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]
Function:
Enzyme which catalyzes the acetylation of polyamines. Substrate specificity: norspermidine = spermidine >> spermine > N(1)-acetylspermine > putrescine. This highly regulated enzyme allows a fine attenuation of the intracellular concentration of polyamines. Also involved in the regulation of polyamine transport out of cells. 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.
Subcellular Location:
Cytoplasm.
DISEASE:
Defects in SAT1 may be a cause of keratosis follicularis spinulosa decalvans X-linked (KFSDX) [MIM:301760]. A rare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration.
Similarity:
Belongs to the acetyltransferase family.
Contains 1 N-acetyltransferase domain.
SWISS:
P21673
Gene ID:
6303
Database links:
Entrez Gene: 6303 Human
Entrez Gene: 20229 Mouse
Entrez Gene: 302642 Rat
Entrez Gene: 567881 Zebrafish
Omim: 313020 Human
SwissProt: Q8AXL1 Chicken
SwissProt: Q3T0Q0 Cow
SwissProt: P21673 Human
SwissProt: P9626 Mouse
SwissProt: Q28999 Pig
SwissProt: P45380 Rat
Unigene: 9589 Chicken
Unigene: 28491 Human
Unigene: 2734 Mouse
Unigene: 455898 Mouse
Unigene: 474481 Mouse
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