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| Ultimate™ ORFCard for Clone ID IOH10184 | |
|---|---|
| Gene Information | |
| Clone ID: | IOH10184 |
| Organism: | Homo sapiens |
| Matching Nucleotide Accession: | BC010518.1|Alignment |
| Category: | 23209 |
| Comment: | HS.517729 |
| Related Accession(s): | AL022327|Alignment || AF319633|Alignment || AK124264|Alignment || BC010518|Alignment || BC028425|Alignment || BC070042|Alignment || BF513319|Alignment || CR456460|Alignment || D25217|Alignment |
| Gene Name: | megalencephalic leukoencephalopathy with subcortical cysts 1 |
| Gene Definition: | Homo sapiens, megalencephalic leukoencephalopathy with subcortical cysts 1, mRNA (cDNA clone IMAGE:4150833), complete cds. |
| Gene Symbol: | MLC1 |
| Summary: | The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Two transcript variants encoding the same protein but differing in the 5' UTR have been noted for this gene. |
| Expression: | Sage Tag Expression || Virtual Northern || Digital Expression Profile |
| Transcript Variant 1: | This variant (1) contains a different 5' noncoding exon compared to transcript variant 2, thus has a distinct 5' UTR. Both variants encode the same protein. |
| Transcript Variant 2: | This variant (2) contains a different 5' noncoding exon compared to transcript variant 1, thus has a distinct 5' UTR. Both variants encode the same protein. |
| mRNA Record: | NM_015166|Alignment || NM_139202|Alignment |
| GO Category: biological process | ion transport (GO:0006811) protein biosynthesis (GO:0006412) |
| GO Category: cellular component | integral to membrane (GO:0016021) integral to membrane of membrane fraction (GO:0000299) intracellular (GO:0005622) ribosome (GO:0005840) |
| GO Category: molecular function | ion channel activity (GO:0005216) structural constituent of ribosome (GO:0003735) |
| References: | GRIF: 23209 | PUBMED: MLC1 |
| ORF Information | |
| ORF length (bp): | 198 |
| Sequence: | Nucleotide || Peptide || Translation || Quality Scores || Quality Scores with Sequence |
| Clone Information | |
| Collection Name: | Ultimate ORF Clones |
| Collection Type: | ORF Gateway™ Entry |
| Vector Name: | pENTR(tm)221 |
| Vector Antibiotic: | Kanamycin |
| Host Name: | E.coli |
| Protein | |
| Protein Accession: | CAI42687|Alignment || AAK60119|Alignment || AAH10518|Alignment || AAH28425|Alignment || AAH70042|Alignment || CAG30346|Alignment || BAA04947|Alignment || Q15049|Alignment |
| Protein Record: | NP_055981|Alignment || NP_631941|Alignment |
| Physical Properties: | (aa) || 0.0 (MW) || 0.0 (pI) |
| Protease Digestion: | Trypsin | Lys-C | Arg-C | Asp-N | V8-bicarb | V8-phosph | Chymotrypsin | CNBr |
| Predicted Secondary Structure: | View Secondary Structure |
| Protein Model Search: | Swiss-Model BLAST |
| OMIM: | 605908 |
| Product: | megalencephalic leukoencephalopathy with subcortical cysts 1 gene product |
| Human Proto Array: | ProtoArray Human Protein Microarray nc v1.0 |
| SNP Information | |
| SNP: | All rs in gene region | rs in coding region only | rs with heterozygosity only |
| SNP Map to: | Protein |
| Genomic Link | |
| LocusLink ID: | 23209 |
| Unigene ID: | Hs.517729 |
| Genome Alignment: | Map to Human Genome using BLAT || Map to Ensembl Genome Browser |
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Disclaimer: Invitrogen™ Corporation provides an evolving clone collection where each gene represented is identified as containing a complete open reading frame, based on a dynamic source of bioinformatic information contained within GenBank. GenBank is a genetic sequence database, which contains an annotated collection of all publicly available DNA sequences. Ultimate™ ORF Clones are typically derived from cDNA clones believed to contain a complete open reading frame, according to the most current GenBank update. Please note, subsequent GenBank updates may show some of these cDNA clones to contain a partial sequence, a non-coding sequence or other artifacts. Quarterly, Invitrogen™ Corporation will update the Ultimate™ ORF Clone Collection, by adding, deleting, or modifying the bioinformatic information to more accurately reflect the most current scientific information associated with each of the clones represented in the collection. It is highly recommended that the purchaser carefully evaluate the ORF clone sequence prior to purchase. It is the purchaser’s responsibility to check whether the sequence associated with any particular clone meets his/her scientific requirement prior to purchase. Invitrogen makes no warranties, express or implied, that the manufacture, use, importation, or sale of the gene contained within any Ultimate™ ORF clone will not infringe any third party intellectual property right. | |