MCIDAS
entrez
345643
canonical
uniprot
D6RGH6
canonical
ensembl
ENSG00000234602
resolver
ensp
ENSP00000426359
resolver
enst
ENST00000513312
resolver
genesymbol
MCIDAS
resolver
genesymbol_syn
IDAS
resolver
genesymbol_syn
MCI
resolver
genesymbol_syn
MCIN
resolver
hgnc
HGNC:40050
resolver
uniprot
C9JGY3
resolver
uniprot
D6R920
resolver
uniprot
F8KGQ8
resolver
uniprot_entry
MCIN_HUMAN
resolver
uniprot_sec
C9JGY3
resolver
uniprot_sec
D6R920
resolver
uniprot_sec
F8KGQ8
resolver
amino_acid_sequence
MQACGGGAAGRRAFDSICPNRMLALPGRALLCKPGKPERKFAPPRKFFPGCTGGSPVSVYEDPPDAEPTALPALTTIDLQDLADCSSLLGSDAPPGGDLAASQNHSHQTEADFNLQDFRDTVDDLISDSSSMMSPTLASGDFPFSPCDISPFGPCLSPPLDPRALQSPPLRPPDVPPPEQYWKEVADQNQRALGDALVENNQLHVTLTQKQEEIASLKERNVQLKELASRTRHLASVLDKLMITQSRDCGAAAEPFLLKAKAKRSLEELVSAAGQDCAEVDAILREISERCDEALQSRDPKRPRLLPEPANTDTRPGNLHGAFRGLRTDCSRSALNLSHSELEEGGSFSTRIRSHSTIRTLAFPQGNAFTIRTANGGYKFRWVPS
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 42 (CILD42) [MIM:618695]: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Other more variable features may include infertility and mild hydrocephalus. Patients with this form of the disorder do not have situs abnormalities. CILD42 inheritance is autosomal recessive. {ECO:0000269|PubMed:25048963}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription regulator specifically required for multiciliate cell differentiation (PubMed:25048963). Acts in a multiprotein complex containing E2F4 and E2F5 that binds and activates genes required for centriole biogenesis. Required for the deuterosome-mediated acentriolar pathway (PubMed:25048963). Plays a role in mitotic cell cycle progression by promoting cell cycle exit. Modulates GMNN activity by reducing its affinity for CDT1 (PubMed:21543332, PubMed:24064211). {ECO:0000250|UniProtKB:Q08B36, ECO:0000269|PubMed:21543332, ECO:0000269|PubMed:24064211, ECO:0000269|PubMed:25048963}.
uniprot
proteins
mass_dalton
41720
uniprot
proteins
protein_family
Geminin family
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
21543332
uniprot
proteins
pubmed
24064211
uniprot
proteins
pubmed
25048963
uniprot
proteins
sequence_length
385
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21543332, ECO:0000269|PubMed:25048963}. Note=Excluded from the nucleolus. {ECO:0000269|PubMed:21543332}.
uniprot
proteins