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This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
POGLUT1 (Protein O-Glucosyltransferase 1) is a Protein Coding gene. Diseases associated with POGLUT1 include Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 and Dowling-Degos Disease 4. Among its related pathways are Signaling by GPCR and Signaling by NOTCH1. Gene Ontology (GO) annotations related to this gene include protein xylosyltransferase activity and glucosyltransferase activity. An important paralog of this gene is POGLUT2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016740 | transferase activity | IEA | -- |
GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
GO:0035251 | UDP-glucosyltransferase activity | IBA,IMP | 27807076 |
GO:0035252 | UDP-xylosyltransferase activity | IEA,IMP | 27807076 |
GO:0046527 | glucosyltransferase activity | IDA | 21949356 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IDA | -- |
GO:0005788 | endoplasmic reticulum lumen | IEA,IDA | 16524674 |
GO:0005829 | cytosol | IDA | -- |
GO:0012505 | endomembrane system | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Pre-NOTCH Expression and Processing | ||
2 | Mucin type O-glycan biosynthesis | ||
3 | Signaling by GPCR | ||
4 | Signaling by NOTCH1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001756 | somitogenesis | IEA | -- |
GO:0006486 | protein glycosylation | IEA | -- |
GO:0006493 | protein O-linked glycosylation | IDA | 21949356 |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007369 | gastrulation | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14a | · | 14b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | POGLUT1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | POGLUT1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | POGLUT1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Poglut1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Poglut1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | POGLUT1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | POGLUT1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | POGLUT1 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7118 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | poglut1 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6926 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | rumi 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | CAP10_ANOGA 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G23850 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0642700 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.923 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3830 30 |
|
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639520 | Uncertain Significance: not provided | 119,490,573(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
650615 | Uncertain Significance: not provided | 119,480,142(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
655526 | Uncertain Significance: not provided | 119,471,380(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
664362 | Uncertain Significance: not provided | 119,486,927(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
729973 | Benign: not provided | 119,469,884(+) | A/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
muscular dystrophy, limb-girdle, autosomal recessive 21 |
|
|
dowling-degos disease 4 |
|
|
dowling-degos disease |
|
|
autosomal recessive limb-girdle muscular dystrophy type 2w |
|
|
muscular dystrophy |
|
|