Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
6303
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Spermidine/spermine N1-acetyltransferase 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
SAT1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
DC21, KFSD, KFSDX, SAT, SSAT, SSAT-1 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
KFSDX |
Chromosome
Chromosome number
|
X |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
Xp22.11 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene belongs to the acetyltransferase family, and is a rate-limiting enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the acetylation of spermidine and spermine, and is involved in the regulation of the int |
UniProt ID |
P21673
|
Protein name |
Diamine acetyltransferase 1 (EC 2.3.1.57) (Polyamine N-acetyltransferase 1) (Putrescine acetyltransferase) (Spermidine/spermine N(1)-acetyltransferase 1) (SSAT) (SSAT-1) |
Protein function |
Enzyme which catalyzes the acetylation of polyamines (PubMed:15283699, PubMed:16455797, PubMed:17516632). Substrate specificity: norspermidine = spermidine >> spermine > N(1)-acetylspermine (PubMed:17516632). This highly regulated enzyme allows |
PDB |
2B3U
,
2B3V
,
2B4B
,
2B4D
,
2B58
,
2B5G
,
2F5I
,
2FXF
,
2G3T
,
2JEV
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00583
|
Acetyltransf_1 |
14 → 145 |
Acetyltransferase (GNAT) family |
Family |
|
Sequence |
|
Sequence length |
171 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Dermatitis |
Dermatitis, Allergic Contact |
rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 |
17374397 |
Obesity |
Obesity |
rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829 View all (27 more) |
20882379 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Mental depression |
Depressive disorder, Unipolar Depression, Major Depressive Disorder |
|
19152344, 19851986 |
ClinVar |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Acute Kidney Injury |
Associate
|
35569444 |
Anhedonia |
Associate
|
21152090 |
Anxiety |
Associate
|
21152090 |
Anxiety Disorders |
Associate
|
21152090 |
Apraxias |
Associate
|
23958961 |
Bipolar Disorder |
Associate
|
23768751, 23958961 |
Brain Neoplasms |
Stimulate
|
31399646 |
Breast Neoplasms |
Associate
|
16207710 |
Burkitt Lymphoma |
Inhibit
|
23891576 |
Calcinosis Cutis |
Stimulate
|
25893668 |
Cap Myopathy |
Associate
|
18974881 |
Carcinogenesis |
Inhibit
|
16262603 |
Carcinoma |
Associate
|
1652956 |
Carcinoma Hepatocellular |
Associate
|
27901475, 35841206 |
Carcinoma Non Small Cell Lung |
Associate
|
12697027, 16757480, 8573111 |
Carcinoma Squamous Cell |
Associate
|
36247089 |
Cardiomyopathies |
Associate
|
37872948 |
Colorectal Neoplasms |
Stimulate
|
14506281 |
Colorectal Neoplasms |
Associate
|
16262603, 16854216, 27901475 |
COVID 19 |
Associate
|
33138195 |
Diabetes Mellitus |
Associate
|
18541544 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
1417826, 2241897, 8573111 |
Glioblastoma |
Associate
|
22179681 |
Hypoxia Brain |
Stimulate
|
26572277 |
Inflammation |
Stimulate
|
16757480 |
Inflammation |
Associate
|
28809398 |
Lichen Planus Oral |
Associate
|
23892499, 39516476 |
Liver Diseases |
Associate
|
23377783 |
Lung Diseases |
Associate
|
26572277 |
Lung Neoplasms |
Associate
|
37759783, 38513095, 8573111 |
Lymphoblastic Transformation Inhibition of |
Stimulate
|
15096507 |
Lymphoma Non Hodgkin |
Associate
|
35227235 |
Mental Disorders |
Associate
|
27229768 |
Mood Disorders |
Associate
|
21152090 |
Mouth Neoplasms |
Associate
|
23892499 |
Muscular Dystrophy Duchenne |
Associate
|
24190443, 25338682 |
Neoplasm Metastasis |
Associate
|
25893668, 27901475 |
Neoplasms |
Associate
|
12697027, 1417826, 22354986, 30214636, 31399646, 35227235 |
Neoplasms |
Stimulate
|
16854216, 27411053 |
Neoplasms |
Inhibit
|
27901475 |
Obesity |
Associate
|
22354986 |
Pancreatitis |
Associate
|
36671463 |
Parkinson Disease |
Associate
|
36174040 |
Prostatic Neoplasms |
Associate
|
20460526, 24647988, 25893668 |
Psychotic Disorders |
Associate
|
23958961 |
Pterygium |
Associate
|
19956562 |
Small Cell Lung Carcinoma |
Associate
|
12697027, 2241897 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
28861772, 39516476 |
Urinary Bladder Neoplasms |
Associate
|
30214636 |
Urinary Tract Infections |
Associate
|
30391630 |
|