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collagen 13 alpha-1 (COL13A1)
Function:
1) cell-matrix & cell-cell adhesion interactions required for normal development
2) role in linkage between muscle fiber & basement membrane
3) role in endochondral ossification of bone branching morphogenesis of lung
4) binds heparin
5) homotrimer, disulfide-linked
6) nucleation of the collagen type 13 triple helix is likely to occur at the N-terminal region with triple helix formation proceeding from the N- to the C-terminus
7) interacts with FN1, perlecan/HSPG2 & NID2
Compartment: cell membrane
Alternative splicing: named isoforms=9
Expression:
- widely expressed
- expressed in both fetal & adult ocular tissues
- in the eye, expression is accentuated in the ciliary muscle, optic nerve & neural retina
- in early placenta, localized to fibroblastoid stromal cells of the placental villi, to endothelial cells of developing capillaries & to cells of the cytotrophoblastic columns, detected in large decidual cells of the decidual membrane & to stromal cells of the gestational endometrium, but not in epithelial cells in the endometrial glands
General
collagen subunit
Properties
SIZE: MW = 70 kD
entity length = 717 aa
MOTIF: Nonhelical region 1 (NC1) {1-121}
MOTIF: transmembrane domain {45-61}
Triple-helical region 1 (COL1) {122-216}
Nonhelical region 2 (NC2) {217-269}
Triple-helical region 2 (COL2) {270-441}
Nonhelical region 3 (NC3) {442-463}
Triple-helical region 3 (COL3) {464-699}
Nonhelical region 4 (NC4) {700-717}
Database Correlations
OMIM 120350
UniProt Q5TAT6
Pfam PF01391
Entrez Gene 1305
References
- OMIM :accession 120350
- Entrez Gene :accession 1305
- UniProt :accession Q5TAT6
Component-of
collagen type-13