Details for: SMS

Gene ID: 6611

Symbol: SMS

Ensembl ID: ENSG00000102172

Description: spermine synthase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 301.2629
    Cell Significance Index: -46.8600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 184.9841
    Cell Significance Index: -46.9200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 151.8822
    Cell Significance Index: -62.5700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 131.6395
    Cell Significance Index: -62.1500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 125.4686
    Cell Significance Index: -50.9700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 109.2955
    Cell Significance Index: -56.2200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 93.0744
    Cell Significance Index: -62.4600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 53.4647
    Cell Significance Index: -51.0500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 45.8573
    Cell Significance Index: -56.5400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 19.7509
    Cell Significance Index: -52.9100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 14.9631
    Cell Significance Index: -59.0500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 14.9310
    Cell Significance Index: -45.8600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 10.8224
    Cell Significance Index: 288.9800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.5574
    Cell Significance Index: -16.5400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 5.9520
    Cell Significance Index: 156.5100
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 4.9773
    Cell Significance Index: 39.7400
  • Cell Name: theca cell (CL0000503)
    Fold Change: 4.6996
    Cell Significance Index: 27.6100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 2.6942
    Cell Significance Index: 29.2900
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 2.3179
    Cell Significance Index: 14.2700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 2.0883
    Cell Significance Index: 269.8000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 2.0301
    Cell Significance Index: 95.4200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.8885
    Cell Significance Index: 1031.3700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.8396
    Cell Significance Index: 299.2000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.7679
    Cell Significance Index: 92.8200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.7490
    Cell Significance Index: 130.3500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.6906
    Cell Significance Index: 1526.5200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.5313
    Cell Significance Index: 307.1800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.4688
    Cell Significance Index: 51.0400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.4560
    Cell Significance Index: 171.7100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.3270
    Cell Significance Index: 182.2300
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.0469
    Cell Significance Index: 7.9000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.9187
    Cell Significance Index: 165.6200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.9097
    Cell Significance Index: 24.7600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.8705
    Cell Significance Index: 107.0400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.7245
    Cell Significance Index: 143.7800
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.7049
    Cell Significance Index: 4.3800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.6944
    Cell Significance Index: 307.0000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.6067
    Cell Significance Index: 39.1400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.5779
    Cell Significance Index: 40.8700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5644
    Cell Significance Index: 202.4500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.4892
    Cell Significance Index: 22.8100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.4832
    Cell Significance Index: 14.1900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4283
    Cell Significance Index: 9.2800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.4190
    Cell Significance Index: 8.7700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3976
    Cell Significance Index: 274.9900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3890
    Cell Significance Index: 38.4800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3296
    Cell Significance Index: 17.1200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2924
    Cell Significance Index: 55.6500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2382
    Cell Significance Index: 15.0100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1999
    Cell Significance Index: 9.0600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1938
    Cell Significance Index: 24.8400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.1597
    Cell Significance Index: 3.6900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.1535
    Cell Significance Index: 4.4000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.1493
    Cell Significance Index: 109.4900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1161
    Cell Significance Index: 19.8300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0914
    Cell Significance Index: 5.6200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0912
    Cell Significance Index: 2.5500
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.0828
    Cell Significance Index: 0.5000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0646
    Cell Significance Index: 0.5900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0410
    Cell Significance Index: 77.1600
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.0316
    Cell Significance Index: 0.4000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0072
    Cell Significance Index: -4.5500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0085
    Cell Significance Index: -6.2600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0089
    Cell Significance Index: -16.4500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0100
    Cell Significance Index: -15.4400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0162
    Cell Significance Index: -12.2500
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0197
    Cell Significance Index: -0.2400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0265
    Cell Significance Index: -2.7100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0301
    Cell Significance Index: -40.9100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0315
    Cell Significance Index: -19.6500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0398
    Cell Significance Index: -3.1500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0461
    Cell Significance Index: -0.7900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0692
    Cell Significance Index: -31.3900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0705
    Cell Significance Index: -39.7400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0899
    Cell Significance Index: -2.8800
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.1261
    Cell Significance Index: -2.3300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1273
    Cell Significance Index: -26.8200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1417
    Cell Significance Index: -16.2400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1559
    Cell Significance Index: -44.8700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1839
    Cell Significance Index: -4.9200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1845
    Cell Significance Index: -14.1600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2030
    Cell Significance Index: -29.5100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2744
    Cell Significance Index: -15.4000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2806
    Cell Significance Index: -32.0300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2855
    Cell Significance Index: -33.2700
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.2952
    Cell Significance Index: -4.1400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3159
    Cell Significance Index: -8.4700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3193
    Cell Significance Index: -6.8000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3510
    Cell Significance Index: -23.6000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3582
    Cell Significance Index: -9.1500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.3722
    Cell Significance Index: -25.7400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.5224
    Cell Significance Index: -54.3900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.5708
    Cell Significance Index: -25.2500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.5778
    Cell Significance Index: -9.6700
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: -0.5940
    Cell Significance Index: -3.6800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.6069
    Cell Significance Index: -8.2800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.7143
    Cell Significance Index: -27.0500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.7259
    Cell Significance Index: -21.3800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.7776
    Cell Significance Index: -8.0500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.8257
    Cell Significance Index: -50.6300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Enzyme specificity:** SMS is specific for the condensation of putrescine and ornithine to form spermidine, demonstrating its unique catalytic activity. 2. **High tissue expression:** SMS is highly expressed in the kidney, oocyte, prostate, and placenta, suggesting its crucial role in maintaining cellular homeostasis in these tissues. 3. **Regulation of polyamine biosynthesis:** SMS is a key regulatory enzyme in the polyamine biosynthetic pathway, influencing the levels of spermidine and spermine, which are essential for various cellular processes. 4. **Evolutionary conservation:** SMS is conserved across species, indicating its fundamental importance in maintaining cellular homeostasis. **Pathways and Functions:** 1. **Polyamine biosynthetic pathway:** SMS catalyzes the condensation of putrescine and ornithine to form spermidine, a key intermediate in the polyamine biosynthetic pathway. 2. **Metabolism of amino acids and derivatives:** SMS is involved in the metabolism of amino acids and derivatives, influencing the levels of polyamines and other related compounds. 3. **Metabolism of polyamines:** SMS plays a critical role in regulating the levels of polyamines, which are involved in various cellular processes, including cell growth, differentiation, and survival. 4. **Methionine metabolic process:** SMS is involved in the methionine metabolic process, influencing the levels of polyamines and other related compounds. **Clinical Significance:** 1. **Cancer:** Dysregulation of SMS has been implicated in various cancers, including prostate cancer, where elevated levels of SMS have been associated with tumor progression. 2. **Cardiovascular disease:** SMS has been linked to cardiovascular disease, where dysregulation of polyamine metabolism has been implicated in the development of atherosclerosis and cardiac dysfunction. 3. **Neurodegenerative disorders:** SMS has been implicated in neurodegenerative disorders, including Alzheimer's disease and Parkinson's disease, where dysregulation of polyamine metabolism has been associated with disease progression. 4. **Reproductive health:** SMS is highly expressed in the oocyte, suggesting its crucial role in maintaining reproductive health and fertility. In conclusion, spermine synthase is a vital enzyme involved in polyamine metabolism, with implications for human health. Understanding the mechanisms of SMS and its clinical significance is essential for the development of novel therapeutic strategies for various diseases, including cancer, cardiovascular disease, and neurodegenerative disorders.

Genular Protein ID: 1838614190

Symbol: SPSY_HUMAN

Name: Spermidine aminopropyltransferase

UniProtKB Accession Codes:

P52788 A6NHA7 A6NI34 B2R9M0 O00544 Q9UQS1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 12 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 8 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 6 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 2 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7546290

Title: Molecular cloning of a cDNA encoding human spermine synthase.

PubMed ID: 7546290

DOI: 10.1089/dna.1995.14.841

PubMed ID: 9299240

Title: Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5' region of PEX.

PubMed ID: 9299240

DOI: 10.1006/geno.1997.4876

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12665801

Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

PubMed ID: 12665801

DOI: 10.1038/nbt810

PubMed ID: 14508504

Title: X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.

PubMed ID: 14508504

DOI: 10.1038/sj.ejhg.5201072

PubMed ID: 15592455

Title: Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.

PubMed ID: 15592455

DOI: 10.1038/nbt1046

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 18367445

Title: Crystal structure of human spermine synthase: implications of substrate binding and catalytic mechanism.

PubMed ID: 18367445

DOI: 10.1074/jbc.m710323200

PubMed ID: 18550699

Title: New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.

PubMed ID: 18550699

DOI: 10.1136/jmg.2007.056713

PubMed ID: 19206178

Title: A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.

PubMed ID: 19206178

DOI: 10.1002/ajmg.a.32641

PubMed ID: 22612257

Title: Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

PubMed ID: 22612257

DOI: 10.1111/j.1528-1167.2012.03516.x

PubMed ID: 23897707

Title: Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.

PubMed ID: 23897707

DOI: 10.1002/ajmg.a.36116

PubMed ID: 23696453

Title: A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.

PubMed ID: 23696453

DOI: 10.1093/hmg/ddt229

PubMed ID: 24680889

Title: De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.

PubMed ID: 24680889

DOI: 10.1016/j.ajhg.2014.03.006

Sequence Information:

  • Length: 366
  • Mass: 41268
  • Checksum: D5B23EF61DE66443
  • Sequence:
    • MAAARHSTLD FMLGAKADGE TILKGLQSIF QEQGMAESVH TWQDHGYLAT YTNKNGSFAN 
LRIYPHGLVL LDLQSYDGDA QGKEEIDSIL NKVEERMKEL SQDSTGRVKR LPPIVRGGAI 
DRYWPTADGR LVEYDIDEVV YDEDSPYQNI KILHSKQFGN ILILSGDVNL AESDLAYTRA 
IMGSGKEDYT GKDVLILGGG DGGILCEIVK LKPKMVTMVE IDQMVIDGCK KYMRKTCGDV 
LDNLKGDCYQ VLIEDCIPVL KRYAKEGREF DYVINDLTAV PISTSPEEDS TWEFLRLILD 
LSMKVLKQDG KYFTQGNCVN LTEALSLYEE QLGRLYCPVE FSKEIVCVPS YLELWVFYTV 
WKKAKP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.