CDC6
entrez
990
canonical
uniprot
Q99741
canonical
ensembl
ENSG00000094804
resolver
ensp
ENSP00000209728
resolver
ensp
ENSP00000497345
resolver
ensp
ENSP00000606826
resolver
ensp
ENSP00000606828
resolver
enst
ENST00000209728
resolver
enst
ENST00000649662
resolver
enst
ENST00000936769
resolver
genesymbol
CDC6
resolver
genesymbol_syn
CDC18L
resolver
hgnc
HGNC:1744
resolver
uniprot
Q8TB30
resolver
uniprot_entry
CDC6_HUMAN
resolver
uniprot_sec
Q8TB30
resolver
amino_acid_sequence
MPQTRSQAQATISFPKRKLSRALNKAKNSSDAKLEPTNVQTVTCSPRVKALPLSPRKRLGDDNLCNTPHLPPCSPPKQGKKENGPPHSHTLKGRRLVFDNQLTIKSPSKRELAKVHQNKILSSVRKSQEITTNSEQRCPLKKESACVRLFKQEGTCYQQAKLVLNTAVPDRLPAREREMDVIRNFLREHICGKKAGSLYLSGAPGTGKTACLSRILQDLKKELKGFKTIMLNCMSLRTAQAVFPAIAQEICQEEVSRPAGKDMMRKLEKHMTAEKGPMIVLVLDEMDQLDSKGQDVLYTLFEWPWLSNSHLVLIGIANTLDLTDRILPRLQAREKCKPQLLNFPPYTRNQIVTILQDRLNQVSRDQVLDNAAVQFCARKVSAVSGDVRKALDVCRRAIEIVESDVKSQTILKPLSECKSPSEPLIPKRVGLIHISQVISEVDGNRMTLSQEGAQDSFPLQQKILVCSLMLLIRQLKIKEVTLGKLYEAYSKVCRKQQVAAVDQSECLSLSGLLEARGILGLKRNKETRLTKVFFKIEEKEIEHALKDKALIGNILATGLP
uniprot
proteins
disease_involvement
DISEASE: Meier-Gorlin syndrome 5 (MGORS5) [MIM:613805]: 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: Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated.
uniprot
proteins
mass_dalton
62720
uniprot
proteins
mutagenesis
MUTAGEN 54; /note="S->A: Does not change protein stability after CHX addition during mitosis; when associated with A-74 and A-106."; /evidence="ECO:0000269|PubMed:26818844"; MUTAGEN 54; /note="S->D: Does not change protein stability after CHX addition during mitosis; when associated with D-74 and D-106."; /evidence="ECO:0000269|PubMed:26818844"; MUTAGEN 74; /note="S->A: Does not change protein stability after CHX addition during mitosis; when associated with A-54 and A-106."; /evidence="ECO:0000269|PubMed:26818844"; MUTAGEN 74; /note="S->D: Does not change protein stability after CHX addition during mitosis; when associated with D-54 and D-106."; /evidence="ECO:0000269|PubMed:26818844"; MUTAGEN 93..100; /note="Missing: Disrupts the interaction with CCNF. Does not disrupt the interaction with CDH1. Increases protein stability."; /evidence="ECO:0000269|PubMed:26818844"; MUTAGEN 106; /note="S->A: Does not change protein stability after CHX addition during mitosis; when associated with A-54 and A-74."; /evidence="ECO:0000269|PubMed:26818844"; MUTAGEN 106; /note="S->D: Does not change protein stability after CHX addition during mitosis; when associated with D-54 and D-74."; /evidence="ECO:0000269|PubMed:26818844
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by the SCF(CCNF) E3 ubiquitin-protein ligase complex. {ECO:0000269|PubMed:26818844}.
uniprot
proteins
protein_family
CDC6/cdc18 family
uniprot
proteins
pubmed
14672932
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17567951
uniprot
proteins
pubmed
18320024
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21358632
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23711367
uniprot
proteins
pubmed
25990725
uniprot
proteins
pubmed
26818844
uniprot
proteins
pubmed
8990175
uniprot
proteins
pubmed
9566895
uniprot
proteins
sequence_length
560
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26818844, ECO:0000269|PubMed:9566895}. Cytoplasm {ECO:0000269|PubMed:9566895}. Note=The protein is nuclear in G1 and cytoplasmic in S-phase cells (PubMed:9566895). {ECO:0000269|PubMed:9566895}.
uniprot
proteins