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Protein

Origin recognition complex subunit 6

Gene

ORC6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 H4K20me3.1 Publication

GO - Molecular functioni

GO - Biological processi

  • DNA replication Source: Reactome
  • DNA replication initiation Source: GO_Central
  • G1/S transition of mitotic cell cycle Source: Reactome
  • negative regulation of cell division Source: CAFA

Keywordsi

Molecular functionDNA-binding
Biological processDNA replication

Enzyme and pathway databases

ReactomeiR-HSA-113507 E2F-enabled inhibition of pre-replication complex formation
R-HSA-176187 Activation of ATR in response to replication stress
R-HSA-68616 Assembly of the ORC complex at the origin of replication
R-HSA-68689 CDC6 association with the ORC:origin complex
R-HSA-68827 CDT1 association with the CDC6:ORC:origin complex
R-HSA-68867 Assembly of the pre-replicative complex
R-HSA-68949 Orc1 removal from chromatin
R-HSA-68962 Activation of the pre-replicative complex

Names & Taxonomyi

Protein namesi
Recommended name:
Origin recognition complex subunit 6
Gene namesi
Name:ORC6
Synonyms:ORC6L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000091651.8
HGNCiHGNC:17151 ORC6
MIMi607213 gene
neXtProtiNX_Q9Y5N6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Meier-Gorlin syndrome 3 (MGORS3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613803
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065487232Y → S in MGORS3. 1 PublicationCorresponds to variant dbSNP:rs387906969EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi129Q → A: Abolished DNA binding. 1 Publication1
Mutagenesisi137R → A: Abolished DNA binding. 1 Publication1
Mutagenesisi168K → A: Abolished DNA binding. 1 Publication1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi23594
MalaCardsiORC6
MIMi613803 phenotype
OpenTargetsiENSG00000091651
Orphaneti2554 Ear-patella-short stature syndrome
PharmGKBiPA32813

Polymorphism and mutation databases

BioMutaiORC6
DMDMi8928274

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001270971 – 252Origin recognition complex subunit 6Add BLAST252

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei195PhosphothreonineCombined sources1
Cross-linki210Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei229PhosphothreonineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9Y5N6
MaxQBiQ9Y5N6
PaxDbiQ9Y5N6
PeptideAtlasiQ9Y5N6
PRIDEiQ9Y5N6
ProteomicsDBi86456

PTM databases

iPTMnetiQ9Y5N6
PhosphoSitePlusiQ9Y5N6

Expressioni

Gene expression databases

BgeeiENSG00000091651
CleanExiHS_ORC6L
ExpressionAtlasiQ9Y5N6 baseline and differential
GenevisibleiQ9Y5N6 HS

Organism-specific databases

HPAiCAB016330
HPA072587

Interactioni

Subunit structurei

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).By similarity

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi117129, 33 interactors
ComplexPortaliCPX-1880 Nuclear origin of replication recognition complex
CORUMiQ9Y5N6
DIPiDIP-29692N
IntActiQ9Y5N6, 14 interactors
STRINGi9606.ENSP00000219097

Structurei

Secondary structure

1252
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi98 – 105Combined sources8
Helixi108 – 110Combined sources3
Helixi111 – 122Combined sources12
Helixi127 – 132Combined sources6
Helixi138 – 151Combined sources14
Helixi158 – 163Combined sources6
Helixi169 – 183Combined sources15

3D structure databases

ProteinModelPortaliQ9Y5N6
SMRiQ9Y5N6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ORC6 family.Curated

Phylogenomic databases

eggNOGiKOG4557 Eukaryota
ENOG4111GUY LUCA
GeneTreeiENSGT00390000007370
HOGENOMiHOG000065679
HOVERGENiHBG007876
InParanoidiQ9Y5N6
KOiK02608
OMAiRMFEKLL
OrthoDBiEOG091G0OLA
PhylomeDBiQ9Y5N6
TreeFamiTF101096

Family and domain databases

InterProiView protein in InterPro
IPR008721 ORC6
IPR020529 ORC6_met/pln
PANTHERiPTHR13394 PTHR13394, 1 hit
PfamiView protein in Pfam
PF05460 ORC6, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD315657 Origin_recog_cplx_su6-like, 1 hit

Sequencei

Sequence statusi: Complete.

Q9Y5N6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGSELIGRLA PRLGLAEPDM LRKAEEYLRL SRVKCVGLSA RTTETSSAVM
60 70 80 90 100
CLDLAASWMK CPLDRAYLIK LSGLNKETYQ SCLKSFECLL GLNSNIGIRD
110 120 130 140 150
LAVQFSCIEA VNMASKILKS YESSLPQTQQ VDLDLSRPLF TSAALLSACK
160 170 180 190 200
ILKLKVDKNK MVATSGVKKA IFDRLCKQLE KIGQQVDREP GDVATPPRKR
210 220 230 240 250
KKIVVEAPAK EMEKVEEMPH KPQKDEDLTQ DYEEWKRKIL ENAASAQKAT

AE
Length:252
Mass (Da):28,107
Last modified:November 1, 1999 - v1
Checksum:i78840387605F45FE
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02928332R → W. Corresponds to variant dbSNP:rs3218744Ensembl.1
Natural variantiVAR_029284138P → Q. Corresponds to variant dbSNP:rs3218745EnsemblClinVar.1
Natural variantiVAR_065487232Y → S in MGORS3. 1 PublicationCorresponds to variant dbSNP:rs387906969EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF139658 mRNA Translation: AAD32666.1
AK024019 mRNA Translation: BAG51251.1
CH471092 Genomic DNA Translation: EAW82685.1
BC039032 mRNA Translation: AAH39032.1
BC063565 mRNA Translation: AAH63565.1
CCDSiCCDS10722.1
RefSeqiNP_055136.1, NM_014321.3
UniGeneiHs.49760

Genome annotation databases

EnsembliENST00000219097; ENSP00000219097; ENSG00000091651
GeneIDi23594
KEGGihsa:23594
UCSCiuc002eeh.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiORC6_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5N6
Secondary accession number(s): B3KN89
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1999
Last modified: June 20, 2018
This is version 149 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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