Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	4998
Gene name	Origin recognition complex subunit 1
Gene symbol	ORC1
Synonyms (NCBI Gene)	HSORC1ORC1LPARC1
Chromosome	1
Chromosome location	1p32.3
Summary	The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves

9 Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs143141689	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs201253919	G>A	Pathogenic	Missense variant, coding sequence variant
rs387906826	T>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs387906827	A>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs387906828	C>T	Pathogenic	Coding sequence variant, missense variant
rs869312957	C>A,G	Likely-pathogenic	Splice donor variant
rs869312969	C>A	Likely-pathogenic	Splice acceptor variant
rs1378348220	T>C	Pathogenic	Splice acceptor variant
rs1557573504	AC>T	Pathogenic	Coding sequence variant, frameshift variant

157 Show/Hide all (157)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023064	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT024795	hsa-miR-215-5p	Microarray	19074876
MIRT026765	hsa-miR-192-5p	Microarray	19074876
MIRT044432	hsa-miR-320a	CLASH	23622248
MIRT040662	hsa-miR-92b-3p	CLASH	23622248
MIRT541936	hsa-miR-3667-5p	HITS-CLIP	23313552
MIRT541937	hsa-miR-10a-5p	HITS-CLIP	23313552
MIRT541935	hsa-miR-10b-5p	HITS-CLIP	23313552
MIRT541934	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT541933	hsa-miR-451b	HITS-CLIP	23313552
MIRT692953	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT541931	hsa-miR-6501-3p	HITS-CLIP	23313552
MIRT541932	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT541930	hsa-miR-339-5p	HITS-CLIP	23313552
MIRT541929	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT541928	hsa-miR-4421	HITS-CLIP	23313552
MIRT541927	hsa-miR-5699-3p	HITS-CLIP	23313552
MIRT692952	hsa-miR-371b-5p	HITS-CLIP	23313552
MIRT692951	hsa-miR-373-5p	HITS-CLIP	23313552
MIRT692950	hsa-miR-616-5p	HITS-CLIP	23313552
MIRT692949	hsa-miR-371a-5p	HITS-CLIP	23313552
MIRT692948	hsa-miR-372-5p	HITS-CLIP	23313552
MIRT541926	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT541925	hsa-miR-4486	HITS-CLIP	23313552
MIRT541924	hsa-miR-4725-5p	HITS-CLIP	23313552
MIRT541923	hsa-miR-4696	HITS-CLIP	23313552
MIRT541922	hsa-miR-661	HITS-CLIP	23313552
MIRT541921	hsa-miR-1273a	HITS-CLIP	23313552
MIRT541920	hsa-miR-4649-5p	HITS-CLIP	23313552
MIRT541918	hsa-miR-6729-5p	HITS-CLIP	23313552
MIRT541919	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT541917	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT541936	hsa-miR-3667-5p	PAR-CLIP	21572407
MIRT541937	hsa-miR-10a-5p	PAR-CLIP	21572407
MIRT541935	hsa-miR-10b-5p	PAR-CLIP	21572407
MIRT541934	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT541933	hsa-miR-451b	PAR-CLIP	21572407
MIRT541931	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT541932	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT541930	hsa-miR-339-5p	PAR-CLIP	21572407
MIRT541929	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT541928	hsa-miR-4421	PAR-CLIP	21572407
MIRT541927	hsa-miR-5699-3p	PAR-CLIP	21572407
MIRT541926	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT541925	hsa-miR-4486	PAR-CLIP	21572407
MIRT541924	hsa-miR-4725-5p	PAR-CLIP	21572407
MIRT541923	hsa-miR-4696	PAR-CLIP	21572407
MIRT541922	hsa-miR-661	PAR-CLIP	21572407
MIRT541921	hsa-miR-1273a	PAR-CLIP	21572407
MIRT541920	hsa-miR-4649-5p	PAR-CLIP	21572407
MIRT541918	hsa-miR-6729-5p	PAR-CLIP	21572407
MIRT541919	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT541917	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT541916	hsa-miR-7703	PAR-CLIP	21572407
MIRT541936	hsa-miR-3667-5p	HITS-CLIP	23313552
MIRT541937	hsa-miR-10a-5p	HITS-CLIP	23313552
MIRT541935	hsa-miR-10b-5p	HITS-CLIP	23313552
MIRT541934	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT541933	hsa-miR-451b	HITS-CLIP	23313552
MIRT692953	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT541931	hsa-miR-6501-3p	HITS-CLIP	23313552
MIRT541932	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT541930	hsa-miR-339-5p	HITS-CLIP	23313552
MIRT541929	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT541928	hsa-miR-4421	HITS-CLIP	23313552
MIRT541927	hsa-miR-5699-3p	HITS-CLIP	23313552
MIRT692952	hsa-miR-371b-5p	HITS-CLIP	23313552
MIRT692951	hsa-miR-373-5p	HITS-CLIP	23313552
MIRT692950	hsa-miR-616-5p	HITS-CLIP	23313552
MIRT692949	hsa-miR-371a-5p	HITS-CLIP	23313552
MIRT692948	hsa-miR-372-5p	HITS-CLIP	23313552
MIRT541926	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT541925	hsa-miR-4486	HITS-CLIP	23313552
MIRT541924	hsa-miR-4725-5p	HITS-CLIP	23313552
MIRT541923	hsa-miR-4696	HITS-CLIP	23313552
MIRT541922	hsa-miR-661	HITS-CLIP	23313552
MIRT541921	hsa-miR-1273a	HITS-CLIP	23313552
MIRT541920	hsa-miR-4649-5p	HITS-CLIP	23313552
MIRT541918	hsa-miR-6729-5p	HITS-CLIP	23313552
MIRT541919	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT541917	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT541936	hsa-miR-3667-5p	PAR-CLIP	21572407
MIRT541937	hsa-miR-10a-5p	PAR-CLIP	21572407
MIRT541935	hsa-miR-10b-5p	PAR-CLIP	21572407
MIRT541934	hsa-miR-508-5p	PAR-CLIP	21572407
MIRT541933	hsa-miR-451b	PAR-CLIP	21572407
MIRT541931	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT541932	hsa-miR-6849-3p	PAR-CLIP	21572407
MIRT541930	hsa-miR-339-5p	PAR-CLIP	21572407
MIRT541929	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT541928	hsa-miR-4421	PAR-CLIP	21572407
MIRT541927	hsa-miR-5699-3p	PAR-CLIP	21572407
MIRT541926	hsa-miR-766-3p	PAR-CLIP	21572407
MIRT541925	hsa-miR-4486	PAR-CLIP	21572407
MIRT541924	hsa-miR-4725-5p	PAR-CLIP	21572407
MIRT541923	hsa-miR-4696	PAR-CLIP	21572407
MIRT541922	hsa-miR-661	PAR-CLIP	21572407
MIRT541921	hsa-miR-1273a	PAR-CLIP	21572407
MIRT541920	hsa-miR-4649-5p	PAR-CLIP	21572407
MIRT541918	hsa-miR-6729-5p	PAR-CLIP	21572407
MIRT541919	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT541917	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT541916	hsa-miR-7703	PAR-CLIP	21572407
MIRT1205266	hsa-miR-1253	CLIP-seq
MIRT1205267	hsa-miR-3922-5p	CLIP-seq
MIRT1205268	hsa-miR-1273	CLIP-seq
MIRT1205269	hsa-miR-4712-3p	CLIP-seq
MIRT1205270	hsa-miR-4793-3p	CLIP-seq
MIRT1205271	hsa-miR-587	CLIP-seq
MIRT1205272	hsa-miR-766	CLIP-seq
MIRT2059197	hsa-miR-10a	CLIP-seq
MIRT2059198	hsa-miR-10b	CLIP-seq
MIRT1205266	hsa-miR-1253	CLIP-seq
MIRT1205268	hsa-miR-1273	CLIP-seq
MIRT1205267	hsa-miR-3922-5p	CLIP-seq
MIRT1205269	hsa-miR-4712-3p	CLIP-seq
MIRT2059199	hsa-miR-504	CLIP-seq
MIRT1205272	hsa-miR-766	CLIP-seq
MIRT2287304	hsa-miR-1227	CLIP-seq
MIRT1205268	hsa-miR-1273	CLIP-seq
MIRT2287305	hsa-miR-4252	CLIP-seq
MIRT1205270	hsa-miR-4793-3p	CLIP-seq
MIRT1205272	hsa-miR-766	CLIP-seq
MIRT2059197	hsa-miR-10a	CLIP-seq
MIRT2059198	hsa-miR-10b	CLIP-seq
MIRT2455717	hsa-miR-371-5p	CLIP-seq
MIRT2059199	hsa-miR-504	CLIP-seq
MIRT2059197	hsa-miR-10a	CLIP-seq
MIRT2059198	hsa-miR-10b	CLIP-seq
MIRT2287304	hsa-miR-1227	CLIP-seq
MIRT1205268	hsa-miR-1273	CLIP-seq
MIRT2585501	hsa-miR-1283	CLIP-seq
MIRT2585502	hsa-miR-146b-3p	CLIP-seq
MIRT2455717	hsa-miR-371-5p	CLIP-seq
MIRT2287305	hsa-miR-4252	CLIP-seq
MIRT2585503	hsa-miR-4684-5p	CLIP-seq
MIRT2585504	hsa-miR-4786-3p	CLIP-seq
MIRT1205270	hsa-miR-4793-3p	CLIP-seq
MIRT2059199	hsa-miR-504	CLIP-seq
MIRT2585505	hsa-miR-548c-3p	CLIP-seq
MIRT2585506	hsa-miR-593	CLIP-seq
MIRT1205272	hsa-miR-766	CLIP-seq
MIRT2059197	hsa-miR-10a	CLIP-seq
MIRT2059198	hsa-miR-10b	CLIP-seq
MIRT2287304	hsa-miR-1227	CLIP-seq
MIRT1205268	hsa-miR-1273	CLIP-seq
MIRT2585501	hsa-miR-1283	CLIP-seq
MIRT2585502	hsa-miR-146b-3p	CLIP-seq
MIRT2455717	hsa-miR-371-5p	CLIP-seq
MIRT2287305	hsa-miR-4252	CLIP-seq
MIRT2585503	hsa-miR-4684-5p	CLIP-seq
MIRT2585504	hsa-miR-4786-3p	CLIP-seq
MIRT1205270	hsa-miR-4793-3p	CLIP-seq
MIRT2059199	hsa-miR-504	CLIP-seq
MIRT2585505	hsa-miR-548c-3p	CLIP-seq
MIRT2585506	hsa-miR-593	CLIP-seq
MIRT1205272	hsa-miR-766	CLIP-seq

26 Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000781	Component	Chromosome, telomeric region	IDA	24270157
GO:0000808	Component	Origin recognition complex	IDA	17716973
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	7502077
GO:0003682	Function	Chromatin binding	IEA
GO:0003688	Function	DNA replication origin binding	IBA
GO:0005515	Function	Protein binding	IPI	11931757, 15232106, 16549788, 16799465, 17716973, 18946490, 22398447, 26496610, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	32808929
GO:0005634	Component	Nucleus	TAS	7502077
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005664	Component	Nuclear origin of replication recognition complex	IBA
GO:0005664	Component	Nuclear origin of replication recognition complex	IDA	20932478, 21029866
GO:0005664	Component	Nuclear origin of replication recognition complex	IPI	16549788
GO:0005829	Component	Cytosol	TAS
GO:0006260	Process	DNA replication	IEA
GO:0006270	Process	DNA replication initiation	IBA
GO:0006270	Process	DNA replication initiation	IDA	16549788
GO:0006270	Process	DNA replication initiation	TAS	7502077
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0033314	Process	Mitotic DNA replication checkpoint signaling	IBA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
601902	8487	ENSG00000085840

Q13415

Protein name

Origin recognition complex subunit 1 (Replication control protein 1)

Protein function

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

PDB

5UJ7 , 5UJM , 6P3W , 7CTF , 7CTG , 7JPO , 7JPP , 7JPR , 7JPS , 8RWV , 8S0C , 8S0D , 8S0E , 8S0F

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00004	AAA	530 → 675	ATPase family associated with various cellular activities (AAA)	Domain
PF01426	BAH	45 → 169	BAH domain	Domain
PF09079	Cdc6_C	778 → 857	CDC6, C terminal winged helix domain	Domain
PF17872	AAA_lid_10	669 → 738	AAA lid domain	Domain

Sequence

MAHYPTRLKTRKTYSWVGRPLLDRKLHYQTYREMCVKTEGCSTEIHIQIGQFVLIEGDDD
ENPYVAKLLELFEDDSDPPPKKRARVQWFVRFCEVPACKRHLLGRKPGAQEIFWYDYPAC
DSNINAETIIGLVRVIPLAPKDVVPTNLKNEKTLFVKLSWNEKKFRPLSSELFAELNKPQ
ESAAKCQKPVRAKSKSAESPSWTPAEHVAKRIESRHSASKSRQTPTHPLTPRARKRLELG
NLGNPQMSQQTSCASLDSPGRIKRKVAFSEITSPSKRSQPDKLQTLSPALKAPEKTRETG
LSYTEDDKKASPEHRIILRTRIAASKTIDIREERTLTPISGGQRSSVVPSVILKPENIKK
RDAKEAKAQNEATSTPHRIRRKSSVLTMNRIRQQLRFLGNSKSDQEEKEILPAAEISDSS
SDEEEASTPPLPRRAPRTVSRNLRSSLKSSLHTLTKVPKKSLKPRTPRCAAPQIRSRSLA
AQEPASVLEEARLRLHVSAVPESLPCREQEFQDIYNFVESKLLDHTGGCMYISGVPGTGK
TATVHEVIRCLQQAAQANDVPPFQYIEVNGMKLTEPHQVYVQILQKLTGQKATANHAAEL
LAKQFCTRGSPQETTVLLVDELDLLWTHKQDIMYNLFDWPTHKEARLVVLAIANTMDLPE
RIMMNRVSSRLGLTRMCFQPYTYSQLQQILRSRLKHLKAFEDDAIQLVARKVAALSGDAR
RCLDICRRATEICEFSQQKPDSPGLVTIAHSMEAVDEMFSSSYITAIKNSSVLEQSFLRA
ILAEFRRSGLEEATFQQIYSQHVALCRMEGLPYPTMSETMAVCSHLGSCRLLLVEPSRND
LLLRVRLNVSQDDVLYALKDE

Sequence length

861

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Cell cycle	Activation of ATR in response to replication stress
	Assembly of the ORC complex at the origin of replication
	CDC6 association with the ORC:origin complex
	CDT1 association with the CDC6:ORC:origin complex
	Assembly of the pre-replicative complex
	Orc1 removal from chromatin
	Activation of the pre-replicative complex
	G1/S-Specific Transcription

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Meier-Gorlin syndrome	Likely pathogenic; Pathogenic	rs143141689	RCV000302017	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meier-Gorlin syndrome 1	Pathogenic; Likely pathogenic	rs1647490038, rs2147923128, rs373671398, rs2147941262, rs2524163534, rs1162770123, rs367611068, rs387906826, rs143141689, rs387906828, rs1557573504, rs1378348220, rs778980446	RCV001336638 RCV001527357 RCV001527375 RCV001784771 RCV003147896 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ORC1-related disorder	Likely pathogenic; Pathogenic	rs143141689	RCV004745166	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (7)
CARCINOMA, HEPATOCELLULAR	—	CTD	28284560	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DWARFISM	—	CTD, Disgenet CTD, Disgenet	21358633	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EAR, PATELLA, SHORT STATURE SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EAR-PATELLA-SHORT STATURE SYNDROME	—	Orphanet	21358632, 23516378	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY	—	CTD, Disgenet CTD, Disgenet	21358633	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ORC4	2	["Ear, patella, short stature syndrome","Meier-gorlin syndrome"]	8	["Cell cycle","Activation of ATR in response to replication stress","Orc1 removal from chromatin","Activation of the pre-replicative complex","CDT1 association with the CDC6:ORC:origin complex","CDC6 association with the ORC:origin complex","Assembly of the ORC complex at the origin of replication","Assembly of the pre-replicative complex"]	7	["Disgenet (Ear, patella, short stature syndrome)","Orphanet (Ear, patella, short stature syndrome)","CTD (Meier-gorlin syndrome)","GWAS catalog (Meier-gorlin syndrome)","Disgenet (Meier-gorlin syndrome)","ClinVar (Meier-gorlin syndrome)","HPO (Meier-gorlin syndrome)"]
ORC6	2	["Ear, patella, short stature syndrome","Meier-gorlin syndrome"]	8	["Cell cycle","Activation of ATR in response to replication stress","Orc1 removal from chromatin","Activation of the pre-replicative complex","CDT1 association with the CDC6:ORC:origin complex","CDC6 association with the ORC:origin complex","Assembly of the ORC complex at the origin of replication","Assembly of the pre-replicative complex"]	7	["Disgenet (Ear, patella, short stature syndrome)","Orphanet (Ear, patella, short stature syndrome)","CTD (Meier-gorlin syndrome)","GWAS catalog (Meier-gorlin syndrome)","Disgenet (Meier-gorlin syndrome)","ClinVar (Meier-gorlin syndrome)","HPO (Meier-gorlin syndrome)"]
CDC6	2	["Ear, patella, short stature syndrome","Meier-gorlin syndrome"]	8	["Cell cycle","Activation of ATR in response to replication stress","Orc1 removal from chromatin","Activation of the pre-replicative complex","CDT1 association with the CDC6:ORC:origin complex","G1\/S-Specific Transcription","CDC6 association with the ORC:origin complex","Assembly of the pre-replicative complex"]	7	["Disgenet (Ear, patella, short stature syndrome)","Orphanet (Ear, patella, short stature syndrome)","CTD (Meier-gorlin syndrome)","GWAS catalog (Meier-gorlin syndrome)","Disgenet (Meier-gorlin syndrome)","ClinVar (Meier-gorlin syndrome)","HPO (Meier-gorlin syndrome)"]
CDT1	2	["Ear, patella, short stature syndrome","Meier-gorlin syndrome"]	6	["Cell cycle","Orc1 removal from chromatin","Activation of the pre-replicative complex","CDT1 association with the CDC6:ORC:origin complex","G1\/S-Specific Transcription","Assembly of the pre-replicative complex"]	7	["Disgenet (Ear, patella, short stature syndrome)","Orphanet (Ear, patella, short stature syndrome)","CTD (Meier-gorlin syndrome)","GWAS catalog (Meier-gorlin syndrome)","Disgenet (Meier-gorlin syndrome)","ClinVar (Meier-gorlin syndrome)","HPO (Meier-gorlin syndrome)"]
DONSON	4	["Dwarfism","Ear, patella, short stature syndrome","Meier-gorlin syndrome","Microcephaly"]	0	[]	6	["CTD (Dwarfism)","Disgenet (Dwarfism)","Disgenet (Ear, patella, short stature syndrome)","Disgenet (Meier-gorlin syndrome)","CTD (Microcephaly)","Disgenet (Microcephaly)"]

ORC1 (origin recognition complex subunit 1)

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