InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL11A1

Summary

InnateDB Protein

IDBP-100584.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

COL11A1

Protein Name

collagen, type XI, alpha 1

Synonyms

CO11A1; COLL6; STL2;

Species

Homo sapiens

Ensembl Protein

ENSP00000302551

InnateDB Gene

IDBG-100578 (COL11A1)

Protein Structure

UniProt Annotation

Function

May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.

Subcellular Localization

Secreted, extracellular space, extracellular matrix {ECO:0000255PROSITE-ProRule:PRU00793}.

Disease Associations

Stickler syndrome 2 (STL2) [MIM:604841]: An autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. {ECO:0000269PubMed:20513134, ECO:0000269PubMed:8872475}. Note=The disease is caused by mutations affecting the gene represented in this entry.Marshall syndrome (MRSHS) [MIM:154780]: An autosomal dominant disorder characterized by ocular abnormalities, deafness, craniofacial anomalies, and anhidrotic ectodermal dysplasia. Clinical features include short stature; flat or retruded midface with short, depressed nose, flat nasal bridge and anteverted nares; cleft palate with or without the Pierre Robin sequence; appearance of large eyes with ocular hypertelorism; cataracts, either congenital or juvenile; esotropia; high myopia; sensorineural hearing loss; spondyloepiphyseal abnormalities; calcification of the falx cerebri; ectodermal abnormalities, including defects in sweating and dental structures. {ECO:0000269PubMed:10486316}. Note=The disease is caused by mutations affecting the gene represented in this entry.Fibrochondrogenesis 1 (FBCG1) [MIM:228520]: A severe short-limbed skeletal dysplasia characterized by broad long-bone metaphyses, pear-shaped vertebral bodies, and characteristic morphology of the growth plate, in which the chondrocytes have a fibroblastic appearance and there are regions of fibrous cartilage extracellular matrix. Clinical features include a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. {ECO:0000269PubMed:21035103}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Cartilage, placenta and some tumor or virally transformed cell lines. Isoforms using exon IIA or IIB are found in the cartilage while isoforms using only exon IIB are found in the tendon.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	2 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005201	extracellular matrix structural constituent
GO:0030674	protein binding, bridging
GO:0046872	metal ion binding
GO:0050840	extracellular matrix binding

Biological Process

GO:0007601	visual perception
GO:0007605	sensory perception of sound
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030199	collagen fibril organization
GO:0030574	collagen catabolic process
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound

Cellular Component

GO:0005576	extracellular region
GO:0005581	collagen trimer
GO:0005592	collagen type XI trimer
GO:0005788	endoplasmic reticulum lumen

Protein Structure and Domains

PDB ID

InterPro

IPR000885 Fibrillar collagen, C-terminal
IPR001791 Laminin G domain
IPR002181 Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain
IPR008160 Collagen triple helix repeat
IPR008985 Concanavalin A-like lectin/glucanases superfamily

PFAM

PF01410
PF00054
PF02210
PF00147
PF01391

PRINTS

PIRSF

SMART

SM00038
SM00210
SM00282
SM00186

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P12107