SMS
entrez
6611
canonical
uniprot
P52788
canonical
ensembl
ENSG00000102172
resolver
ensp
ENSP00000368714
resolver
ensp
ENSP00000385746
resolver
genesymbol
SMS
resolver
hgnc
HGNC:11123
resolver
uniprot
A6NHA7
resolver
uniprot
A6NI34
resolver
uniprot
B2R9M0
resolver
uniprot
O00544
resolver
uniprot
Q9UQS1
resolver
uniprot_entry
SPSY_HUMAN
resolver
uniprot_sec
A6NHA7
resolver
uniprot_sec
A6NI34
resolver
uniprot_sec
B2R9M0
resolver
uniprot_sec
O00544
resolver
uniprot_sec
Q9UQS1
resolver
amino_acid_sequence
MAAARHSTLDFMLGAKADGETILKGLQSIFQEQGMAESVHTWQDHGYLATYTNKNGSFANLRIYPHGLVLLDLQSYDGDAQGKEEIDSILNKVEERMKELSQDSTGRVKRLPPIVRGGAIDRYWPTADGRLVEYDIDEVVYDEDSPYQNIKILHSKQFGNILILSGDVNLAESDLAYTRAIMGSGKEDYTGKDVLILGGGDGGILCEIVKLKPKMVTMVEIDQMVIDGCKKYMRKTCGDVLDNLKGDCYQVLIEDCIPVLKRYAKEGREFDYVINDLTAVPISTSPEEDSTWEFLRLILDLSMKVLKQDGKYFTQGNCVNLTEALSLYEEQLGRLYCPVEFSKEIVCVPSYLELWVFYTVWKKAKP
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, X-linked, syndromic, Snyder-Robinson type (MRXSSR) [MIM:309583]: An X-linked intellectual disability syndrome characterized by a collection of clinical features including facial asymmetry, marfanoid habitus, hypertonia, osteoporosis and unsteady gait. {ECO:0000269|PubMed:14508504, ECO:0000269|PubMed:18550699, ECO:0000269|PubMed:19206178, ECO:0000269|PubMed:22612257, ECO:0000269|PubMed:23696453, ECO:0000269|PubMed:23897707}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.5.1.22
uniprot
proteins
function
FUNCTION: Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM). {ECO:0000269|PubMed:18367445, ECO:0000269|PubMed:18550699, ECO:0000269|PubMed:23696453, ECO:0000269|PubMed:23897707}.
uniprot
proteins
mass_dalton
41268
uniprot
proteins
mutagenesis
MUTAGEN 201; /note="D->A,N: 100,000-fold decrease in catalytic efficiency."; /evidence="ECO:0000269|PubMed:18367445"; MUTAGEN 276; /note="D->N: 200,000-fold decrease in catalytic efficiency."; /evidence="ECO:0000269|PubMed:18367445"; MUTAGEN 353; /note="E->Q: 800-fold decrease in catalytic efficiency."; /evidence="ECO:0000269|PubMed:18367445
uniprot
proteins
pathway_participation
PATHWAY: Amine and polyamine biosynthesis; spermine biosynthesis; spermine from spermidine: step 1/1. {ECO:0000269|PubMed:18367445}.
uniprot
proteins
protein_family
Spermidine/spermine synthase family
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
14508504
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
18367445
uniprot
proteins
pubmed
18550699
uniprot
proteins
pubmed
19206178
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22612257
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23696453
uniprot
proteins
pubmed
23897707
uniprot
proteins
pubmed
24680889
uniprot
proteins
pubmed
7546290
uniprot
proteins
pubmed
9299240
uniprot
proteins
sequence_length
366
uniprot
proteins