This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
人 CHMP1A (NM_001083314) cDNA克隆
| Accession: | NM_001083314 |
|---|---|
| 基因名称: | CHMP1A |
| 基因别名: | PCH8; CHMP1; PRSM1; PCOLN3; VPS46A; VPS46-1 |
| 基因描述: | Homo sapiens charged multivesicular body protein 1A (CHMP1A), transcript variant 1, mRNA. |
| 种属: | Human |
| CDS区长度: | 723 (查看编码区序列) |
| 翻译后氨基酸长度: | 240 (查看氨基酸序列) |
| Transcript Variant: | This variant (1) lacks an alternate exon in the 5' coding region that results in a frameshift in subsequent regions of the CDS, compared to variant 2. The encoded isoform (1) shares the first two residues but is otherwise distinct and longer than isoform 2. Translation of this isoform is assumed due to use of the expected start codon, which has a strong Kozak signal. |
| 人 CHMP1A (NM_001083314) cDNA克隆 | transcript variant 1 |
| 人 CHMP1A (NM_002768) cDNA克隆 | transcript variant 2 |
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