CDCA7
entrez
83879
canonical
uniprot
Q9BWT1
canonical
ensembl
ENSG00000144354
resolver
ensp
ENSP00000272789
resolver
ensp
ENSP00000306968
resolver
ensp
ENSP00000684755
resolver
genesymbol
CDCA7
resolver
genesymbol_syn
JPO1
resolver
hgnc
HGNC:14628
resolver
uniprot
B4DLP8
resolver
uniprot
B4DV66
resolver
uniprot
Q53EW5
resolver
uniprot
Q580W9
resolver
uniprot
Q658K4
resolver
uniprot
Q658N4
resolver
uniprot
Q8NBY9
resolver
uniprot
Q96BV8
resolver
uniprot
Q96SP5
resolver
uniprot_entry
CDCA7_HUMAN
resolver
uniprot_sec
B4DLP8
resolver
uniprot_sec
B4DV66
resolver
uniprot_sec
Q53EW5
resolver
uniprot_sec
Q580W9
resolver
uniprot_sec
Q658K4
resolver
uniprot_sec
Q658N4
resolver
uniprot_sec
Q8NBY9
resolver
uniprot_sec
Q96BV8
resolver
uniprot_sec
Q96SP5
resolver
amino_acid_sequence
MDARRVPQKDLRVKKNLKKFRYVKLISMETSSSSDDSCDSFASDNFANTRLQSVREGCRTRSQCRHSGPLRVAMKFPARSTRGATNKKAESRQPSENSVTDSNSDSEDESGMNFLEKRALNIKQNKAMLAKLMSELESFPGSFRGRHPLPGSDSQSRRPRRRTFPGVASRRNPERRARPLTRSRSRILGSLDALPMEEEEEEDKYMLVRKRKTVDGYMNEDDLPRSRRSRSSVTLPHIIRPVEEITEEELENVCSNSREKIYNRSLGSTCHQCRQKTIDTKTNCRNPDCWGVRGQFCGPCLRNRYGEEVRDALLDPNWHCPPCRGICNCSFCRQRDGRCATGVLVYLAKYHGFGNVHAYLKSLKQEFEMQA
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency-centromeric instability-facial anomalies syndrome 3 (ICF3) [MIM:616910]: A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. {ECO:0000269|PubMed:26216346}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Participates in MYC-mediated cell transformation and apoptosis; induces anchorage-independent growth and clonogenicity in lymphoblastoid cells. Insufficient to induce tumorigenicity when overexpressed but contributes to MYC-mediated tumorigenesis (PubMed:11598121, PubMed:15994934, PubMed:23166294). Also functions as a critical cofactor for the chromatin remodeler HELLS, facilitating its recruitment to specific genomic regions to maintain DNA methylation patterns and heterochromatin integrity. Recognizes hemimethylated CpG within nucleosomes where it recruits HELLS to remodel chromatin and facilitate access of de novo DNA methyltransferases to heterochromatic regions, enabling proper establishment of DNA methylation patterns (PubMed:30307408, PubMed:39178260). May play a role as transcriptional regulator (PubMed:16580749). {ECO:0000269|PubMed:11598121, ECO:0000269|PubMed:15994934, ECO:0000269|PubMed:16580749, ECO:0000269|PubMed:23166294, ECO:0000269|PubMed:30307408, ECO:0000269|PubMed:39178260}.
uniprot
proteins
mass_dalton
42573
uniprot
proteins
mutagenesis
MUTAGEN 158; /note="R->A: Does not affect phosphorylation or interaction with YHWAE and YHWAZ."; /evidence="ECO:0000269|PubMed:23166294"; MUTAGEN 159; /note="P->A: Does not affect phosphorylation or interaction with YHWAE and YHWAZ."; /evidence="ECO:0000269|PubMed:23166294"; MUTAGEN 160; /note="R->A: Abolishes phosphorylation and interaction with YHWAE and YHWAZ."; /evidence="ECO:0000269|PubMed:23166294"; MUTAGEN 160; /note="R->E: Predominantly cytoplasmic."; /evidence="ECO:0000269|PubMed:23166294"; MUTAGEN 161; /note="R->A: Increased phosphorylation, binding to YHWAE and YHWAZ, and cytoplasmic expression."; /evidence="ECO:0000269|PubMed:23166294"; MUTAGEN 161; /note="R->E: Predominantly cytoplasmic."; /evidence="ECO:0000269|PubMed:23166294"; MUTAGEN 162; /note="R->A: Does not affect phosphorylation or interaction with YHWAE and YHWAZ."; /evidence="ECO:0000269|PubMed:23166294"; MUTAGEN 162; /note="R->E: Predominantly cytoplasmic."; /evidence="ECO:0000269|PubMed:23166294"; MUTAGEN 163; /note="T->A: Abolishes phosphorylation, interaction with YHWAE and YHWAZ, and cytoplasmic localization."; /evidence="ECO:0000269|PubMed:23166294"; MUTAGEN 164; /note="F->A: Abolishes phosphorylation and interaction with YHWAE and YHWAZ."; /evidence="ECO:0000269|PubMed:23166294"; MUTAGEN 165; /note="P->A: Abolishes phosphorylation, interaction with YHWAE and YHWAZ, and cytoplasmic localization."; /evidence="ECO:0000269|PubMed:23166294"; MUTAGEN 171; /note="R->E: Predominantly cytoplasmic. Completely cytoplasmic with no nuclear expression; when associated with E-176."; /evidence="ECO:0000269|PubMed:23166294"; MUTAGEN 176; /note="R->E: Predominantly cytoplasmic. Completely cytoplasmic with no nuclear expression; when associated with E-171."; /evidence="ECO:0000269|PubMed:23166294"; MUTAGEN 182; /note="R->E: No effect on subcellular location."; /evidence="ECO:0000269|PubMed:23166294"; MUTAGEN 184; /note="R->E: No effect on subcellular location."; /evidence="ECO:0000269|PubMed:23166294
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Thr-163 promotes interaction with YWHAE and YWHAZ, dissociation from MYC and sequestration in the cytoplasm. In vitro, phosphorylated at Thr-163 by AKT. {ECO:0000269|PubMed:23166294}.
uniprot
proteins
pubmed
11598121
uniprot
proteins
pubmed
12188893
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15994934
uniprot
proteins
pubmed
16580749
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23166294
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26216346
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
30307408
uniprot
proteins
pubmed
39178260
uniprot
proteins
sequence_length
371
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11598121, ECO:0000269|PubMed:23166294}. Cytoplasm {ECO:0000269|PubMed:23166294}. Chromosome {ECO:0000269|PubMed:30307408}. Note=Predominantly nuclear with some expression also seen in the cytoplasm. Predominantly cytoplasmic when phosphorylated at Thr-163. {ECO:0000269|PubMed:23166294}.
uniprot
proteins