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Aliases for ORC1 Gene

Aliases for ORC1 Gene

  • Origin Recognition Complex Subunit 1 2 3 5
  • Replication Control Protein 1 2 3 4
  • ORC1L 3 4
  • PARC1 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
  • HSORC1 3

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 Microtia. Among its related pathways are E2F mediated regulation of DNA replication and Cell cycle. GO annotations related to this gene include chromatin binding. An important paralog of this gene is CDC6.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for ORC1 Gene

Genomics for ORC1 Gene

Regulatory Elements for ORC1 Gene

Enhancers for ORC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G052364 1.1 ENCODE 11.6 +38.8 38806 3.2 HDGF HNRNPUL1 PKNOX1 MLX CREB3L1 AGO1 ARID4B SIN3A FEZF1 DMAP1 CC2D1B ORC1 ENSG00000259818 PRPF38A ZCCHC11 ENSG00000272100
GH01G052368 1 ENCODE 11.6 +35.6 35637 1.4 HDGF ATF1 PKNOX1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF48 TCF12 CC2D1B ORC1 PODN ZCCHC11 PLA2G12AP1
GH01G052700 1.1 Ensembl ENCODE 10.4 -296.4 -296437 0.6 HDAC1 ATF1 RAD21 ZEB1 YY1 GTF3C2 ZNF366 SCRT2 CREM ZNF654 ENSG00000266993 MAGOH ENSG00000230953 ORC1 ZCCHC11 COA7 NDUFS5P3
GH01G052842 1.1 ENCODE 10.4 -439.4 -439364 3.4 PKNOX1 CREB3L1 ARNT AGO1 SIN3A FEZF1 ZNF2 ZNF143 ZNF207 KLF13 ZCCHC11 MAGOH ECHDC2 ENSG00000272100 ENSG00000230953 ZYG11B ORC1 ZYG11A PIR36649
GH01G052402 1.4 ENCODE dbSUPER 0.7 +0.2 190 3.2 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 MAGOH PRPF38A TXNDC12 KTI12 ORC1 PLA2G12AP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ORC1 on UCSC Golden Path with GeneCards custom track

Promoters for ORC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000006392 -29 2601 PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for ORC1 Gene

Chromosome:
1
Start:
52,372,829 bp from pter
End:
52,404,471 bp from pter
Size:
31,643 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

Suggested Antigen Peptide Sequences for ORC1 Gene

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.

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 IEA,TAS --
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding IPI 11931757
GO:0005524 ATP binding IEA --
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 tm1b(KOMP)Wtsi
  • Orc1 tm1a(KOMP)Wtsi

Animal Model Products

  • Taconic Biosciences Mouse Models for ORC1

CRISPR Products

Inhibitory RNA Products

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
plasma membrane 5
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for ORC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 colocalizes_with nuclear chromosome, telomeric region IDA 24270157
GO:0000808 origin recognition complex IDA 17716973
GO:0005634 nucleus IDA,TAS --
GO:0005654 nucleoplasm TAS --
GO:0005664 nuclear origin of replication recognition complex 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

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 7502077
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

Unigene Clusters for ORC1 Gene

Origin recognition complex, subunit 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
ORC1

Expression for ORC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for ORC1 Gene



Protein tissue co-expression partners for ORC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ORC1 Gene:

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
Organs:
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

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 34 35
  • 99.26 (n)
dog
(Canis familiaris)
Mammalia ORC1 34 35
  • 85.66 (n)
cow
(Bos Taurus)
Mammalia ORC1 34 35
  • 84.58 (n)
rat
(Rattus norvegicus)
Mammalia Orc1 34
  • 76.96 (n)
mouse
(Mus musculus)
Mammalia Orc1 34 16 35
  • 76.07 (n)
oppossum
(Monodelphis domestica)
Mammalia ORC1 35
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ORC1 35
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves ORC1 34 35
  • 60.88 (n)
lizard
(Anolis carolinensis)
Reptilia ORC1 35
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia orc1 34
  • 58.58 (n)
African clawed frog
(Xenopus laevis)
Amphibia XORC1 34
zebrafish
(Danio rerio)
Actinopterygii orc1 34 35
  • 55.29 (n)
wufa11h08 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6145 34
fruit fly
(Drosophila melanogaster)
Insecta Orc1 35
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea orc-1 35
  • 25 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC6 35
  • 16 (a)
OneToMany
ORC1 37
sea squirt
(Ciona savignyi)
Ascidiacea CSA.987 35
  • 60 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14864 34
Species where no ortholog for ORC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for ORC1 Gene

Paralogs for ORC1 Gene

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

Pseudogenes.org Pseudogenes for ORC1 Gene

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

Variants for ORC1 Gene

Sequence variations from dbSNP and Humsavar for ORC1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs143141689 Pathogenic, Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690] 52,397,773(+) GCTTC(C/T)GGCCC reference, missense, utr-variant-5-prime
rs201253919 Pathogenic, Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690] 52,383,437(+) CACCC(A/G)GTTCA reference, missense
rs387906826 Pathogenic, Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690] 52,397,707(-) TGCGG(A/G)GACCA reference, missense, utr-variant-5-prime
rs387906827 Pathogenic, Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690] 52,397,821(-) GTGGT(C/T)TGTCC reference, missense, utr-variant-5-prime
rs387906828 Pathogenic, Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690] 52,375,574(-) TGCAC(A/G)ACGGT reference, missense

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)

Relevant External Links for ORC1 Gene

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

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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
meier-gorlin syndrome 1
  • meier-gorlin syndrome
microtia
malaria
  • malaria, severe
growth hormone deficiency, isolated, type ia
  • isolated growth hormone deficiency, type ia
- 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 mutations affecting the gene represented in this entry.

Relevant External Links for ORC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. The ORC1 cycle in human cells: I. cell cycle-regulated oscillation of human ORC1. (PMID: 12909627) Tatsumi Y. … Obuse C. (J. Biol. Chem. 2003) 3 4 22 64
  2. 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. (Mol. Cell. Biol. 1998) 3 4 22 64
  3. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. (PMID: 21358631) Guernsey D.L. … Samuels M.E. (Nat. Genet. 2011) 3 4 64
  4. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. (PMID: 21358632) Bicknell L.S. … Jackson A.P. (Nat. Genet. 2011) 3 4 64
  5. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. (PMID: 21358633) Bicknell L.S. … Jeggo P.A. (Nat. Genet. 2011) 3 4 64

Products for ORC1 Gene

Sources for ORC1 Gene

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