Official symbol | COL4A5 |
Gene id | 1287 |
Organism | Homo sapiens |
Official full symbol | collagen type IV alpha 5 chain |
Gene type | protein-coding |
Also known as | ASLN, ATS, ATS1, CA54 |
Summary | This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. |
Genomic regions | Chromosome X |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
COL4A5-201 | ENST00000328300.11 | 6531 | 1691aa | Protein coding | CCDS35366 | P29400-2 | NM_033380.3 | TSL:1, GENCODE basic, APPRIS P4, MANE Select v0.92, |
COL4A5-202 | ENST00000361603.7 | 6427 | 1685aa | Protein coding | CCDS14543 | P29400-1 | - | TSL:2, GENCODE basic, APPRIS ALT2, |
COL4A5-205 | ENST00000483338.1 | 3622 | 695aa | Protein coding | - | Q49AM6 | - | TSL:1, GENCODE basic, |
COL4A5-207 | ENST00000504541.1 | 859 | 73aa | Protein coding | - | H0Y9R8 | - | CDS 5' incomplete, TSL:5, |
COL4A5-210 | ENST00000515658.1 | 790 | 115aa | Protein coding | - | H0Y998 | - | CDS 5' incomplete, TSL:5, |
COL4A5-208 | ENST00000505728.1 | 537 | 174aa | Protein coding | - | H0Y9H0 | - | CDS 5' incomplete, TSL:3, |
COL4A5-211 | ENST00000642185.1 | 1014 | 40aa | Nonsense mediated decay | - | A0A2R8Y5W0 | - | - |
COL4A5-204 | ENST00000477429.1 | 564 | No protein | Processed transcript | - | - | - | TSL:1, |
COL4A5-212 | ENST00000644079.1 | 3915 | No protein | Retained intron | - | - | - | - |
COL4A5-209 | ENST00000510690.2 | 1581 | No protein | Retained intron | - | - | - | TSL:4, |
COL4A5-203 | ENST00000470339.1 | 782 | No protein | Retained intron | - | - | - | TSL:3, |
COL4A5-206 | ENST00000489230.1 | 737 | No protein | Retained intron | - | - | - | TSL:5, |
Target Gene | COL4A5 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene COL4A5 had been KO in hela cell line. |
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