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Protein

Origin recognition complex subunit 1

Gene

ORC1

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 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

Keywordsi

Molecular functionDNA-binding
Biological processDNA replication
LigandATP-binding, Nucleotide-binding

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-539107 Activation of E2F1 target genes at G1/S
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
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

EuPathDBiHostDB:ENSG00000085840.12
HGNCiHGNC:8487 ORC1
MIMi601902 gene
neXtProtiNX_Q13415

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 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 dbSNP:rs387906827EnsemblClinVar.1
Natural variantiVAR_065482105R → Q in MGORS1. 3 PublicationsCorresponds to variant dbSNP:rs143141689EnsemblClinVar.1
Natural variantiVAR_065483127E → G in MGORS1. 1 PublicationCorresponds to variant dbSNP:rs387906826EnsemblClinVar.1
Natural variantiVAR_065484666R → W in MGORS1. 1 PublicationCorresponds to variant dbSNP:rs201253919EnsemblClinVar.1
Natural variantiVAR_065485720R → Q in MGORS1. 1 PublicationCorresponds to variant dbSNP:rs387906828EnsemblClinVar.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
ProteomicsDBi59394

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

Show more details

Protein-protein interaction databases

BioGridi111040, 53 interactors
ComplexPortaliCPX-1880 Nuclear origin of replication recognition complex
CORUMiQ13415
DIPiDIP-29688N
IntActiQ13415, 49 interactors
MINTiQ13415
STRINGi9606.ENSP00000360621

Structurei

Secondary structure

1861
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi494 – 497Combined sources4
Helixi509 – 523Combined sources15
Beta strandi528 – 534Combined sources7
Helixi540 – 556Combined sources17
Beta strandi565 – 570Combined sources6
Helixi578 – 586Combined sources9
Helixi594 – 604Combined sources11
Beta strandi616 – 620Combined sources5
Helixi622 – 625Combined sources4
Helixi631 – 638Combined sources8
Helixi639 – 641Combined sources3
Beta strandi642 – 644Combined sources3
Beta strandi648 – 652Combined sources5
Helixi658 – 660Combined sources3
Beta strandi675 – 678Combined sources4
Helixi683 – 692Combined sources10
Helixi706 – 712Combined sources7
Helixi720 – 734Combined sources15
Helixi748 – 756Combined sources9
Helixi762 – 769Combined sources8
Helixi772 – 788Combined sources17
Helixi795 – 808Combined sources14
Helixi816 – 828Combined sources13
Beta strandi831 – 834Combined sources4
Helixi837 – 842Combined sources6
Beta strandi844 – 849Combined sources6
Helixi851 – 859Combined sources9

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

Phylogenomic databases

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

Family and domain databases

CDDicd08768 Cdc6_C, 1 hit
InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR003959 ATPase_AAA_core
IPR001025 BAH_dom
IPR015163 Cdc6_C
IPR020793 ORC1
IPR027417 P-loop_NTPase
PANTHERiPTHR10763:SF23 PTHR10763:SF23, 1 hit
PfamiView protein in Pfam
PF00004 AAA, 1 hit
PF01426 BAH, 1 hit
PF09079 Cdc6_C, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SM00439 BAH, 1 hit
SM01074 Cdc6_C, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51038 BAH, 1 hit

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 dbSNP:rs3087473EnsemblClinVar.1
Natural variantiVAR_06548189F → S in MGORS1. 1 PublicationCorresponds to variant dbSNP:rs387906827EnsemblClinVar.1
Natural variantiVAR_065482105R → Q in MGORS1. 3 PublicationsCorresponds to variant dbSNP:rs143141689EnsemblClinVar.1
Natural variantiVAR_065483127E → G in MGORS1. 1 PublicationCorresponds to variant dbSNP:rs387906826EnsemblClinVar.1
Natural variantiVAR_014508180Q → H. Corresponds to variant dbSNP:rs3087482EnsemblClinVar.1
Natural variantiVAR_014509190V → M. Corresponds to variant dbSNP:rs3087477EnsemblClinVar.1
Natural variantiVAR_014510372A → V. Corresponds to variant dbSNP:rs3087476EnsemblClinVar.1
Natural variantiVAR_014511441R → M. Corresponds to variant dbSNP:rs3087472Ensembl.1
Natural variantiVAR_014512456K → E. Corresponds to variant dbSNP:rs3087470Ensembl.1
Natural variantiVAR_014513466T → M. Corresponds to variant dbSNP:rs3087481EnsemblClinVar.1
Natural variantiVAR_014514469C → Y. Corresponds to variant dbSNP:rs3087483EnsemblClinVar.1
Natural variantiVAR_065484666R → W in MGORS1. 1 PublicationCorresponds to variant dbSNP:rs201253919EnsemblClinVar.1
Natural variantiVAR_065485720R → Q in MGORS1. 1 PublicationCorresponds to variant dbSNP:rs387906828EnsemblClinVar.1
Natural variantiVAR_050426816M → T. Corresponds to variant dbSNP:rs34521609EnsemblClinVar.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 No translation available.
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

Similar proteinsi

Entry informationi

Entry nameiORC1_HUMAN
AccessioniPrimary (citable) accession number: Q13415
Secondary accession number(s): D3DQ34, Q13471, Q5T0F5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: September 27, 2005
Last modified: June 20, 2018
This is version 163 of the entry and version 2 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 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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