CC2D1A
entrez
54862
canonical
uniprot
Q6P1N0
canonical
ensembl
ENSG00000132024
resolver
ensembl
ENSG00000288293
resolver
ensp
ENSP00000313601
resolver
ensp
ENSP00000467526
resolver
ensp
ENSP00000506358
resolver
ensp
ENSP00000540983
resolver
ensp
ENSP00000540984
resolver
ensp
ENSP00000540985
resolver
ensp
ENSP00000540986
resolver
ensp
ENSP00000540987
resolver
ensp
ENSP00000540989
resolver
genesymbol
CC2D1A
resolver
genesymbol_syn
AKI1
resolver
genesymbol_syn
LGD2
resolver
hgnc
HGNC:30237
resolver
uniprot
Q7Z435
resolver
uniprot
Q86XV0
resolver
uniprot
Q8NF89
resolver
uniprot
Q9H603
resolver
uniprot
Q9NXI1
resolver
uniprot_entry
C2D1A_HUMAN
resolver
uniprot_sec
Q7Z435
resolver
uniprot_sec
Q86XV0
resolver
uniprot_sec
Q8NF89
resolver
uniprot_sec
Q9H603
resolver
uniprot_sec
Q9NXI1
resolver
amino_acid_sequence
MHKRKGPPGPPGRGAAAARQLGLLVDLSPDGLMIPEDGANDEELEAEFLALVGGQPPALEKLKGKGPLPMEAIEKMASLCMRDPDEDEEEGTDEDDLEADDDLLAELNEVLGEEQKASETPPPVAQPKPEAPHPGLETTLQERLALYQTAIESARQAGDSAKMRRYDRGLKTLENLLASIRKGNAIDEADIPPPVAIGKGPASTPTYSPAPTQPAPRIASAPEPRVTLEGPSATAPASSPGLAKPQMPPGPCSPGPLAQLQSRQRDYKLAALHAKQQGDTTAAARHFRVAKSFDAVLEALSRGEPVDLSCLPPPPDQLPPDPPSPPSQPPTPATAPSTTEVPPPPRTLLEALEQRMERYQVAAAQAKSKGDQRKARMHERIVKQYQDAIRAHKAGRAVDVAELPVPPGFPPIQGLEATKPTQQSLVGVLETAMKLANQDEGPEDEEDEVPKKQNSPVAPTAQPKAPPSRTPQSGSAPTAKAPPKATSTRAQQQLAFLEGRKKQLLQAALRAKQKNDVEGAKMHLRQAKGLEPMLEASRNGLPVDITKVPPAPVNKDDFALVQRPGPGLSQEAARRYGELTKLIRQQHEMCLNHSNQFTQLGNITETTKFEKLAEDCKRSMDILKQAFVRGLPTPTARFEQRTFSVIKIFPDLSSNDMLLFIVKGINLPTPPGLSPGDLDVFVRFDFPYPNVEEAQKDKTSVIKNTDSPEFKEQFKLCINRSHRGFRRAIQTKGIKFEVVHKGGLFKTDRVLGTAQLKLDALEIACEVREILEVLDGRRPTGGRLEVMVRIREPLTAQQLETTTERWLVIDPVPAAVPTQVAGPKGKAPPVPAPARESGNRSARPLHSLSVLAFDQERLERKILALRQARRPVPPEVAQQYQDIMQRSQWQRAQLEQGGVGIRREYAAQLERQLQFYTEAARRLGNDGSRDAAKEALYRRNLVESELQRLRR
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 3 (MRT3) [MIM:608443]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:16033914}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of synapses (By similarity). Plays distinct roles depending on its localization. When cytoplasmic, acts as a scaffold protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1A when nuclear. In the centrosome, regulates spindle pole localization of the cohesin subunit SCC1/RAD21, thereby mediating centriole cohesion during mitosis. {ECO:0000250, ECO:0000269|PubMed:20171170}.
uniprot
proteins
mass_dalton
104062
uniprot
proteins
post_translational_modification
PTM: Phosphorylation on Ser-208 by CDK1 promotes spindle pole localization and association with SCC1/RAD21. {ECO:0000269|PubMed:20171170}.
uniprot
proteins
protein_family
CC2D1 family
uniprot
proteins
pubmed
12761501
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
16033914
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20171170
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
sequence_length
951
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16033914}. Nucleus {ECO:0000250|UniProtKB:Q66HA5}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000303|PubMed:20171170}.
uniprot
proteins