PIAS1 Chromosome 15

Protein inhibitor of activated STAT 1

1 variant 1 Health Risk

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What This Gene Does

This gene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. This protein plays a central role as a transcriptional coregulator of numerous cellular pathways includign the STAT1 and nuclear factor kappaB pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

Gene Info

Gene Group

Zinc fingers MIZ-type

Locus Type

gene with protein product

Location

15q23

Ensembl

ENSG00000033800

Associated Conditions (1)

Nephronophthisis

Key Variants

RS774456004

Likely pathogenic

Nephronophthisis, Nephronophthisis

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS774456004	Health Risk	Likely pathogenic	Nephronophthisis, Nephronophthisis