CDC45
entrez
8318
canonical
uniprot
O75419
canonical
ensembl
ENSG00000093009
resolver
ensp
ENSP00000263201
resolver
ensp
ENSP00000384978
resolver
ensp
ENSP00000385240
resolver
ensp
ENSP00000405726
resolver
ensp
ENSP00000499976
resolver
ensp
ENSP00000602503
resolver
genesymbol
CDC45
resolver
genesymbol_syn
CDC45L
resolver
genesymbol_syn
CDC45L2
resolver
hgnc
HGNC:1739
resolver
uniprot
B4DDB4
resolver
uniprot
B4DDU3
resolver
uniprot
E9PDH7
resolver
uniprot
O60856
resolver
uniprot
Q20WK8
resolver
uniprot
Q6UW54
resolver
uniprot
Q9UP68
resolver
uniprot_entry
CDC45_HUMAN
resolver
uniprot_sec
B4DDB4
resolver
uniprot_sec
B4DDU3
resolver
uniprot_sec
E9PDH7
resolver
uniprot_sec
O60856
resolver
uniprot_sec
Q20WK8
resolver
uniprot_sec
Q6UW54
resolver
uniprot_sec
Q9UP68
resolver
amino_acid_sequence
MFVSDFRKEFYEVVQSQRVLLFVASDVDALCACKILQALFQCDHVQYTLVPVSGWQELETAFLEHKEQFHYFILINCGANVDLLDILQPDEDTIFFVCDTHRPVNVVNVYNDTQIKLLIKQDDDLEVPAYEDIFRDEEEDEEHSGNDSDGSEPSEKRTRLEEEIVEQTMRRRQRREWEARRRDILFDYEQYEYHGTSSAMVMFELAWMLSKDLNDMLWWAIVGLTDQWVQDKITQMKYVTDVGVLQRHVSRHNHRNEDEENTLSVDCTRISFEYDLRLVLYQHWSLHDSLCNTSYTAARFKLWSVHGQKRLQEFLADMGLPLKQVKQKFQAMDISLKENLREMIEESANKFGMKDMRVQTFSIHFGFKHKFLASDVVFATMSLMESPEKDGSGTDHFIQALDSLSRSNLDKLYHGLELAKKQLRATQQTIASCLCTNLVISQGPFLYCSLMEGTPDVMLFSRPASLSLLSKHLLKSFVCSTKNRRCKLLPLVMAAPLSMEHGTVTVVGIPPETDSSDRKNFFGRAFEKAAESTSSRMLHNHFDLSVIELKAEDRSKFLDALISLLS
uniprot
proteins
disease_involvement
DISEASE: Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063]: A form of Meier-Gorlin syndrome, 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. MGORS7 inheritance is autosomal recessive. {ECO:0000269|PubMed:27374770}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for initiation of chromosomal DNA replication. Core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built. {ECO:0000269|PubMed:32453425, ECO:0000269|PubMed:34694004, ECO:0000269|PubMed:34700328, ECO:0000269|PubMed:35585232}.
uniprot
proteins
mass_dalton
65569
uniprot
proteins
protein_family
CDC45 family
uniprot
proteins
pubmed
10051334
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
25933514
uniprot
proteins
pubmed
27374770
uniprot
proteins
pubmed
32453425
uniprot
proteins
pubmed
34694004
uniprot
proteins
pubmed
34700328
uniprot
proteins
pubmed
35585232
uniprot
proteins
pubmed
9660782
uniprot
proteins
pubmed
9724329
uniprot
proteins
pubmed
9755170
uniprot
proteins
sequence_length
566
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:35585232}. Chromosome {ECO:0000305|PubMed:35585232}. Note=Associates with chromatin. {ECO:0000305|PubMed:35585232}.
uniprot
proteins