3 isoform X6

    9. XM_054354980.1 → XP_054210955.1  origin recognition complex subunit 3 isoform X10

    10. XM_054354981.1 → XP_054210956.1  origin recognition complex subunit 3 isoform X11

    11. XM_054354976.1 → XP_054210951.1  origin recognition complex subunit 3 isoform X7

    12. XM_054354977.1 → XP_054210952.1  origin recognition complex subunit 3 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBD5.1 GenPept UniProtKB/Swiss-Prot:Q9UBD5

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