1. Gene
  2. TMTC1 - transmembrane O-mannosyltransferase targeting cadherins 1 Gene

TMTC1 - transmembrane O-mannosyltransferase targeting cadherins 1 Gene

中文名称:靶向钙粘蛋白 1 的跨膜 O-甘露糖基转移酶

种属: Homo sapiens

同用名: OLF; ARG99; TMTC1A

基因 ID: 83857 | 基因类型: protein coding

关于 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.

功能概要

启用甘露糖基转移酶活性。参与蛋白质 O-连接的甘露糖基化。预测位于内质网。预计是膜的组成部分。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables dolichyl-phosphate-mannose-protein mannosyltransferase activity IMP
IMP: 通过突变表型推断
28973932 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein O-linked mannosylation IMP
IMP: 通过突变表型推断
28973932 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TMTC1 蛋白结构

DUF1736

DUF1736: Domain of unknown function (DUF1736) (307 - 365)

TPR_11

TPR_11: TPR repeat (481 - 545)

TPR_1

TPR_1: Tetratricopeptide repeat (549 - 578)

TPR_1

TPR_1: Tetratricopeptide repeat (582 - 614)

TPR_11

TPR_11: TPR repeat (619 - 683)

TPR_19

TPR_19: Tetratricopeptide repeat (697 - 747)

TPR_1

TPR_1: Tetratricopeptide repeat (760 - 784)

TPR_11

TPR_11: TPR repeat (790 - 854)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 882 a.a.
蛋白主名 其他名称

protein O-mannosyl-transferase TMTC1

transmembrane and tetratricopeptide repeat containing 1

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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