COL22A1

This gene encodes member of the collagen family which is thought to contribute to the stabilization of myotendinous junctions and strengthen skeletal muscle attachments during contractile activity. It belongs to the fibril-associated collagens with interrupted triple helix (FACIT) subset of the collagen superfamily, which associate with collagen fibers through their C-terminal collagenous domains and mediate protein-protein interactions through their N-terminal noncollagenous domains. The encoded protein is deposited in the basement membrane zone of the myotendinous junction which is present only at the tissue junctions of muscles, tendons, the heart, articular cartilage, and skin. A knockdown of the orthologous zebrafish gene induces a muscular dystrophy by disruption of the myotendinous junction. [provided by RefSeq, May 2017]

Description

Collagen type XXII alpha 1 chain

Tissue specificity

Tissue enriched (pituitary gland)

Subcell location

Endoplasmic reticulum, Vesicles

Predicted location

Intracellular, Secreted to extracellular matrix

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Kim et al 2014)

Chromosome

8 (138588235 - 138914041)

Ensembl ID

ENSG00000169436  (ver. 103.38)

Orthologs

-

UniProt

Q8NFW1

neXtProt

NX_Q8NFW1

Human splice variants

Protein structure