POGLUT1

From Wikipedia, the free encyclopedia

Protein O-Glucosyltransferase 1 is an enzyme which is encoded by the gene POGLUT1.[5]

AliasesPOGLUT1, C3orf9, CLP46, KDELCL1, KTELC1, MDSRP, Rumi, hCLP46, MDS010, protein O-glucosyltransferase 1, LGMD2Z, LGMDR21
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POGLUT1
Identifiers
AliasesPOGLUT1, C3orf9, CLP46, KDELCL1, KTELC1, MDSRP, Rumi, hCLP46, MDS010, protein O-glucosyltransferase 1, LGMD2Z, LGMDR21
External IDsOMIM: 615618; MGI: 2444232; HomoloGene: 41353; GeneCards: POGLUT1; OMA:POGLUT1 - orthologs
EC number2.4.2.26
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_152305

NM_001300827
NM_172380

RefSeq (protein)

NP_689518

NP_001287756
NP_759012

Location (UCSC)Chr 3: 119.47 – 119.49 MbChr 16: 38.53 – 38.55 Mb
PubMed search[3][4]
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Gene

The POGLUT1 gene is located on the long arm (q) of chromosome 3 on position 13.33, from base pair from base pair 119,468,963 to base pair 119,494,708.[6]

Function

This enzyme is located in the endoplasmic reticulum (ER), which has O-glucosyltransferase activity on Notch proteins.[7]

Clinical significance

Mutations in this gene causes autosomal recessive form of Limb-Girdle muscular dystrophy and Dowling-Degos disease.[8][9]

References

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