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Tchem Spermine synthase

Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM).

This gene encodes a protein belonging to the spermidine/spermin synthase family and catalyzes the production of spermine from spermidine. Pseudogenes of this gene are located on chromosomes 1, 5, 6 and X. Mutations in this gene cause an X-linked intellectual disability called Snyder-Robinson Syndrome (SRS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

 Comments

Property Summary

Ligand Count 2
NCBI Gene PubMed Count 27
PubMed Score 28.56
PubTator Score 53.51

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count Z-score Confidence
Arthritis, Rheumatoid 174 0.0 0.0
Snyder Robinson syndrome 1 0.0 0.0
Disease Target Count
Auricular malformation 41
Bipolar Disorder 666
Bipolar II disorder 1
Broad-based gait 19
Class III malocclusion 78
Cleft Palate 271
Cleft uvula 27
Congenital clubfoot 109
Congenital pectus carinatum 52
Cryptorchidism 296
Decreased muscle mass 28
Dull intelligence 645
Dysarthria 192
Epilepsy 792
Facial asymmetry 32
Frequent fractures 53
Full lower lip 64
High, narrow palate 32
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hyperextensible digits 7
Hypernasal voice 39
Hypertrophy of lower jaw 78
Inadequate arch length for tooth size 45
Increased fracture rate 53
Increased size of mandible 78
Intellectual disability 1016
Kyphoscoliosis deformity of spine 60
Long fingers 9
Long hallux 5
Long palm 1
Low intelligence 645
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 1
Mandibular hyperplasia 78
Mental Retardation 645
Mental deficiency 645
Mood Disorders 184
Muscle hypotonia 571
Narrow hands 6
Nasal voice 39
Neck webbing 35
Orbital separation excessive 244
Osteoporosis 363
Pectus excavatum 100
Phenotypic variability 150
Poor school performance 645
Prominent lower lip 64
Rheumatoid arthritis 1191
Seizures 596
Severe myopia 22
Short philtrum 53
Short stature 531
Simple ear 41
Tall stature 34
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Uranostaphyloschisis 167
Varying degree of multiple fractures 53
Wide spaced nipples 46
X- linked recessive 110
mandibular excess (physical finding) 78
Disease Target Count Z-score Confidence
Secondary progressive multiple sclerosis 10 4.557 2.3

Expression

Synonym

Accession P52788 A6NHA7 A6NI34 B2R9M0 O00544 Q9UQS1 SPMSY
Symbols SRS
SpS
MRSR
SPMSY

Gene

SMS

  Ortholog (14)

Species Source Disease
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA
Inparanoid OMA EggNOG
OMA EggNOG
OMA EggNOG
OMA EggNOG
Inparanoid OMA EggNOG
OMA EggNOG
OMA EggNOG
OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid EggNOG

 UniProt Keyword (11)

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 GO Function (1)

 GO Component (2)

 GO Process (3)

 Compartment GO Term (9)

 IMPC Phenotype (9)

 OMIM Phenotype (2)

 MGI Phenotype (9)

 HCA RNA Cell Line (56)

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Pathway (15)

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PDB (2)

Ligand (2)

Structure of CHEMBL330673

CHEMBL330673
pIC50 7.30

Structure of CHEMBL315995

CHEMBL315995
pIC50 7.70

Gene RIF (12)

AA Sequence 

MAAARHSTLDFMLGAKADGETILKGLQSIFQEQGMAESVHTWQDHGYLATYTNKNGSFANLRIYPHGLVL      1 - 70
LDLQSYDGDAQGKEEIDSILNKVEERMKELSQDSTGRVKRLPPIVRGGAIDRYWPTADGRLVEYDIDEVV     71 - 140
YDEDSPYQNIKILHSKQFGNILILSGDVNLAESDLAYTRAIMGSGKEDYTGKDVLILGGGDGGILCEIVK    141 - 210
LKPKMVTMVEIDQMVIDGCKKYMRKTCGDVLDNLKGDCYQVLIEDCIPVLKRYAKEGREFDYVINDLTAV    211 - 280
PISTSPEEDSTWEFLRLILDLSMKVLKQDGKYFTQGNCVNLTEALSLYEEQLGRLYCPVEFSKEIVCVPS    281 - 350
YLELWVFYTVWKKAKP                                                          351 - 366
//

Text Mined References (33)

PMID Year Title