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  2. TUSC3 - tumor suppressor candidate 3 Gene

TUSC3 - tumor suppressor candidate 3 Gene

中文名称:肿瘤抑制候选物 3

种属: Homo sapiens

同用名: M33; N33; MRT7; MRT22; MagT2; OST3A; D8S1992; SLC58A2

基因 ID: 7991 | 基因类型: protein coding

关于 TUSC3

Cytogenetic location: 8p22 Genomic coordinates (GRCh38): 8:15,540,087-15,766,649 (from NCBI)

This gene has 13 transcripts (splice variants), 208 orthologues, 1 paralogue and is associated with 3 phenotypes. Broad expression in placenta (RPKM 11.3), adrenal (RPKM 9.7) and 23 other tissues.

功能概要

该基因编码的蛋白质与多种生物学功能相关,包括细胞镁摄取、蛋白质糖基化和胚胎发育。该蛋白质定位于内质网,并作为负责 N-连接蛋白质糖基化的寡糖基转移酶复合物的组分。该基因是一个候选抑癌基因。该基因的纯合突变与常染色体隐性非综合征性精神发育迟滞 7 以及多种癌症的增殖和侵袭有关,包括转移性胰腺癌、卵巢癌和多形性胶质母细胞瘤。[RefSeq 提供,2017 年 10 月]

This gene encodes a protein that has been associated with several biological functions including cellular magnesium uptake, protein glycosylation and embryonic development. This protein localizes to the endoplasmic reticulum and acts as a component of the oligosaccharyl transferase complex which is responsible for N-linked protein glycosylation. This gene is a candidate tumor suppressor gene. Homozygous mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation-7 and in the proliferation and invasiveness of several cancers including metastatic pancreatic Cancer, ovarian Cancer and glioblastoma multiform. [provided by RefSeq, Oct 2017]

TUSC3 基因产物(27)

mRNA Protein Name
NM_001356429.2 NP_001343358.1 tumor suppressor candidate 3 isoform 1 precursor
NM_001413583.1 NP_001400512.1 tumor suppressor candidate 3 isoform 1 precursor
NM_001413669.1 NP_001400598.1 tumor suppressor candidate 3 isoform 4
NM_001413670.1 NP_001400599.1 tumor suppressor candidate 3 isoform 5
NM_001413671.1 NP_001400600.1 tumor suppressor candidate 3 isoform 3
NM_001413672.1 NP_001400601.1 tumor suppressor candidate 3 isoform 4
NM_001413673.1 NP_001400602.1 tumor suppressor candidate 3 isoform 6 precursor
NM_001413674.1 NP_001400603.1 tumor suppressor candidate 3 isoform 7 precursor
NM_001413675.1 NP_001400604.1 tumor suppressor candidate 3 isoform 8 precursor
NM_001413676.1 NP_001400605.1 tumor suppressor candidate 3 isoform 9 precursor
NM_001413677.1 NP_001400606.1 tumor suppressor candidate 3 isoform 10
NM_001413678.1 NP_001400607.1 tumor suppressor candidate 3 isoform 11
NM_001413679.1 NP_001400608.1 tumor suppressor candidate 3 isoform 12 precursor
NM_001413680.1 NP_001400609.1 tumor suppressor candidate 3 isoform 13 precursor
NM_001413681.1 NP_001400610.1 tumor suppressor candidate 3 isoform 14 precursor
NM_001413682.1 NP_001400611.1 tumor suppressor candidate 3 isoform 15 precursor
NM_001413683.1 NP_001400612.1 tumor suppressor candidate 3 isoform 16 precursor
NM_001413684.1 NP_001400613.1 tumor suppressor candidate 3 isoform 17 precursor
NM_001413685.1 NP_001400614.1 tumor suppressor candidate 3 isoform 18 precursor
NM_001413686.1 NP_001400615.1 tumor suppressor candidate 3 isoform 19 precursor
NM_001413687.1 NP_001400616.1 tumor suppressor candidate 3 isoform 20 precursor
NM_001413688.1 NP_001400617.1 tumor suppressor candidate 3 isoform 21 precursor
NM_001413689.1 NP_001400618.1 tumor suppressor candidate 3 isoform 1 precursor
NM_001413690.1 NP_001400619.1 tumor suppressor candidate 3 isoform 22 precursor
NM_001413691.1 NP_001400620.1 tumor suppressor candidate 3 isoform 23 precursor
NM_006765.4 NP_006756.2 tumor suppressor candidate 3 isoform 1 precursor
NM_178234.2 NP_839952.1 tumor suppressor candidate 3 isoform 2 precursor
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 magnesium ion transmembrane transporter activity IMP
IMP: 通过突变表型推断
19717468 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cognition IMP
IMP: 通过突变表型推断
18455129 GOA
NOT involved in magnesium ion transport IGI
IGI: 通过遗传相互作用推断
19717468 GOA
involved in magnesium ion transport IGI
IGI: 通过遗传相互作用推断
19717468 GOA
involved in magnesium ion transport IMP
IMP: 通过突变表型推断
19717468 GOA
involved in protein N-linked glycosylation via asparagine IMP
IMP: 通过突变表型推断
26864433 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of oligosaccharyltransferase complex IDA
IDA: 通过直接分析推断
15835887 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

TUSC3 蛋白结构

Thioredoxin

Thioredoxin: Thioredoxin (68 - 161)

OST3_OST6

OST3_OST6: OST3 / OST6 family, transporter family (177 - 328)

  • 0
  • 100
  • 200
  • 300
  • 348 a.a.
蛋白主名 其他名称

tumor suppressor candidate 3

dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Recessive 7

MRT7

Mrt22

Mental Retardation, Autosomal Recessive 22

Intellectual Developmental Disorder 22

Autosomal Recessive Intellectual Developmental Disorder 7

Mental Retardation, Autosomal Recessive 7

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation

CDG1N

Congenital Disorders Of Glycosylation

Cdg In

Cdgin

Congenital Disorder Of Glycosylation 1n

Carbohydrate-Deficient Glycoprotein Syndrome

Cdg

Rft1-Cdg

Cdg-In

Congenital Disorder Of Glycosylation Type In

Carbohydrate Deficient Glycoprotein Syndrome

Cdg Syndrome

Congenital Disorder Of Glycosylation In

Carbohydrate-Deficient Glycoprotein Syndromes

Cdg Syndrome Type In

Carbohydrate Deficient Glycoprotein Syndrome Type In

Congenital Disorder Of Glycosylation Type 1n

Man5glcnac2-Pp-Dol Flippase Deficiency

Glycosylation, Congenital Disorder Of

Glycosylation, Congenital Disorder Of, Type In

Pharynx Squamous Cell Carcinoma
Hypermethioninemia Due To Adenosine Kinase Deficiency

Adk Hypermethioninemia

Hypermethioninemia Encephalopathy Due To Adenosine Kinase Deficiency

Hypermethioninemia Encephalopathy Due To Adk Deficiency

Mrt8

Mental Retardation, Autosomal Recessive 8, Formerly

Mrt8, Formerly

HMAKD

Mental Retardation, Autosomal Recessive 8

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia

XMEN

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia

Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia

Cid Due To Magt1 Deficiency

Combined Immunodeficiency Due To Magt1 Deficiency

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection An

X-Linked Magnesium Deficiency With Epstein-Barr Virus Infection And Neoplasia

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

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 TUSC3 MGD MGI:1933134
Macaca mulatta TUSC3 VGNC VGNC:84132
Canis familiaris TUSC3 VGNC VGNC:56082
Rattus norvegicus TUSC3 RGD RGD:1303318
Felis catus TUSC3 VGNC VGNC:80096