POGLUT3 (protein O-glucosyltransferase 3)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
143888
Gene name Gene Name - the full gene name approved by the HGNC.
Protein O-glucosyltransferase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
POGLUT3
Synonyms (NCBI Gene) Gene synonyms aliases
KDELC2
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q22.3
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0005575 Component Cellular_component ND
GO:0005788 Component Endoplasmic reticulum lumen IEA
GO:0012505 Component Endomembrane system IBA 21873635
GO:0018242 Process Protein O-linked glycosylation via serine IDA 30127001
GO:0035251 Function UDP-glucosyltransferase activity IDA 30127001
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618503 28496 ENSG00000178202
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q7Z4H8
Protein name Protein O-glucosyltransferase 3 (EC 2.4.1.-) (KDEL motif-containing protein 2) (Protein O-xylosyltransferase POGLUT3) (EC 2.4.2.-)
Protein function Protein glucosyltransferase that catalyzes the transfer of glucose from UDP-glucose to a serine residue within the consensus sequence peptide C-X-N-T-X-G-S-F-X-C (PubMed:30127001). Can also catalyze the transfer of xylose from UDP-xylose but les
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00630 Filamin 26 → 131 Filamin/ABP280 repeat Domain
PF05686 Glyco_transf_90 151 → 505 Glycosyl transferase family 90 Family
Sequence
Sequence length 507
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)		 29058716
Renal carcinoma Renal Cell Carcinoma rs121913668, rs121913670, rs121913243, rs786202724 28598434
Show/Hide Unknown Diseases (5)
Unknown
Disease term Disease name Evidence References Source
Uterine Fibroids Uterine Fibroids GWAS
Melanoma Melanoma SMAD3 and SLC9A5 gain?of?function increases invasion capability of melanoma cells. GWAS, CBGDA
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Show/Hide Text Mining Associations (3)
Associations from Text Mining
Disease Name Relationship Type References
Marfan Syndrome Associate 40107616
Melanoma Associate 33748290
Myopathies Structural Congenital Associate 33748290