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Q9Y5N6 (ORC6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 113. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Origin recognition complex subunit 6
Gene names
Name:ORC6
Synonyms:ORC6L
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length252 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.10

Subunit 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.

Subcellular location

Nucleus.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12

Sequence similarities

Belongs to the ORC6 family.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

ORC3Q9UBD54EBI-374840,EBI-374916

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 252252Origin recognition complex subunit 6
PRO_0000127097

Amino acid modifications

Modified residue1951Phosphothreonine Ref.5 Ref.9
Modified residue2291Phosphothreonine Ref.7

Natural variations

Natural variant321R → W.
Corresponds to variant rs3218744 [ dbSNP | Ensembl ].
VAR_029283
Natural variant1381P → Q.
Corresponds to variant rs3218745 [ dbSNP | Ensembl ].
VAR_029284
Natural variant2321Y → S in MGORS3. Ref.12
VAR_065487

Experimental info

Mutagenesis1291Q → A: Abolished DNA binding. Ref.11
Mutagenesis1371R → A: Abolished DNA binding. Ref.11
Mutagenesis1681K → A: Abolished DNA binding. Ref.11

Secondary structure

.............. 252
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q9Y5N6 [UniParc].

Last modified November 1, 1999. Version 1.
Checksum: 78840387605F45FE

FASTA25228,107
        10         20         30         40         50         60 
MGSELIGRLA PRLGLAEPDM LRKAEEYLRL SRVKCVGLSA RTTETSSAVM CLDLAASWMK 

        70         80         90        100        110        120 
CPLDRAYLIK LSGLNKETYQ SCLKSFECLL GLNSNIGIRD LAVQFSCIEA VNMASKILKS 

       130        140        150        160        170        180 
YESSLPQTQQ VDLDLSRPLF TSAALLSACK ILKLKVDKNK MVATSGVKKA IFDRLCKQLE 

       190        200        210        220        230        240 
KIGQQVDREP GDVATPPRKR KKIVVEAPAK EMEKVEEMPH KPQKDEDLTQ DYEEWKRKIL 

       250 
ENAASAQKAT AE 

« Hide

References

« Hide 'large scale' references
[1]"cDNA cloning of a homolog for Saccharomyces cerevisiae ORC6 from Homo sapiens."
Dean F.B., O'Donnell M.
Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Cervix and Testis.
[5]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-195, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[6]"ATP-dependent assembly of the human origin recognition complex."
Siddiqui K., Stillman B.
J. Biol. Chem. 282:32370-32383(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: RECONSTITUTION OF THE ORC COMPLEX, DISASSEMBLY OF THE ORC COMPLEX.
[7]"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.
Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-229, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Embryonic kidney.
[8]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-195, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"Leucine-rich repeat and WD repeat-containing protein 1 is recruited to pericentric heterochromatin by trimethylated lysine 9 of histone H3 and maintains heterochromatin silencing."
Chan K.M., Zhang Z.
J. Biol. Chem. 287:15024-15033(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: LACK OF BINDING TO HISTONE H3 AND H4 TRIMETHYLATION MARKS, FUNCTION.
[11]"Structural analysis of human Orc6 protein reveals a homology with transcription factor TFIIB."
Liu S., Balasov M., Wang H., Wu L., Chesnokov I.N., Liu Y.
Proc. Natl. Acad. Sci. U.S.A. 108:7373-7378(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 94-187, MUTAGENESIS OF GLN-129; ARG-137 AND LYS-168, DNA-BINDING.
[12]"Mutations in the pre-replication complex cause Meier-Gorlin syndrome."
Bicknell L.S., Bongers E.M., Leitch A., Brown S., Schoots J., Harley M.E., Aftimos S., Al-Aama J.Y., Bober M., Brown P.A., van Bokhoven H., Dean J., Edrees A.Y., Feingold M., Fryer A., Hoefsloot L.H., Kau N., Knoers N.V. expand/collapse author list , Mackenzie J., Opitz J.M., Sarda P., Ross A., Temple I.K., Toutain A., Wise C.A., Wright M., Jackson A.P.
Nat. Genet. 43:356-359(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MGORS3 SER-232.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_055136.1. NM_014321.3.
UniGeneHs.49760.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3M03X-ray2.50A/B/C94-187[»]
ProteinModelPortalQ9Y5N6.
SMRQ9Y5N6. Positions 94-187.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117129. 22 interactions.
DIPDIP-29692N.
IntActQ9Y5N6. 8 interactions.
MINTMINT-1202310.
STRING9606.ENSP00000219097.

PTM databases

PhosphoSiteQ9Y5N6.

Polymorphism databases

DMDM8928274.

Proteomic databases

PaxDbQ9Y5N6.
PRIDEQ9Y5N6.

Protocols and materials databases

DNASU23594.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000219097; ENSP00000219097; ENSG00000091651.
GeneID23594.
KEGGhsa:23594.
UCSCuc002eeg.1. human.

Organism-specific databases

CTD23594.
GeneCardsGC16P046724.
HGNCHGNC:17151. ORC6.
HPACAB016330.
MIM607213. gene.
613803. phenotype.
neXtProtNX_Q9Y5N6.
Orphanet2554. Ear-patella-short stature syndrome.
PharmGKBPA32813.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG285438.
HOGENOMHOG000065679.
HOVERGENHBG007876.
InParanoidQ9Y5N6.
KOK02608.
OMAASCMKCP.
PhylomeDBQ9Y5N6.
TreeFamTF101096.

Enzyme and pathway databases

ReactomeREACT_115566. Cell Cycle.
REACT_21300. Mitotic M-M/G1 phases.
REACT_383. DNA Replication.

Gene expression databases

ArrayExpressQ9Y5N6.
BgeeQ9Y5N6.
CleanExHS_ORC6L.
GenevestigatorQ9Y5N6.

Family and domain databases

InterProIPR008721. ORC6.
IPR020529. ORC6_met/pln.
[Graphical view]
PfamPF05460. ORC6. 1 hit.
[Graphical view]
ProDomPD315657. Origin_recog_cplx_su6-like. 1 hit.
[Graphical view] [Entries sharing at least one domain]
ProtoNetSearch...

Other

ChiTaRSORC6. human.
GeneWikiORC6.
ORC6L.
GenomeRNAi23594.
NextBio46248.
PROQ9Y5N6.
SOURCESearch...

Entry information

Entry nameORC6_HUMAN
AccessionPrimary (citable) accession number: Q9Y5N6
Secondary accession number(s): B3KN89
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1999
Last modified: April 16, 2014
This is version 113 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM