Collagen type XI alpha 1 chain (COL11A1) Associated conditions: 1. Stickler syndrome
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001190709.2 | NP_001177638.1 | NC_000001.11 | (102876472..103108521, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001854.4 | NP_001845.3 | NC_000001.11 | (102876472..103108521, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 3 | REVIEWED | NM_080629.3 | NP_542196.2 | NC_000001.11 | (102876472..103108521, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 4 | REVIEWED | NM_080630.4 | NP_542197.3 | NC_000001.11 | (102876472..103108521, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 5 | REVIEWED | NR_134980.2 | - | NC_000001.11 | (102876472..103108521, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 6 | REVIEWED | XR_007085257.1 | - | NC_000001.11 | (102876472..103108521, complement) | Reference GRCh38.p14 Primary Assembly | - |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Collagen type XI alpha 1 chain (COL11A1) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Collagen type XI alpha 1 chain (COL11A1)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IEA | enables | extracellular matrix structural constituent | Function | - |
| 2 | Homo sapiens | NAS | enables | extracellular matrix structural constituent | Function | 10486316 |
| 3 | Homo sapiens | TAS | located_in | extracellular region | Component | - |
| 4 | Homo sapiens | IEA | part_of | collagen trimer | Component | - |
| 5 | Homo sapiens | IDA | part_of | collagen type II trimer | Component | 24113490 |
| 6 | Homo sapiens | IDA | part_of | collagen type XI trimer | Component | 3182841 |
| 7 | Homo sapiens | IEA | part_of | collagen type XI trimer | Component | - |
| 8 | Homo sapiens | NAS | part_of | collagen type XI trimer | Component | 10486316 |
| 9 | Homo sapiens | IDA | located_in | endoplasmic reticulum | Component | - |
| 10 | Homo sapiens | IEA | located_in | endoplasmic reticulum lumen | Component | - |
| 11 | Homo sapiens | TAS | located_in | endoplasmic reticulum lumen | Component | - |
| 12 | Homo sapiens | IMP | involved_in | visual perception | Process | 8872475 10573014 |
| 13 | Homo sapiens | IMP | involved_in | sensory perception of sound | Process | 10573014 |
| 14 | Homo sapiens | IBA | enables | extracellular matrix structural constituent conferring tensile strength | Function | - |
| 15 | Homo sapiens | RCA | enables | extracellular matrix structural constituent conferring tensile strength | Function | 28327460 28675934 |
| 16 | Homo sapiens | IBA | involved_in | collagen fibril organization | Process | - |
| 17 | Homo sapiens | NAS | enables | protein-macromolecule adaptor activity | Function | 10486316 |
| 18 | Homo sapiens | HDA | located_in | extracellular matrix | Component | 28327460 28675934 |
| 19 | Homo sapiens | IBA | is_active_in | extracellular matrix | Component | - |
| 20 | Homo sapiens | IEA | located_in | extracellular matrix | Component | - |
| 21 | Homo sapiens | NAS | located_in | extracellular matrix | Component | 17876790 |
| 22 | Homo sapiens | IEP | involved_in | endodermal cell differentiation | Process | 23154389 |
| 23 | Homo sapiens | IEA | enables | metal ion binding | Function | - |
| 24 | Homo sapiens | IBA | involved_in | skeletal system morphogenesis | Process | - |
| 25 | Homo sapiens | NAS | enables | extracellular matrix binding | Function | 3182841 |
| 26 | Homo sapiens | IMP | involved_in | detection of mechanical stimulus involved in sensory perception of sound | Process | 10889003 |