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 intracellular concentration of polyamines and their transport out of cells. Defects in this gene are associated with keratosis f... See more...

Aliases for SAT1 Gene

Aliases for SAT1 Gene

  • Spermidine/Spermine N1-Acetyltransferase 1 2 3 5
  • SSAT 2 3 4
  • Polyamine N-Acetyltransferase 1 3 4
  • Diamine N-Acetyltransferase 1 2 3
  • Putrescine Acetyltransferase 3 4
  • Diamine Acetyltransferase 1 3 4
  • EC 2.3.1.57 4 50
  • SSAT-1 3 4
  • SAT 3 4
  • Spermidine/Spermine N1-Acetyltransferase Alpha 3
  • Spermidine/Spermine N(1)-Acetyltransferase 1 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Spermidine/Spermine N1-Acetyltransferase 2
  • KFSDX 3
  • DC21 3
  • KFSD 3
  • SAT1 5

External Ids for SAT1 Gene

Previous HGNC Symbols for SAT1 Gene

  • SAT

Previous GeneCards Identifiers for SAT1 Gene

  • GC0XP023711
  • GC0XP021540
  • GC0XP023802
  • GC0XP023807
  • GC0XP023815

Summaries for SAT1 Gene

Entrez Gene Summary for SAT1 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 intracellular concentration of polyamines and their transport out of cells. Defects in this gene are associated with keratosis follicularis spinulosa decalvans (KFSD). Alternatively spliced transcripts have been found for this gene.[provided by RefSeq, Sep 2009]

GeneCards Summary for SAT1 Gene

SAT1 (Spermidine/Spermine N1-Acetyltransferase 1) is a Protein Coding gene. Diseases associated with SAT1 include Keratosis Follicularis Spinulosa Decalvans and Keratosis. Among its related pathways are Nucleotide Metabolism and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include N-acetyltransferase activity and spermidine binding. An important paralog of this gene is SATL1.

UniProtKB/Swiss-Prot Summary for SAT1 Gene

  • Enzyme which catalyzes the acetylation of polyamines (PubMed:15283699, PubMed:16455797, PubMed:17516632). Substrate specificity: norspermidine = spermidine >> spermine > N(1)-acetylspermine > putrescine (PubMed:17516632). This highly regulated enzyme allows a fine attenuation of the intracellular concentration of polyamines (PubMed:16455797). Also involved in the regulation of polyamine transport out of cells (PubMed:16455797). Acts on 1,3-diaminopropane, 1,5-diaminopentane, putrescine, spermidine (forming N(1)- and N(8)-acetylspermidine), spermine, N(1)-acetylspermidine and N(8)-acetylspermidine (PubMed:16455797, PubMed:17516632).

Tocris Summary for SAT1 Gene

Gene Wiki entry for SAT1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SAT1 Gene

Genomics for SAT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SAT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SAT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SAT1

Top Transcription factor binding sites by QIAGEN in the SAT1 gene promoter:
  • HNF-4alpha1
  • HNF-4alpha2
  • IRF-7A
  • Max
  • Nkx6-1
  • NRF-2
  • POU3F2
  • PPAR-alpha
  • Sp1

Genomic Locations for SAT1 Gene

Latest Assembly
chrX:23,783,173-23,786,226
(GRCh38/hg38)
Size:
3,054 bases
Orientation:
Plus strand

Previous Assembly
chrX:23,801,275-23,804,340
(GRCh37/hg19 by Entrez Gene)
Size:
3,066 bases
Orientation:
Plus strand

chrX:23,801,290-23,804,343
(GRCh37/hg19 by Ensembl)
Size:
3,054 bases
Orientation:
Plus strand

Genomic View for SAT1 Gene

Genes around SAT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAT1 Gene

Proteins for SAT1 Gene

  • Protein details for SAT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21673-SAT1_HUMAN
    Recommended name:
    Diamine acetyltransferase 1
    Protein Accession:
    P21673
    Secondary Accessions:
    • Q6ICU9

    Protein attributes for SAT1 Gene

    Size:
    171 amino acids
    Molecular mass:
    20024 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for SAT1 Gene

neXtProt entry for SAT1 Gene

Selected DME Specific Peptides for SAT1 Gene

P21673:
  • LRLIKELAKYE
  • EGHSIVGFAMYYFTYDPWIGKLLYLEDF
  • FYKRRGASDLS
  • GIGSEILKNLSQVA
  • EEGWRLFKIDKEYLLKMA

Post-translational modifications for SAT1 Gene

  • Ubiquitination at Lys3, Lys158, and Lys161
  • Modification sites at PhosphoSitePlus

Other Protein References for SAT1 Gene

Domains & Families for SAT1 Gene

Gene Families for SAT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for SAT1 Gene

InterPro:
Blocks:
  • GCN5-related N-acetyltransferase

Suggested Antigen Peptide Sequences for SAT1 Gene

GenScript: Design optimal peptide antigens:
  • Spermidine/spermine N1-acetyltransferase alpha variant (Q2TM25_HUMAN)
  • cDNA, FLJ92448, Homo sapiens spermidine/spermine N1-acetyltransferase (SAT), mRNA (Q6ICU9_HUMAN)
  • Spermidine/spermine N(1)-acetyltransferase 1 (SAT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P21673

UniProtKB/Swiss-Prot:

SAT1_HUMAN :
  • Belongs to the acetyltransferase family.
Family:
  • Belongs to the acetyltransferase family.
genes like me logo Genes that share domains with SAT1: view

Function for SAT1 Gene

Molecular function for SAT1 Gene

UniProtKB/Swiss-Prot Function:
Enzyme which catalyzes the acetylation of polyamines (PubMed:15283699, PubMed:16455797, PubMed:17516632). Substrate specificity: norspermidine = spermidine >> spermine > N(1)-acetylspermine > putrescine (PubMed:17516632). This highly regulated enzyme allows a fine attenuation of the intracellular concentration of polyamines (PubMed:16455797). Also involved in the regulation of polyamine transport out of cells (PubMed:16455797). Acts on 1,3-diaminopropane, 1,5-diaminopentane, putrescine, spermidine (forming N(1)- and N(8)-acetylspermidine), spermine, N(1)-acetylspermidine and N(8)-acetylspermidine (PubMed:16455797, PubMed:17516632).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + an alkane-alpha,omega-diamine = an N-acetylalkane-alpha,omega-diamine + CoA + H(+); Xref=Rhea:RHEA:11116, Rhea:RHEA-COMP:9766, Rhea:RHEA-COMP:9767, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:70977, ChEBI:CHEBI:70988; EC=2.3.1.57; Evidence={ECO:0000269|PubMed:15283699, ECO:0000269|PubMed:16455797, ECO:0000269|PubMed:17516632};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + spermidine = CoA + H(+) + N(1)-acetylspermidine; Xref=Rhea:RHEA:28150, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:57834, ChEBI:CHEBI:58324; EC=2.3.1.57; Evidence={ECO:0000269|PubMed:15283699, ECO:0000269|PubMed:17516632};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + spermine = CoA + H(+) + N(1)-acetylspermine; Xref=Rhea:RHEA:33099, ChEBI:CHEBI:15378, ChEBI:CHEBI:45725, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:58101; EC=2.3.1.57; Evidence={ECO:0000269|PubMed:15283699, ECO:0000269|PubMed:17516632};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=3.8 uM for acetyl-coenzyme A {ECO:0000269|PubMed:17516632}; KM=5.7 uM for spermine {ECO:0000269|PubMed:17516632}; KM=3.7 uM for spermine {ECO:0000269|PubMed:15283699}; KM=22 uM for spermidine {ECO:0000269|PubMed:17516632}; KM=58 uM for spermidine {ECO:0000269|PubMed:15283699}; Note=kcat is 8.7 sec(-1) with spermidine as substrate (PubMed:15283699). kcat is 5 sec(-1) with spermine as substrate (PubMed:15283699). {ECO:0000269|PubMed:15283699}; pH dependence: Optimum pH is 8.0. {ECO:0000269|PubMed:17516632};

Enzyme Numbers (IUBMB) for SAT1 Gene

Phenotypes From GWAS Catalog for SAT1 Gene

Gene Ontology (GO) - Molecular Function for SAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004145 diamine N-acetyltransferase activity IBA,TAS --
GO:0005515 protein binding IPI 16169070
GO:0008080 N-acetyltransferase activity IBA,IDA 15283699
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
genes like me logo Genes that share ontologies with SAT1: view
genes like me logo Genes that share phenotypes with SAT1: view

Animal Models for SAT1 Gene

MGI Knock Outs for SAT1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAT1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SAT1 Gene

Localization for SAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAT1 Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SAT1 gene
Compartment Confidence
cytosol 4
nucleus 3
plasma membrane 2
extracellular 2
mitochondrion 2
peroxisome 2
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SAT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SAT1 Gene

Pathways & Interactions for SAT1 Gene

genes like me logo Genes that share pathways with SAT1: view

UniProtKB/Swiss-Prot P21673-SAT1_HUMAN

  • Pathway: Amine and polyamine degradation; putrescine degradation; N-acetylputrescine from putrescine: step 1/1.

SIGNOR curated interactions for SAT1 Gene

Other effect:

Gene Ontology (GO) - Biological Process for SAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEP 11866539
GO:0006595 polyamine metabolic process IEA --
GO:0006596 polyamine biosynthetic process TAS --
GO:0006598 polyamine catabolic process IEA --
GO:0009447 putrescine catabolic process IEA --
genes like me logo Genes that share ontologies with SAT1: view

Drugs & Compounds for SAT1 Gene

(23) Drugs for SAT1 Gene - From: DrugBank, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
spermine Experimental Nutra Enzyme, substrate 0
putrescine Experimental Pharma 0
spermidine Experimental Pharma 0
N-ethyl-N-[3-(propylamino)propyl]propane-1,3-diamine Experimental Pharma Target 0
Tunicamycin Experimental Pharma Antibiotic; GlcNAc phosphotransferase inhibitor 0

(21) Additional Compounds for SAT1 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
72-89-9
N1-Acetylspermidine
  • 1-N-Acetylspermidine
  • An N-acetylspermidine
  • N(1)-Acetylspermidine
  • N-(3-((4-Aminobutyl)amino)propyl)-acetamide
  • N-(3-((4-Aminobutyl)amino)propyl)acetamide
14278-49-0
N1-acetylspermine
  • N'-acetylspermine
  • N'-monoacetylspermine
  • N(1)-Acetylspermine
  • N-(3-((4-((3-Aminopropyl)amino)butyl)amino)propyl)-acetamide
  • N-Acetylspermine
25593-72-0
N-Acetylputrescine
  • Acetylputrescine
  • Monoacetylputrescine
  • N-(4-Aminobutyl)acetamide
  • N-Acetylputrescine monohydrochloride
18233-70-0
Norspermidine
  • 1,7-Diamino-4-azaheptane
  • 3,3'-Iminobis(propylamine)
  • 3,3'-Iminobispropylamine
  • 3,3'-Iminodi(propylamine)
  • 3,3-Diaminodipropylamine
56-18-8

(4) Tocris Compounds for SAT1 Gene

Compound Action Cas Number
N-Acetyltryptamine Substrate for serotonin N-acetyl transferase 1016-47-3
P-3FAX-Neu5Ac Sialic acid analog; sialyltransferase inhibitor 117405-58-0
SKF 91488 dihydrochloride Histamine N-methyltransferase inhibitor 68941-21-9
Tunicamycin Antibiotic; GlcNAc phosphotransferase inhibitor 11089-65-9
genes like me logo Genes that share compounds with SAT1: view

Transcripts for SAT1 Gene

mRNA/cDNA for SAT1 Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAT1

Alternative Splicing Database (ASD) splice patterns (SP) for SAT1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c · 7d
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - -
SP6:
SP7: - - - - - - - -
SP8:
SP9:
SP10:

Relevant External Links for SAT1 Gene

GeneLoc Exon Structure for
SAT1

Expression for SAT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SAT1 Gene

mRNA differential expression in normal tissues according to GTEx for SAT1 Gene

This gene is overexpressed in Whole Blood (x7.6).

Protein differential expression in normal tissues from HIPED for SAT1 Gene

This gene is overexpressed in Bone (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SAT1 Gene



Protein tissue co-expression partners for SAT1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SAT1

SOURCE GeneReport for Unigene cluster for SAT1 Gene:

Hs.28491

Evidence on tissue expression from TISSUES for SAT1 Gene

  • Lung(5)
  • Nervous system(4.9)
  • Skin(4.8)
  • Blood(4.7)
  • Bone marrow(4.6)
  • Liver(4.4)
  • Intestine(4.2)
  • Kidney(3.7)
  • Pancreas(3.4)
  • Stomach(3.4)
  • Spleen(3.4)
  • Eye(3.3)
  • Heart(3.1)
  • Lymph node(2.9)
  • Muscle(2.9)
  • Thyroid gland(2.7)
  • Adrenal gland(2.7)
  • Gall bladder(2.7)
genes like me logo Genes that share expression patterns with SAT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SAT1 Gene

Orthologs for SAT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SAT1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SAT1 29 30
  • 100 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SAT1 29 30
  • 92.2 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sat1 29
  • 92.01 (n)
Oppossum
(Monodelphis domestica)
Mammalia SAT1 30
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Sat1 29 16 30
  • 91.42 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SAT1 30
  • 82 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SAT1 30
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SAT1 29 30
  • 77.97 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SAT1 30
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sat1 29
  • 76.22 (n)
Str.6277 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.4880 29
Zebrafish
(Danio rerio)
Actinopterygii sat1b 30
  • 74 (a)
OneToMany
sat1a.1 29 30
  • 70.18 (n)
OneToMany
wufr42a11 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9315 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG4210 30
  • 30 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea D2023.4 30
  • 28 (a)
OneToMany
Species where no ortholog for SAT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SAT1 Gene

ENSEMBL:
Gene Tree for SAT1 (if available)
TreeFam:
Gene Tree for SAT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SAT1: view image
Alliance of Genome Resources:
Additional Orthologs for SAT1

Paralogs for SAT1 Gene

Paralogs for SAT1 Gene

(4) SIMAP similar genes for SAT1 Gene using alignment to 4 proteins:

  • SAT1_HUMAN
  • A6NJE6_HUMAN
  • A6NM56_HUMAN
  • E9PD37_HUMAN

Pseudogenes.org Pseudogenes for SAT1 Gene

genes like me logo Genes that share paralogs with SAT1: view

Variants for SAT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SAT1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs142757578 Likely Benign: not provided 23,785,703(+) C/G
NM_002970.3(SAT1):c.363C>G (p.Arg121=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs200440143 Benign: not provided 23,783,890(+) C/T
NM_002970.3(SAT1):c.202+7C>T
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SAT1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SAT1 Gene

Variant ID Type Subtype PubMed ID
nsv470346 CNV gain 18288195

Variation tolerance for SAT1 Gene

Residual Variation Intolerance Score: 29.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.28; 6.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SAT1 Gene

Human Gene Mutation Database (HGMD)
SAT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAT1
Leiden Open Variation Database (LOVD)
SAT1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAT1 Gene

Disorders for SAT1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for SAT1 Gene - From: ORP, COP, and GCD

Disorder Aliases PubMed IDs
keratosis follicularis spinulosa decalvans
  • keratosis follicularis spinulosa decalvans cum ophiasi
keratosis
  • actinic keratosis
tungiasis
  • chigger flea
syndromic x-linked intellectual disability snyder type
  • mental retardation, x-linked, snyder-robinson type
acute pancreatitis
  • acute necrotizing pancreatitis
- elite association - COSMIC cancer census association via MalaCards
Search SAT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SAT1_HUMAN
  • Note=Overexpression of SAT1 and the consequent putrescine accumulation might play a role in the pathogenesis of keratosis follicularis spinulosa decalvans. {ECO:0000269 PubMed:12215835}.

Additional Disease Information for SAT1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SAT1: view

No data available for Genatlas for SAT1 Gene

Publications for SAT1 Gene

  1. Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD). (PMID: 12215835) Gimelli G … Seri M (Human genetics 2002) 3 4 22 72
  2. Structure of the human spermidine/spermine N1-acetyltransferase gene (exon/intron gene organization and localization to Xp22.1). (PMID: 1417826) Xiao L … Casero RA (Biochemical and biophysical research communications 1992) 2 3 4 22
  3. Genetic and epigenetic analysis of SSAT gene dysregulation in suicidal behavior. (PMID: 19051286) Guipponi M … Malafosse A (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 22 40
  4. Positive association between SAT-1 -1415T/C polymorphism and anxiety. (PMID: 18759322) Vaquero-Lorenzo C … Baca-Garcia E (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 22 40
  5. SAT-1 -1415T/C polymorphism and susceptibility to schizophrenia. (PMID: 19162121) Bermudo-Soriano CR … Baca-Garcia E (Progress in neuro-psychopharmacology & biological psychiatry 2009) 3 22 40

Products for SAT1 Gene

Sources for SAT1 Gene