COL24A1
| Collagen type XXIV, alpha 1 | ||
|---|---|---|
| other names |
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| Properties of human protein | ||
| Mass / length primary structure | 1,714 amino acids , 175,496 Da | |
| Isoforms | 2 | |
| Identifier | ||
| Gene name | COL24A1 | |
| External IDs | ||
| Occurrence | ||
| Parent taxon | Bilateria | |
| Orthologue | ||
| human | House mouse | |
| Entrez | 255631 | 71355 |
| Ensemble | ENSG00000171502 | ENSMUSG00000028197 |
| UniProt | Q17RW2 | Q8K4G2 |
| Refseq (mRNA) | NM_152890 | NM_027770 |
| Refseq (protein) | NP_690850.2 | NP_082046.2 |
| Gene locus | Chr 1: 85.73 - 86.16 Mb | Chr 3: 145.29 - 145.55 Mb |
| PubMed search | 255631 |
71355
|
Collagen type XXIV, alpha 1 is a collagen that the gene COL24A1 is encoded. It forms homotrimers , which in turn form collagen fibrils of type XXIV.
properties
Type XXIV, alpha 1 collagen is mainly expressed in bone tissue. The protein complex CREB-AP1 , consisting of CREB-1 and AP-1 , regulates the transcription of COL24A1 in osteoblasts ; mainly during fetal development.
Mutations in the COL24A1 gene lead to Miller-Dieker syndrome .
Web links
Individual evidence
- ↑ Noritaka Matsuo, Shizuko Tanaka, Marion K. Gordon, Manuel Koch, Hidekatsu Yoshioka, Francesco Ramirez: CREB-AP1 protein complexes regulate transcription of the collagen XXIV gene (Col24a1) in osteoblasts . In: J Biol Chem . 281, No. 9, March 3, 2006, pp. 5445-5452. doi : 10.1074 / jbc.M509923200 . PMID 16373341 .
- ↑ Manuel Koch, Friedrich Laub, Peihong Zhou, Rita A. Hahn, Shizuko Tanaka, Robert E. Burgeson, Donald R. Gerecke, Francesco Ramirez, Marion K. Gordon: Collagen XXIV, a vertebrate fibrillar collagen with structural features of invertebrate collagens: selective expression in developing cornea and bone . In: J Biol Chem . 278, No. 44, October 31, 2003, pp. 43236-43244. doi : 10.1074 / jbc.M302112200 . PMID 12874293 .