HCSGD entry for MMACHC
1. General information
| Official gene symbol | MMACHC |
|---|---|
| Entrez ID | 25974 |
| Gene full name | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria |
| Other gene symbols | RP11-291L19.3 cblC |
| Links to Entrez Gene | Links to Entrez Gene |
2. Neighbors in the network
This gene isn't in Literature mining network.
3. Gene ontology annotation
GO ID | GO term | Evidence | Category |
|---|---|---|---|
| GO:0005739 | Mitochondrion | IEA | cellular_component |
| GO:0005829 | Cytosol | TAS | cellular_component |
| GO:0006766 | Vitamin metabolic process | TAS | biological_process |
| GO:0006767 | Water-soluble vitamin metabolic process | TAS | biological_process |
| GO:0009235 | Cobalamin metabolic process | TAS | biological_process |
| GO:0009236 | Cobalamin biosynthetic process | IEA | biological_process |
| GO:0031419 | Cobalamin binding | IEA | molecular_function |
| GO:0044281 | Small molecule metabolic process | TAS | biological_process |
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4. Expression levels in datasets
- Meta-analysis result
| p-value up | p-value down | FDR up | FDR down |
|---|---|---|---|
| 0.9853855971 | 0.0302953079 | 0.9999902473 | 0.3286903545 |
- Individual experiment result
( "-" represent NA in the specific microarray platform )
( "-" represent NA in the specific microarray platform )
| Data source | Up or down | Log fold change |
|---|---|---|
| GSE11954 | Up | 0.0733238736 |
| GSE13712_SHEAR | Down | -0.2077402341 |
| GSE13712_STATIC | Down | -0.1617683605 |
| GSE19018 | Down | -0.1369296234 |
| GSE19899_A1 | Down | -0.0927817288 |
| GSE19899_A2 | Up | 0.0456566634 |
| PubMed_21979375_A1 | Down | -0.6560055167 |
| PubMed_21979375_A2 | Down | -0.2001380877 |
| GSE35957 | Down | -0.0642595303 |
| GSE36640 | Down | -0.7127953816 |
| GSE54402 | Down | -0.1290762957 |
| GSE9593 | Down | -0.6667887514 |
| GSE43922 | Down | -0.1586146639 |
| GSE24585 | Down | -0.0186926593 |
| GSE37065 | Down | -0.1115954413 |
| GSE28863_A1 | Down | -0.2243901814 |
| GSE28863_A2 | Down | -0.0201622918 |
| GSE28863_A3 | Down | -0.4717810184 |
| GSE28863_A4 | Down | -0.3377883108 |
| GSE48662 | Up | 0.0536288839 |
5. Regulation relationships with compounds/drugs/microRNAs
- Compounds
Not regulated by compounds
- Drugs
Name | Drug | Accession number |
|---|---|---|
| Cyanocobalamin | DB00115 | NUTR00004 | APRD00326 | EXPT00965 |
| Hydroxocobalamin | DB00200 | APRD01022 |
- MicroRNAs
- mirTarBase
MiRNA_name | mirBase ID | miRTarBase ID | Experiment | Support type | References (Pubmed ID) |
|---|---|---|---|---|---|
| hsa-miR-98-5p | MIMAT0000096 | MIRT027474 | Microarray | Functional MTI (Weak) | 19088304 |
| hsa-miR-342-5p | MIMAT0004694 | MIRT038225 | CLASH | Functional MTI (Weak) | 23622248 |
| hsa-let-7b-5p | MIMAT0000063 | MIRT051928 | CLASH | Functional MTI (Weak) | 23622248 |
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- mirRecord
No target information from mirRecord
6. Text-mining results about the gene
Gene occurances in abstracts of cellular senescence-associated articles: This gene isn't in text-mining gene-sentence result.
