TBCK
entrez
93627
canonical
uniprot
Q8TEA7
canonical
ensembl
ENSG00000145348
resolver
ensp
ENSP00000273980
resolver
ensp
ENSP00000355338
resolver
ensp
ENSP00000378196
resolver
ensp
ENSP00000378198
resolver
ensp
ENSP00000421182
resolver
ensp
ENSP00000555998
resolver
ensp
ENSP00000637968
resolver
ensp
ENSP00000776601
resolver
ensp
ENSP00000784870
resolver
enst
ENST00000467183
resolver
genesymbol
DKFZp313C1916
resolver
genesymbol
TBCK
resolver
genesymbol_syn
FERRY1
resolver
genesymbol_syn
TBCKL
resolver
hgnc
HGNC:28261
resolver
uniprot
B9A6J1
resolver
uniprot
F6SSE4
resolver
uniprot
Q4W5B3
resolver
uniprot
Q4W5E1
resolver
uniprot
Q5HYF5
resolver
uniprot
Q6NUP4
resolver
uniprot
Q8N7M8
resolver
uniprot
Q8WW57
resolver
uniprot
Q96GV6
resolver
uniprot
Q9P080
resolver
uniprot_entry
F6SSE4_HUMAN
resolver
uniprot_entry
Q5HYF5_HUMAN
resolver
uniprot_entry
TBCK_HUMAN
resolver
uniprot_sec
B9A6J1
resolver
uniprot_sec
Q4W5B3
resolver
uniprot_sec
Q4W5E1
resolver
uniprot_sec
Q6NUP4
resolver
uniprot_sec
Q8N7M8
resolver
uniprot_sec
Q8WW57
resolver
uniprot_sec
Q96GV6
resolver
uniprot_sec
Q9P080
resolver
amino_acid_sequence
MFPLKDAEMGAFTFFASALPHDVCGSNGLPLTPNSIKILGRFQILKTITHPRLCQYVDISRGKHERLVVVAEHCERSLEDLLRERKPVSCSTVLCIAFEVLQGLQYMNKHGIVHRALSPHNILLDRKGHIKLAKFGLYHMTAHGDDVDFPIGYPSYLAPEVIAQGIFKTTDHMPSKKPLPSGPKSDVWSLGIILFELCVGRKLFQSLDISERLKFLLTLDCVDDTLIVLAEEHGCLDIIKELPETVIDLLNKCLTFHPSKRPTPDQLMKDKVFSEVSPLYTPFTKPASLFSSSLRCADLTLPEDISQLCKDINNDYLAERSIEEVYYLWCLAGGDLEKELVNKEIIRSKPPICTLPNFLFEDGESFGQGRDRSSLLDDTTVTLSLCQLRNRLKDVGGEAFYPLLEDDQSNLPHSNSNNELSAAATLPLIIREKDTEYQLNRIILFDRLLKAYPYKKNQIWKEARVDIPPLMRGLTWAALLGVEGAIHAKYDAIDKDTPIPTDRQIEVDIPRCHQYDELLSSPEGHAKFRRVLKAWVVSHPDLVYWQGLDSLCAPFLYLNFNNEALAYACMSAFIPKYLYNFFLKDNSHVIQEYLTVFSQMIAFHDPELSNHLNEIGFIPDLYAIPWFLTMFTHVFPLHKIFHLWDTLLLGNSSFPFCIGVAILQQLRDRLLANGFNECILLFSDLPEIDIERCVRESINLFCWTPKSATYRQHAQPPKPSSDSSGGRSSAPYFSAECPDPPKTDLSRESIPLNDLKSEVSPRISAEDLIDLCELTVTGHFKTPSKKTKSSKPKLLVVDIRNSEDFIRGHISGSINIPFSAAFTAEGELTQGPYTAMLQNFKGKVIVIVGHVAKHTAEFAAHLVKMKYPRICILDGGINKIKPTGLLTIPSPQI
uniprot
proteins
disease_involvement
DISEASE: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (IHPRF3) [MIM:616900]: An autosomal recessive neurodevelopmental disorder characterized by profound developmental disability, intellectual disability and severe hypotonia. Many patients have seizures, and show brain atrophy, dysgenesis of the corpus callosum and white-matter changes on neuroimaging. Non-specific facial dysmorphism is noted in some individuals. {ECO:0000269|PubMed:25558065, ECO:0000269|PubMed:27040691, ECO:0000269|PubMed:27040692}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the FERRY complex (Five-subunit Endosomal Rab5 and RNA/ribosome intermediary) (PubMed:37267905). The FERRY complex directly interacts with mRNAs and RAB5A, and functions as a RAB5A effector involved in the localization and the distribution of specific mRNAs most likely by mediating their endosomal transport. The complex recruits mRNAs and ribosomes to early endosomes through direct mRNA-interaction (PubMed:37267905). Also involved in the modulation of mTOR signaling and expression of mTOR complex components (PubMed:23977024, PubMed:27040691). Involved in the control of actin-cytoskeleton organization (PubMed:23977024). {ECO:0000269|PubMed:23977024, ECO:0000269|PubMed:24576458, ECO:0000269|PubMed:27040691, ECO:0000269|PubMed:37267905}.
uniprot
proteins
mass_dalton
100679
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
pubmed
12471243
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
19077034
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
23977024
uniprot
proteins
pubmed
24576458
uniprot
proteins
pubmed
25558065
uniprot
proteins
pubmed
27040691
uniprot
proteins
pubmed
27040692
uniprot
proteins
pubmed
37267905
uniprot
proteins
sequence_length
893
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23977024, ECO:0000269|PubMed:24576458}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:24576458}. Midbody {ECO:0000269|PubMed:24576458}. Early endosome {ECO:0000305|PubMed:37267905}. Note=Mainly localized in the cytoplasm during interphase. During metaphase, TBCK accumulates at the mitotic spindle. At the end of mitosis, it is detected at the midbody. {ECO:0000269|PubMed:24576458}.
uniprot
proteins