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UniProtKB - Q16637 (SMN_HUMAN)

Entry version 233 (25 May 2022)
Sequence version 1 (01 Nov 1996)
Previous versions | rss
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Protein

Survival motor neuron protein

Gene

SMN1

more
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

The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs (PubMed:9845364, PubMed:18984161).

Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP (Sm core) (PubMed:18984161).

In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP (PubMed:18984161).

To assemble core snRNPs, the SMN complex accepts the trapped 5Sm proteins from CLNS1A forming an intermediate (PubMed:18984161).

Within the SMN complex, SMN1 acts as a structural backbone and together with GEMIN2 it gathers the Sm complex subunits (PubMed:21816274, PubMed:22101937, PubMed:17178713).

Binding of snRNA inside 5Sm ultimately triggers eviction of the SMN complex, thereby allowing binding of SNRPD3 and SNRPB to complete assembly of the core snRNP (PubMed:31799625).

Ensures the correct splicing of U12 intron-containing genes that may be important for normal motor and proprioceptive neurons development (PubMed:23063131).

Also required for resolving RNA-DNA hybrids created by RNA polymerase II, that form R-loop in transcription terminal regions, an important step in proper transcription termination (PubMed:26700805).

May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).

8 Publications

Miscellaneous

The SMN gene is present in two highly homologous and functional copies (TelSMN/SMN1 and CenSMN/SMN2). The telomeric copy of SMN gene (TelSMN/SMN1) seems to be the SMA-determining gene while the centromeric copy seems unaffected.

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionRNA-binding
Biological processmRNA processing, mRNA splicing, Neurogenesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q16637

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-191859, snRNP Assembly

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q16637

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q16637

<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%5Fand%5Ftaxonomy%5Fsection">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:
Survival motor neuron protein
Alternative name(s):
Component of gems 1
Gemin-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:SMN1
Synonyms:SMN, SMNT
AND
Name:SMN2
Synonyms:SMNC
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 5

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:11117, SMN1
HGNC:11118, SMN2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600354, gene
601627, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q16637

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000172062
HostDB:ENSG00000205571

<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

Keywords - Cellular componenti

Cell projection, Cytoplasm, Nucleus

<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

Spinal muscular atrophy 1 (SMA1)11 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of spinal muscular atrophy, a group of neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Autosomal recessive forms are classified according to the age of onset, the maximum muscular activity achieved, and survivorship. The severity of the disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amount of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is a severe form, with onset before 6 months of age. SMA1 patients never achieve the ability to sit.
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_034807116I → F in SMA1; abolishes the interaction with ELAVL4. 2 PublicationsCorresponds to variant dbSNP:rs104893933EnsemblClinVar.1
Natural variantiVAR_034808136Q → E in SMA1; abolishes the interaction with ELAVL4. 2 PublicationsCorresponds to variant dbSNP:rs104893934EnsemblClinVar.1
Natural variantiVAR_005617272Y → C in SMA1; abolishes SMN1 binding to RPP20/POP7 and severely impairs binding to SNRPB, GEMIN8 and homooligomerization. 7 PublicationsCorresponds to variant dbSNP:rs104893922EnsemblClinVar.1
Natural variantiVAR_005620279G → V in SMA1; slightly reduces SMN binding to RPP20/POP7. Impairs homooligomerization and axon localization. 4 PublicationsCorresponds to variant dbSNP:rs76163360EnsemblClinVar.1
Spinal muscular atrophy 2 (SMA2)5 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. It has intermediate severity, with onset between 6 and 18 months. Patients do not reach the motor milestone of standing, and survive into adulthood.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0056152A → G in SMA2 and SMA3. 1 PublicationCorresponds to variant dbSNP:rs75030631Ensembl.1
Natural variantiVAR_03480330D → N in SMA2. 1 PublicationCorresponds to variant dbSNP:rs104893930EnsemblClinVar.1
Natural variantiVAR_034806111A → G in SMA2; reduces SMN binding to Sm proteins; abolishes the interaction with ELAVL4. 2 PublicationsCorresponds to variant dbSNP:rs104893935EnsemblClinVar.1
Natural variantiVAR_005618274T → I in SMA2 and SMA3; Impairs SMN1 binding to RPP20/POP7, GEMIN8 and homooligomerization. 5 PublicationsCorresponds to variant dbSNP:rs76871093Ensembl.1
Natural variantiVAR_007990279G → C in SMA2 and SMA3. 1 PublicationCorresponds to variant dbSNP:rs77969175Ensembl.1
Spinal muscular atrophy 3 (SMA3)5 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Onset is after 18 months. Patients develop ability to stand and walk and survive into adulthood.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0056152A → G in SMA2 and SMA3. 1 PublicationCorresponds to variant dbSNP:rs75030631Ensembl.1
Natural variantiVAR_03480444D → V in SMA3; impairs GEMIN2 binding. 2 PublicationsCorresponds to variant dbSNP:rs104893931EnsemblClinVar.1
Natural variantiVAR_03480595G → R in SMA3; reduces SMN binding to Sm proteins. 1 PublicationCorresponds to variant dbSNP:rs104893927EnsemblClinVar.1
Natural variantiVAR_010051245P → L in SMA3. 1 PublicationCorresponds to variant dbSNP:rs75586164Ensembl.1
Natural variantiVAR_034809262S → G in SMA3. 1 PublicationCorresponds to variant dbSNP:rs104893932EnsemblClinVar.1
Natural variantiVAR_005616262S → I in SMA3; slightly reduces SMN binding to RPP20/POP7. 2 PublicationsCorresponds to variant dbSNP:rs75660264Ensembl.1
Natural variantiVAR_005618274T → I in SMA2 and SMA3; Impairs SMN1 binding to RPP20/POP7, GEMIN8 and homooligomerization. 5 PublicationsCorresponds to variant dbSNP:rs76871093Ensembl.1
Natural variantiVAR_005619275G → S in SMA3; impairs homooligomerization.. 2 PublicationsCorresponds to variant dbSNP:rs77301881Ensembl.1
Natural variantiVAR_007990279G → C in SMA2 and SMA3. 1 PublicationCorresponds to variant dbSNP:rs77969175Ensembl.1
Spinal muscular atrophy 4 (SMA4)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Onset is in adulthood, disease progression is slow, and patients can stand and walk.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi34W → A: Impairs GEMIN2 binding. 1 Publication1
Mutagenesisi39L → A: Impairs GEMIN2 binding. 1 Publication1
Mutagenesisi43Y → A: Impairs GEMIN2 binding. 1 Publication1
Mutagenesisi44D → A: Impairs GEMIN2 binding. 1 Publication1
Mutagenesisi46A → N: Impairs GEMIN2 binding. 1 Publication1
Mutagenesisi92W → S: Impairs binding to substrate containing dimethylated arginine. 1 Publication1
Mutagenesisi102W → L or V: Impairs binding to substrate containing dimethylated arginine. 1 Publication1
Mutagenesisi109Y → H: Impairs binding to substrate containing dimethylated arginine. 1 Publication1
Mutagenesisi127Y → L or F: Impairs binding to substrate containing dimethylated arginine. 1 Publication1
Mutagenesisi130Y → D: Impairs binding to substrate containing dimethylated arginine. 1 Publication1
Mutagenesisi132N → D or S: Impairs binding to substrate containing dimethylated arginine. 1 Publication1
Mutagenesisi134 – 136EEQ → SEV: Impairs binding to substrate containing dimethylated arginine. 1 Publication3
Mutagenesisi134E → K: Impairs SMN binding to RPP20/POP7. Abolishes the interaction with ELAVL4. Abolishes interaction with SNRPD1 and SNRPD3. Impairs binding to substrate containing dimethylated arginine. 6 Publications1
Mutagenesisi136Q → E: Impairs binding to substrate containing dimethylated arginine. 1 Publication1
Mutagenesisi260L → S: Impairs homooligomerization. 1 Publication1
Mutagenesisi263M → R, T or A: Impairs homooligomerization and GEMIN8 binding. 2 Publications1
Mutagenesisi264L → A: Impairs homooligomerization. 1 Publication1
Mutagenesisi266S → P: Impairs homooligomerization and GEMIN8 binding. 2 Publications1
Mutagenesisi267W → A: Impairs homooligomerization. 1 Publication1
Mutagenesisi268Y → A: Impairs homooligomerization. 1 Publication1
Mutagenesisi271G → A: Impairs homooligomerization. 1 Publication1
Mutagenesisi272Y → A: Impairs homooligomerization. 1 Publication1
Mutagenesisi273H → R: Impairs GEMIN8 binding. 1 Publication1
Mutagenesisi274T → A: Impairs homooligomerization. 1 Publication1
Mutagenesisi275G → A: Impairs homooligomerization. 1 Publication1
Mutagenesisi279G → E: Impairs homooligomerization. 1 Publication1

Keywords - Diseasei

Disease variant, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		6606
6607

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

More...GeneReviewsi		SMN1
SMN2

MalaCards human disease database

More...MalaCardsi		SMN1
SMN2
MIMi253300, phenotype
253400, phenotype
253550, phenotype
271150, phenotype

Open Targets

More...OpenTargetsi		ENSG00000172062
ENSG00000205571

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

More...Orphaneti		83330, Proximal spinal muscular atrophy type 1
83418, Proximal spinal muscular atrophy type 2
83419, Proximal spinal muscular atrophy type 3
83420, Proximal spinal muscular atrophy type 4

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35967

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q16637, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1293232

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SMN1

Domain mapping of disease mutations (DMDM)

More...DMDMi		2498924

<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%5Fprocessing%5Fsection">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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002189032 – 294Survival motor neuron proteinAdd BLAST293

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 residuei4Phosphoserine; by PKACombined sources1 Publication1
Modified residuei5Phosphoserine; by PKACombined sources1 Publication1
Modified residuei8Phosphoserine; by PKACombined sources1 Publication1
Modified residuei25PhosphothreonineCombined sources1
Modified residuei28PhosphoserineCombined sources1
Modified residuei31PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki51Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei69PhosphothreonineCombined sources1
Modified residuei85Phosphothreonine; by PKA1 Publication1
Modified residuei187Phosphoserine; by PKA1 Publication1
Cross-linki209Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q16637

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q16637

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q16637

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q16637

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

More...PaxDbi		Q16637

PeptideAtlas

More...PeptideAtlasi		Q16637

PRoteomics IDEntifications database

More...PRIDEi		Q16637

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		60992 [Q16637-1]
60993 [Q16637-2]
60994 [Q16637-3]
60995 [Q16637-4]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q16637, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q16637

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

More...PhosphoSitePlusi		Q16637

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in a wide variety of tissues. Expressed at high levels in brain, kidney and liver, moderate levels in skeletal and cardiac muscle, and low levels in fibroblasts and lymphocytes. Also seen at high levels in spinal cord. Present in osteoclasts and mononuclear cells (at protein level).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000172062, Expressed in ventricular zone and 113 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q16637, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q16637, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000172062, Low tissue specificity
ENSG00000205571, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homooligomer; may form higher order homooligomers in the dimer to octamer range (PubMed:26092730, PubMed:10500148, PubMed:14715275, PubMed:21816274, PubMed:17178713, PubMed:23022347). Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP (PubMed:9323129, PubMed:17178713). Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG (PubMed:12065586, PubMed:18984161).

Component of an import snRNP complex composed of KPNB1, RNUT1, SMN1 and ZNF259 (PubMed:12095920).

Interacts with DDX20, FBL, NOLA1, RNUT1, SYNCRIP and with several spliceosomal snRNP core Sm proteins, including SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE and ILF3 (PubMed:11574476, PubMed:12095920, PubMed:10500148).

Interacts with GEMIN2; the interaction is direct (PubMed:26092730, PubMed:10500148, PubMed:21816274, PubMed:31799625, PubMed:17178713, PubMed:22607171, PubMed:23022347).

Interacts with GEMIN3; the interaction is direct (PubMed:17178713).

Interacts with GEMIN8; the interaction is direct (PubMed:33754639, PubMed:17178713).

Interacts with SNRPB; the interaction is direct (PubMed:10500148).

Interacts (via Tudor domain) with SNRPD1 (via C-terminus); the interaction is direct (PubMed:10500148, PubMed:11135666).

Interacts with SNRPD2; the interaction is direct (PubMed:10500148).

Interacts (via Tudor domain) with SNRPD3 (via C-terminus); the interaction is direct (PubMed:10500148, PubMed:11135666, PubMed:22101937, PubMed:12628254).

Interacts with SNRPE; the interaction is direct (PubMed:10500148).

Interacts with OSTF1, LSM10, LSM11 and RPP20/POP7 (PubMed:11551898, PubMed:12975319, PubMed:16087681, PubMed:14715275).

Interacts (via C-terminal region) with ZPR1 (via C-terminal region) (PubMed:11283611).

Interacts (via Tudor domain) with COIL (PubMed:11641277).

Interacts with SETX; recruits SETX to POLR2A (PubMed:21700224, PubMed:26700805).

Interacts with POLR2A (via the C-terminal domain (CTD)) (PubMed:26700805).

Interacts with PRMT5 (PubMed:26700805).

Interacts with XRN2 (PubMed:26700805).

Interacts (via C-terminus) with FMR1 (via C-terminus); the interaction is direct and occurs in a RNA-independent manner (PubMed:18093976).

Interacts (via Tudor domain) with SF3B2 ('Arg-508'-methylated form) (PubMed:25737013).

Interacts with WRAP53/TCAB1 (PubMed:21072240).

Interacts (via Tudor domain) with ELAVL4 in an RNA-independent manner; the interaction is required for localization of ELAVL4 to RNA granules (PubMed:21088113, PubMed:21389246, PubMed:29061699).

Interacts with FRG1 (PubMed:17103222).

29 Publications

Does not homooligomerize (PubMed:10500148). Does not interact with SNRPB (PubMed:10500148).

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q16637
With#Exp.IntAct
ABHD17C [Q6PCB6]3EBI-395421,EBI-22011868
APIP [Q96GX9]3EBI-395421,EBI-359248
ASB9 [Q96DX5]3EBI-395421,EBI-745641
ATL1 [Q8WXF7]3EBI-395421,EBI-2410266
BLOC1S6 [Q9UL45]6EBI-395421,EBI-465781
BYSL [Q13895]8EBI-395421,EBI-358049
CHMP6 [Q96FZ7]3EBI-395421,EBI-1049648
CHTOP [Q9Y3Y2]3EBI-395421,EBI-347794
CHTOP - isoform 2 [Q9Y3Y2-3]3EBI-395421,EBI-11984237
COIL [P38432]4EBI-395421,EBI-945751
DAZ3 - isoform 2 [Q9NR90-2]3EBI-395421,EBI-25830216
DDX20 [Q9UHI6]10EBI-395421,EBI-347658
EHHADH [Q08426]3EBI-395421,EBI-2339219
ERAL1 [O75616]3EBI-395421,EBI-6393536
FAM9B [Q8IZU0]8EBI-395421,EBI-10175124
FEZ2 [Q9UHY8]3EBI-395421,EBI-396453
FNDC11 [Q9BVV2]3EBI-395421,EBI-744935
FOXR1 [Q6PIV2]3EBI-395421,EBI-10253815
FYN - isoform 3 [P06241-3]3EBI-395421,EBI-10691738
GEMIN2 [O14893]20EBI-395421,EBI-443648
GEMIN5 [Q8TEQ6]7EBI-395421,EBI-443630
HNRNPLL - isoform 3 [Q8WVV9-3]3EBI-395421,EBI-25845242
HNRNPUL1 [Q9BUJ2]4EBI-395421,EBI-1018153
HOXC4 [P09017]3EBI-395421,EBI-3923226
IQSEC1 - isoform 2 [Q6DN90-2]3EBI-395421,EBI-21911304
IQUB [Q8NA54]6EBI-395421,EBI-10220600
KPNB1 - isoform 1 [Q14974-1]2EBI-395421,EBI-15488647
KRTAP13-3 [Q3SY46]3EBI-395421,EBI-10241252
KRTAP19-1 [Q8IUB9]3EBI-395421,EBI-12811111
KRTAP19-5 [Q3LI72]3EBI-395421,EBI-1048945
KRTAP19-6 [Q3LI70]3EBI-395421,EBI-12805508
KRTAP19-7 [Q3SYF9]6EBI-395421,EBI-10241353
KRTAP21-2 [Q3LI59]3EBI-395421,EBI-18395721
KRTAP6-1 [Q3LI64]3EBI-395421,EBI-12111050
KRTAP6-2 [Q3LI66]5EBI-395421,EBI-11962084
KRTAP8-1 [Q8IUC2]3EBI-395421,EBI-10261141
MAGED1 [Q9Y5V3]3EBI-395421,EBI-716006
MAP3K5 [Q99683]3EBI-395421,EBI-476263
MAPK11 [Q15759]3EBI-395421,EBI-298304
MBD2 [Q9UBB5]2EBI-395421,EBI-923391
MGARP [Q8TDB4]3EBI-395421,EBI-4397720
MSH5 - isoform 2 [O43196-2]3EBI-395421,EBI-25844576
NDFIP2 [Q9NV92]3EBI-395421,EBI-2933200
NXT2 - isoform 3 [Q9NPJ8-3]3EBI-395421,EBI-10698339
PIAS1 [O75925]3EBI-395421,EBI-629434
POLR1C [O15160]6EBI-395421,EBI-1055079
POLR2A [P24928]12EBI-395421,EBI-295301
POP7 [O75817]5EBI-395421,EBI-366574
PPIG [Q13427]4EBI-395421,EBI-396072
PRPF39 [Q86UA1]3EBI-395421,EBI-2803203
RAB38 [P57729]3EBI-395421,EBI-6552718
SETX [Q7Z333]3EBI-395421,EBI-1220123
SF3B2 [Q13435]4EBI-395421,EBI-749111
SGSM1 - isoform 3 [Q2NKQ1-4]3EBI-395421,EBI-10182463
SMARCB1 [Q12824]3EBI-395421,EBI-358419
itself21EBI-395421,EBI-395421
SMN2 - isoform SMN-delta7 [Q16637-3]3EBI-395421,EBI-395447
SNRNP70 [P08621]5EBI-395421,EBI-1049228
SNRPD1 [P62314]6EBI-395421,EBI-372177
SNU13 [P55769]3EBI-395421,EBI-712228
SNX2 [O60749]3EBI-395421,EBI-1046690
SPANXN2 [Q5MJ10]3EBI-395421,EBI-12023934
SPATA12 [Q7Z6I5]3EBI-395421,EBI-10696971
TAGLN2 [P37802]3EBI-395421,EBI-1056740
TRNAU1AP - isoform 2 [Q9NX07-2]3EBI-395421,EBI-21894090
TSNAX [Q99598]3EBI-395421,EBI-742638
VPS28 [Q548N1]3EBI-395421,EBI-10243107
VPS28 [Q9UK41]5EBI-395421,EBI-727424
WRAP53 [Q9BUR4]5EBI-395421,EBI-2563542
Smn [Q9VV74] from Drosophila melanogaster.2EBI-395421,EBI-185315
A0A142I5B9 from Zika virus (isolate ZIKV/Human/Cambodia/FSS13025/2010).2EBI-395421,EBI-20625235
Isoform SMN-delta5 [Q16637-2]
With#Exp.IntAct
GEMIN2 [O14893]4EBI-16014970,EBI-443648
SMN2 - isoform SMN-delta7 [Q16637-3]
With#Exp.IntAct
A2M [P01023]3EBI-395447,EBI-640741
DNM2 - isoform 2 [P50570-2]3EBI-395447,EBI-10968534
GDAP1 [Q8TB36]3EBI-395447,EBI-11110431
HTRA2 [O43464]3EBI-395447,EBI-517086
HTT [P42858]9EBI-395447,EBI-466029
KPNB1 [Q14974]5EBI-395447,EBI-286758
MECP2 [P51608]3EBI-395447,EBI-1189067
SNRPB - isoform SM-B' [P14678-1]3EBI-395447,EBI-372471
VPS28 [Q9UK41]3EBI-395447,EBI-727424

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112490, 274 interactors
112491, 78 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-6031, SMN complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q16637

Database of interacting proteins

More...DIPi		DIP-31309N

Protein interaction database and analysis system

More...IntActi		Q16637, 245 interactors

Molecular INTeraction database

More...MINTi		Q16637

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000370083

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q16637

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q16637, protein

<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

1294
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q16637

Biological Magnetic Resonance Data Bank

More...BMRBi		Q16637

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

More...SMRi		Q16637

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		Q16637

<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%5Fand%5Fdomains%5Fsection">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>Domaini91 – 151TudorPROSITE-ProRule annotationAdd BLAST61

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>Regioni1 – 32DisorderedSequence analysisAdd BLAST32
Regioni26 – 51Interacts with GEMIN23 PublicationsAdd BLAST26
Regioni59 – 88DisorderedSequence analysisAdd BLAST30
Regioni97 – 209Required for interaction with RPP20/POP7Add BLAST113
Regioni156 – 222DisorderedSequence analysisAdd BLAST67
Regioni240 – 267P2 (binding site for SNRPB)Add BLAST28
Regioni252 – 280Involved in homooligomerization6 PublicationsAdd BLAST29
Regioni279 – 294Required for interaction with SYNCRIP1 PublicationAdd BLAST16

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi156 – 187Polar residuesSequence analysisAdd BLAST32
Compositional biasi190 – 222Pro residuesSequence analysisAdd BLAST33

<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

The Tudor domain mediates association with dimethylarginines, which are common in snRNP proteins.3 Publications

<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

Belongs to the SMN family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4327, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153352

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_077852_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q16637

Identification of Orthologs from Complete Genome Data

More...OMAi		LMAWYMS

Database of Orthologous Groups

More...OrthoDBi		1316275at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q16637

TreeFam database of animal gene trees

More...TreeFami		TF318390

Family and domain databases

Conserved Domains Database

More...CDDi		cd04508, TUDOR, 1 hit

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00569

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR010304, SMN_Tudor
IPR002999, Tudor

Pfam protein domain database

More...Pfami		View protein in Pfam
PF06003, SMN, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00333, TUDOR, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50304, TUDOR, 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%5Flength">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 (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 4 <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
Note: Experimental confirmation may be lacking for some isoforms.

This entry has 4 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform SMN (identifier: Q16637-1) [UniParc]FASTAAdd to basket
Also known as: Full-SMN

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MAMSSGGSGG GVPEQEDSVL FRRGTGQSDD SDIWDDTALI KAYDKAVASF 
        60         70         80         90        100
KHALKNGDIC ETSGKPKTTP KRKPAKKNKS QKKNTAASLQ QWKVGDKCSA 
       110        120        130        140        150
IWSEDGCIYP ATIASIDFKR ETCVVVYTGY GNREEQNLSD LLSPICEVAN 
       160        170        180        190        200
NIEQNAQENE NESQVSTDES ENSRSPGNKS DNIKPKSAPW NSFLPPPPPM 
       210        220        230        240        250
PGPRLGPGKP GLKFNGPPPP PPPPPPHLLS CWLPPFPSGP PIIPPPPPIC 
       260        270        280        290 
PDSLDDADAL GSMLISWYMS GYHTGYYMGF RQNQKEGRCS HSLN
Note: Primarily derived from SMN1 gene.
Length:294
Mass (Da):31,849
Last modified:November 1, 1996 - v1
<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:i8A9A2A94192DCB9B
GO
Isoform SMN-delta5 (identifier: Q16637-2) [UniParc]FASTAAdd to basket
Also known as: Iso5-SMN

The sequence of this isoform differs from the canonical sequence as follows:
     210-241: Missing.

Show »
Length:262
Mass (Da):28,534
Checksum:iA93E61C77B59FFFC
GO
Isoform SMN-delta7 (identifier: Q16637-3) [UniParc]FASTAAdd to basket
Also known as: Iso7-SMN

The sequence of this isoform differs from the canonical sequence as follows:
     279-282: GFRQ → EMLA
     283-294: Missing.

Note: Thought to be a non-functional protein that lacks the capacity to oligomerize and thus cannot interact with Sm proteins. Primarily derived from SMN2 gene.1 Publication
Show »
Length:282
Mass (Da):30,450
Checksum:iD79F1C206C884461
GO
Isoform SMN-delta57 (identifier: Q16637-4) [UniParc]FASTAAdd to basket
Also known as: Iso57-SMN

The sequence of this isoform differs from the canonical sequence as follows:
     210-241: Missing.
     279-282: GFRQ → EMLA
     283-294: Missing.

Show »
Length:250
Mass (Da):27,135
Checksum:i6F2EF8FE7D1E4033
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 are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EQZ4E7EQZ4_HUMAN
Survival motor neuron protein
SMN1 SMN2
294Annotation score:

Annotation score:2 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>
A0A1W2PRV5A0A1W2PRV5_HUMAN
Survival motor neuron protein
SMN2
282Annotation score:

Annotation score:2 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>
A0A0G2JQN8A0A0G2JQN8_HUMAN
Survival motor neuron protein
SMN1
149Annotation score:

Annotation score:2 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>
A0A0G2JRX5A0A0G2JRX5_HUMAN
Survival motor neuron protein
SMN1
143Annotation score:

Annotation score:2 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>
A0A0G2JRY6A0A0G2JRY6_HUMAN
Survival motor neuron protein
SMN1
180Annotation score:

Annotation score:2 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>
B4DP61B4DP61_HUMAN
Survival motor neuron protein
SMN1 SMN2
227Annotation score:

Annotation score:2 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>
H0YBZ9H0YBZ9_HUMAN
Survival motor neuron protein
SMN2 SMN1
79Annotation 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>
U3KPX7U3KPX7_HUMAN
Survival motor neuron protein
SMN2
46Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0056152A → G in SMA2 and SMA3. 1 PublicationCorresponds to variant dbSNP:rs75030631Ensembl.1
Natural variantiVAR_03480330D → N in SMA2. 1 PublicationCorresponds to variant dbSNP:rs104893930EnsemblClinVar.1
Natural variantiVAR_03480444D → V in SMA3; impairs GEMIN2 binding. 2 PublicationsCorresponds to variant dbSNP:rs104893931EnsemblClinVar.1
Natural variantiVAR_03480595G → R in SMA3; reduces SMN binding to Sm proteins. 1 PublicationCorresponds to variant dbSNP:rs104893927EnsemblClinVar.1
Natural variantiVAR_034806111A → G in SMA2; reduces SMN binding to Sm proteins; abolishes the interaction with ELAVL4. 2 PublicationsCorresponds to variant dbSNP:rs104893935EnsemblClinVar.1
Natural variantiVAR_034807116I → F in SMA1; abolishes the interaction with ELAVL4. 2 PublicationsCorresponds to variant dbSNP:rs104893933EnsemblClinVar.1
Natural variantiVAR_034808136Q → E in SMA1; abolishes the interaction with ELAVL4. 2 PublicationsCorresponds to variant dbSNP:rs104893934EnsemblClinVar.1
Natural variantiVAR_010051245P → L in SMA3. 1 PublicationCorresponds to variant dbSNP:rs75586164Ensembl.1
Natural variantiVAR_034809262S → G in SMA3. 1 PublicationCorresponds to variant dbSNP:rs104893932EnsemblClinVar.1
Natural variantiVAR_005616262S → I in SMA3; slightly reduces SMN binding to RPP20/POP7. 2 PublicationsCorresponds to variant dbSNP:rs75660264Ensembl.1
Natural variantiVAR_005617272Y → C in SMA1; abolishes SMN1 binding to RPP20/POP7 and severely impairs binding to SNRPB, GEMIN8 and homooligomerization. 7 PublicationsCorresponds to variant dbSNP:rs104893922EnsemblClinVar.1
Natural variantiVAR_005618274T → I in SMA2 and SMA3; Impairs SMN1 binding to RPP20/POP7, GEMIN8 and homooligomerization. 5 PublicationsCorresponds to variant dbSNP:rs76871093Ensembl.1
Natural variantiVAR_005619275G → S in SMA3; impairs homooligomerization.. 2 PublicationsCorresponds to variant dbSNP:rs77301881Ensembl.1
Natural variantiVAR_007990279G → C in SMA2 and SMA3. 1 PublicationCorresponds to variant dbSNP:rs77969175Ensembl.1
Natural variantiVAR_005620279G → V in SMA1; slightly reduces SMN binding to RPP20/POP7. Impairs homooligomerization and axon localization. 4 PublicationsCorresponds to variant dbSNP:rs76163360EnsemblClinVar.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_006183210 – 241Missing in isoform SMN-delta5 and isoform SMN-delta57. CuratedAdd BLAST32
Alternative sequenceiVSP_006184279 – 282GFRQ → EMLA in isoform SMN-delta7 and isoform SMN-delta57. 2 Publications4
Alternative sequenceiVSP_006185283 – 294Missing in isoform SMN-delta7 and isoform SMN-delta57. 2 PublicationsAdd BLAST12

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
U43883 U43882 Genomic DNA Translation: AAC50473.1
U18423 mRNA Translation: AAA66242.1
U80017 Genomic DNA Translation: AAC52048.1
AK289669 mRNA Translation: BAF82358.1
AC004999 Genomic DNA Translation: AAC83178.1
AC005031 Genomic DNA Translation: AAC62262.1
U21914 mRNA Translation: AAA64505.1
BC000908 mRNA Translation: AAH00908.1
BC015308 mRNA Translation: AAH15308.1
BC062723 mRNA Translation: AAH62723.1
BC070242 mRNA Translation: AAH70242.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34181.1 [Q16637-1]
CCDS34182.1 [Q16637-2]
CCDS4007.1 [Q16637-1]
CCDS4008.1 [Q16637-2]
CCDS54867.1 [Q16637-3]
CCDS75256.1 [Q16637-3]

Protein sequence database of the Protein Information Resource

More...PIRi		A55477

NCBI Reference Sequences

More...RefSeqi		NP_000335.1, NM_000344.3 [Q16637-1]
NP_001284644.1, NM_001297715.1 [Q16637-3]
NP_059107.1, NM_017411.3 [Q16637-1]
NP_075012.1, NM_022874.2 [Q16637-2]
NP_075013.1, NM_022875.2 [Q16637-3]
NP_075014.1, NM_022876.2 [Q16637-2]
NP_075015.1, NM_022877.2 [Q16637-4]
XP_016865275.1, XM_017009786.1 [Q16637-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000351205.8; ENSP00000305857.5; ENSG00000172062.17
ENST00000380707.9; ENSP00000370083.4; ENSG00000172062.17
ENST00000380741.8; ENSP00000370117.5; ENSG00000205571.14
ENST00000380742.8; ENSP00000370118.4; ENSG00000205571.14 [Q16637-2]
ENST00000380743.9; ENSP00000370119.4; ENSG00000205571.14
ENST00000503079.6; ENSP00000428128.1; ENSG00000172062.17 [Q16637-2]
ENST00000506163.5; ENSP00000424926.1; ENSG00000172062.17 [Q16637-3]
ENST00000611442.4; ENSP00000483768.1; ENSG00000277773.4 [Q16637-2]
ENST00000614240.4; ENSP00000479279.1; ENSG00000205571.14 [Q16637-2]
ENST00000614610.2; ENSP00000479920.1; ENSG00000273772.4
ENST00000614773.4; ENSP00000481427.1; ENSG00000273772.4 [Q16637-2]
ENST00000618251.4; ENSP00000483515.1; ENSG00000277773.4
ENST00000618661.2; ENSP00000483819.1; ENSG00000277773.4
ENST00000622158.4; ENSP00000480906.1; ENSG00000275349.4 [Q16637-2]
ENST00000622739.2; ENSP00000482966.1; ENSG00000275349.4
ENST00000624634.3; ENSP00000485595.1; ENSG00000277773.4 [Q16637-2]
ENST00000626847.2; ENSP00000486152.1; ENSG00000205571.14 [Q16637-3]
ENST00000627341.2; ENSP00000487421.1; ENSG00000273772.4
ENST00000628353.2; ENSP00000487029.1; ENSG00000275349.4 [Q16637-3]
ENST00000628642.2; ENSP00000487015.1; ENSG00000273772.4 [Q16637-3]
ENST00000629122.2; ENSP00000487206.1; ENSG00000275349.4

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6606
6607

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6606
hsa:6607

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000380707.9; ENSP00000370083.4; NM_000344.4; NP_000335.1
ENST00000380743.9; ENSP00000370119.4; NM_017411.4; NP_059107.1

UCSC genome browser

More...UCSCi		uc003jyd.4, human [Q16637-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

SHMPD

The Singapore human mutation and polymorphism database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U43883 U43882 Genomic DNA Translation: AAC50473.1
U18423 mRNA Translation: AAA66242.1
U80017 Genomic DNA Translation: AAC52048.1
AK289669 mRNA Translation: BAF82358.1
AC004999 Genomic DNA Translation: AAC83178.1
AC005031 Genomic DNA Translation: AAC62262.1
U21914 mRNA Translation: AAA64505.1
BC000908 mRNA Translation: AAH00908.1
BC015308 mRNA Translation: AAH15308.1
BC062723 mRNA Translation: AAH62723.1
BC070242 mRNA Translation: AAH70242.1
CCDSiCCDS34181.1 [Q16637-1]
CCDS34182.1 [Q16637-2]
CCDS4007.1 [Q16637-1]
CCDS4008.1 [Q16637-2]
CCDS54867.1 [Q16637-3]
CCDS75256.1 [Q16637-3]
PIRiA55477
RefSeqiNP_000335.1, NM_000344.3 [Q16637-1]
NP_001284644.1, NM_001297715.1 [Q16637-3]
NP_059107.1, NM_017411.3 [Q16637-1]
NP_075012.1, NM_022874.2 [Q16637-2]
NP_075013.1, NM_022875.2 [Q16637-3]
NP_075014.1, NM_022876.2 [Q16637-2]
NP_075015.1, NM_022877.2 [Q16637-4]
XP_016865275.1, XM_017009786.1 [Q16637-4]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1G5VNMR-A90-145[»]
1MHNX-ray1.80A89-147[»]
2LEHNMR-B26-51[»]
4A4ENMR-A84-147[»]
4A4GNMR-A84-147[»]
4GLIX-ray1.90A263-294[»]
4QQ6X-ray1.75A82-147[»]
5XJLX-ray2.50M26-62[»]
5XJQX-ray3.28M26-62[»]
5XJRX-ray3.12M26-62[»]
5XJSX-ray3.38M26-62[»]
5XJTX-ray2.92M26-62[»]
5XJUX-ray2.58M26-62[»]
AlphaFoldDBiQ16637
BMRBiQ16637
SMRiQ16637
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi112490, 274 interactors
112491, 78 interactors
ComplexPortaliCPX-6031, SMN complex
CORUMiQ16637
DIPiDIP-31309N
IntActiQ16637, 245 interactors
MINTiQ16637
STRINGi9606.ENSP00000370083

Chemistry databases

BindingDBiQ16637
ChEMBLiCHEMBL1293232

PTM databases

GlyGeniQ16637, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ16637
PhosphoSitePlusiQ16637

Genetic variation databases

BioMutaiSMN1
DMDMi2498924

Proteomic databases

EPDiQ16637
jPOSTiQ16637
MassIVEiQ16637
MaxQBiQ16637
PaxDbiQ16637
PeptideAtlasiQ16637
PRIDEiQ16637
ProteomicsDBi60992 [Q16637-1]
60993 [Q16637-2]
60994 [Q16637-3]
60995 [Q16637-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		12087, 382 antibodies from 24 providers
3991, 301 antibodies from 35 providers

The DNASU plasmid repository

More...DNASUi		6606

Genome annotation databases

EnsembliENST00000351205.8; ENSP00000305857.5; ENSG00000172062.17
ENST00000380707.9; ENSP00000370083.4; ENSG00000172062.17
ENST00000380741.8; ENSP00000370117.5; ENSG00000205571.14
ENST00000380742.8; ENSP00000370118.4; ENSG00000205571.14 [Q16637-2]
ENST00000380743.9; ENSP00000370119.4; ENSG00000205571.14
ENST00000503079.6; ENSP00000428128.1; ENSG00000172062.17 [Q16637-2]
ENST00000506163.5; ENSP00000424926.1; ENSG00000172062.17 [Q16637-3]
ENST00000611442.4; ENSP00000483768.1; ENSG00000277773.4 [Q16637-2]
ENST00000614240.4; ENSP00000479279.1; ENSG00000205571.14 [Q16637-2]
ENST00000614610.2; ENSP00000479920.1; ENSG00000273772.4
ENST00000614773.4; ENSP00000481427.1; ENSG00000273772.4 [Q16637-2]
ENST00000618251.4; ENSP00000483515.1; ENSG00000277773.4
ENST00000618661.2; ENSP00000483819.1; ENSG00000277773.4
ENST00000622158.4; ENSP00000480906.1; ENSG00000275349.4 [Q16637-2]
ENST00000622739.2; ENSP00000482966.1; ENSG00000275349.4
ENST00000624634.3; ENSP00000485595.1; ENSG00000277773.4 [Q16637-2]
ENST00000626847.2; ENSP00000486152.1; ENSG00000205571.14 [Q16637-3]
ENST00000627341.2; ENSP00000487421.1; ENSG00000273772.4
ENST00000628353.2; ENSP00000487029.1; ENSG00000275349.4 [Q16637-3]
ENST00000628642.2; ENSP00000487015.1; ENSG00000273772.4 [Q16637-3]
ENST00000629122.2; ENSP00000487206.1; ENSG00000275349.4
GeneIDi6606
6607
KEGGihsa:6606
hsa:6607
MANE-SelectiENST00000380707.9; ENSP00000370083.4; NM_000344.4; NP_000335.1
ENST00000380743.9; ENSP00000370119.4; NM_017411.4; NP_059107.1
UCSCiuc003jyd.4, human [Q16637-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6606
6607
DisGeNETi6606
6607

GeneCards: human genes, protein and diseases

More...GeneCardsi		SMN1
SMN2
GeneReviewsiSMN1
SMN2
HGNCiHGNC:11117, SMN1
HGNC:11118, SMN2
HPAiENSG00000172062, Low tissue specificity
ENSG00000205571, Low tissue specificity
MalaCardsiSMN1
SMN2
MIMi253300, phenotype
253400, phenotype
253550, phenotype
271150, phenotype
600354, gene
601627, gene
neXtProtiNX_Q16637
OpenTargetsiENSG00000172062
ENSG00000205571
Orphaneti83330, Proximal spinal muscular atrophy type 1
83418, Proximal spinal muscular atrophy type 2
83419, Proximal spinal muscular atrophy type 3
83420, Proximal spinal muscular atrophy type 4
PharmGKBiPA35967
VEuPathDBiHostDB:ENSG00000172062
HostDB:ENSG00000205571

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4327, Eukaryota
GeneTreeiENSGT00940000153352
HOGENOMiCLU_077852_0_0_1
InParanoidiQ16637
OMAiLMAWYMS
OrthoDBi1316275at2759
PhylomeDBiQ16637
TreeFamiTF318390

Enzyme and pathway databases

PathwayCommonsiQ16637
ReactomeiR-HSA-191859, snRNP Assembly
SignaLinkiQ16637
SIGNORiQ16637

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		6606, 35 hits in 247 CRISPR screens
6607, 402 hits in 609 CRISPR screens

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

More...ChiTaRSi		SMN1, human
SMN2, human
EvolutionaryTraceiQ16637

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SMN1
SMN2
PharosiQ16637, Tchem

Protein Ontology

More...PROi		PR:Q16637
RNActiQ16637, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000172062, Expressed in ventricular zone and 113 other tissues
ExpressionAtlasiQ16637, baseline and differential
GenevisibleiQ16637, HS

Family and domain databases

CDDicd04508, TUDOR, 1 hit
IDEALiIID00569
InterProiView protein in InterPro
IPR010304, SMN_Tudor
IPR002999, Tudor
PfamiView protein in Pfam
PF06003, SMN, 1 hit
SMARTiView protein in SMART
SM00333, TUDOR, 1 hit
PROSITEiView protein in PROSITE
PS50304, TUDOR, 1 hit

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 nameiSMN_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: Q16637
Secondary accession number(s): A8K0V4
, Q13119, Q549U5, Q96J51
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: May 25, 2022
This is version 233 of the entry and version 1 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, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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