TUSC3 - tumor suppressor candidate 3 Gene

Also Known as M33; N33; MRT7; MRT22; MagT2; OST3A; D8S1992; SLC58A2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7991

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence References Source
enables magnesium ion transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
19717468 GOA
Biological Process GO Annotation Evidence References Source
involved in cognition IMP
IMP: Inferred from mutant phenotype
18455129 GOA
NOT involved in magnesium ion transport IGI
IGI: Inferred from genetic interaction
19717468 GOA
involved in magnesium ion transport IGI
IGI: Inferred from genetic interaction
19717468 GOA
involved in magnesium ion transport IMP
IMP: Inferred from mutant phenotype
19717468 GOA
involved in protein N-linked glycosylation via asparagine IMP
IMP: Inferred from mutant phenotype
26864433 GOA
Cellular Component GO Annotation Evidence References Source
part of oligosaccharyltransferase complex IDA
IDA: Inferred from direct assay
15835887 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

TUSC3 Protein Structure

Thioredoxin

Thioredoxin: Thioredoxin (68 - 161)

OST3_OST6

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

  • 0
  • 100
  • 200
  • 300
  • 348 a.a.
Protein Preferred Names Protein Names

tumor suppressor candidate 3

  • dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3

Related Diseases

Diseases Alias
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

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

Orthologs Information

Species Symbol Source 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
Others TUSC3 NCBI