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Protein

Protein O-glucosyltransferase 1

Gene

POGLUT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Dual specificity glycosyltransferase that catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to a serine residue found in the consensus sequence of C-X-S-X-P-C (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076). Specifically targets extracellular EGF repeats of protein such as CRB2, F7, F9 and NOTCH2 (PubMed:21081508, PubMed:21490058, PubMed:21949356, PubMed:27807076). Acts as a positive regulator of Notch signaling by mediating O-glucosylation of Notch, leading to regulate muscle development (PubMed:27807076). Notch glucosylation does not affect Notch ligand binding (PubMed:21490058). Required during early development to promote gastrulation: acts by mediating O-glucosylation of CRB2, which is required for CRB2 localization to the cell membrane (By similarity).By similarity4 Publications

Catalytic activityi

UDP-alpha-D-xylose + [protein]-L-serine = UDP + [protein]-3-O-(beta-D-xylosyl)-L-serine.1 Publication

Kineticsi

  1. KM=72 µM for UDP-Glc1 Publication
  1. Vmax=7.6 pmol/min/µg enzyme1 Publication

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.3 Publications
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

GO - Molecular functioni

  • glucosyltransferase activity Source: MGI
  • protein xylosyltransferase activity Source: UniProtKB-EC
  • UDP-glucosyltransferase activity Source: UniProtKB
  • UDP-xylosyltransferase activity Source: UniProtKB

GO - Biological processi

  • axial mesoderm development Source: Ensembl
  • cardiovascular system development Source: Ensembl
  • gastrulation Source: UniProtKB-KW
  • glycolipid metabolic process Source: GO_Central
  • muscle tissue development Source: UniProtKB
  • paraxial mesoderm development Source: Ensembl
  • positive regulation of Notch signaling pathway Source: UniProtKB
  • protein O-linked glycosylation Source: MGI
  • protein O-linked glycosylation via serine Source: UniProtKB
  • regulation of gastrulation Source: UniProtKB
  • somitogenesis Source: Ensembl

Keywordsi

Molecular functionDevelopmental protein, Glycosyltransferase, Transferase
Biological processGastrulation

Enzyme and pathway databases

ReactomeiR-HSA-1912399 Pre-NOTCH Processing in the Endoplasmic Reticulum
SIGNORiQ8NBL1
UniPathwayiUPA00378

Protein family/group databases

CAZyiGT90 Glycosyltransferase Family 90

Names & Taxonomyi

Protein namesi
Recommended name:
Protein O-glucosyltransferase 1Curated (EC:2.4.1.-2 Publications)
Alternative name(s):
CAP10-like 46 kDa protein1 Publication
Short name:
hCLP461 Publication
KTEL motif-containing protein 1
Myelodysplastic syndromes relative protein
O-glucosyltransferase Rumi homolog1 Publication
Short name:
hRumi1 Publication
Protein O-xylosyltransferase POGLUT1Curated (EC:2.4.2.261 Publication)
Gene namesi
Name:POGLUT1Imported
Synonyms:C3orf9Imported, CLP461 Publication, KTELC1, MDSRP
ORF Names:MDS010, UNQ490/PRO10061 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000163389.10
HGNCiHGNC:22954 POGLUT1
MIMi615618 gene
neXtProtiNX_Q8NBL1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Dowling-Degos disease 4 (DDD4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas.
See also OMIM:615696
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077954170G → E in DDD4. 1 Publication1
Natural variantiVAR_077955218 – 392Missing in DDD4. 1 PublicationAdd BLAST175
Natural variantiVAR_077957286C → Y in DDD4. 1 Publication1
Limb-girdle muscular dystrophy 2Z (LGMD2Z)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMD2Z is characterized by young-adult onset.
See also OMIM:617232
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077956233D → E in LGMD2Z; reduced glucosyltransferase and xylosyltransferase activities; impaired Notch signaling. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi169G → E: Loss of O-glucosyltransferase activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Limb-girdle muscular dystrophy

Organism-specific databases

DisGeNETi56983
MalaCardsiPOGLUT1
MIMi615696 phenotype
617232 phenotype
OpenTargetsiENSG00000163389
Orphaneti79145 Dowling-Degos disease
PharmGKBiPA162393771

Polymorphism and mutation databases

BioMutaiPOGLUT1
DMDMi74730148

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 231 PublicationAdd BLAST23
ChainiPRO_000024668524 – 392Protein O-glucosyltransferase 1Add BLAST369

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi40N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi53N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi204N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi373N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8NBL1
MaxQBiQ8NBL1
PaxDbiQ8NBL1
PeptideAtlasiQ8NBL1
PRIDEiQ8NBL1
ProteomicsDBi72789

PTM databases

iPTMnetiQ8NBL1
PhosphoSitePlusiQ8NBL1

Expressioni

Tissue specificityi

Expressed in most adult tissues at different intensities. Abundantly expressed in liver. Expressed also in brain, heart, skeletal muscle, spleen, kidney, placenta, lung and peripheral blood leukocyte. Not detectable in colon, thymus and small intestine. Expressed in the epidermis, especially in the upper parts, stratum spinosum and stratum granulosum (at protein level).2 Publications

Gene expression databases

BgeeiENSG00000163389
CleanExiHS_KTELC1
ExpressionAtlasiQ8NBL1 baseline and differential
GenevisibleiQ8NBL1 HS

Organism-specific databases

HPAiHPA037855
HPA037856

Interactioni

Protein-protein interaction databases

BioGridi121300, 36 interactors
STRINGi9606.ENSP00000295588

Structurei

Secondary structure

1392
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi33 – 45Combined sources13
Helixi54 – 57Combined sources4
Helixi58 – 65Combined sources8
Helixi66 – 68Combined sources3
Helixi74 – 82Combined sources9
Beta strandi85 – 92Combined sources8
Beta strandi95 – 98Combined sources4
Helixi105 – 118Combined sources14
Helixi119 – 121Combined sources3
Beta strandi124 – 129Combined sources6
Beta strandi132 – 134Combined sources3
Beta strandi141 – 143Combined sources3
Beta strandi148 – 150Combined sources3
Helixi164 – 166Combined sources3
Turni174 – 176Combined sources3
Helixi184 – 197Combined sources14
Helixi200 – 202Combined sources3
Beta strandi203 – 211Combined sources9
Helixi216 – 218Combined sources3
Helixi219 – 227Combined sources9
Turni229 – 231Combined sources3
Beta strandi232 – 237Combined sources6
Helixi245 – 248Combined sources4
Helixi259 – 262Combined sources4
Beta strandi265 – 270Combined sources6
Beta strandi273 – 276Combined sources4
Helixi279 – 285Combined sources7
Beta strandi289 – 293Combined sources5
Helixi302 – 304Combined sources3
Turni307 – 309Combined sources3
Beta strandi310 – 314Combined sources5
Helixi321 – 330Combined sources10
Helixi332 – 349Combined sources18
Helixi352 – 367Combined sources16
Beta strandi381 – 383Combined sources3

3D structure databases

ProteinModelPortaliQ8NBL1
SMRiQ8NBL1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi389 – 392Prevents secretion from ERPROSITE-ProRule annotation4

Sequence similaritiesi

Belongs to the glycosyltransferase 90 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG2458 Eukaryota
ENOG410XT5U LUCA
GeneTreeiENSGT00530000063132
HOVERGENiHBG069044
InParanoidiQ8NBL1
KOiK13667
OMAiIPLVDHC
OrthoDBiEOG091G0BPU
PhylomeDBiQ8NBL1
TreeFamiTF323280

Family and domain databases

InterProiView protein in InterPro
IPR006598 LipoPS_modifying
PfamiView protein in Pfam
PF05686 Glyco_transf_90, 1 hit
SMARTiView protein in SMART
SM00672 CAP10, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q8NBL1-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEWWASSPLR LWLLLFLLPS AQGRQKESGS KWKVFIDQIN RSLENYEPCS
60 70 80 90 100
SQNCSCYHGV IEEDLTPFRG GISRKMMAEV VRRKLGTHYQ ITKNRLYREN
110 120 130 140 150
DCMFPSRCSG VEHFILEVIG RLPDMEMVIN VRDYPQVPKW MEPAIPVFSF
160 170 180 190 200
SKTSEYHDIM YPAWTFWEGG PAVWPIYPTG LGRWDLFRED LVRSAAQWPW
210 220 230 240 250
KKKNSTAYFR GSRTSPERDP LILLSRKNPK LVDAEYTKNQ AWKSMKDTLG
260 270 280 290 300
KPAAKDVHLV DHCKYKYLFN FRGVAASFRF KHLFLCGSLV FHVGDEWLEF
310 320 330 340 350
FYPQLKPWVH YIPVKTDLSN VQELLQFVKA NDDVAQEIAE RGSQFIRNHL
360 370 380 390
QMDDITCYWE NLLSEYSKFL SYNVTRRKGY DQIIPKMLKT EL
Length:392
Mass (Da):46,189
Last modified:October 1, 2002 - v1
Checksum:i25B0370757A6B224
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti287G → D in BAD96657 (Ref. 5) Curated1
Sequence conflicti371S → P in BAD96657 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02704175K → R1 PublicationCorresponds to variant dbSNP:rs11556605Ensembl.1
Natural variantiVAR_077954170G → E in DDD4. 1 Publication1
Natural variantiVAR_077955218 – 392Missing in DDD4. 1 PublicationAdd BLAST175
Natural variantiVAR_027042229P → T1 PublicationCorresponds to variant dbSNP:rs17852785Ensembl.1
Natural variantiVAR_077956233D → E in LGMD2Z; reduced glucosyltransferase and xylosyltransferase activities; impaired Notch signaling. 1 Publication1
Natural variantiVAR_077957286C → Y in DDD4. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY298903 mRNA Translation: AAP56253.1
AY358581 mRNA Translation: AAQ88944.1
AK075444 mRNA Translation: BAC11625.1
AK222937 mRNA Translation: BAD96657.1
AK315367 mRNA Translation: BAG37760.1
AC074271 Genomic DNA No translation available.
AC073352 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79570.1
BC030614 mRNA Translation: AAH30614.1
BC048810 mRNA Translation: AAH48810.1
CCDSiCCDS2988.1
RefSeqiNP_689518.1, NM_152305.2
UniGeneiHs.231750

Genome annotation databases

EnsembliENST00000295588; ENSP00000295588; ENSG00000163389
GeneIDi56983
KEGGihsa:56983
UCSCiuc003ecm.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPGLT1_HUMAN
AccessioniPrimary (citable) accession number: Q8NBL1
Secondary accession number(s): B2RD13, Q53GJ4, Q8N2T1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: October 1, 2002
Last modified: July 18, 2018
This is version 139 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

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