Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

Show/Hide all(13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0012505	Component	Endomembrane system	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0035251	Function	UDP-glucosyltransferase activity	IDA	30127001
GO:0035251	Function	UDP-glucosyltransferase activity	IEA
GO:0035252	Function	UDP-xylosyltransferase activity	IDA	30127001
GO:0035252	Function	UDP-xylosyltransferase activity	IEA
GO:0046527	Function	Glucosyltransferase activity	IBA
GO:0140561	Function	EGF-domain serine glucosyltransferase activity	IEA
GO:0140562	Function	EGF-domain serine xylosyltransferase activity	IEA

MIM	HGNC	e!Ensembl
618503	28496	ENSG00000178202

Protein

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

MRRLPRALLLQLRLALLVAAGAPEVLVSAPRSLVWGPGLQAAVVLPVRYFYLQAVNSEGQ
NLTRSPAGETPFKVVVKSLSPKELVRIHVPKPLDRNDGTFLMRYRMYETVDEGLKIEVLY
GDEHVAQSPYILKGPVYHEYCECPEDPQAWQKTLSCPTKEPQIAKDFASFPSINLQQMLK
EVPKRFGDERGAIVHYTILNNHVYRRSLGKYTDFKMFSDEILLSLTRKVLLPDLEFYVNL
GDWPLEHRKVNGTPSPIPIISWCGSLDSRDVVLPTYDITHSMLEAMRGVTNDLLSIQGNT
GPSWINKTERAFFRGRDSREERLQLVQLSKENPQLLDAGITGYFFFQEKEKELGKAKLMG
FFDFFKYKYQVNVDGTVAAYRYPYLMLGDSLVLKQDSPYYEHFYMALEPWKHYVPIKRNL
SDLLEKVKWAKENDEEAKKIAKEGQLMARDLLQPHRLYCYYYQVLQKYAERQSSKPEVRD
GMELVPQPEDSTAICQCHRKKPSREEL

Sequence length

507

Interactions

View interactions

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast Cancer	Breast cancer, Breast Cancer in BRCA1 mutation carriers, Breast cancer subtype (triple negative vs luminal A-like), Breast cancer (estrogen-receptor negative)	N/A	N/A	GWAS
Melanoma	Melanoma	N/A	N/A	GWAS
Prostate cancer	Prostate cancer	N/A	N/A	GWAS
Renal Carcinoma	Renal cell carcinoma	N/A	N/A	GWAS
Uterine Fibroids	Uterine fibroids	N/A	N/A	GWAS

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Marfan Syndrome	Associate	40107616
Melanoma	Associate	33748290
Myopathies Structural Congenital	Associate	33748290

POGLUT3 (protein O-glucosyltransferase 3)