Entity Details

Primary name COAA1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ03692
EntryNameCOAA1_HUMAN
FullNameCollagen alpha-1(X) chain
TaxID9606
Evidenceevidence at protein level
Length680
SequenceStatuscomplete
DateCreated1995-11-01
DateModified2021-06-02

Ontological Relatives

GenesCOL10A1

GO terms

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GOName
GO:0001501 skeletal system development
GO:0005201 extracellular matrix structural constituent
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0030020 extracellular matrix structural constituent conferring tensile strength
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0031012 extracellular matrix
GO:0046872 metal ion binding
GO:0062023 collagen-containing extracellular matrix

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR001073 C1q domainDomainDomain
IPR008160 Collagen triple helix repeatRepeatRepeat
IPR008983 Tumour necrosis factor-like domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
156500 OMIMSchmid type metaphyseal chondrodysplasia (SMCD)Dominantly inherited disorder of the osseous skeleton. The cardinal features of the phenotype are mild short stature, coxa vara and a waddling gait. Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees. A variant form of SMCD is spondylometaphyseal dysplasia Japanese type. It is characterized by spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end-plate irregularity. The disease is caused by variants affecting the gene represented in this entry.