Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: POGLUT1 (protein O-glucosyltransferase 1) Homo sapiens
Analyze
Symbol: POGLUT1
Name: protein O-glucosyltransferase 1
Description: Exhibits UDP-glucosyltransferase activity and UDP-xylosyltransferase activity. Involved in muscle tissue development; positive regulation of Notch signaling pathway; and protein O-linked glycosylation via serine. Localizes to the cytosol and endoplasmic reticulum lumen. Implicated in Dowling-Degos disease and autosomal recessive limb-girdle muscular dystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 9630046K23Rik; C3orf9; CAP10-like 46 kDa protein; CAP10-like protein, 46 kDa; CLP46; hCLP46; hRumi; KDELC family like 1; KDELCL1; KTEL (Lys-Tyr-Glu-Leu) containing 1; KTEL motif-containing protein 1; KTELC1; LGMD2Z; LGMDR21; MDS010; MDSRP; MGC32995; myelodysplastic syndromes relative protein; O-glucosyltransferase Rumi homolog; Rumi; x 010 protein
Orthologs:
Mus musculus (house mouse) : Poglut1 (protein O-glucosyltransferase 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Poglut1 (protein O-glucosyltransferase 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Poglut1 (protein O-glucosyltransferase 1)
Pan paniscus (bonobo/pygmy chimpanzee) : POGLUT1 (protein O-glucosyltransferase 1)
Canis lupus familiaris (dog) : POGLUT1 (protein O-glucosyltransferase 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Poglut1 (protein O-glucosyltransferase 1)
Sus scrofa (pig) : POGLUT1 (protein O-glucosyltransferase 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl3119,468,963 - 119,494,708 (+)Ensembl
GRCh383119,468,955 - 119,494,708 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373119,187,785 - 119,213,555 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363120,670,489 - 120,696,245 (+)NCBINCBI36hg18NCBI36
Celera3117,596,459 - 117,622,119 (+)NCBI
Cytogenetic Map3q13.33NCBI
HuRef3116,563,480 - 116,589,262 (+)NCBIHuRef
CHM1_13119,151,272 - 119,177,040 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on POGLUT1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1604326
Created: 2007-04-28
Species: Homo sapiens
Last Modified: 2019-12-25
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.