TOE1
entrez
114034
canonical
uniprot
Q96GM8
canonical
ensembl
ENSG00000132773
resolver
ensp
ENSP00000361162
resolver
ensp
ENSP00000544203
resolver
ensp
ENSP00000662033
resolver
ensp
ENSP00000726209
resolver
genesymbol
TOE1
resolver
hgnc
HGNC:15954
resolver
uniprot
B4DEM6
resolver
uniprot
B4DP23
resolver
uniprot
Q6IA35
resolver
uniprot
Q8IWN5
resolver
uniprot
Q9H846
resolver
uniprot_entry
B4DP23_HUMAN
resolver
uniprot_entry
TOE1_HUMAN
resolver
uniprot_sec
B4DEM6
resolver
uniprot_sec
Q6IA35
resolver
uniprot_sec
Q8IWN5
resolver
uniprot_sec
Q9H846
resolver
amino_acid_sequence
MAADSDDGAVSAPAASDGGVSKSTTSGEELVVQVPVVDVQSNNFKEMWPSLLLAIKTANFVAVDTELSGLGDRKSLLNQCIEERYKAVCHAARTRSILSLGLACFKRQPDKGEHSYLAQVFNLTLLCMEEYVIEPKSVQFLIQHGFNFNQQYAQGIPYHKGNDKGDESQSQSVRTLFLELIRARRPLVLHNGLIDLVFLYQNFYAHLPESLGTFTADLCEMFPAGIYDTKYAAEFHARFVASYLEYAFRKCERENGKQRAAGSPHLTLEFCNYPSSMRDHIDYRCCLPPATHRPHPTSICDNFSAYGWCPLGPQCPQSHDIDLIIDTDEAAAEDKRRRRRRREKRKRALLNLPGTQTSGEAKDGPPKKQVCGDSIKPEETEQEVAADETRNLPHSKQGNKNDLEMGIKAARPEIADRATSEVPGSQASPNPVPGDGLHRAGFDAFMTGYVMAYVEVSQGPQPCSSGPWLPECHNKVYLSGKAVPLTVAKSQFSRSSKAHNQKMKLTWGSS
uniprot
proteins
disease_involvement
DISEASE: Pontocerebellar hypoplasia 7 (PCH7) [MIM:614969]: A form of pontocerebellar hypoplasia, a group of related disorders characterized by underdevelopment of the pons and the cerebellum. Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size. PCH7 patients manifest delayed psychomotor development, hypotonia, breathing abnormalities, and gonadal abnormalities. {ECO:0000269|PubMed:28092684}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Inhibits cell growth rate and cell cycle. Induces CDKN1A expression as well as TGF-beta expression. Mediates the inhibitory growth effect of EGR1. Involved in the maturation of snRNAs and snRNA 3'-tail processing (PubMed:28092684). {ECO:0000269|PubMed:12562764, ECO:0000269|PubMed:28092684}.
uniprot
proteins
mass_dalton
56548
uniprot
proteins
protein_family
CAF1 family
uniprot
proteins
pubmed
12562764
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28092684
uniprot
proteins
sequence_length
510
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12562764}. Nucleus speckle {ECO:0000269|PubMed:12562764}. Note=Localizes to nuclear speckles.
uniprot
proteins