GTF3C3
entrez
9330
canonical
uniprot
Q9Y5Q9
canonical
ensembl
ENSG00000119041
resolver
ensp
ENSP00000263956
resolver
ensp
ENSP00000386465
resolver
genesymbol
GTF3C3
resolver
hgnc
HGNC:4666
resolver
uniprot
Q4ZG48
resolver
uniprot
Q86XJ8
resolver
uniprot
Q8WX84
resolver
uniprot
Q96B44
resolver
uniprot
Q9H5I8
resolver
uniprot
Q9NT97
resolver
uniprot_entry
TF3C3_HUMAN
resolver
uniprot_sec
Q4ZG48
resolver
uniprot_sec
Q86XJ8
resolver
uniprot_sec
Q8WX84
resolver
uniprot_sec
Q96B44
resolver
uniprot_sec
Q9H5I8
resolver
uniprot_sec
Q9NT97
resolver
amino_acid_sequence
MSGFSPELIDYLEGKISFEEFERRREERKTREKKSLQEKGKLSAEENPDDSEVPSSSGINSTKSQDKDVNEGETSDGVRKSVHKVFASMLGENEDDEEEEEEEEEEEEEEETPEQPTAGDVFVLEMVLNRETKKMMKEKRPRSKLPRALRGLMGEANIRFARGEREEAILMCMEIIRQAPLAYEPFSTLAMIYEDQGDMEKSLQFELIAAHLNPSDTEEWVRLAEMSLEQDNIKQAIFCYTKALKYEPTNVRYLWERSSLYEQMGDHKMAMDGYRRILNLLSPSDGERFMQLARDMAKSYYEANDVTSAINIIDEAFSKHQGLVSMEDVNIAAELYISNKQYDKALEIITDFSGIVLEKKTSEEGTSEENKAPENVTCTIPDGVPIDITVKLMVCLVHLNILEPLNPLLTTLVEQNPEDMGDLYLDVAEAFLDVGEYNSALPLLSALVCSERYNLAVVWLRHAECLKALGYMERAAESYGKVVDLAPLHLDARISLSTLQQQLGQPEKALEALEPMYDPDTLAQDANAAQQELKLLLHRSTLLFSQGKMYGYVDTLLTMLAMLLKVAMNRAQVCLISSSKSGERHLYLIKVSRDKISDSNDQESANCDAKAIFAVLTSVLTKDDWWNLLLKAIYSLCDLSRFQEAELLVDSSLEYYSFYDDRQKRKELEYFGLSAAILDKNFRKAYNYIRIMVMENVNKPQLWNIFNQVTMHSQDVRHHRFCLRLMLKNPENHALCVLNGHNAFVSGSFKHALGQYVQAFRTHPDEPLYSFCIGLTFIHMASQKYVLRRHALIVQGFSFLNRYLSLRGPCQESFYNLGRGLHQLGLIHLAIHYYQKALELPPLVVEGIELDQLDLRRDIAYNLSLIYQSSGNTGMAQTLLYTYCSI
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures (NEDFBS) [MIM:621201]: An autosomal recessive neurodevelopmental disorder characterized by developmental delay, intellectual disability, microcephaly, facial dysmorphism, seizures, motor impairments, and brain and cerebellar abnormalities. {ECO:0000269|PubMed:30552426, ECO:0000269|PubMed:39636576, ECO:0000269|PubMed:40040844}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in RNA polymerase III-mediated transcription. Integral, tightly associated component of the DNA-binding TFIIIC2 subcomplex that directly binds tRNA and virus-associated RNA promoters.
uniprot
proteins
mass_dalton
101272
uniprot
proteins
pubmed
10373544
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
30552426
uniprot
proteins
pubmed
39636576
uniprot
proteins
pubmed
40040844
uniprot
proteins
sequence_length
886
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins