Hs02581612_cn

• Gene Symbol: MASP1
• Assay Reference Genome Location: Chr.3:187219958 on build GRCh38
• Cytoband: 3q27.3

Target Gene Details

• Entrez Gene ID: 5648
• Gene Name: mannan binding lectin serine peptidase 1
• Gene Aliases: 3MC1, CRARF, CRARF1, MAP1, MASP, MASP3, MAp44, PRSS5, RaRF
• Location: Chr.3:187216085-187292220 on Build GRCh38
• Assay Gene Location: Within Exon 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MASP1	NM_001879.5	16	2603	NP_001870.3
	XM_011512990.2	16	2597	XP_011511292.1
	XM_017006870.1	15	2569	XP_016862359.1
	XM_017006871.1	15	2459	XP_016862360.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1014596	Chr.3:187106902 - 187410668 on Build GRCh38	Gain	RTP1 LOC101929106 LOC101929130 RTP4 RPL39L MASP1
esv23875	Chr.3:187188590 - 187250892 on Build GRCh38	Gain	RTP1 LOC101929106 MASP1
nsv508264	Chr.3:187169641 - 187226709 on Build GRCh38	Deletion	RTP1 LOC101929106 MASP1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

complement activation, lectin pathway
proteolysis
receptor-mediated endocytosis
complement activation

Function(s)

serine-type endopeptidase activity
calcium ion binding
protein binding
peptidase activity
protein homodimerization activity
calcium-dependent protein binding