COL4A1 (collagen type IV alpha 1 chain)
- symbol:
- COL4A1
- locus group:
- protein-coding gene
- location:
- 13q34
- gene_family:
- Collagens
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 1282
- ensembl gene id:
- ENSG00000187498
- ucsc gene id:
- uc001vqw.4
- refseq accession:
- NM_001303110
- hgnc_id:
- HGNC:2202
- approved reserved:
- 2001-06-22
COL4A1基因编码IV型胶原蛋白α1链，是基底膜的重要结构成分，主要分布于血管、肾脏、眼睛和大脑等组织的基底膜中。它与其他IV型胶原蛋白（如COL4A2、COL4A3、COL4A4等）共同形成三螺旋结构，构成基底膜的网状支架，为细胞提供机械支持并参与细胞信号传导。COL4A1属于IV型胶原蛋白基因家族，该家族成员均参与基底膜的形成和稳定，具有高度保守的三螺旋结构域和多个功能域。COL4A1突变可导致多种疾病，如常染色体显性遗传的脑小血管病（表现为脑出血、脑白质病变和癫痫）、HANAC综合征（伴有动脉瘤、肌肉痉挛和视网膜病变）以及肾脏疾病（如Alport综合征样表现）。突变通常影响蛋白质的正确折叠或分泌，导致基底膜结构异常和功能受损。COL4A1过表达可能与纤维化疾病相关，如肾纤维化或肺纤维化，因其过度沉积会破坏组织稳态；而表达降低则可能导致血管脆弱性增加、出血倾向或基底膜完整性受损。该基因与其他基底膜成分（如层粘连蛋白和巢蛋白）相互作用，共同维持组织屏障功能。此外，COL4A1在胚胎发育中至关重要，其缺陷可能导致胎儿宫内生长受限或致死性发育异常。研究还发现COL4A1与某些癌症的转移相关，因为基底膜破坏是肿瘤侵袭的关键步骤。
This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
该基因编码IV型胶原α蛋白。 IV型胶原蛋白是基底膜的组成部分。该基因股与在相对链上的旁系同源基??因的双向启动子。该蛋白由氨基末端7S域，三螺旋形成胶原结构域和羧基端非胶原结构域的。它可以用作异源的部分，并与其他细胞外基质组分如perlecans，蛋白聚糖，和层粘连蛋白相互作用。此外，在被称为arresten的生物活性片段，其具有抗血管生成和肿瘤抑制性质的非胶原羧基端结构域的结果的蛋白水解切割。突变该基因引起porencephaly，脑血管疾病，和肾和肌肉缺陷。选择性剪接结果在多个抄本变形。 [由RefSeq的，2014年12月提供]
基因本体信息
COL4A1基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
COL4A1基因的本体（GO）信息：
| 名称 |
|---|
| 4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
| 4512 ECM-receptor interaction [PATH:hsa04512] |
| 4510 Focal adhesion [PATH:hsa04510] |
| 4974 Protein digestion and absorption [PATH:hsa04974] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5222 Small cell lung cancer [PATH:hsa05222] |
| 5146 Amoebiasis [PATH:hsa05146] |
| 名称 |
|---|
| Assembly of collagen fibrils and other multimeric structures |
| Axon guidance |
| Binding and Uptake of Ligands by Scavenger Receptors |
| Collagen biosynthesis and modifying enzymes |
| Collagen formation |
| Developmental Biology |
| Extracellular matrix organization |
| Integrin cell surface interactions |
| NCAM signaling for neurite out-growth |
| NCAM1 interactions |
| Scavenging by Class A Receptors |
| Signal Transduction |
| Signaling by PDGF |
| Vesicle-mediated transport |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps | 0.481085767 | 5 | 6 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
| PORENCEPHALY, FAMILIAL | 0.444071628 | 15 | 7 | BeFree_CLINVAR_MGD_ORPHANET_UNIPROT |
| Schizencephaly | 0.360271442 | 1 | 1 | BeFree_CLINVAR_ORPHANET_UNIPROT |
| RETINAL ARTERIES, TORTUOSITY OF | 0.36 | 1 | 1 | CLINVAR_ORPHANET_UNIPROT |
| BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE | 0.240542884 | 2 | 11 | BeFree_CLINVAR_CTD_human |
| Walker-Warburg congenital muscular dystrophy | 0.200814326 | 3 | 0 | BeFree_MGD_ORPHANET |
| BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES | 0.2 | 7 | 0 | MGD_UNIPROT |
| Congenital porencephaly | 0.120271442 | 1 | 0 | BeFree_CTD_human |
| Diabetic Nephropathy | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Infectious Canine Hepatitis | 0.12 | 0 | 2 | CLINVAR |
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