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TMTC1 - transmembrane O-mannosyltransferase targeting cadherins 1 Gene

Also Known as OLF; ARG99; TMTC1A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 83857

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	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	32814053	GOA

Biological Process GO Annotation	Evidence	References	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

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 Set	/	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
Others	TMTC1	NCBI