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Protein

Origin recognition complex subunit 6

Gene

ORC6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.
R-HSA-69300. Removal of licensing factors from origins.

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

HGNCiHGNC:17151. ORC6.

Subcellular locationi

GO - Cellular componenti

  • fibrillar center Source: HPA
  • membrane Source: UniProtKB
  • nuclear origin of replication recognition complex Source: GO_Central
  • nucleoplasm Source: Reactome
  • nucleus Source: HPA
  • origin recognition complex Source: UniProtKB

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:rs387906969Ensembl.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
Modified residuei229PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y5N6.
MaxQBiQ9Y5N6.
PaxDbiQ9Y5N6.
PeptideAtlasiQ9Y5N6.
PRIDEiQ9Y5N6.

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. 31 interactors.
DIPiDIP-29692N.
IntActiQ9Y5N6. 10 interactors.
MINTiMINT-1202310.
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

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3M03X-ray2.50A/B/C94-187[»]
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

Gene3Di1.10.472.10. 2 hits.
InterProiView protein in InterPro
IPR013763. Cyclin-like.
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:rs3218745Ensembl.1
Natural variantiVAR_065487232Y → S in MGORS3. 1 PublicationCorresponds to variant dbSNP:rs387906969Ensembl.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

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

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 7, 2017
This is version 143 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