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Protein

Origin recognition complex subunit 1

Gene

ORC1

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 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.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei93Histone H4K20me2By similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi534 – 541ATPSequence analysis8

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • chromatin binding Source: InterPro
  • DNA binding Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

DNA replication

Keywords - Ligandi

ATP-binding, DNA-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000085840-MONOMER.
ReactomeiR-HSA-113507. E2F-enabled inhibition of pre-replication complex formation.
R-HSA-113510. E2F mediated regulation of DNA replication.
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-69205. G1/S-Specific Transcription.
R-HSA-69298. Association of licensing factors with the pre-replicative complex.
R-HSA-69300. Removal of licensing factors from origins.
SIGNORiQ13415.

Names & Taxonomyi

Protein namesi
Recommended name:
Origin recognition complex subunit 1
Alternative name(s):
Replication control protein 1
Gene namesi
Name:ORC1
Synonyms:ORC1L, PARC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:8487. ORC1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • cytosol Source: Reactome
  • nuclear origin of replication recognition complex Source: UniProtKB
  • nucleolus Source: HPA
  • nucleoplasm Source: Reactome
  • nucleus Source: HPA
  • origin recognition complex Source: UniProtKB
  • plasma membrane Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Meier-Gorlin syndrome 1 (MGORS1)3 Publications
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:224690
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06548189F → S in MGORS1. 1 PublicationCorresponds to variant rs387906827dbSNPEnsembl.1
Natural variantiVAR_065482105R → Q in MGORS1. 3 PublicationsCorresponds to variant rs143141689dbSNPEnsembl.1
Natural variantiVAR_065483127E → G in MGORS1. 1 PublicationCorresponds to variant rs387906826dbSNPEnsembl.1
Natural variantiVAR_065484666R → W in MGORS1. 1 PublicationCorresponds to variant rs201253919dbSNPEnsembl.1
Natural variantiVAR_065485720R → Q in MGORS1. 1 PublicationCorresponds to variant rs387906828dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi4998.
MalaCardsiORC1.
MIMi224690. phenotype.
OpenTargetsiENSG00000085840.
Orphaneti2554. Ear-patella-short stature syndrome.
PharmGKBiPA32808.

Polymorphism and mutation databases

BioMutaiORC1.
DMDMi76803807.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001270671 – 861Origin recognition complex subunit 1Add BLAST861

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei199PhosphoserineCombined sources1
Modified residuei203PhosphothreonineCombined sources1
Modified residuei252PhosphoserineBy similarity1
Modified residuei255PhosphoserineBy similarity1
Modified residuei273PhosphoserineCombined sources1
Modified residuei287PhosphoserineCombined sources1
Modified residuei326N6-acetyllysineCombined sources1
Modified residuei337PhosphothreonineCombined sources1
Modified residuei340PhosphoserineCombined sources1
Modified residuei417PhosphoserineCombined sources1
Modified residuei420PhosphoserineCombined sources1
Modified residuei478PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylated during mitosis.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ13415.
MaxQBiQ13415.
PaxDbiQ13415.
PeptideAtlasiQ13415.
PRIDEiQ13415.

PTM databases

iPTMnetiQ13415.
PhosphoSitePlusiQ13415.

Expressioni

Developmental stagei

Expression is cell-cycle regulated, it starts to accumulate in mid-G1 phase, reaches a peak at the G1/S boundary, and decreases to a basal level in S phase (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000085840.
CleanExiHS_ORC1L.
GenevisibleiQ13415. HS.

Organism-specific databases

HPAiHPA027450.

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 CDC6 and KAT7/HBO1. Interacts with LRWD1 predominantly during the G1 phase and with less affinity during mitosis, when phosphorylated.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
EBNA1P032112EBI-374847,EBI-996522From a different organism.
ORC2Q134168EBI-374847,EBI-374957
ORC3Q9UBD512EBI-374847,EBI-374916
ORC5O439136EBI-374847,EBI-374928
SKP2Q133092EBI-374847,EBI-456291
TERF2Q155542EBI-374847,EBI-706637

Protein-protein interaction databases

BioGridi111040. 52 interactors.
DIPiDIP-29688N.
IntActiQ13415. 46 interactors.
MINTiMINT-1201992.
STRINGi9606.ENSP00000360621.

Structurei

3D structure databases

ProteinModelPortaliQ13415.
SMRiQ13415.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini45 – 171BAHPROSITE-ProRule annotationAdd BLAST127

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni501 – 861Necessary and sufficient for ORC complex assemblyAdd BLAST361

Domaini

The BAH domain mediates binding to dimethylated histone H4 'Lys-20' (H4K20me2), which is enriched at replication origins.By similarity

Sequence similaritiesi

Belongs to the ORC1 family.Curated
Contains 1 BAH domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1514. Eukaryota.
COG1474. LUCA.
GeneTreeiENSGT00530000063498.
HOGENOMiHOG000231132.
HOVERGENiHBG007873.
InParanoidiQ13415.
KOiK02603.
OMAiCTRGSPQ.
OrthoDBiEOG091G0BA1.
PhylomeDBiQ13415.
TreeFamiTF313743.

Family and domain databases

CDDicd08768. Cdc6_C. 1 hit.
Gene3Di1.10.10.10. 1 hit.
3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR003959. ATPase_AAA_core.
IPR001025. BAH_dom.
IPR015163. Cdc6_C.
IPR027417. P-loop_NTPase.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00004. AAA. 1 hit.
PF01426. BAH. 1 hit.
PF09079. Cdc6_C. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
SM00439. BAH. 1 hit.
SM01074. Cdc6_C. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS51038. BAH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q13415-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAHYPTRLKT RKTYSWVGRP LLDRKLHYQT YREMCVKTEG CSTEIHIQIG
60 70 80 90 100
QFVLIEGDDD ENPYVAKLLE LFEDDSDPPP KKRARVQWFV RFCEVPACKR
110 120 130 140 150
HLLGRKPGAQ EIFWYDYPAC DSNINAETII GLVRVIPLAP KDVVPTNLKN
160 170 180 190 200
EKTLFVKLSW NEKKFRPLSS ELFAELNKPQ ESAAKCQKPV RAKSKSAESP
210 220 230 240 250
SWTPAEHVAK RIESRHSASK SRQTPTHPLT PRARKRLELG NLGNPQMSQQ
260 270 280 290 300
TSCASLDSPG RIKRKVAFSE ITSPSKRSQP DKLQTLSPAL KAPEKTRETG
310 320 330 340 350
LSYTEDDKKA SPEHRIILRT RIAASKTIDI REERTLTPIS GGQRSSVVPS
360 370 380 390 400
VILKPENIKK RDAKEAKAQN EATSTPHRIR RKSSVLTMNR IRQQLRFLGN
410 420 430 440 450
SKSDQEEKEI LPAAEISDSS SDEEEASTPP LPRRAPRTVS RNLRSSLKSS
460 470 480 490 500
LHTLTKVPKK SLKPRTPRCA APQIRSRSLA AQEPASVLEE ARLRLHVSAV
510 520 530 540 550
PESLPCREQE FQDIYNFVES KLLDHTGGCM YISGVPGTGK TATVHEVIRC
560 570 580 590 600
LQQAAQANDV PPFQYIEVNG MKLTEPHQVY VQILQKLTGQ KATANHAAEL
610 620 630 640 650
LAKQFCTRGS PQETTVLLVD ELDLLWTHKQ DIMYNLFDWP THKEARLVVL
660 670 680 690 700
AIANTMDLPE RIMMNRVSSR LGLTRMCFQP YTYSQLQQIL RSRLKHLKAF
710 720 730 740 750
EDDAIQLVAR KVAALSGDAR RCLDICRRAT EICEFSQQKP DSPGLVTIAH
760 770 780 790 800
SMEAVDEMFS SSYITAIKNS SVLEQSFLRA ILAEFRRSGL EEATFQQIYS
810 820 830 840 850
QHVALCRMEG LPYPTMSETM AVCSHLGSCR LLLVEPSRND LLLRVRLNVS
860
QDDVLYALKD E
Length:861
Mass (Da):97,350
Last modified:September 27, 2005 - v2
Checksum:i5C594553F7F808E2
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti582Q → H in AAC50325 (PubMed:7502077).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01450719R → S.Corresponds to variant rs3087473dbSNPEnsembl.1
Natural variantiVAR_06548189F → S in MGORS1. 1 PublicationCorresponds to variant rs387906827dbSNPEnsembl.1
Natural variantiVAR_065482105R → Q in MGORS1. 3 PublicationsCorresponds to variant rs143141689dbSNPEnsembl.1
Natural variantiVAR_065483127E → G in MGORS1. 1 PublicationCorresponds to variant rs387906826dbSNPEnsembl.1
Natural variantiVAR_014508180Q → H.Corresponds to variant rs3087482dbSNPEnsembl.1
Natural variantiVAR_014509190V → M.Corresponds to variant rs3087477dbSNPEnsembl.1
Natural variantiVAR_014510372A → V.Corresponds to variant rs3087476dbSNPEnsembl.1
Natural variantiVAR_014511441R → M.Corresponds to variant rs3087472dbSNPEnsembl.1
Natural variantiVAR_014512456K → E.Corresponds to variant rs3087470dbSNPEnsembl.1
Natural variantiVAR_014513466T → M.Corresponds to variant rs3087481dbSNPEnsembl.1
Natural variantiVAR_014514469C → Y.Corresponds to variant rs3087483dbSNPEnsembl.1
Natural variantiVAR_065484666R → W in MGORS1. 1 PublicationCorresponds to variant rs201253919dbSNPEnsembl.1
Natural variantiVAR_065485720R → Q in MGORS1. 1 PublicationCorresponds to variant rs387906828dbSNPEnsembl.1
Natural variantiVAR_050426816M → T.Corresponds to variant rs34521609dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U40152 mRNA. Translation: AAC50325.1.
U43416 mRNA. Translation: AAA86260.1.
AL513218 Genomic DNA. Translation: CAI12288.1.
CH471059 Genomic DNA. Translation: EAX06783.1.
CH471059 Genomic DNA. Translation: EAX06784.1.
CCDSiCCDS566.1.
PIRiG02329.
RefSeqiNP_001177747.1. NM_001190818.1.
NP_001177748.1. NM_001190819.1.
NP_004144.2. NM_004153.3.
UniGeneiHs.17908.

Genome annotation databases

EnsembliENST00000371566; ENSP00000360621; ENSG00000085840.
ENST00000371568; ENSP00000360623; ENSG00000085840.
GeneIDi4998.
KEGGihsa:4998.
UCSCiuc001ctt.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U40152 mRNA. Translation: AAC50325.1.
U43416 mRNA. Translation: AAA86260.1.
AL513218 Genomic DNA. Translation: CAI12288.1.
CH471059 Genomic DNA. Translation: EAX06783.1.
CH471059 Genomic DNA. Translation: EAX06784.1.
CCDSiCCDS566.1.
PIRiG02329.
RefSeqiNP_001177747.1. NM_001190818.1.
NP_001177748.1. NM_001190819.1.
NP_004144.2. NM_004153.3.
UniGeneiHs.17908.

3D structure databases

ProteinModelPortaliQ13415.
SMRiQ13415.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111040. 52 interactors.
DIPiDIP-29688N.
IntActiQ13415. 46 interactors.
MINTiMINT-1201992.
STRINGi9606.ENSP00000360621.

PTM databases

iPTMnetiQ13415.
PhosphoSitePlusiQ13415.

Polymorphism and mutation databases

BioMutaiORC1.
DMDMi76803807.

Proteomic databases

EPDiQ13415.
MaxQBiQ13415.
PaxDbiQ13415.
PeptideAtlasiQ13415.
PRIDEiQ13415.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371566; ENSP00000360621; ENSG00000085840.
ENST00000371568; ENSP00000360623; ENSG00000085840.
GeneIDi4998.
KEGGihsa:4998.
UCSCiuc001ctt.4. human.

Organism-specific databases

CTDi4998.
DisGeNETi4998.
GeneCardsiORC1.
HGNCiHGNC:8487. ORC1.
HPAiHPA027450.
MalaCardsiORC1.
MIMi224690. phenotype.
601902. gene.
neXtProtiNX_Q13415.
OpenTargetsiENSG00000085840.
Orphaneti2554. Ear-patella-short stature syndrome.
PharmGKBiPA32808.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1514. Eukaryota.
COG1474. LUCA.
GeneTreeiENSGT00530000063498.
HOGENOMiHOG000231132.
HOVERGENiHBG007873.
InParanoidiQ13415.
KOiK02603.
OMAiCTRGSPQ.
OrthoDBiEOG091G0BA1.
PhylomeDBiQ13415.
TreeFamiTF313743.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000085840-MONOMER.
ReactomeiR-HSA-113507. E2F-enabled inhibition of pre-replication complex formation.
R-HSA-113510. E2F mediated regulation of DNA replication.
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-69205. G1/S-Specific Transcription.
R-HSA-69298. Association of licensing factors with the pre-replicative complex.
R-HSA-69300. Removal of licensing factors from origins.
SIGNORiQ13415.

Miscellaneous databases

GeneWikiiORC1.
GenomeRNAii4998.
PROiQ13415.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000085840.
CleanExiHS_ORC1L.
GenevisibleiQ13415. HS.

Family and domain databases

CDDicd08768. Cdc6_C. 1 hit.
Gene3Di1.10.10.10. 1 hit.
3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR003959. ATPase_AAA_core.
IPR001025. BAH_dom.
IPR015163. Cdc6_C.
IPR027417. P-loop_NTPase.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00004. AAA. 1 hit.
PF01426. BAH. 1 hit.
PF09079. Cdc6_C. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
SM00439. BAH. 1 hit.
SM01074. Cdc6_C. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS51038. BAH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiORC1_HUMAN
AccessioniPrimary (citable) accession number: Q13415
Secondary accession number(s): D3DQ34, Q13471, Q5T0F5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: September 27, 2005
Last modified: November 30, 2016
This is version 151 of the entry and version 2 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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. SIMILARITY comments
    Index of protein domains and families

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.