Basic Information

SIRT1

Full name: sirtuin 1

Gene type: protein coding

HGNC ID: HGNC:14929

Gene location: 10q21.3

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/23411

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:14929

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_012238.5

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/Q96EB6

AlphaFold: https://alphafold.ebi.ac.uk/entry/Q96EB6

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/604479

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=23411

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa00760+23411

Variant resources

Gene	Disease type	Variant type	NCBI dbSNP	Alleles	Variant location
SIRT1	Early AMD	2KB Upstream Variant	rs12778366	T>C / T>G	chr10:67883321 (GRCh38.p13)
SIRT1	AMD	2KB Upstream Variant	rs3740051	A>G / A>T	chr10:67884201 (GRCh38.p13)
SIRT1	AMD	3 Prime UTR Variant	rs4746720	T>C / T>G	chr10:67917073 (GRCh38.p13)
SIRT1	Early AMD		rs3818292
SIRT1	Early AMD		rs3758391
SIRT1	Early AMD		rs7895833