Entity Details
| Primary name |
TMTC3_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q6ZXV5 |
| EntryName | TMTC3_HUMAN |
| FullName | Protein O-mannosyl-transferase TMTC3 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 915 |
| SequenceStatus | complete |
| DateCreated | 2007-03-20 |
| DateModified | 2021-06-02 |
GO terms
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| GO | Name |
| GO:0000030 | mannosyltransferase activity |
| GO:0004169 | dolichyl-phosphate-mannose-protein mannosyltransferase activity |
| GO:0005783 | endoplasmic reticulum |
| GO:0016021 | integral component of membrane |
| GO:0034976 | response to endoplasmic reticulum stress |
| GO:0035269 | protein O-linked mannosylation |
| GO:1901800 | positive regulation of proteasomal protein catabolic process |
Subcellular Location
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| Subcellular Location |
| Endoplasmic reticulum |
| Membrane |
Domains
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| Domain | Name | Category | Type |
| IPR011990 | Tetratricopeptide-like helical domain superfamily | Family | Homologous superfamily |
| IPR013618 | Protein O-mannosyl-transferase TMTC, DUF1736 | Domain | Domain |
| IPR019734 | Tetratricopeptide repeat | Repeat | Repeat |
Diseases
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| Disease ID | Source | Name | Description |
| 617255 | OMIM | Lissencephaly 8 (LIS8) | 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. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction