TMTC1 (transmembrane O-mannosyltransferase targeting cadherins 1)

2014-10-01  

Identity

HGNC
TMTC1
LOCATION
12p11.22
LOCUSID
83857
ALIAS
ARG99,OLF,TMTC1A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 83857
MIM: 615855
HGNC: 24099
Ensembl: ENSG00000133687

Variants:

dbSNP: 83857
ClinVar: 83857
TCGA: ENSG00000133687
COSMIC: TMTC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133687ENST00000256062Q8IUR5
ENSG00000133687ENST00000539277Q8IUR5
ENSG00000133687ENST00000550354H0YIB9
ENSG00000133687ENST00000551659F8VTQ9
ENSG00000133687ENST00000552618F8VXU8

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382324432024Hypomethylation and high expression of the TMTC1 gene in patients with schizophrenia.0
382324432024Hypomethylation and high expression of the TMTC1 gene in patients with schizophrenia.0
372214032023TMTC1 promotes invasiveness of ovarian cancer cells through integrins β1 and β4.1
372214032023TMTC1 promotes invasiveness of ovarian cancer cells through integrins β1 and β4.1
334360462021Conserved sequence motifs in human TMTC1, TMTC2, TMTC3, and TMTC4, new O-mannosyltransferases from the GT-C/PMT clan, are rationalized as ligand binding sites.9
334360462021Conserved sequence motifs in human TMTC1, TMTC2, TMTC3, and TMTC4, new O-mannosyltransferases from the GT-C/PMT clan, are rationalized as ligand binding sites.9
289739322017Discovery of an O-mannosylation pathway selectively serving cadherins and protocadherins.48
289739322017Discovery of an O-mannosylation pathway selectively serving cadherins and protocadherins.48
247643052014TMTC1 and TMTC2 are novel endoplasmic reticulum tetratricopeptide repeat-containing adapter proteins involved in calcium homeostasis.38
247643052014TMTC1 and TMTC2 are novel endoplasmic reticulum tetratricopeptide repeat-containing adapter proteins involved in calcium homeostasis.38
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15

Citation

Dessen P

TMTC1 (transmembrane O-mannosyltransferase targeting cadherins 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-10-01

Online version: http://atlasgeneticsoncology.org/gene/54928/gene-explorer/css/humanGenome