Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

RGD ID: 1305590
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Sar1b
Name: secretion associated, Ras related GTPase 1B
Acc ID: DOID:0060357
Term: chylomicron retention disease
Definition: A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Chylomicron_retention_disease "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/10521380 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20920215 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/3430059 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/3792776 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Sar1b ISOSAR1B (Homo sapiens)7240710OMIM  
Sar1b ISOSAR1B (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Sar1b ISOSAR1B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Chylomicron retention disease | ClinVar Annotator: match by term: Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cellsPMID:10665502 PMID:12692552 PMID:17309654 PMID:17945526 PMID:19285442 PMID:24033266 PMID:25741868 PMID:28492532
Sar1b ISSSar1b (Mus musculus)13592920MouseDOOMIM:246700 
Go Back to source page   Continue to Ontology report