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Entry version 178 (16 Oct 2019)
Sequence version 2 (30 May 2000)
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Protein

Spermine synthase

Gene

SMS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: spermine biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes spermine from spermidine.
Proteins known to be involved in this subpathway in this organism are:
  1. Spermine synthase (SMS)
This subpathway is part of the pathway spermine biosynthesis, which is itself part of Amine and polyamine biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes spermine from spermidine, the pathway spermine biosynthesis and in Amine and polyamine biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei148S-adenosylmethioninamine1
Binding sitei177Spermidine1
Binding sitei201Spermidine1
Binding sitei220S-adenosylmethioninamine1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei276Proton acceptorPROSITE-ProRule annotation1
Binding sitei351Spermidine1
Binding sitei353Spermidine1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTransferase
Biological processPolyamine biosynthesis

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS02362-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.5.1.22 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-351202 Metabolism of polyamines

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P52788

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00249;UER00315

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Spermine synthase (EC:2.5.1.22)
Short name:
SPMSY
Alternative name(s):
Spermidine aminopropyltransferase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SMS
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11123 SMS

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300105 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P52788

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by moderate intellectual deficit, hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Transmission is X-linked recessive.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07644956G → S in MRXSSR; a reduced spermine/spermidine ratio is observed in patient lymphoblastoid cells consistent with impaired spermine biosynthesis. 1 PublicationCorresponds to variant dbSNP:rs121434610EnsemblClinVar.1
Natural variantiVAR_07274858F → L in MRXSSR. 1 PublicationCorresponds to variant dbSNP:rs397515549EnsemblClinVar.1
Natural variantiVAR_07645067G → E in MRXSSR; a reduced spermine/spermidine ratio is observed in patient lymphoblastoid cells consistent with impaired spermine biosynthesis. 1 PublicationCorresponds to variant dbSNP:rs397515550EnsemblClinVar.1
Natural variantiVAR_076451132V → G in MRXSSR. 1 PublicationCorresponds to variant dbSNP:rs267607076EnsemblClinVar.1
Natural variantiVAR_076452328Y → C in MRXSSR; mild disease phenotype; a reduced spermine/spermidine ratio is observed in patient lymphoblastoid cells consistent with impaired spermine biosynthesis. 1 PublicationCorresponds to variant dbSNP:rs397515553EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi201D → A or N: 100,000-fold decrease in catalytic efficiency. 1 Publication1
Mutagenesisi276D → N: 200,000-fold decrease in catalytic efficiency. 1 Publication1
Mutagenesisi353E → Q: 800-fold decrease in catalytic efficiency. 1 Publication1

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
6611

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
SMS

MalaCards human disease database

More...
MalaCardsi
SMS
MIMi309583 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000102172

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
3063 X-linked intellectual disability, Snyder type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35972

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P52788

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4934

Drug and drug target database

More...
DrugBanki
DB00127 Spermine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SMS

Domain mapping of disease mutations (DMDM)

More...
DMDMi
8247960

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001565382 – 366Spermine synthaseAdd BLAST365

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei57PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P52788

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P52788

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P52788

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P52788

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P52788

PeptideAtlas

More...
PeptideAtlasi
P52788

PRoteomics IDEntifications database

More...
PRIDEi
P52788

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
56531 [P52788-1]
56532 [P52788-2]

2D gel databases

USC-OGP 2-DE database

More...
OGPi
P52788

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P52788

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P52788

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P52788

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000102172 Expressed in 97 organ(s), highest expression level in frontal cortex

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P52788 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P52788 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA029849
HPA029852

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer. Dimerization is mediated through the N-terminal domain and seems to be required for activity as deletion of the N-terminal domain causes complete loss of activity.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
112495, 46 interactors

Protein interaction database and analysis system

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IntActi
P52788, 20 interactors

Molecular INTeraction database

More...
MINTi
P52788

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000385746

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P52788

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1366
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P52788

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P52788

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini122 – 362PABSPROSITE-ProRule annotationAdd BLAST241

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni255 – 256S-adenosylmethioninamine binding2

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Composed of 3 domains: the N-terminal domain has structural similarity to S-adenosylmethionine decarboxylase, the central domain is made up of four beta strands and the C-terminal domain is similar in structure to spermidine synthase. The N- and C-terminal domains are both required for activity.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1562 Eukaryota
COG0421 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00870000136506

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000007053

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P52788

KEGG Orthology (KO)

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KOi
K00802

Identification of Orthologs from Complete Genome Data

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OMAi
HNWEDHG

Database of Orthologous Groups

More...
OrthoDBi
1477153at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P52788

TreeFam database of animal gene trees

More...
TreeFami
TF324508

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.30.140.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR030374 PABS
IPR030373 PABS_CS
IPR029063 SAM-dependent_MTases
IPR035246 Spermidine_synt_N
IPR037163 Spermidine_synt_N_sf
IPR015576 Spermine_synthase_animal
IPR040900 SpmSyn_N

The PANTHER Classification System

More...
PANTHERi
PTHR46315 PTHR46315, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF17284 Spermine_synt_N, 1 hit
PF17950 SpmSyn_N, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53335 SSF53335, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01330 PABS_1, 1 hit
PS51006 PABS_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P52788-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAARHSTLD FMLGAKADGE TILKGLQSIF QEQGMAESVH TWQDHGYLAT
60 70 80 90 100
YTNKNGSFAN LRIYPHGLVL LDLQSYDGDA QGKEEIDSIL NKVEERMKEL
110 120 130 140 150
SQDSTGRVKR LPPIVRGGAI DRYWPTADGR LVEYDIDEVV YDEDSPYQNI
160 170 180 190 200
KILHSKQFGN ILILSGDVNL AESDLAYTRA IMGSGKEDYT GKDVLILGGG
210 220 230 240 250
DGGILCEIVK LKPKMVTMVE IDQMVIDGCK KYMRKTCGDV LDNLKGDCYQ
260 270 280 290 300
VLIEDCIPVL KRYAKEGREF DYVINDLTAV PISTSPEEDS TWEFLRLILD
310 320 330 340 350
LSMKVLKQDG KYFTQGNCVN LTEALSLYEE QLGRLYCPVE FSKEIVCVPS
360
YLELWVFYTV WKKAKP
Length:366
Mass (Da):41,268
Last modified:May 30, 2000 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD5B23EF61DE66443
GO
Isoform 2 (identifier: P52788-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     57-109: Missing.

Note: Gene prediction confirmed by EST data.
Show »
Length:313
Mass (Da):35,278
Checksum:i7D237FC4CD55D3E6
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C2R7H7C2R7_HUMAN
Spermine synthase
SMS
311Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1M → MPG in CAA88921 (PubMed:7546290).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07644956G → S in MRXSSR; a reduced spermine/spermidine ratio is observed in patient lymphoblastoid cells consistent with impaired spermine biosynthesis. 1 PublicationCorresponds to variant dbSNP:rs121434610EnsemblClinVar.1
Natural variantiVAR_07274858F → L in MRXSSR. 1 PublicationCorresponds to variant dbSNP:rs397515549EnsemblClinVar.1
Natural variantiVAR_07104860N → S1 PublicationCorresponds to variant dbSNP:rs1394834572Ensembl.1
Natural variantiVAR_07645067G → E in MRXSSR; a reduced spermine/spermidine ratio is observed in patient lymphoblastoid cells consistent with impaired spermine biosynthesis. 1 PublicationCorresponds to variant dbSNP:rs397515550EnsemblClinVar.1
Natural variantiVAR_076451132V → G in MRXSSR. 1 PublicationCorresponds to variant dbSNP:rs267607076EnsemblClinVar.1
Natural variantiVAR_076452328Y → C in MRXSSR; mild disease phenotype; a reduced spermine/spermidine ratio is observed in patient lymphoblastoid cells consistent with impaired spermine biosynthesis. 1 PublicationCorresponds to variant dbSNP:rs397515553EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_03440657 – 109Missing in isoform 2. CuratedAdd BLAST53

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
Z49099 mRNA Translation: CAA88921.1
AD001528 mRNA Translation: AAB61308.1
AK313834 mRNA Translation: BAG36567.1
U53331 Genomic DNA Translation: AAD08634.1
U73023 Genomic DNA No translation available.
CH471074 Genomic DNA Translation: EAW98984.1
BC009898 mRNA Translation: AAH09898.1
BC085621 mRNA Translation: AAH85621.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS14203.1 [P52788-1]
CCDS59161.1 [P52788-2]

Protein sequence database of the Protein Information Resource

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PIRi
S54160

NCBI Reference Sequences

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RefSeqi
NP_001245352.1, NM_001258423.1 [P52788-2]
NP_004586.2, NM_004595.4 [P52788-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000379404; ENSP00000368714; ENSG00000102172 [P52788-2]
ENST00000404933; ENSP00000385746; ENSG00000102172 [P52788-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6611

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6611

UCSC genome browser

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UCSCi
uc004dag.5 human [P52788-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z49099 mRNA Translation: CAA88921.1
AD001528 mRNA Translation: AAB61308.1
AK313834 mRNA Translation: BAG36567.1
U53331 Genomic DNA Translation: AAD08634.1
U73023 Genomic DNA No translation available.
CH471074 Genomic DNA Translation: EAW98984.1
BC009898 mRNA Translation: AAH09898.1
BC085621 mRNA Translation: AAH85621.1
CCDSiCCDS14203.1 [P52788-1]
CCDS59161.1 [P52788-2]
PIRiS54160
RefSeqiNP_001245352.1, NM_001258423.1 [P52788-2]
NP_004586.2, NM_004595.4 [P52788-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3C6KX-ray1.95A/B/C/D5-366[»]
3C6MX-ray2.45A/B/C/D5-366[»]
SMRiP52788
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi112495, 46 interactors
IntActiP52788, 20 interactors
MINTiP52788
STRINGi9606.ENSP00000385746

Chemistry databases

BindingDBiP52788
ChEMBLiCHEMBL4934
DrugBankiDB00127 Spermine

PTM databases

iPTMnetiP52788
PhosphoSitePlusiP52788
SwissPalmiP52788

Polymorphism and mutation databases

BioMutaiSMS
DMDMi8247960

2D gel databases

OGPiP52788

Proteomic databases

EPDiP52788
jPOSTiP52788
MassIVEiP52788
MaxQBiP52788
PaxDbiP52788
PeptideAtlasiP52788
PRIDEiP52788
ProteomicsDBi56531 [P52788-1]
56532 [P52788-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
6611

Genome annotation databases

EnsembliENST00000379404; ENSP00000368714; ENSG00000102172 [P52788-2]
ENST00000404933; ENSP00000385746; ENSG00000102172 [P52788-1]
GeneIDi6611
KEGGihsa:6611
UCSCiuc004dag.5 human [P52788-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6611
DisGeNETi6611

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SMS
GeneReviewsiSMS
HGNCiHGNC:11123 SMS
HPAiHPA029849
HPA029852
MalaCardsiSMS
MIMi300105 gene
309583 phenotype
neXtProtiNX_P52788
OpenTargetsiENSG00000102172
Orphaneti3063 X-linked intellectual disability, Snyder type
PharmGKBiPA35972

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1562 Eukaryota
COG0421 LUCA
GeneTreeiENSGT00870000136506
HOGENOMiHOG000007053
InParanoidiP52788
KOiK00802
OMAiHNWEDHG
OrthoDBi1477153at2759
PhylomeDBiP52788
TreeFamiTF324508

Enzyme and pathway databases

UniPathwayiUPA00249;UER00315
BioCyciMetaCyc:HS02362-MONOMER
BRENDAi2.5.1.22 2681
ReactomeiR-HSA-351202 Metabolism of polyamines
SABIO-RKiP52788

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SMS human
EvolutionaryTraceiP52788

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SMS_(gene)

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
6611
PharosiP52788

Protein Ontology

More...
PROi
PR:P52788

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000102172 Expressed in 97 organ(s), highest expression level in frontal cortex
ExpressionAtlasiP52788 baseline and differential
GenevisibleiP52788 HS

Family and domain databases

Gene3Di2.30.140.10, 1 hit
InterProiView protein in InterPro
IPR030374 PABS
IPR030373 PABS_CS
IPR029063 SAM-dependent_MTases
IPR035246 Spermidine_synt_N
IPR037163 Spermidine_synt_N_sf
IPR015576 Spermine_synthase_animal
IPR040900 SpmSyn_N
PANTHERiPTHR46315 PTHR46315, 1 hit
PfamiView protein in Pfam
PF17284 Spermine_synt_N, 1 hit
PF17950 SpmSyn_N, 1 hit
SUPFAMiSSF53335 SSF53335, 1 hit
PROSITEiView protein in PROSITE
PS01330 PABS_1, 1 hit
PS51006 PABS_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSPSY_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P52788
Secondary accession number(s): A6NHA7
, A6NI34, B2R9M0, O00544, Q9UQS1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 30, 2000
Last modified: October 16, 2019
This is version 178 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  7. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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