TMTC3 - transmembrane O-mannosyltransferase targeting cadherins 3 Gene

Homo sapiens

Also known as LIS8; SMILE

Gene ID: 160418 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

TPR_11

TPR_2

TPR_6

TPR_8

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14778	TMTC3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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