ADAMTSL-1/Punctin Products

Description

ADAMTSL1 encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq]

Bioinformatics

Entrez	92949 Human 362539 Rat
Uniprot	Q8N6G6 Human AAH30262 Human AAH30262.1 Human
Product By Gene ID	92949
Alternate Names	FLJ46891 Punctin-1 FLJ41032 punctin-1 DKFZp686L03130 ADAMTS-like protein 1 chromosome 9 open reading frame 94 ADAM-TS related protein 1 C9orf94 PUNCTIN ADAMTSL-1 MGC40193 FLJ35283 ADAMTSR1MGC118805 MGC118803 ADAMTS-like 1

Diseases related to ADAMTSL-1/Punctin

Discover more about diseases related to ADAMTSL-1/Punctin.

Weill-marchesani Syndrome
Aortic Dilatation
Pathological Dilatation
Airway Obstruction
Autoimmune Diseases
Immediate Hypersensitivity
Autoimmune Reaction
Chondrosarcoma
Skin Abnormalities
Asthma
Dwarfism
Lupus Erythematosus, Systemic
Ectopia Lentis
Brachydactyly
Eosinophilia
Congenital Ectopia
Marfan Syndrome
Arachnodactyly

Pathways for ADAMTSL-1/Punctin

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Secretion
Reverse Transcription
Sex Differentiation
Glycosylation
Gonad Development

PTMs for ADAMTSL-1/Punctin

Learn more about PTMs related to ADAMTSL-1/Punctin.

Cleavage
Glycosylation
C-mannosylation

Bioinformatics Tool for ADAMTSL-1/Punctin

Discover related pathways, diseases and genes to ADAMTSL-1/Punctin. Need help? Read the Bioinformatics Tool Guide for instructions on using this tool.