TMTC3
entrez
160418
canonical
uniprot
Q6ZXV5
canonical
ensembl
ENSG00000139324
resolver
ensp
ENSP00000266712
resolver
genesymbol
TMTC3
resolver
hgnc
HGNC:26899
resolver
uniprot
A8K321
resolver
uniprot
Q5CZ86
resolver
uniprot
Q5H9T6
resolver
uniprot
Q68DQ6
resolver
uniprot
Q68DX0
resolver
uniprot
Q7Z332
resolver
uniprot
Q8NC50
resolver
uniprot_entry
A8K321_HUMAN
resolver
uniprot_entry
TMTC3_HUMAN
resolver
uniprot_sec
Q5CZ86
resolver
uniprot_sec
Q5H9T6
resolver
uniprot_sec
Q68DQ6
resolver
uniprot_sec
Q68DX0
resolver
uniprot_sec
Q7Z332
resolver
uniprot_sec
Q8NC50
resolver
amino_acid_sequence
MANINLKEITLIVGVVTACYWNSLFCGFVFDDVSAILDNKDLHPSTPLKTLFQNDFWGTPMSEERSHKSYRPLTVLTFRLNYLLSELKPMSYHLLNMIFHAVVSVIFLKVCKLFLDNKSSVIASLLFAVHPIHTEAVTGVVGRAELLSSIFFLAAFLSYTRSKGPDNSIIWTPIALTVFLVAVATLCKEQGITVVGICCVYEVFIAQGYTLPLLCTTAGQFLRGKGSIPFSMLQTLVKLIVLMFSTLLLVVIRVQVIQSQLPVFTRFDNPAAVSPTPTRQLTFNYLLPVNAWLLLNPSELCCDWTMGTIPLIESLLDIRNLATFTFFCFLGMLGVFSIRYSGDSSKTVLMALCLMALPFIPASNLFFPVGFVVAERVLYVPSMGFCILVAHGWQKISTKSVFKKLSWICLSMVILTHSLKTFHRNWDWESEYTLFMSALKVNKNNAKLWNNVGHALENEKNFERALKYFLQATHVQPDDIGAHMNVGRTYKNLNRTKEAEESYMMAKSLMPQIIPGKKYAARIAPNHLNVYINLANLIRANESRLEEADQLYRQAISMRPDFKQAYISRGELLLKMNKPLKAKEAYLKALELDRNNADLWYNLAIVHIELKEPNEALKKNFNRALELNPKHKLALFNSAIVMQESGEVKLRPEARKRLLSYINEEPLDANGYFNLGMLAMDDKKDNEAEIWMKKAIKLQADFRSALFNLALLYSQTAKELKALPILEELLRYYPDHIKGLILKGDILMNQKKDILGAKKCFERILEMDPSNVQGKHNLCVVYFEEKDLLKAERCLLETLALAPHEEYIQRHLNIVRDKISSSSFIEPIFPTSKISSVEGKKIPTESVKEIRGESRQTQIVKTSDNKSQSKSNKQLGKNGDEETPHKTTKDIKEIEKKRVAALKRLEEIERILNGE
uniprot
proteins
disease_involvement
DISEASE: Lissencephaly 8 (LIS8) [MIM:617255]: A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS8 patients manifest delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, hypotonia, cortical gyral abnormalities, and hypoplasia of the corpus callosum, brainstem and cerebellum. LIS8 inheritance is autosomal recessive. {ECO:0000269|PubMed:27773428}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.109
uniprot
proteins
function
FUNCTION: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3 (PubMed:28973932). Involved in the positive regulation of proteasomal protein degradation in the endoplasmic reticulum (ER), and the control of ER stress response. {ECO:0000269|PubMed:21603654, ECO:0000269|PubMed:28973932}.
uniprot
proteins
mass_dalton
104009
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:28973932}.
uniprot
proteins
protein_family
TMTC family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21603654
uniprot
proteins
pubmed
27773428
uniprot
proteins
pubmed
28973932
uniprot
proteins
sequence_length
915
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum {ECO:0000269|PubMed:21603654}. Note=In odontoblast cultures, it colocalizes with PDIA3 in the endoplasmic reticulum. {ECO:0000269|PubMed:21603654}.
uniprot
proteins
transmembrane_region
TRANSMEM 9..29; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 94..114; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 121..139; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 140..158; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 167..187; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 194..214; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 232..252; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 318..338; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 354..374; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 377..397; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 405..423; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins