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POGLUT1 protein O-glucosyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 56983, updated on 29-Sep-2018

Summary

Official Symbol
POGLUT1provided by HGNC
Official Full Name
protein O-glucosyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:22954
See related
Ensembl:ENSG00000163389 MIM:615618; Vega:OTTHUMG00000159379
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Rumi; CLP46; MDSRP; C3orf9; KTELC1; LGMD2Z; MDS010; hCLP46; KDELCL1; LGMDR21
Summary
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]
Expression
Ubiquitous expression in lymph node (RPKM 6.1), appendix (RPKM 5.7) and 25 other tissues See more
Orthologs

Genomic context

See POGLUT1 in Genome Data Viewer
Location:
3q13.33
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (119468938..119494708)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (119187785..119213555)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Rho GTPase activating protein 31 Neighboring gene RNA, U6 small nuclear 1127, pseudogene Neighboring gene transmembrane protein 39A Neighboring gene translocase of inner mitochondrial membrane domain containing 1 Neighboring gene cysteine and glycine rich protein 2 pseudogene 1 Neighboring gene CD80 molecule

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Dowling-degos disease 4
MedGen: C3810313 OMIM: 615696 GeneReviews: Not available
Compare labs
Muscular dystrophy, limb-girdle, type 2z
MedGen: C4310660 OMIM: 617232 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Multiple common variants for celiac disease influencing immune gene expression.
NHGRI GWA Catalog

Pathways from BioSystems

  • Other types of O-glycan biosynthesis, organism-specific biosystem (from KEGG)
    Other types of O-glycan biosynthesis, organism-specific biosystemO-linked glycosylation is the attachment of monosaccharides to the hydroxyl groups of amino acids, mostly serine and threonine, and is found in eukaryotes, archaea and bacteria. O-glycans exhibit div...
  • Other types of O-glycan biosynthesis, conserved biosystem (from KEGG)
    Other types of O-glycan biosynthesis, conserved biosystemO-linked glycosylation is the attachment of monosaccharides to the hydroxyl groups of amino acids, mostly serine and threonine, and is found in eukaryotes, archaea and bacteria. O-glycans exhibit div...
  • Pre-NOTCH Expression and Processing, organism-specific biosystem (from REACTOME)
    Pre-NOTCH Expression and Processing, organism-specific biosystemIn humans and other mammals the NOTCH gene family has four members, NOTCH1, NOTCH2, NOTCH3 and NOTCH4, encoded on four different chromosomes. Their transcription is developmentally regulated and tiss...
  • Pre-NOTCH Processing in the Endoplasmic Reticulum, organism-specific biosystem (from REACTOME)
    Pre-NOTCH Processing in the Endoplasmic Reticulum, organism-specific biosystemIn the endoplasmic reticulum, glycosyl transferases modify NOTCH precursors by glycosylating conserved serine and threonine residues in EGF repeats of NOTCH. O-fucosyl transferase POFUT1 fucosylates...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC32995

Gene Ontology Provided by GOA

Function Evidence Code Pubs
UDP-glucosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
UDP-glucosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
UDP-glucosyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
UDP-xylosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
UDP-xylosyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
glucosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein xylosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
axial mesoderm development IEA
Inferred from Electronic Annotation
more info
 
cardiovascular system development IEA
Inferred from Electronic Annotation
more info
 
gastrulation IEA
Inferred from Electronic Annotation
more info
 
muscle tissue development IMP
Inferred from Mutant Phenotype
more info
PubMed 
paraxial mesoderm development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein O-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein O-linked glycosylation IDA
Inferred from Direct Assay
more info
PubMed 
protein O-linked glycosylation via serine IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of gastrulation ISS
Inferred from Sequence or Structural Similarity
more info
 
somitogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum lumen IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein O-glucosyltransferase 1
Names
9630046K23Rik
CAP10-like 46 kDa protein
KDELC family like 1
KTEL (Lys-Tyr-Glu-Leu) containing 1
KTEL motif-containing protein 1
O-glucosyltransferase Rumi homolog
hRumi
myelodysplastic syndromes relative protein
protein O-xylosyltransferase
protein O-xylosyltransferase POGLUT1
x 010 protein
NP_689518.1
XP_006713768.1
XP_016862367.1
XP_016862368.1
XP_024309411.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034115.1 RefSeqGene

    Range
    5001..30771
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_152305.2NP_689518.1  protein O-glucosyltransferase 1 precursor

    See identical proteins and their annotated locations for NP_689518.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and is protein coding.
    Source sequence(s)
    AY298903, BP347179
    Consensus CDS
    CCDS2988.1
    UniProtKB/Swiss-Prot
    Q8NBL1
    Related
    ENSP00000295588.4, OTTHUMP00000215111, ENST00000295588.8, OTTHUMT00000355034
    Conserved Domains (1) summary
    pfam05686
    Location:49388
    Glyco_transf_90; Glycosyl transferase family 90

RNA

  1. NR_024265.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because it is a nonsense-mediated mRNA decay (NMD) candidate when the 5'-most translation start codon is used, as in variant 1.
    Source sequence(s)
    AK295984, AY298903, BP347179, CD517010

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    119468938..119494708
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453643.1XP_024309411.1  protein O-glucosyltransferase 1 isoform X1

    Conserved Domains (1) summary
    cl23835
    Location:1229
    Glyco_transf_90; Glycosyl transferase family 90
  2. XM_017006878.2XP_016862367.1  protein O-glucosyltransferase 1 isoform X1

    UniProtKB/TrEMBL
    B4DJ97
    Conserved Domains (1) summary
    cl23835
    Location:1229
    Glyco_transf_90; Glycosyl transferase family 90
  3. XM_017006879.1XP_016862368.1  protein O-glucosyltransferase 1 isoform X1

    UniProtKB/TrEMBL
    B4DJ97
    Conserved Domains (1) summary
    cl23835
    Location:1229
    Glyco_transf_90; Glycosyl transferase family 90
  4. XM_006713705.3XP_006713768.1  protein O-glucosyltransferase 1 isoform X1

    See identical proteins and their annotated locations for XP_006713768.1

    UniProtKB/TrEMBL
    B4DJ97
    Conserved Domains (1) summary
    cl23835
    Location:1229
    Glyco_transf_90; Glycosyl transferase family 90

RNA

  1. XR_001740212.2 RNA Sequence

  2. XR_001740211.2 RNA Sequence

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