POGLUT1 (protein O-glucosyltransferase 1)

2011-08-01  

Identity

HGNC
LOCATION
3q13.33
LOCUSID
ALIAS
C3orf9,CLP46,KDELCL1,KTELC1,LGMD2Z,LGMDR21,MDS010,MDSRP,Rumi,hCLP46
FUSION GENES

Other Information

Locus ID:

NCBI: 56983
MIM: 615618
HGNC: 22954
Ensembl: ENSG00000163389

Variants:

dbSNP: 56983
ClinVar: 56983
TCGA: ENSG00000163389
COSMIC: POGLUT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163389ENST00000295588Q8NBL1
ENSG00000163389ENST00000460339F8WDC4
ENSG00000163389ENST00000476573H7C5H0
ENSG00000163389ENST00000486607F8WEW4
ENSG00000163389ENST00000497447B4DVA9
ENSG00000163389ENST00000647766B4DVA9

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Other types of O-glycan biosynthesisKEGGko00514
Other types of O-glycan biosynthesisKEGGhsa00514
Signal TransductionREACTOMER-HSA-162582
Signaling by NOTCHREACTOMER-HSA-157118
Pre-NOTCH Expression and ProcessingREACTOMER-HSA-1912422
Pre-NOTCH Processing in the Endoplasmic ReticulumREACTOMER-HSA-1912399

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
243879932014Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.33
278070762016A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.24
255284432015MicroRNA-134 suppresses endometrial cancer stem cells by targeting POGLUT1 and Notch pathway proteins.23
214584122011hCLP46 regulates U937 cell proliferation via Notch signaling pathway.14
201439142010Overexpression of human CAP10-like protein 46 KD in T-acute lymphoblastic leukemia and acute myelogenous leukemia.11
236920842013Overexpression of hCLP46 enhances Notch activation and regulates cell proliferation in a cell type-dependent manner.5
290348782017Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi).5
274799152017Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.2
295697802018A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling-Degos disease.2
306431962019POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33.2

Citation

Dessen P

POGLUT1 (protein O-glucosyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-08-01

Online version: http://atlasgeneticsoncology.org/gene/52339/poglut1