InnateDB Protein
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IDBP-6044.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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COL6A1
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Protein Name
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collagen, type VI, alpha 1
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Synonyms
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OPLL;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000355180
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InnateDB Gene
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IDBG-6042 (COL6A1)
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Protein Structure
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Function |
Collagen VI acts as a cell-binding protein.
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Subcellular Localization |
Secreted, extracellular space, extracellular matrix {ECO:0000250}.
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Disease Associations |
Bethlem myopathy (BM) [MIM:158810]: A benign autosomal dominant proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. {ECO:0000269PubMed:11865138, ECO:0000269PubMed:15689448, ECO:0000269PubMed:15955946, ECO:0000269PubMed:8782832}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]: UCMD is a congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. {ECO:0000269PubMed:15689448, ECO:0000269PubMed:16130093}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
11
[view]
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Protein-Protein |
11
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
Accession |
GO Term |
GO:0048407
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platelet-derived growth factor binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002035
von Willebrand factor, type A
IPR008160
Collagen triple helix repeat
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PFAM |
PF00092
PF01391
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PRINTS |
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PIRSF |
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SMART |
SM00327
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TIGRFAMs |
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Modification |
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SwissProt |
P12109
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PhosphoSite |
PhosphoSite-P12109
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TrEMBL |
Q05BT9
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UniProt Splice Variant |
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Entrez Gene |
1291
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UniGene |
Hs.474053
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RefSeq |
NP_001839
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HUGO |
HGNC:2211
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OMIM |
120220
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CCDS |
CCDS13727
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HPRD |
00370
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IMGT |
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EMBL |
BC005159
BC032821
BC052575
M20776
M27447
S75385
S75388
S75390
S75392
S75394
S75396
S75398
S75400
S75402
S75404
S75406
S75408
S75410
S75412
S75414
S75416
S75418
S75420
X06194
X15879
X15880
X99109
X99135
X99136
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GenPept |
AAA52055
AAB20835
AAH05159
AAH32821
AAH52575
CAA29555
CAA33888
CAA33889
CAA67559
CAA67576
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