ORC6
entrez
23594
canonical
uniprot
Q9Y5N6
canonical
ensembl
ENSG00000091651
resolver
ensp
ENSP00000219097
resolver
ensp
ENSP00000746707
resolver
enst
ENST00000219097
resolver
genesymbol
ORC6
resolver
genesymbol_syn
ORC6L
resolver
hgnc
HGNC:17151
resolver
uniprot
B3KN89
resolver
uniprot_entry
ORC6_HUMAN
resolver
uniprot_sec
B3KN89
resolver
amino_acid_sequence
MGSELIGRLAPRLGLAEPDMLRKAEEYLRLSRVKCVGLSARTTETSSAVMCLDLAASWMKCPLDRAYLIKLSGLNKETYQSCLKSFECLLGLNSNIGIRDLAVQFSCIEAVNMASKILKSYESSLPQTQQVDLDLSRPLFTSAALLSACKILKLKVDKNKMVATSGVKKAIFDRLCKQLEKIGQQVDREPGDVATPPRKRKKIVVEAPAKEMEKVEEMPHKPQKDEDLTQDYEEWKRKILENAASAQKATAE
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:21358632}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000269|PubMed:22427655}.
uniprot
proteins
mass_dalton
28107
uniprot
proteins
mutagenesis
MUTAGEN 129; /note="Q->A: Abolished DNA binding."; /evidence="ECO:0000269|PubMed:21502537"; MUTAGEN 137; /note="R->A: Abolished DNA binding."; /evidence="ECO:0000269|PubMed:21502537"; MUTAGEN 168; /note="K->A: Abolished DNA binding."; /evidence="ECO:0000269|PubMed:21502537
uniprot
proteins
protein_family
ORC6 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
17716973
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21358632
uniprot
proteins
pubmed
21502537
uniprot
proteins
pubmed
22427655
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28112733
uniprot
proteins
sequence_length
252
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins