ORC1 (origin recognition complex subunit 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
SNPs SNP information provided by dbSNP.
9
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
157
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601902 8487 ENSG00000085840
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
PF01426 BAH 45 → 169 BAH domain Domain
PF00004 AAA 530 → 675 ATPase family associated with various cellular activities (AAA) Domain
PF17872 AAA_lid_10 669 → 738 AAA lid domain Domain
PF09079 Cdc6_C 778 → 857 CDC6, C terminal winged helix domain Domain
Sequence 
MAHYPTRLKTRKTYSWVGRPLLDRKLHYQTYREMCVKTEGCSTEIHIQIGQFVLIEGDDD
ENPYVAKLLELFEDDSDPPPKKRARVQWFVRFCEVPACKRHLLGRKPGAQEIFWYDYPAC
DSNINAETIIGLVRVIPLAPKDVVPTNLKNEKTLFVKLSWNEKKFRPLSSELFAELNKPQ
ESAAKCQKPVRAKSKSAESPSWTPAEHVAKRIESRHSASKSRQTPTHPLTPRARKRLELG
NLGNPQMSQQTSCASLDSPGRIKRKVAFSEITSPSKRSQPDKLQTLSPALKAPEKTRETG
LSYTEDDKKASPEHRIILRTRIAASKTIDIREERTLTPISGGQRSSVVPSVILKPENIKK
RDAKEAKAQNEATSTPHRIRRKSSVLTMNRIRQQLRFLGNSKSDQEEKEILPAAEISDSS
SDEEEASTPPLPRRAPRTVSRNLRSSLKSSLHTLTKVPKKSLKPRTPRCAAPQIRSRSLA
AQEPASVLEEARLRLHVSAVPESLPCREQEFQDIYNFVESKLLDHTGGCMYISGVPGTGK
TATVHEVIRCLQQAAQANDVPPFQYIEVNGMKLTEPHQVYVQILQKLTGQKATANHAAEL
LAKQFCTRGSPQETTVLLVDELDLLWTHKQDIMYNLFDWPTHKEARLVVLAIANTMDLPE
RIMMNRVSSRLGLTRMCFQPYTYSQLQQILRSRLKHLKAFEDDAIQLVARKVAALSGDAR
RCLDICRRATEICEFSQQKPDSPGLVTIAHSMEAVDEMFSSSYITAIKNSSVLEQSFLRA
ILAEFRRSGLEEATFQQIYSQHVALCRMEGLPYPTMSETMAVCSHLGSCRLLLVEPSRND
LLLRVRLNVSQDDVLYALKDE
Sequence length 861
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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)
Show/Hide Unknown Diseases (7)
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.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, HEPATOCELLULAR — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DWARFISM — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EAR, PATELLA, SHORT STATURE SYNDROME — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations