COL19A1 Gene - Collagen Type XIX Alpha 1 Chain
A member of the FACIT collagen family involved in extracellular matrix organization and potential roles in neuromuscular and ocular development.
Gene Information Card
| Symbol | COL19A1 |
|---|---|
| Full Name | Collagen Type XIX Alpha 1 Chain |
| Gene Type | Protein coding |
| Chromosomal Location | 6q13 |
| NCBI Gene ID | 1310 ncbi.nlm.nih.gov/gene/1310 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q14993 |
| OMIM ID | 120328 |
| HGNC ID | 2196 |
| Aliases | COL9A1L, COL19A1, D1Ertd473e, collagen alpha-1(XIX) chain |
Description
COL19A1 encodes the alpha-1 chain of type XIX collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. This collagen is a component of the extracellular matrix and is expressed in various tissues, including skeletal muscle, eye, and brain. It is involved in maintaining tissue integrity and may play roles in neuromuscular junction formation and ocular development. Mutations in COL19A1 have been associated with myopathy and congenital eye disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myopathy, congenital, with ophthalmoplegia | Loss-of-function mutations in COL19A1 disrupt extracellular matrix structure in skeletal muscle, leading to muscle weakness and eye movement abnormalities. | ClinVar, OMIM |
| Congenital fibrosis of extraocular muscles (CFEOM) | Mutations affecting COL19A1 expression or function may impair development of extraocular muscles and their innervation. | ClinVar, OMIM |
| Ocular coloboma | Disruption of COL19A1 in ocular tissues may interfere with normal eye development and closure of the optic fissure. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Low |
| Brain | 6.1 | Low |
| Eye | 15.2 | Medium |
| Lung | 4.7 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myoblasts | 14.8 | High expression in differentiating myoblasts |
| Retinal pigment epithelial cells | 11.2 | Moderate expression |
| Fibroblasts | 9.5 | Moderate expression |
| HepG2 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature stop codon leading to loss of function; associated with congenital myopathy |
| c.567_568del (p.Glu189fs) | Frameshift | <0.01% | Frameshift causing truncated protein; linked to ocular coloboma |
| c.2345G>A (p.Gly782Asp) | Missense | <0.01% | Glycine substitution in collagen triple helix domain; may disrupt collagen assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that produce truncated, non-functional collagen alpha-1(XIX) chains, leading to reduced extracellular matrix integrity.
Gain of Function (GOF)
No gain-of-function mutations reported for COL19A1.
Dominant Negative (DN)
Missense mutations in the triple helix domain (e.g., Gly substitutions) may act in a dominant-negative manner by interfering with collagen fibril assembly.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • collagen binding |
| • extracellular matrix organization | • cell adhesion |
| • skeletal system development | • visual perception |
Pathways
• Collagen biosynthesis and modifying enzymes
• Extracellular matrix organization
• Integrin signaling pathway
Protein Summary
The collagen alpha-1(XIX) chain is a 1142-amino acid protein that forms homotrimers or heterotrimers with other collagen chains. It contains a central triple-helical domain with interruptions, characteristic of FACIT collagens. The protein is secreted and incorporated into the extracellular matrix, where it contributes to tissue structure and cell-matrix interactions. Post-translational modifications include hydroxylation of proline and lysine residues, and glycosylation of hydroxylysine.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COL19A1 Knockout HEK293 Cell Line | EDJ-KQ4310 | Human | 1310 | Details Get a Quote |
| COL19A1 Knockout HeLa Cell Line | EDJ-KQ52958 | Human | 1310 | Details Get a Quote |
| COL19A1 Knockout A-549 Cell Line | EDJ-KQ61425 | Human | 1310 | Details Get a Quote |
| COL19A1 Knockout HCT 116 Cell Line | EDJ-KQ69922 | Human | 1310 | Details Get a Quote |
