TMTC1 - transmembrane O-mannosyltransferase targeting cadherins 1 Gene

Homo sapiens

Also known as OLF; ARG99; TMTC1A

Gene ID: 83857 | Gene type: protein coding

About TMTC1

Cytogenetic location: 12p11.22 Genomic coordinates (GRCh38): 12:29,500,813-29,784,759 (from NCBI)

This gene has 9 transcripts (splice variants), 202 orthologues and 14 paralogues. Broad expression in fat (RPKM 11.8), spleen (RPKM 11.6) and 20 other tissues.

Summary

Enables mannosyltransferase activity. Involved in protein O-linked mannosylation. Predicted to be located in endoplasmic reticulum. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

TMTC1 Products(3)

mRNA	Protein	Name
NM_001193451.2	NP_001180380.1	protein O-mannosyl-transferase TMTC1 isoform 1
NM_001367875.2	NP_001354804.1	protein O-mannosyl-transferase TMTC1 isoform 3
NM_175861.3	NP_787057.2	protein O-mannosyl-transferase TMTC1 isoform 2

Gene Ontology

Molecular Function
Biological Process

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	32814053	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in protein O-linked mannosylation	IMP IMP: Inferred from mutant phenotype	28973932	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

TMTC1 Protein Structure

DUF1736

TPR_11

TPR_1

TPR_11

TPR_19

TPR_1

TPR_11

0
200
400
600
800
882 a.a.

Protein Preferred Names

Protein Names

protein O-mannosyl-transferase TMTC1

transmembrane and tetratricopeptide repeat containing 1

Related Diseases

Diseases

Alias

Type 1 Diabetes Mellitus 3

Diabetes Mellitus, Insulin-Dependent, 3	Iddm3
Insulin-Dependent Diabetes Mellitus 3	T1D3

Schizophrenia 19

SCZD19	Schizophrenia 19 With Or Without An Affective Disorder
Schizophrenia 19, Susceptibility To	{Schizophrenia 19, Susceptibility To}

Dystonia 12

DYT12	Rdp
Generalized Dystonia	Dystonia-12
Rapid-Onset Dystonia-Parkinsonism	Familial Dystonia
Dystonia Musculorum Deformans	Dystonic Disorders
Idiopathic Familial Dystonia	Dystonia-Parkinsonism, Rapid-Onset
Fragments Of Torsion Dystonia	Dyt-Atp1a3
Rapid-Onset Dystonia Parkinsonism	Rodp
Dystonia, Type 12	Dystonia 3, Torsion, X-Linked
Idiopathic Non-Familial Dystonia	Symptomatic Torsion Dystonia
Dystonia Disorders

Spinocerebellar Ataxia 45

SCA45

Spinocerebellar Ataxia Type 45

Steroid-Induced Glaucoma

Corticosteroid-Induced Glaucoma

Melnick-Needles Syndrome

MNS	Melnick-Needles Osteodysplasty
Osteodysplasty Of Melnick And Needles	Osteochondrodysplasias

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder	ADHD
Attention Deficit Disorder	Attention Deficit-Hyperactivity Disorder, Susceptibility To
Attention Deficit Disorder With Hyperactivity	Hyperkinetic Disorder
Hyperactivity Of Childhood	Attention-Deficit/Hyperactivity Disorder
Add	Addh
Attention Deficit	Attention Deficit Disorder Of Childhood With Hyperactivity
Attention Deficit Disorder With Hyperactivity Syndrome	Hyperkinetic Syndrome
Attention-Deficit Hyperactivity Disorder	Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
Disturbance Of Activity And Attention	Disorder Of Activity And Attention
Adhd - [Attention Deficit Hyperactivity Disorder]	Hyperkinetic Disorders
Disorder Of Activity And Attention With Hyperkinesia	Attention Deficit Syndrome With Hyperactivity

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-RS14776	TMTC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TMTC1	MGD	MGI:3039590
Bos taurus	TMTC1	VGNC	VGNC:36146
Macaca mulatta	TMTC1	VGNC	VGNC:79417
Canis familiaris	TMTC1	VGNC	VGNC:47638
Rattus norvegicus	TMTC1	RGD	RGD:1564868

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