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 g... See more...

Aliases for ORC1 Gene

Aliases for ORC1 Gene

  • Origin Recognition Complex Subunit 1 2 3 4 5
  • Replication Control Protein 1 2 3 4
  • PARC1 2 3 4
  • HSORC1 2 3
  • ORC1L 3 4
  • Origin Recognition Complex, Subunit 1, S. Cerevisiae, Homolog-Like 2
  • Origin Recognition Complex, Subunit 1 Homolog (S. Cerevisiae) 2
  • Origin Recognition Complex, Subunit 1 (Yeast Homolog)-Like 2
  • Origin Recognition Complex, Subunit 1-Like (Yeast) 2
  • Origin Recognition Complex, Subunit 1 Homolog 3
  • Origin Recognition Complex, Subunit 1 2
  • Origin Recognition Complex 1 2
  • ORC1 5

External Ids for ORC1 Gene

Previous HGNC Symbols for ORC1 Gene

  • ORC1L

Previous GeneCards Identifiers for ORC1 Gene

  • GC01M052839

Summaries for ORC1 Gene

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 Genitourinary Tract Anomalies. Among its related pathways are E2F mediated regulation of DNA replication and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is CDC6.

UniProtKB/Swiss-Prot Summary for ORC1 Gene

  • 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ORC1 Gene

Genomics for ORC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ORC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ORC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ORC1

Genomic Locations for ORC1 Gene

Latest Assembly
chr1:52,372,829-52,404,446
(GRCh38/hg38)
Size:
31,618 bases
Orientation:
Minus strand

Previous Assembly
chr1:52,838,501-52,870,095
(GRCh37/hg19 by Entrez Gene)
Size:
31,595 bases
Orientation:
Minus strand

chr1:52,838,501-52,870,131
(GRCh37/hg19 by Ensembl)
Size:
31,631 bases
Orientation:
Minus strand

Genomic View for ORC1 Gene

Genes around ORC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ORC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ORC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ORC1 Gene

Proteins for ORC1 Gene

  • Protein details for ORC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13415-ORC1_HUMAN
    Recommended name:
    Origin recognition complex subunit 1
    Protein Accession:
    Q13415
    Secondary Accessions:
    • D3DQ34
    • Q13471
    • Q5T0F5

    Protein attributes for ORC1 Gene

    Size:
    861 amino acids
    Molecular mass:
    97350 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for ORC1 Gene

neXtProt entry for ORC1 Gene

Post-translational modifications for ORC1 Gene

Other Protein References for ORC1 Gene

No data available for DME Specific Peptides for ORC1 Gene

Domains & Families for ORC1 Gene

Gene Families for ORC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ORC1 Gene

InterPro:
Blocks:
  • Bromo adjacent region

Suggested Antigen Peptide Sequences for ORC1 Gene

GenScript: Design optimal peptide antigens:
  • Replication control protein 1 (ORC1_HUMAN)
  • Origin recognition complex, subunit 1-like (Yeast) (Q96F82_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13415

UniProtKB/Swiss-Prot:

ORC1_HUMAN :
  • The BAH domain mediates binding to dimethylated histone H4 'Lys-20' (H4K20me2), which is enriched at replication origins.
  • Belongs to the ORC1 family.
Domain:
  • The BAH domain mediates binding to dimethylated histone H4 'Lys-20' (H4K20me2), which is enriched at replication origins.
Family:
  • Belongs to the ORC1 family.
genes like me logo Genes that share domains with ORC1: view

Function for ORC1 Gene

Molecular function for ORC1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for ORC1 Gene

Gene Ontology (GO) - Molecular Function for ORC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding TAS 7502077
GO:0003682 chromatin binding IEA --
GO:0003688 DNA replication origin binding IBA 21873635
GO:0005515 protein binding IPI 11931757
genes like me logo Genes that share ontologies with ORC1: view
genes like me logo Genes that share phenotypes with ORC1: view

Human Phenotype Ontology for ORC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ORC1 Gene

MGI Knock Outs for ORC1:
  • Orc1 Orc1<tm1b(KOMP)Wtsi>
  • Orc1 Orc1<tm1a(KOMP)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for ORC1

miRNA for ORC1 Gene

miRTarBase miRNAs that target ORC1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ORC1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ORC1 Gene

Localization for ORC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ORC1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ORC1 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ORC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 colocalizes_with chromosome, telomeric region IDA 24270157
GO:0000808 origin recognition complex IDA 17716973
GO:0005634 nucleus TAS 7502077
GO:0005654 nucleoplasm TAS --
GO:0005664 nuclear origin of replication recognition complex IBA,IDA 20932478
genes like me logo Genes that share ontologies with ORC1: view

Pathways & Interactions for ORC1 Gene

genes like me logo Genes that share pathways with ORC1: view

Pathways by source for ORC1 Gene

2 GeneGo (Thomson Reuters) pathways for ORC1 Gene
  • Cell cycle Start of DNA replication in early S phase
  • Cell cycle_Role of APC in cell cycle regulation
1 Qiagen pathway for ORC1 Gene
  • Cell Cycle Control of Chromosomal Replication
1 Cell Signaling Technology pathway for ORC1 Gene

SIGNOR curated interactions for ORC1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ORC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle TAS --
GO:0006260 DNA replication TAS --
GO:0006270 DNA replication initiation TAS,IBA 21873635
GO:0033314 mitotic DNA replication checkpoint IBA 21873635
genes like me logo Genes that share ontologies with ORC1: view

Drugs & Compounds for ORC1 Gene

No Compound Related Data Available

Transcripts for ORC1 Gene

mRNA/cDNA for ORC1 Gene

3 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ORC1

Alternative Splicing Database (ASD) splice patterns (SP) for ORC1 Gene

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:

Relevant External Links for ORC1 Gene

GeneLoc Exon Structure for
ORC1

Expression for ORC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ORC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ORC1 Gene

This gene is overexpressed in Testis (x5.5).

Protein differential expression in normal tissues from HIPED for ORC1 Gene

This gene is overexpressed in Heart (42.2) and Prostate (17.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ORC1 Gene



Protein tissue co-expression partners for ORC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ORC1

SOURCE GeneReport for Unigene cluster for ORC1 Gene:

Hs.17908

Phenotype-based relationships between genes and organs from Gene ORGANizer for ORC1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • breast
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • stomach
Pelvis:
  • pelvis
  • penis
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ORC1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for ORC1 Gene

Orthologs for ORC1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ORC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ORC1 29 30
  • 99.26 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ORC1 29 30
  • 85.66 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ORC1 29 30
  • 84.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Orc1 29
  • 76.96 (n)
Mouse
(Mus musculus)
Mammalia Orc1 29 16 30
  • 76.07 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ORC1 30
  • 55 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ORC1 30
  • 41 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ORC1 29 30
  • 60.88 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ORC1 30
  • 47 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia orc1 29
  • 58.58 (n)
African clawed frog
(Xenopus laevis)
Amphibia XORC1 29
Zebrafish
(Danio rerio)
Actinopterygii orc1 29 30
  • 55.29 (n)
OneToOne
wufa11h08 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6145 29
Fruit Fly
(Drosophila melanogaster)
Insecta Orc1 30
  • 26 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea orc-1 30
  • 25 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC6 30
  • 16 (a)
OneToMany
ORC1 32 32
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.987 30
  • 60 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14864 29
Species where no ortholog for ORC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ORC1 Gene

ENSEMBL:
Gene Tree for ORC1 (if available)
TreeFam:
Gene Tree for ORC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ORC1: view image
Alliance of Genome Resources:
Additional Orthologs for ORC1

Paralogs for ORC1 Gene

Paralogs for ORC1 Gene

(1) SIMAP similar genes for ORC1 Gene using alignment to 1 proteins:

  • ORC1_HUMAN

Pseudogenes.org Pseudogenes for ORC1 Gene

genes like me logo Genes that share paralogs with ORC1: view

Variants for ORC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ORC1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1002759 Uncertain Significance: not provided 52,373,254(-) C/G
NM_004153.4(ORC1):c.2513G>C (p.Arg838Thr)
MISSENSE
1018780 Uncertain Significance: not provided 52,373,279(-) G/A
NM_004153.4(ORC1):c.2488C>T (p.Arg830Cys)
MISSENSE
1020946 Uncertain Significance: not provided 52,393,474(-) C/T
NM_004153.4(ORC1):c.1051G>A (p.Val351Met)
MISSENSE
1021698 Uncertain Significance: not provided 52,396,078(-) G/T
NM_004153.4(ORC1):c.689C>A (p.Thr230Asn)
MISSENSE
1028196 Uncertain Significance: Meier-Gorlin syndrome 1 52,385,162(-) C/T
NM_004153.4(ORC1):c.1582G>A (p.Gly528Arg)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ORC1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ORC1 Gene

Variant ID Type Subtype PubMed ID
nsv472181 CNV novel sequence insertion 20440878

Variation tolerance for ORC1 Gene

Residual Variation Intolerance Score: 34% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.85; 67.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ORC1 Gene

Human Gene Mutation Database (HGMD)
ORC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ORC1
Leiden Open Variation Database (LOVD)
ORC1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ORC1 Gene

Disorders for ORC1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ORC1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
meier-gorlin syndrome 1
  • mgors1
genitourinary tract anomalies
malaria
  • malaria, susceptibility to
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards
Search ORC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ORC1_HUMAN
  • 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. {ECO:0000269 PubMed:21358631, ECO:0000269 PubMed:21358632, ECO:0000269 PubMed:21358633}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ORC1

genes like me logo Genes that share disorders with ORC1: view

No data available for Genatlas for ORC1 Gene

Publications for ORC1 Gene

  1. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. (PMID: 21358632) Bicknell LS … Jackson AP (Nature genetics 2011) 3 4 72
  2. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. (PMID: 21358631) Guernsey DL … Samuels ME (Nature genetics 2011) 3 4 72
  3. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. (PMID: 21358633) Bicknell LS … Jeggo PA (Nature genetics 2011) 3 4 72
  4. The ORC1 cycle in human cells: I. cell cycle-regulated oscillation of human ORC1. (PMID: 12909627) Tatsumi Y … Obuse C (The Journal of biological chemistry 2003) 3 4 22
  5. Human CDC6/Cdc18 associates with Orc1 and cyclin-cdk and is selectively eliminated from the nucleus at the onset of S phase. (PMID: 9566895) Saha P … Dutta A (Molecular and cellular biology 1998) 3 4 22

Products for ORC1 Gene

Sources for ORC1 Gene