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Aliases for ORC6 Gene

Aliases for ORC6 Gene

  • Origin Recognition Complex Subunit 6 2 3 5
  • ORC6L 3 4
  • Origin Recognition Complex, Subunit 6 Homolog-Like (Yeast) 2
  • Origin Recognition Complex, Subunit 6 Like (Yeast) 2
  • Origin Recognition Complex, Subunit 6 2

External Ids for ORC6 Gene

Previous HGNC Symbols for ORC6 Gene

  • ORC6L

Previous GeneCards Identifiers for ORC6 Gene

  • GC16P046724

Summaries for ORC6 Gene

Entrez Gene Summary for ORC6 Gene

  • 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. Gene silencing studies with small interfering RNA demonstrated that this protein plays an essential role in coordinating chromosome replication and segregation with cytokinesis. [provided by RefSeq, Oct 2010]

GeneCards Summary for ORC6 Gene

ORC6 (Origin Recognition Complex Subunit 6) is a Protein Coding gene. Diseases associated with ORC6 include Meier-Gorlin Syndrome 3 and Meier-Gorlin Syndrome 1. Among its related pathways are E2F mediated regulation of DNA replication and CDK-mediated phosphorylation and removal of Cdc6.

UniProtKB/Swiss-Prot for ORC6 Gene

  • Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific 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. Does not bind histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3.

Gene Wiki entry for ORC6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ORC6 Gene

Genomics for ORC6 Gene

Regulatory Elements for ORC6 Gene

Enhancers for ORC6 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
GH16G046746 1.4 FANTOM5 ENCODE dbSUPER 11.2 +58.7 58710 3.7 PKNOX1 ATF1 NFIB ARID4B THRB ZNF48 RARA EGR1 FOS RELB MYLK3 SHCBP1 VPS35 ORC6 GPT2 GC16M046768 GC16P046705
GH16G046711 1.1 Ensembl ENCODE dbSUPER 11.5 +21.9 21858 0.6 RFX1 SAP130 NRF1 HLF CEBPB CEBPG CEBPA ZBTB33 MYLK3 ORC6 VPS35 GC16P046705 GC16M046768
GH16G046658 1 Ensembl ENCODE 11.9 -30.4 -30380 1.5 CTCF TBL1XR1 MAX ZNF384 RELA POLR2A EED ZNF143 ETV6 RELB VPS35 ORC6 ENSG00000261131 PIR53331
GH16G046832 0.8 ENCODE 11.1 +143.3 143301 0.2 SOX13 SAP130 ARID4B CEBPG ZNF384 ZNF644 RARA YY1 ZNF664 NR2F6 ORC6 VPS35 GPT2 C16orf87 CKBP1
GH16G046735 0.7 dbSUPER 11.5 +47.5 47507 3.6 SOX13 FOXA2 PKNOX1 CEBPG THRB ZNF644 ZNF121 SOX5 HLF FOXA3 MYLK3 VPS35 ORC6 SHCBP1 GPT2 GC16P046705 GC16M046768
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ORC6 on UCSC Golden Path with GeneCards custom track

Promoters for ORC6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000085468 -243 2801 HDGF PKNOX1 FOXA2 MLX AGO1 ZFP64 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for ORC6 Gene

Chromosome:
16
Start:
46,689,643 bp from pter
End:
46,698,394 bp from pter
Size:
8,752 bases
Orientation:
Plus strand

Genomic View for ORC6 Gene

Genes around ORC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ORC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ORC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ORC6 Gene

Proteins for ORC6 Gene

  • Protein details for ORC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5N6-ORC6_HUMAN
    Recommended name:
    Origin recognition complex subunit 6
    Protein Accession:
    Q9Y5N6
    Secondary Accessions:
    • B3KN89

    Protein attributes for ORC6 Gene

    Size:
    252 amino acids
    Molecular mass:
    28107 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 DBF4 (By similarity).

    Three dimensional structures from OCA and Proteopedia for ORC6 Gene

neXtProt entry for ORC6 Gene

Post-translational modifications for ORC6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ORC6 Gene

No data available for DME Specific Peptides for ORC6 Gene

Domains & Families for ORC6 Gene

Gene Families for ORC6 Gene

Protein Domains for ORC6 Gene

Suggested Antigen Peptide Sequences for ORC6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y5N6

UniProtKB/Swiss-Prot:

ORC6_HUMAN :
  • Belongs to the ORC6 family.
Family:
  • Belongs to the ORC6 family.
genes like me logo Genes that share domains with ORC6: view

Function for ORC6 Gene

Molecular function for ORC6 Gene

UniProtKB/Swiss-Prot Function:
Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific 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. Does not bind histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3.

Gene Ontology (GO) - Molecular Function for ORC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003688 DNA replication origin binding IBA --
GO:0005515 protein binding IPI 15232106
genes like me logo Genes that share ontologies with ORC6: view

Phenotypes for ORC6 Gene

MGI mutant phenotypes for ORC6:
inferred from 1 alleles
GenomeRNAi human phenotypes for ORC6:
genes like me logo Genes that share phenotypes with ORC6: view

Human Phenotype Ontology for ORC6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ORC6 Gene

Localization for ORC6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ORC6 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 ORC6 gene
Compartment Confidence
nucleus 5
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ORC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000808 origin recognition complex IDA 17716973
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005664 nuclear origin of replication recognition complex IEA,IBA --
genes like me logo Genes that share ontologies with ORC6: view

Pathways & Interactions for ORC6 Gene

genes like me logo Genes that share pathways with ORC6: view

Pathways by source for ORC6 Gene

Gene Ontology (GO) - Biological Process for ORC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0006260 DNA replication IEA,TAS --
GO:0006270 DNA replication initiation IBA --
GO:0051782 negative regulation of cell division IMP 22581055
genes like me logo Genes that share ontologies with ORC6: view

No data available for SIGNOR curated interactions for ORC6 Gene

Drugs & Compounds for ORC6 Gene

No Compound Related Data Available

Transcripts for ORC6 Gene

Unigene Clusters for ORC6 Gene

Origin recognition complex, subunit 6:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ORC6 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b
SP1: - - - -
SP2: - -
SP3: - - - - -
SP4: - - -
SP5: -
SP6:

Relevant External Links for ORC6 Gene

GeneLoc Exon Structure for
ORC6
ECgene alternative splicing isoforms for
ORC6

Expression for ORC6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ORC6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ORC6 Gene

This gene is overexpressed in Testis (x6.0).

Protein differential expression in normal tissues from HIPED for ORC6 Gene

This gene is overexpressed in Testis (29.5), Fetal ovary (27.3), and Ovary (12.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ORC6 Gene



Protein tissue co-expression partners for ORC6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ORC6 Gene:

ORC6

SOURCE GeneReport for Unigene cluster for ORC6 Gene:

Hs.49760

Phenotype-based relationships between genes and organs from Gene ORGANizer for ORC6 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 ORC6: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for ORC6 Gene

Orthologs for ORC6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ORC6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ORC6 34 35
  • 99.74 (n)
cow
(Bos Taurus)
Mammalia ORC6 34 35
  • 87.57 (n)
dog
(Canis familiaris)
Mammalia ORC6 34 35
  • 86.24 (n)
mouse
(Mus musculus)
Mammalia Orc6 34 16 35
  • 82.07 (n)
rat
(Rattus norvegicus)
Mammalia Orc6 34
  • 79.55 (n)
oppossum
(Monodelphis domestica)
Mammalia ORC6 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ORC6 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves ORC6 34 35
  • 64.08 (n)
lizard
(Anolis carolinensis)
Reptilia ORC6 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia orc6 34
  • 62.92 (n)
Str.6097 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.8017 34
zebrafish
(Danio rerio)
Actinopterygii orc6 34 35
  • 60.63 (n)
wufc22h10 34
fruit fly
(Drosophila melanogaster)
Insecta Orc6 35
  • 26 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons ORC6 34
  • 47.49 (n)
rice
(Oryza sativa)
Liliopsida Os07g0628600 34
  • 48.05 (n)
Species where no ortholog for ORC6 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ORC6 Gene

ENSEMBL:
Gene Tree for ORC6 (if available)
TreeFam:
Gene Tree for ORC6 (if available)

Paralogs for ORC6 Gene

No data available for Paralogs for ORC6 Gene

Variants for ORC6 Gene

Sequence variations from dbSNP and Humsavar for ORC6 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs387906969 Pathogenic, Meier-Gorlin syndrome 3 (MGORS3) [MIM:613803] 46,697,521(+) GGATT(A/C)TGAAG nc-transcript-variant, reference, missense
rs146795505 Pathogenic 46,689,707(+) CGCCA(C/T)GGGGT nc-transcript-variant, upstream-variant-2KB, reference, missense
rs572314014 Pathogenic 46,693,187(+) AGTAG(A/G)TATTT intron-variant
rs786205258 Pathogenic 46,692,443(+) ATCTT(-/TT)GAGTG nc-transcript-variant, reference, frameshift-variant
rs879255692 Pathogenic 46,696,056(+) GAGAA(-/AGAA)GATAG nc-transcript-variant, downstream-variant-500B, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for ORC6 Gene

Variant ID Type Subtype PubMed ID
dgv2975n100 CNV gain 25217958
esv3571142 CNV gain 25503493
esv3638534 CNV gain 21293372
esv3638540 CNV gain 21293372
esv3892855 CNV loss 25118596
nsv1066115 CNV gain 25217958
nsv526656 CNV gain 19592680
nsv572536 CNV loss 21841781

Variation tolerance for ORC6 Gene

Residual Variation Intolerance Score: 37.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.67; 14.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ORC6 Gene

Human Gene Mutation Database (HGMD)
ORC6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ORC6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ORC6 Gene

Disorders for ORC6 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ORC6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
meier-gorlin syndrome 3
  • mgors3
meier-gorlin syndrome 1
  • meier-gorlin syndrome
seckel syndrome 1
  • seckel syndrome type 1
growth hormone deficiency, isolated, type ia
  • isolated growth hormone deficiency, type ia
seckel syndrome
  • bird-headed dwarfism
- elite association - COSMIC cancer census association via MalaCards
Search ORC6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ORC6_HUMAN
  • Meier-Gorlin syndrome 3 (MGORS3) [MIM:613803]: 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:21358632}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ORC6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ORC6
genes like me logo Genes that share disorders with ORC6: view

No data available for Genatlas for ORC6 Gene

Publications for ORC6 Gene

  1. ATP-dependent assembly of the human origin recognition complex. (PMID: 17716973) Siddiqui K. … Stillman B. (J. Biol. Chem. 2007) 3 4 22 64
  2. Identification and characterization of the human ORC6 homolog. (PMID: 10945994) Dhar S.K. … Dutta A. (J. Biol. Chem. 2000) 2 3 22 64
  3. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. (PMID: 21358632) Bicknell L.S. … Jackson A.P. (Nat. Genet. 2011) 3 4 64
  4. Structural analysis of human Orc6 protein reveals a homology with transcription factor TFIIB. (PMID: 21502537) Liu S. … Liu Y. (Proc. Natl. Acad. Sci. U.S.A. 2011) 3 4 64
  5. Functional analysis of an Orc6 mutant in Drosophila. (PMID: 19541634) Balasov M. … Chesnokov I. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 22 64

Products for ORC6 Gene

Sources for ORC6 Gene

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