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| Ultimate™ ORFCard for Clone ID IOH43263 | |
|---|---|
| Gene Information | |
| Clone ID: | IOH43263 |
| Organism: | Homo sapiens |
| Matching Nucleotide Accession: | NM_212467.2|Alignment |
| Category: | 825 |
| Comment: | HS.143261 |
| Related Accession(s): | AF209502|Alignment || AY902237|Alignment || AB117940|Alignment || AB117941|Alignment || AB117942|Alignment || AF127764|Alignment || AF127765|Alignment || AK027249|Alignment || AK097401|Alignment || BC003169|Alignment || BC003521|Alignment || BC004883|Alignment || BC007810|Alignment || BC067126|Alignment || BT007322|Alignment || X85030|Alignment |
| Gene Name: | calpain 3, (p94) |
| Gene Definition: | Homo sapiens, calpain 3, (p94) (CAPN3), transcript variant 9, mRNA. |
| Gene Symbol: | CAPN3 |
| Summary: | Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternative splicing results in multiple transcripts encoding several different isoforms. |
| Expression: | Sage Tag Expression || Virtual Northern || Digital Expression Profile |
| Transcript Variant 1: | This variant (1) encodes the longest isoform (a). |
| Transcript Variant 2: | This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. It encodes isoform b, which is slightly shorter than isoform a. |
| Transcript Variant 3: | This variant (3) lacks three in-frame exons in the coding region, compared to variant 1. It encodes isoform c, which is shorter than isoform a. |
| Transcript Variant 4: | This variant (4) differs in the 5' UTR and 5' coding region, and uses a downstream start codon, compared to variant 1. It encodes isoform d, which has a shorter N-terminus compared to isoform a. |
| Transcript Variant 5: | This variant (5) differs in the 5' UTR and uses a downstream start codon, compared to variant 1. It encodes isoform e, which has a shorter N-terminus compared to isoform a. |
| Transcript Variant 6: | This variant (6) differs in the 5' UTR and uses a downstream start codon, compared to variant 1. It encodes isoform e, which has a shorter N-terminus compared to isoform a. |
| Transcript Variant 7: | This variant (7) has an alternate 5' sequence and lacks an in-frame 3' exon, as compared to variant 1. It encodes isoform f, which has a shorter and distinct N-terminus and lacks a segment in the C-terminal region compared to isoform a. |
| Transcript Variant 8: | This variant (8) has an alternate 5' sequence, and has an additional segment and lacks an exon in the 3' region, as compared to variant 1. It encodes isoform g, which has a shorter and distinct N-terminus and a truncated C-terminus compared to isoform a. |
| Transcript Variant 9: | This variant (9) has an alternate 5' sequence and an additional middle exon, and lacks a 3' exon, as compared to variant 1. It encodes isoform h, which has shorter and distinct N- and C-termini compared to isoform a. |
| mRNA Record: | NM_000070|Alignment || NM_024344|Alignment || NM_173087|Alignment || NM_173088|Alignment || NM_173089|Alignment || NM_173090|Alignment || NM_212464|Alignment || NM_212465|Alignment || NM_212467|Alignment |
| GO Category: biological process | muscle development (GO:0007517) proteolysis and peptidolysis (GO:0006508) proteolysis and peptidolysis (GO:0006508) |
| GO Category: cellular component | intracellular (GO:0005622) intracellular (GO:0005622) |
| GO Category: molecular function | calcium ion binding (GO:0005509) calpain activity (GO:0004198) calpain activity (GO:0004198) signal transducer activity (GO:0004871) |
| References: | GRIF: 825 | PUBMED: CAPN3 |
| ORF Information | |
| ORF length (bp): | 324 |
| 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: | AAL40183|Alignment || AAW69391|Alignment || BAD16649|Alignment || BAD16650|Alignment || BAD16651|Alignment || AAD28253|Alignment || AAD28254|Alignment || AAH03169|Alignment || AAH03521|Alignment || AAH04883|Alignment || AAH07810|Alignment || AAH67126|Alignment || AAP35986|Alignment || CAA59403|Alignment || P20807|Alignment |
| Protein Record: | NP_000061|Alignment || NP_077320|Alignment || NP_775110|Alignment || NP_775111|Alignment || NP_775112|Alignment || NP_775113|Alignment || NP_997629|Alignment || NP_997630|Alignment || NP_997632|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: | 114240 |
| Product: | calpain 3 isoform h |
| KEGG Pathway: | Apoptosis |
| KEGG Pathway: | Focal adhesion |
| KEGG Pathway: | Integrin-mediated cell adhesion |
| 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: | 825 |
| Unigene ID: | Hs.143261 |
| 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. | |