Entity Details

Primary name MFAP5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ13361
EntryNameMFAP5_HUMAN
FullNameMicrofibrillar-associated protein 5
TaxID9606
Evidenceevidence at protein level
Length173
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesMFAP5

GO terms

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GOName
GO:0001527 microfibril
GO:0005201 extracellular matrix structural constituent
GO:0005576 extracellular region
GO:0030198 extracellular matrix organization
GO:0048048 embryonic eye morphogenesis
GO:0060216 definitive hemopoiesis
GO:0062023 collagen-containing extracellular matrix
GO:0097435 supramolecular fiber organization

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR008673 Microfibril-associated glycoproteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
616166 OMIMAortic aneurysm, familial thoracic 9 (AAT9)A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. The disease is caused by variants affecting the gene represented in this entry.