TMTC3 - transmembrane O-mannosyltransferase targeting cadherins 3 Gene

Also Known as LIS8; SMILE

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 160418

About TMTC3

Cytogenetic location: 12q21.32 Genomic coordinates (GRCh38): 12:88,142,307-88,199,887 (from NCBI)

This gene has 4 transcripts (splice variants), 206 orthologues, 14 paralogues and is associated with 3 phenotypes. Ubiquitous expression in skin (RPKM 6.6), esophagus (RPKM 5.7) and 25 other tissues.

Summary

This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010]

TMTC3 Products (5)

mRNA Protein Name
NM_001366574.1 NP_001353503.1 protein O-mannosyl-transferase TMTC3 isoform 2
NM_001366579.1 NP_001353508.1 protein O-mannosyl-transferase TMTC3 isoform 3
NM_001366580.1 NP_001353509.1 protein O-mannosyl-transferase TMTC3 isoform 4
NM_001366583.1 NP_001353512.1 protein O-mannosyl-transferase TMTC3 isoform 5
NM_181783.4 NP_861448.2 protein O-mannosyl-transferase TMTC3 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables dolichyl-phosphate-mannose-protein mannosyltransferase activity IMP
IMP: Inferred from mutant phenotype
28973932 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of proteasomal protein catabolic process IMP
IMP: Inferred from mutant phenotype
21603654 GOA
involved in protein O-linked mannosylation IMP
IMP: Inferred from mutant phenotype
28973932 GOA
involved in response to endoplasmic reticulum stress IMP
IMP: Inferred from mutant phenotype
21603654 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
21603654 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMTC3 Protein Structure

DUF1736

DUF1736: Domain of unknown function (DUF1736) (257 - 331)

TPR_11

TPR_11: TPR repeat (444 - 511)

TPR_11

TPR_11: TPR repeat (564 - 628)

TPR_2

TPR_2: Tetratricopeptide repeat (668 - 698)

TPR_6

TPR_6: Tetratricopeptide repeat (704 - 735)

TPR_8

TPR_8: Tetratricopeptide repeat (737 - 770)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 914 a.a.
Protein Preferred Names Protein Names

protein O-mannosyl-transferase TMTC3

  • transmembrane and TPR repeat-containing protein 3

TMTC3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TMTC3 Q6ZXV5 DAB1 Homo sapiens O75553
Validated Y2H
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Lissencephaly 8

  • LIS8
Periventricular Nodular Heterotopia

  • Periventricular Heterotopia

  • Pvnh

  • Familial Nodular Heterotopia

  • Heterotopia, Periventricular

  • Periventricular Heterotopia, X-Linked
Lissencephaly

  • Pachygyria

  • Broad Gyri Of Cerebrum

  • Large Gyri Of Cerebrum

  • Macrogyria
Cobblestone Lissencephaly

  • Lissencephaly Type 2

  • Lissencephaly, Cobblestone
Van Maldergem Syndrome

  • Van Maldergem Wetzburger Verloes Syndrome

  • Cerebro-Facio-Articular Syndrome

  • Cerebro-Facio-Articular Syndrome Of Van Maldergem

  • Cerebrofacioarticular Syndrome

  • Cerebro Facio Articular Syndrome

  • Van Maldergem-Wetzburger-Verloes Syndrome
Transverse Colon Cancer

  • Malignant Neoplasm Of Transverse Colon

  • Ca Transverse Colon

  • Malignant Tumor Of Transverse Colon

  • Carcinoma Transverse Colon Nos
Hydranencephaly

  • Hydroanencephaly
Walker-Warburg Syndrome

  • Hard Syndrome

  • Walker-Warburg Congenital Muscular Dystrophy

  • Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

  • Cod-Md Syndrome

  • Chemke Syndrome

  • Hydrocephalus, Agyria And Retinal Dysplasia

  • Cerebroocular Dysgenesis

  • Cerebroocular Dysplasia Muscular Dystrophy Syndrome

  • Hard +/- E Syndrome

  • Pagon Syndrome

  • Warburg Syndrome

  • Hydrocephalus, Agyria, And Retinal Dysplasia

  • Mddga

  • Muscular Dystrophy-Dystroglycanopathy , Type A

  • Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

  • Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

  • Wws

  • Dystrophy, Muscular, Dystroglycanopathy, Type A
Congenital Nervous System Abnormality

  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS14778 TMTC3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus TMTC3 RGD RGD:1306351
Mus musculus TMTC3 MGD MGI:3036255
Bos taurus TMTC3 VGNC VGNC:36147
Felis catus TMTC3 VGNC VGNC:66392
Canis familiaris TMTC3 VGNC VGNC:47640
Macaca mulatta TMTC3 VGNC VGNC:79640
Others TMTC3 NCBI