Homo sapiens Protein: COL11A1 | |||||||||||||||||||
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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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF01410
PF00054 PF02210 PF00147 PF01391 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00038
SM00210 SM00282 SM00186 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | P12107 | ||||||||||||||||||
PhosphoSite | PhosphoSite-P12107 | ||||||||||||||||||
TrEMBL | B4DQZ0 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 1301 | ||||||||||||||||||
UniGene | Hs.602186 | ||||||||||||||||||
RefSeq | NP_001177638 | ||||||||||||||||||
HUGO | HGNC:2186 | ||||||||||||||||||
OMIM | 120280 | ||||||||||||||||||
CCDS | CCDS53348 | ||||||||||||||||||
HPRD | 00375 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AC093150 AC099567 AF101079 AF101080 AF101081 AF101082 AF101083 AF101084 AF101085 AF101086 AF101087 AF101088 AF101089 AF101090 AF101091 AF101092 AF101093 AF101094 AF101095 AF101096 AF101097 AF101098 AF101099 AF101100 AF101101 AF101102 AF101103 AF101104 AF101105 AF101106 AF101107 AF101108 AF101109 AF101110 AF101111 AF101112 AK299025 AL627203 BC117697 CH471097 J04177 L38956 | ||||||||||||||||||
GenPept | AAA51891 AAA79171 AAF04724 AAF04725 AAF04726 AAI17698 BAG61102 CAH73908 EAW72908 EAW72910 | ||||||||||||||||||