COL5A1 (collagen type V alpha 1 chain)
- symbol:
- COL5A1
- locus group:
- protein-coding gene
- location:
- 9q34.3
- gene_family:
- Collagens
- alias symbol:
- None
- alias name:
- alpha 1 type V collagen
- entrez id:
- 1289
- ensembl gene id:
- ENSG00000130635
- ucsc gene id:
- uc004cfe.5
- refseq accession:
- NM_000093
- hgnc_id:
- HGNC:2209
- approved reserved:
- 1992-02-26
COL5A1基因编码胶原蛋白V型α1链，属于纤维状胶原蛋白家族。该家族成员共同特点是形成三螺旋结构，为细胞外基质提供机械支持。COL5A1主要与COL5A2和COL5A3共同组成V型胶原，在皮肤、肌腱、角膜等组织中与I型胶原共同形成异型纤维，调控纤维直径和排列。V型胶原在胚胎发育、组织修复中起关键作用。COL5A1突变最常见导致埃勒斯-当洛斯综合征（EDS）经典型，表现为皮肤过度伸展、关节活动过度和伤口愈合不良。突变通常影响胶原分子的正确折叠或分泌，导致细胞外基质结构异常。该基因单倍剂量不足（表达量降低）会减少V型胶原产量，使I型胶原纤维异常粗大，破坏组织完整性。过表达情况较少见，但可能干扰正常胶原网络组装。COL5A1还与骨关节炎、心肌纤维化等疾病相关，其多态性可能影响运动肌腱损伤风险。在伤口愈合过程中，COL5A1表达水平变化会影响修复质量。该基因通过TGF-β信号通路参与纤维化过程，并与整合素等细胞表面受体相互作用影响细胞迁移。作为细胞外基质重要组分，COL5A1表达异常会间接影响MMPs等基质降解酶的活性，进而改变组织重塑过程。
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. [provided by RefSeq, May 2013]
Gene Ontology
Subcellular localization of COL5A1 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for COL5A1:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| 4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
| 4512 ECM-receptor interaction [PATH:hsa04512] |
| 4510 Focal adhesion [PATH:hsa04510] |
| 4611 Platelet activation [PATH:hsa04611] |
| 4974 Protein digestion and absorption [PATH:hsa04974] |
| 5146 Amoebiasis [PATH:hsa05146] |
| Name |
|---|
| Assembly of collagen fibrils and other multimeric structures |
| Collagen biosynthesis and modifying enzymes |
| Collagen formation |
| Extracellular matrix organization |
| Disease | Score | NofPmids | NofSnps | Source |
| Ehlers-Danlos syndrome type 1 | 0.561357209 | 8 | 12 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
| Ehlers-Danlos syndrome type 2 | 0.241085767 | 5 | 0 | BeFree_CTD_human_ORPHANET |
| Mammary Neoplasms, Experimental | 0.12 | 1 | 0 | CTD_human |
| Animal Mammary Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Spontaneous abortion | 0.12 | 1 | 0 | CTD_human |
| Keloid | 0.12 | 1 | 0 | CTD_human |
| Ehlers-Danlos Syndrome, Type IV | 0.12 | 0 | 0 | ORPHANET |
| Ehlers-Danlos Syndrome | 0.015501981 | 27 | 2 | BeFree_LHGDN |
| Premature Birth | 0.009468128 | 4 | 0 | GAD |
| Disorder of Achilles tendon | 0.005081451 | 10 | 1 | BeFree_GAD |
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