MDM1 / YML104C Overview
- Standard Name
- MDM1 1
- Systematic Name
- YML104C
- SGD ID
- SGD:S000004572
- Feature Type
- ORF , Verified
- Description
- PtdIns-3-P binding protein that tethers the ER to vacuoles at NVJs; anchored in the ER membrane at nucleus-vacuole junctions and binds phosphatidylinositol 3-phosphate (PtdIns-3-P) in the vacuolar membrane via its Phox homology (PX) domain; expressed predominantly in late G1 to early S phase of the cell cycle; mutation affects nuclear and mitochondrial transmission to daughter buds; similar to 4 human genes, one of which (SNX14) is associated with neurological disease 2 3 4 5
- Name Description
- Mitochondrial Distribution and Morphology 1
- Comparative Info
-
Sequence
The S. cerevisiae Reference Genome sequence is derived from laboratory strain S288C. Download DNA or protein sequence, view genomic context and coordinates. Click "Sequence Details" to view all sequence information for this locus, including that for other strains.
Analyze Sequence
S288C only
BLASTN | BLASTP | Design Primers | Restriction Fragment Map | Restriction Fragment Sizes | Six-Frame Translation
S288C vs. other species
BLASTN vs. fungi | BLASTP at NCBI | BLASTP vs. fungi
S288C vs. other strains
Protein
Basic sequence-derived (length, molecular weight, isoelectric point) and experimentally-determined (median abundance, median absolute deviation) protein information. Click "Protein Details" for further information about the protein such as half-life, abundance, domains, domains shared with other proteins, protein sequence retrieval for various strains, physico-chemical properties, protein modification sites, and external identifiers for the protein.
- Length (a.a.)
- 1127
- Mol. Weight (Da)
- 129967.8
- Isoelectric Point
- 6.36
- Median Abundance (molecules/cell)
- 1274 +/- 1261
Alleles
Curated mutant alleles for the specified gene, listed alphabetically. Click on the allele name to open the allele page. Click "SGD search" to view all alleles in search results.
View all MDM1 alleles in SGD search
Gene Ontology
GO Annotations consist of four mandatory components: a gene product, a term from one of the three Gene Ontology (GO) controlled vocabularies (Molecular Function, Biological Process, and Cellular Component), a reference, and an evidence code. SGD has manually curated and high-throughput GO Annotations, both derived from the literature, as well as computational, or predicted, annotations. Click "Gene Ontology Details" to view all GO information and evidence for this locus as well as biological processes it shares with other genes.
- Summary
- Phosphatidylinositol-3-phosphate binding protein involved in mitochondrial and nuclear inheritance; tethers endoplasmic reticulum to the vacuole; localizes to nucleus-vacuole junctions
View computational annotations
Molecular Function
- Manually Curated
- enables phosphatidylinositol-3-phosphate binding (IDA)
Biological Process
- Manually Curated
- involved in mitochondrion inheritance (IMP)
- involved in piecemeal microautophagy of the nucleus (IMP)
- involved in vacuole-ER tethering (IMP)
Cellular Component
- Manually Curated
- located in cell periphery (HDA)
- located in cytoplasm (HDA)
- located in fungal-type vacuole (HDA)
- is active in nucleus-vacuole junction (IDA)
Phenotype
Phenotype annotations for a gene are curated single mutant phenotypes that require an observable (e.g., "cell shape"), a qualifier (e.g., "abnormal"), a mutant type (e.g., null), strain background, and a reference. In addition, annotations are classified as classical genetics or high-throughput (e.g., large scale survey, systematic mutation set). Whenever possible, allele information and additional details are provided. Click "Phenotype Details" to view all phenotype annotations and evidence for this locus as well as phenotypes it shares with other genes.
- Summary
- Essential gene in some strain backgrounds and non-essential in others; conditional mutants have fragmented mitochondria that fail to segregate into buds and nuclei fail to segregate into buds at non-permissive temperatures; null mutant is more sensitive to DNA damaging agents; overexpression causes hypertethering of ER-vacuole
Classical Genetics
- null
- conditional
- overexpression
Disease
Disease Annotations consist of three mandatory components: a gene product, a term from the Disease Ontology (DO) controlled vocabulary and an evidence code. SGD provides manually curated DO Annotations derived from the literature. Click "Disease Details" to view all Disease information and evidence for this locus as well as diseases it shares with other genes.
- Summary
- Yeast MDM1 is homologous to human SNX14 and has been used to study autosomal recessive spinocerebellar ataxia 20
Manually Curated
Interaction
Interaction annotations are curated by BioGRID and include physical or genetic interactions observed between at least two genes. An interaction annotation is composed of the interaction type, name of the interactor, assay type (e.g., Two-Hybrid), annotation type (e.g., manual or high-throughput), and a reference, as well as other experimental details. Click "Interaction Details" to view all interaction annotations and evidence for this locus, including an interaction visualization.
127 total interactions for 122 unique genes
Physical Interactions
- Affinity Capture-MS: 9
- Affinity Capture-RNA: 6
- Affinity Capture-Western: 1
- PCA: 1
- Two-hybrid: 28
Genetic Interactions
- Negative Genetic: 68
- Phenotypic Enhancement: 3
- Phenotypic Suppression: 2
- Positive Genetic: 6
- Synthetic Growth Defect: 1
- Synthetic Rescue: 2
Regulation
The number of putative Regulators (genes that regulate it) and Targets (genes it regulates) for the given locus, based on experimental evidence. This evidence includes data generated through high-throughput techniques. Click "Regulation Details" to view all regulation annotations, shared GO enrichment among regulation Targets, and a regulator/target diagram for the locus.
- Regulators
- 5
- Targets
- 0
Expression
Expression data are derived from records contained in the Gene Expression Omnibus (GEO), and are first log2 transformed and normalized. Referenced datasets may contain one or more condition(s), and as a result there may be a greater number of conditions than datasets represented in a single clickable histogram bar. The histogram division at 0.0 separates the down-regulated (green) conditions and datasets from those that are up-regulated (red). Click "Expression Details" to view all expression annotations and details for this locus, including a visualization of genes that share a similar expression pattern.
Literature
All manually curated literature for the specified gene, organized into topics according to their relevance to the gene (Primary Literature, Additional Literature, or Review). Click "Literature Details" to view all literature information for this locus, including shared literature between genes.