Entity Details

Primary name CO6A1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP12109
EntryNameCO6A1_HUMAN
FullNameCollagen alpha-1(VI) chain
TaxID9606
Evidenceevidence at protein level
Length1028
SequenceStatuscomplete
DateCreated1989-10-01
DateModified2021-06-02

Ontological Relatives

GenesCOL6A1

GO terms

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GOName
GO:0001649 osteoblast differentiation
GO:0005518 collagen binding
GO:0005576 extracellular region
GO:0005589 collagen type VI trimer
GO:0005615 extracellular space
GO:0005765 lysosomal membrane
GO:0005788 endoplasmic reticulum lumen
GO:0007155 cell adhesion
GO:0016020 membrane
GO:0030020 extracellular matrix structural constituent conferring tensile strength
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0032991 protein-containing complex
GO:0035987 endodermal cell differentiation
GO:0042383 sarcolemma
GO:0048407 platelet-derived growth factor binding
GO:0062023 collagen-containing extracellular matrix
GO:0070062 extracellular exosome
GO:0071230 cellular response to amino acid stimulus

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR002035 von Willebrand factor, type ADomainDomain
IPR008160 Collagen triple helix repeatRepeatRepeat
IPR036465 von Willebrand factor A-like domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
254090 OMIMUllrich congenital muscular dystrophy 1 (UCMD1)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. The disease is caused by variants affecting the gene represented in this entry.
158810 OMIMBethlem myopathy 1 (BTHLM1)A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. The disease is caused by variants affecting the gene represented in this entry.