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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Protein O-mannosyl-transferase TMTC3
Summary
- UniProt ID
- Q6ZXV5
- Gene Symbol
-
- TMTC3
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Disease variant
- Endoplasmic reticulum
- Glycoprotein
- Lissencephaly
- Phosphoprotein
- Reference proteome
- Repeat
- TPR repeat
- Transferase
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| protein O-linked mannosylation |
| response to endoplasmic reticulum stress |
| positive regulation of proteasomal protein catabolic process |
| GO Term |
|---|
| membrane |
| endoplasmic reticulum |
| GO Term |
|---|
| mannosyltransferase activity |
| dolichyl-phosphate-mannose-protein mannosyltransferase activity |
Sequence
MANINLKEITLIVGVVTACYWNSLFCGFVFDDVSAILDNKDLHPSTPLKTLFQNDFWGTPMSEERSHKSYRPLTVLTFRLNYLLSELKPMSYHLLNMIFHAVVSVIFLKVCKLFLDNKSSVIASLLFAVHPIHTEAVTGVVGRAELLSSIFFLAAFLSYTRSKGPDNSIIWTPIALTVFLVAVATLCKEQGITVVGICCVYEVFIAQGYTLPLLCTTAGQFLRGKGSIPFSMLQTLVKLIVLMFSTLLLVVIRVQVIQSQLPVFTRFDNPAAVSPTPTRQLTFNYLLPVNAWLLLNPSELCCDWTMGTIPLIESLLDIRNLATFTFFCFLGMLGVFSIRYSGDSSKTVLMALCLMALPFIPASNLFFPVGFVVAERVLYVPSMGFCILVAHGWQKISTKSVFKKLSWICLSMVILTHSLKTFHRNWDWESEYTLFMSALKVNKNNAKLWNNVGHALENEKNFERALKYFLQATHVQPDDIGAHMNVGRTYKNLNRTKEAEESYMMAKSLMPQIIPGKKYAARIAPNHLNVYINLANLIRANESRLEEADQLYRQAISMRPDFKQAYISRGELLLKMNKPLKAKEAYLKALELDRNNADLWYNLAIVHIELKEPNEALKKNFNRALELNPKHKLALFNSAIVMQESGEVKLRPEARKRLLSYINEEPLDANGYFNLGMLAMDDKKDNEAEIWMKKAIKLQADFRSALFNLALLYSQTAKELKALPILEELLRYYPDHIKGLILKGDILMNQKKDILGAKKCFERILEMDPSNVQGKHNLCVVYFEEKDLLKAERCLLETLALAPHEEYIQRHLNIVRDKISSSSFIEPIFPTSKISSVEGKKIPTESVKEIRGESRQTQIVKTSDNKSQSKSNKQLGKNGDEETPHKTTKDIKEIEKKRVAALKRLEEIERILNGE
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 337 |
|
|||
| 494 | N-linked (GlcNAc...) asparagine |
|
||
| 541 | N-linked (GlcNAc...) asparagine | |||
| 819 |
|
|||
| 841 |
|
|||
| 844 |
|
|||
| 865 | N-linked (GlcNAc...) asparagine |
G49108TO
G80920RR
G62765YT
G95177YH
G31852PQ
G23719VF
G11314AS
G41247ZX
G35029YA
G36379GD
G02815KT
G57317CE
G92050GC
G57321FI
G61855PQ
G25987BV
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050453 | lissencephaly | |
| DOID:0050454 | periventricular nodular heterotopia | |
| DOID:0050590 | severe congenital neutropenia | |
| DOID:0050777 | Joubert syndrome | |
| DOID:0060058 | lymphoma | |
| DOID:0060270 | pontocerebellar hypoplasia type 2D | |
| DOID:0060276 | pontocerebellar hypoplasia type 7 | |
| DOID:0060277 | pontocerebellar hypoplasia type 8 | |
| DOID:0060278 | pontocerebellar hypoplasia type 9 | |
| DOID:0060469 | Miller-Dieker lissencephaly syndrome |
