|
Gene id |
23411 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SIRT1 Gene UCSC Ensembl |
|
Aliases |
SIR2, SIR2L1, SIR2alpha |
|
Gene name |
sirtuin 1 |
|
Alternate names |
NAD-dependent protein deacetylase sirtuin-1, SIR2-like protein 1, regulatory protein SIR2 homolog 1, sirtuin type 1, |
|
Gene location |
10q21.3 (67884655: 67918389) Exons: 11 NC_000010.11
|
|
Gene summary(Entrez) |
This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been det
|
|
OMIM |
604479 |
|
|
|
|
| Associated diseases |
References |
| Cardiovascular disease | GAD: 17895433 |
| Alzheimer's disease | GAD: 17373700 |
| Endometriosis | INFBASE: 23080547 |
| Oligoasthenoteratozoospermia | MIK: 29359516 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Associated with spermatogenesis and epigenetic regulation | MIK: 21674046 |
| Oligoasthenoteratozoospermia | MIK: 29359516 |
| Varicocoele | MIK: 29359516 |
| Male infertility | MIK: 29359516 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 29359516 |
Oligoasthe
noteratozo
ospermic (
OAT) men a
ssociated
with varic
ocoele, Ma
le inferti
lity
|
|
|
81 (23 n ormozo
ospermia, 23 va
ricocoele, 35 O
AT men with var
icocoele)
|
Male infertility |
|
Show abstract |
| 18270565 |
Associated
with sper
matogenesi
s
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|