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

Gene ID: 23595, updated on 3-Apr-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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Location:
6q15
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (87590135..87677823)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (88798431..88886160)
105.20220307 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
  • 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. 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
  2. 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
  3. Architecture of the human origin recognition complex. Dhar SK, et al. J Biol Chem, 2001 Aug 3. PMID 11395502
  4. A structural role for ATP in the formation and stability of the human origin recognition complex. Ranjan A, et al. Proc Natl Acad Sci U S A, 2006 Mar 28. PMID 16549788, Free PMC Article
  5. 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

See all (85) 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
  
part_of 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_2023_10

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

  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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