TMTC1 (transmembrane O-mannosyltransferase targeting cadherins 1)

2014-10-01  

Identity

HGNC
LOCATION
12p11.22
LOCUSID
ALIAS
ARG99,OLF,TMTC1A
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
247643052014TMTC1 and TMTC2 are novel endoplasmic reticulum tetratricopeptide repeat-containing adapter proteins involved in calcium homeostasis.16
289739322017Discovery of an O-mannosylation pathway selectively serving cadherins and protocadherins.14
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11

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/tmtc1-(transmembrane-o-mannosyltransferase-targeting-cadherins-1)