2. Gene
  3. TMTC3 - transmembrane O-mannosyltransferase targeting cadherins 3 Gene

TMTC3 - transmembrane O-mannosyltransferase targeting cadherins 3 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：靶向钙粘蛋白 3 的跨膜 O-甘露糖基转移酶

种属: Homo sapiens

同用名: LIS8; SMILE

基因 ID: 160418 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质属于跨膜和四肽重复序列蛋白质家族。[RefSeq 提供，2010 年 5 月]

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

TMTC3 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
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
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of proteasomal protein catabolic process IMP
IMP: 通过突变表型推断
21603654 GOA
involved in protein O-linked mannosylation IMP
IMP: 通过突变表型推断
28973932 GOA
involved in response to endoplasmic reticulum stress IMP
IMP: 通过突变表型推断
21603654 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
21603654 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

TMTC3 蛋白结构

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.
蛋白主名 其他名称

protein O-mannosyl-transferase TMTC3

transmembrane and TPR repeat-containing protein 3

TMTC3 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
TMTC3 Q6ZXV5 DAB1 Homo sapiens O75553
Validated Y2H
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS14778 TMTC3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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