SAT1 (gene)

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SAT1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSAT1, DC21, KFSD, KFSDX, SAT, SSAT, SSAT-1, spermidine/spermine N1-acetyltransferase 1
External IDsOMIM: 313020; MGI: 98233; HomoloGene: 37716; GeneCards: SAT1; OMA:SAT1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002970

NM_001291865
NM_009121

RefSeq (protein)

NP_002961

NP_001278794
NP_033147

Location (UCSC)n/aChr X: 154 – 154 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Diamine acetyltransferase 1 is an enzyme that in humans is encoded by the SAT1 gene found on the X chromosome.[4][5][6]

Function

Spermidine/spermine N(1)-acetyltransferase (SPD/SPM acetyltransferase) is a rate-limiting enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the N(1)-acetylation of spermidine and spermine and, by the successive activity of polyamine oxidase, spermine can be converted to spermidine and spermidine to putrescine.[6]

Clinical significance

An association with Keratosis follicularis spinulosa decalvans has been suggested.[7]

Elevated levels of RNA transcripts of SAT1 in the bloodstream have been associated with a higher risk of suicide.[8][9][10]

References

  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025283Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ Casero RA, Celano P, Ervin SJ, Applegren NB, Wiest L, Pegg AE (January 1991). "Isolation and characterization of a cDNA clone that codes for human spermidine/spermine N1-acetyltransferase". The Journal of Biological Chemistry. 266 (2): 810–4. PMID 1985966.
  5. ^ Xiao L, Celano P, Mank AR, Griffin C, Jabs EW, Hawkins AL, Casero RA (September 1992). "Structure of the human spermidine/spermine N1-acetyltransferase gene (exon/intron gene organization and localization to Xp22.1)". Biochemical and Biophysical Research Communications. 187 (3): 1493–502. doi:10.1016/0006-291X(92)90471-V. PMID 1417826.
  6. ^ a b "Entrez Gene: SAT1 spermidine/spermine N1-acetyltransferase 1".
  7. ^ Gimelli G, Giglio S, Zuffardi O, Alhonen L, Suppola S, Cusano R, Lo Nigro C, Gatti R, Ravazzolo R, Seri M (September 2002). "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)". Human Genetics. 111 (3): 235–41. doi:10.1007/s00439-002-0791-6. PMID 12215835.
  8. ^ Honor Whiteman (21 August 2013). "'Biological signal' of suicide risk found in blood". Medical News Today. Retrieved 21 August 2013.
  9. ^ Le-Niculescu H, Levey DF, Ayalew M, Palmer L, Gavrin LM, Jain N, Winiger E, Bhosrekar S, Shankar G, Radel M, Bellanger E, Duckworth H, Olesek K, Vergo J, Schweitzer R, Yard M, Ballew A, Shekhar A, Sandusky GE, Schork NJ, Kurian SM, Salomon DR, Niculescu AB (December 2013). "Discovery and validation of blood biomarkers for suicidality". Molecular Psychiatry. 18 (12): 1249–64. doi:10.1038/mp.2013.95. PMC 3835939. PMID 23958961.
  10. ^ http://medicalxpress.com/news/2013-08-biomarkers-blood-suicide.html

Further reading