Official symbol | COL5A1 |
Gene id | 1289 |
Organism | Homo sapiens |
Official full symbol | collagen type V alpha 1 chain |
Gene type | protein-coding |
Also known as | EDSC, EDSCL1 |
Summary | This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. |
Genomic regions | Chromosome 9 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
COL5A1-201 | ENST00000371817.8 | 8442 | 1838aa | Protein coding | CCDS6982 | P20908-1 | NM_000093.5 | TSL:1, GENCODE basic, APPRIS P2, MANE Select v0.92, |
COL5A1-208 | ENST00000618395.4 | 8437 | 1838aa | Protein coding | CCDS75932 | P20908-2 | - | TSL:5, GENCODE basic, APPRIS ALT2, |
COL5A1-202 | ENST00000371820.3 | 628 | 210aa | Protein coding | - | H7BY82 | - | CDS 5' and 3' incomplete, TSL:2, |
COL5A1-205 | ENST00000464187.1 | 1830 | No protein | Processed transcript | - | - | - | TSL:2, |
COL5A1-207 | ENST00000469093.1 | 670 | No protein | Processed transcript | - | - | - | TSL:3, |
COL5A1-204 | ENST00000463925.1 | 533 | No protein | Processed transcript | - | - | - | TSL:3, |
COL5A1-203 | ENST00000460264.5 | 913 | No protein | Retained intron | - | - | - | TSL:3, |
COL5A1-206 | ENST00000465877.1 | 583 | No protein | Retained intron | - | - | - | TSL:3, |
Target Gene | COL5A1 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene COL5A1 had been KO in hela cell line. |
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