HGNC Approved Gene Symbol: COL24A1
Cytogenetic location: 1p22.3 Genomic coordinates (GRCh38): 1:85,729,233-86,156,984 (from NCBI)
By EST database searching, Koch et al. (2003) identified sequences showing homology to the C-terminal third of alpha-1 type V collagen (COL5A1; 120215). Using a PCR-based strategy, they cloned a novel human collagen, designated COL24A1, from a placenta cDNA library. The deduced protein contains a 38-amino acid signal peptide, followed by a 544-amino acid N-peptide domain, a 931-amino acid triple helix region with one imperfect 4-amino acid insertion characteristic of invertebrate collagens, and a 235-amino acid C-propeptide. The deduced N-peptide domain contains a thrombospondin N-terminal-like (TSPN) motif that shares 27.3% sequence identity with the TSPN motifs of COL5A1 and COL11A1 (120280). Its C-propeptide domain contains 8 cysteines and shares 28.4% identity with that of COL5A1. The COL24A1 N-peptide sequence contains a homolog of a conserved sequence characteristic of fibril diameter-regulating fibrillar collagen chains. COL24A1 is predicted to have a retained N-peptide after processing. Using RT-PCR of adult tissues, Koch et al. (2003) demonstrated that mouse Col24a1 is a nonabundant collagen expressed in bone and retina and to a lesser degree in cornea, skin, and tendon.
Using in situ hybridization, Koch et al. (2003) determined that mouse Col24a1 is first detected in the emerging skeletal elements of the head and appendicular skeleton at embryonic day 15. Expression at later embryonic stages was detected in the cornea, the otic capsule, and skeleton, where expression coincided with the formation of primary ossification centers and sites of high type I collagen expression. Koch et al. (2003) concluded that Col24a1 is a marker for embryonic bone formation and may play a role in regulation of type I collagen fibrillogenesis.
Koch et al. (2003) determined that the COL24A1 gene contains 49 exons.
The International Radiation Hybrid Mapping Consortium mapped the COL24A1 gene to chromosome 1 (SHGC-75097).
Koch, M., Laub, F., Zhou, P., Hahn, R. A., Tanaka, S., Burgeson, R. E., Gerecke, D. R., Ramirez, F., Gordon, M. K. Collagen XXIV, a vertebrate fibrillar collagen with structural features of invertebrate collagens: selective expression in developing cornea and bone. J. Biol. Chem. 278: 43236-43244, 2003. [PubMed: 12874293] [Full Text: https://doi.org/10.1074/jbc.M302112200]