UniProtKB - Q16637 (SMN_HUMAN)
Functioni
Miscellaneous
GO - Molecular functioni
- identical protein binding Source: IntAct
- RNA binding Source: UniProtKB-KW
GO - Biological processi
- DNA-templated transcription, termination Source: UniProtKB
- import into nucleus Source: Reactome
- nervous system development Source: UniProtKB-KW
- spliceosomal complex assembly Source: UniProtKB
- spliceosomal snRNP assembly Source: UniProtKB
Keywordsi
Molecular function | RNA-binding |
Biological process | mRNA processing, mRNA splicing, Neurogenesis |
Enzyme and pathway databases
PathwayCommonsi | Q16637 |
Reactomei | R-HSA-191859, snRNP Assembly |
SIGNORi | Q16637 |
Names & Taxonomyi
Protein namesi | Recommended name: Survival motor neuron proteinAlternative name(s): Component of gems 1 Gemin-1 |
Gene namesi | Name:SMN1 Synonyms:SMN, SMNT AND Name:SMN2 Synonyms:SMNC |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000172062.16 HostDB:ENSG00000205571.12 |
HGNCi | HGNC:11117, SMN1 HGNC:11118, SMN2 |
MIMi | 600354, gene 601627, gene |
neXtProti | NX_Q16637 |
Subcellular locationi
Nucleus
- gem 1 Publication2 Publications
- Cajal body 1 Publication2 Publications
Other locations
- Cytoplasm 1 Publication2 Publications
- Cytoplasmic granule 1 Publication
- Perikaryon 1 Publication
- neuron projection 1 Publication
- axon By similarity
- Z line By similarity
Note: Colocalizes with actin and at the Z-line of skeletal muscle (By similarity). Under stress conditions colocalizes with RPP20/POP7 in punctuated cytoplasmic granules (PubMed:14715275). Colocalized and redistributed with ZPR1 from the cytoplasm to nuclear gems (Gemini of coiled bodies) and Cajal bodies (PubMed:11283611). Colocalizes with FMR1 in cytoplasmic granules in the soma and neurite cell processes (PubMed:18093976).By similarity3 Publications
Cytosol
- cytosol Source: UniProtKB
Nucleus
- Cajal body Source: UniProtKB
- Gemini of coiled bodies Source: UniProtKB
- nuclear body Source: HPA
- nucleoplasm Source: UniProtKB
- nucleus Source: UniProtKB
Other locations
- axon Source: UniProtKB-SubCell
- cytoplasm Source: UniProtKB
- cytoplasmic ribonucleoprotein granule Source: UniProtKB
- neuron projection Source: UniProtKB
- perikaryon Source: UniProtKB
- SMN complex Source: UniProtKB
- SMN-Sm protein complex Source: UniProtKB
- Z disc Source: UniProtKB-SubCell
Keywords - Cellular componenti
Cell projection, Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Spinal muscular atrophy 1 (SMA1)8 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_034807 | 116 | I → F in SMA1; abolishes the interaction with ELAVL4. 2 PublicationsCorresponds to variant dbSNP:rs104893933EnsemblClinVar. | 1 | |
Natural variantiVAR_034808 | 136 | Q → E in SMA1; abolishes the interaction with ELAVL4. 2 PublicationsCorresponds to variant dbSNP:rs104893934EnsemblClinVar. | 1 | |
Natural variantiVAR_005617 | 272 | Y → C in SMA1; abolishes SMN binding to RPP20/POP7. 4 PublicationsCorresponds to variant dbSNP:rs104893922EnsemblClinVar. | 1 | |
Natural variantiVAR_005620 | 279 | G → V in SMA1; slightly reduces SMN binding to RPP20/POP7. Impairs dimerization and axon localization. 3 PublicationsCorresponds to variant dbSNP:rs76163360Ensembl. | 1 |
Spinal muscular atrophy 2 (SMA2)5 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_005615 | 2 | A → G in SMA2 and SMA3. 1 PublicationCorresponds to variant dbSNP:rs75030631Ensembl. | 1 | |
Natural variantiVAR_034803 | 30 | D → N in SMA2. 1 PublicationCorresponds to variant dbSNP:rs104893930EnsemblClinVar. | 1 | |
Natural variantiVAR_034806 | 111 | A → G in SMA2; reduces SMN binding to Sm proteins; abolishes the interaction with ELAVL4. 2 PublicationsCorresponds to variant dbSNP:rs104893935EnsemblClinVar. | 1 | |
Natural variantiVAR_005618 | 274 | T → I in SMA2 and SMA3; reduces SMN binding to RPP20/POP7. 3 PublicationsCorresponds to variant dbSNP:rs76871093Ensembl. | 1 | |
Natural variantiVAR_007990 | 279 | G → C in SMA2 and SMA3. 1 PublicationCorresponds to variant dbSNP:rs77969175Ensembl. | 1 |
Spinal muscular atrophy 3 (SMA3)4 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_005615 | 2 | A → G in SMA2 and SMA3. 1 PublicationCorresponds to variant dbSNP:rs75030631Ensembl. | 1 | |
Natural variantiVAR_034804 | 44 | D → V in SMA3. 1 PublicationCorresponds to variant dbSNP:rs104893931EnsemblClinVar. | 1 | |
Natural variantiVAR_034805 | 95 | G → R in SMA3; reduces SMN binding to Sm proteins. 1 PublicationCorresponds to variant dbSNP:rs104893927EnsemblClinVar. | 1 | |
Natural variantiVAR_010051 | 245 | P → L in SMA3. 1 PublicationCorresponds to variant dbSNP:rs75586164Ensembl. | 1 | |
Natural variantiVAR_034809 | 262 | S → G in SMA3. 1 PublicationCorresponds to variant dbSNP:rs104893932EnsemblClinVar. | 1 | |
Natural variantiVAR_005616 | 262 | S → I in SMA3; slightly reduces SMN binding to RPP20/POP7. 2 PublicationsCorresponds to variant dbSNP:rs75660264Ensembl. | 1 | |
Natural variantiVAR_005618 | 274 | T → I in SMA2 and SMA3; reduces SMN binding to RPP20/POP7. 3 PublicationsCorresponds to variant dbSNP:rs76871093Ensembl. | 1 | |
Natural variantiVAR_005619 | 275 | G → S in SMA3. 1 PublicationCorresponds to variant dbSNP:rs77301881Ensembl. | 1 | |
Natural variantiVAR_007990 | 279 | G → C in SMA2 and SMA3. 1 PublicationCorresponds to variant dbSNP:rs77969175Ensembl. | 1 |
Spinal muscular atrophy 4 (SMA4)2 Publications
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 134 | E → K: Reduces SMN binding to RPP20/POP7. Abolishes the interaction with ELAVL4. 4 Publications | 1 |
Keywords - Diseasei
Disease mutation, NeurodegenerationOrganism-specific databases
DisGeNETi | 6606 6607 |
GeneReviewsi | SMN1 SMN2 |
MalaCardsi | SMN1 SMN2 |
MIMi | 253300, phenotype 253400, phenotype 253550, phenotype 271150, phenotype |
OpenTargetsi | ENSG00000172062 ENSG00000205571 |
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 |
PharmGKBi | PA35967 |
Miscellaneous databases
Pharosi | Q16637, Tbio |
Chemistry databases
ChEMBLi | CHEMBL1293232 |
Polymorphism and mutation databases
BioMutai | SMN1 |
DMDMi | 2498924 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000218903 | 2 – 294 | Survival motor neuron proteinAdd BLAST | 293 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 4 | Phosphoserine; by PKACombined sources1 Publication | 1 | |
Modified residuei | 5 | Phosphoserine; by PKACombined sources1 Publication | 1 | |
Modified residuei | 8 | Phosphoserine; by PKACombined sources1 Publication | 1 | |
Modified residuei | 25 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 28 | PhosphoserineCombined sources | 1 | |
Modified residuei | 31 | PhosphoserineCombined sources | 1 | |
Cross-linki | 51 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 69 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 85 | Phosphothreonine; by PKA1 Publication | 1 | |
Modified residuei | 187 | Phosphoserine; by PKA1 Publication | 1 | |
Cross-linki | 209 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Keywords - PTMi
Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q16637 |
jPOSTi | Q16637 |
MassIVEi | Q16637 |
MaxQBi | Q16637 |
PaxDbi | Q16637 |
PeptideAtlasi | Q16637 |
PRIDEi | Q16637 |
ProteomicsDBi | 60992 [Q16637-1] 60993 [Q16637-2] 60994 [Q16637-3] 60995 [Q16637-4] |
PTM databases
iPTMneti | Q16637 |
PhosphoSitePlusi | Q16637 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000172062, Expressed in ventricular zone and 112 other tissues |
ExpressionAtlasi | Q16637, baseline and differential |
Genevisiblei | Q16637, HS |
Organism-specific databases
HPAi | ENSG00000172062, Low tissue specificity ENSG00000205571, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer (PubMed:14715275). Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP (PubMed:9323129). 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).
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).
19 PublicationsBinary interactionsi
Hide detailsQ16637
Isoform SMN-delta5 [Q16637-2]
With | #Exp. | IntAct |
---|---|---|
GEMIN2 [O14893] | 4 | EBI-16014970,EBI-443648 |
Isoform SMN-delta7 [Q16637-3]
With | #Exp. | IntAct |
---|---|---|
KPNB1 [Q14974] | 5 | EBI-395447,EBI-286758 |
SNRPB - isoform SM-B' [P14678-1] | 3 | EBI-395447,EBI-372471 |
VPS28 [Q9UK41] | 3 | EBI-395447,EBI-727424 |
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 112490, 242 interactors 112491, 66 interactors |
CORUMi | Q16637 |
DIPi | DIP-31309N |
IntActi | Q16637, 194 interactors |
MINTi | Q16637 |
STRINGi | 9606.ENSP00000370119 |
Chemistry databases
BindingDBi | Q16637 |
Miscellaneous databases
RNActi | Q16637, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | Q16637 |
SMRi | Q16637 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q16637 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 91 – 151 | TudorPROSITE-ProRule annotationAdd BLAST | 61 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 13 – 44 | P1 (binding site for GEMIN2)Add BLAST | 32 | |
Regioni | 97 – 209 | Required for interaction with RPP20/POP7Add BLAST | 113 | |
Regioni | 240 – 267 | P2 (binding site for SNRPB)Add BLAST | 28 | |
Regioni | 279 – 294 | Required for interaction with SYNCRIP1 PublicationAdd BLAST | 16 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 195 – 203 | Poly-Pro | 9 | |
Compositional biasi | 217 – 226 | Poly-Pro | 10 | |
Compositional biasi | 244 – 248 | Poly-Pro | 5 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG4327, Eukaryota |
GeneTreei | ENSGT00940000153352 |
HOGENOMi | CLU_077852_0_0_1 |
InParanoidi | Q16637 |
OrthoDBi | 1316275at2759 |
PhylomeDBi | Q16637 |
TreeFami | TF318390 |
Family and domain databases
IDEALi | IID00569 |
InterProi | View protein in InterPro IPR010304, Survival_motor_neuron IPR002999, Tudor |
Pfami | View protein in Pfam PF06003, SMN, 1 hit |
SMARTi | View protein in SMART SM00333, TUDOR, 1 hit |
PROSITEi | View protein in PROSITE PS50304, TUDOR, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
The sequence of this isoform differs from the canonical sequence as follows:
210-241: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
279-282: GFRQ → EMLA
283-294: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
210-241: Missing.
279-282: GFRQ → EMLA
283-294: Missing.
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE7EQZ4 | E7EQZ4_HUMAN | Survival motor neuron protein | SMN1 SMN2 | 294 | Annotation score: | ||
A0A1W2PRV5 | A0A1W2PRV5_HUMAN | Survival motor neuron protein | SMN2 | 282 | Annotation score: | ||
A0A0G2JQN8 | A0A0G2JQN8_HUMAN | Survival motor neuron protein | SMN1 | 149 | Annotation score: | ||
A0A0G2JRX5 | A0A0G2JRX5_HUMAN | Survival motor neuron protein | SMN1 | 143 | Annotation score: | ||
A0A0G2JRY6 | A0A0G2JRY6_HUMAN | Survival motor neuron protein | SMN1 | 180 | Annotation score: | ||
B4DP61 | B4DP61_HUMAN | Survival motor neuron protein | SMN1 SMN2 | 227 | Annotation score: | ||
H0YBZ9 | H0YBZ9_HUMAN | Survival motor neuron protein | SMN2 SMN1 | 79 | Annotation score: | ||
U3KPX7 | U3KPX7_HUMAN | Survival motor neuron protein | SMN2 | 46 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_005615 | 2 | A → G in SMA2 and SMA3. 1 PublicationCorresponds to variant dbSNP:rs75030631Ensembl. | 1 | |
Natural variantiVAR_034803 | 30 | D → N in SMA2. 1 PublicationCorresponds to variant dbSNP:rs104893930EnsemblClinVar. | 1 | |
Natural variantiVAR_034804 | 44 | D → V in SMA3. 1 PublicationCorresponds to variant dbSNP:rs104893931EnsemblClinVar. | 1 | |
Natural variantiVAR_034805 | 95 | G → R in SMA3; reduces SMN binding to Sm proteins. 1 PublicationCorresponds to variant dbSNP:rs104893927EnsemblClinVar. | 1 | |
Natural variantiVAR_034806 | 111 | A → G in SMA2; reduces SMN binding to Sm proteins; abolishes the interaction with ELAVL4. 2 PublicationsCorresponds to variant dbSNP:rs104893935EnsemblClinVar. | 1 | |
Natural variantiVAR_034807 | 116 | I → F in SMA1; abolishes the interaction with ELAVL4. 2 PublicationsCorresponds to variant dbSNP:rs104893933EnsemblClinVar. | 1 | |
Natural variantiVAR_034808 | 136 | Q → E in SMA1; abolishes the interaction with ELAVL4. 2 PublicationsCorresponds to variant dbSNP:rs104893934EnsemblClinVar. | 1 | |
Natural variantiVAR_010051 | 245 | P → L in SMA3. 1 PublicationCorresponds to variant dbSNP:rs75586164Ensembl. | 1 | |
Natural variantiVAR_034809 | 262 | S → G in SMA3. 1 PublicationCorresponds to variant dbSNP:rs104893932EnsemblClinVar. | 1 | |
Natural variantiVAR_005616 | 262 | S → I in SMA3; slightly reduces SMN binding to RPP20/POP7. 2 PublicationsCorresponds to variant dbSNP:rs75660264Ensembl. | 1 | |
Natural variantiVAR_005617 | 272 | Y → C in SMA1; abolishes SMN binding to RPP20/POP7. 4 PublicationsCorresponds to variant dbSNP:rs104893922EnsemblClinVar. | 1 | |
Natural variantiVAR_005618 | 274 | T → I in SMA2 and SMA3; reduces SMN binding to RPP20/POP7. 3 PublicationsCorresponds to variant dbSNP:rs76871093Ensembl. | 1 | |
Natural variantiVAR_005619 | 275 | G → S in SMA3. 1 PublicationCorresponds to variant dbSNP:rs77301881Ensembl. | 1 | |
Natural variantiVAR_007990 | 279 | G → C in SMA2 and SMA3. 1 PublicationCorresponds to variant dbSNP:rs77969175Ensembl. | 1 | |
Natural variantiVAR_005620 | 279 | G → V in SMA1; slightly reduces SMN binding to RPP20/POP7. Impairs dimerization and axon localization. 3 PublicationsCorresponds to variant dbSNP:rs76163360Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_006183 | 210 – 241 | Missing in isoform SMN-delta5 and isoform SMN-delta57. CuratedAdd BLAST | 32 | |
Alternative sequenceiVSP_006184 | 279 – 282 | GFRQ → EMLA in isoform SMN-delta7 and isoform SMN-delta57. 2 Publications | 4 | |
Alternative sequenceiVSP_006185 | 283 – 294 | Missing in isoform SMN-delta7 and isoform SMN-delta57. 2 PublicationsAdd BLAST | 12 |
Sequence databases
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
SHMPD The Singapore human mutation and polymorphism database |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U43883 , U43876, U43877, U43878, U43880, U43881, 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 |
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] |
PIRi | A55477 |
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] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1G5V | NMR | - | A | 82-169 | [»] | |
1MHN | X-ray | 1.80 | A | 89-147 | [»] | |
2LEH | NMR | - | B | 26-51 | [»] | |
4A4E | NMR | - | A | 84-147 | [»] | |
4A4G | NMR | - | A | 84-147 | [»] | |
4GLI | X-ray | 1.90 | A | 263-294 | [»] | |
4QQ6 | X-ray | 1.75 | A | 82-147 | [»] | |
5XJL | X-ray | 2.50 | M | 26-62 | [»] | |
5XJQ | X-ray | 3.28 | M | 26-62 | [»] | |
5XJR | X-ray | 3.12 | M | 26-62 | [»] | |
5XJS | X-ray | 3.38 | M | 26-62 | [»] | |
5XJT | X-ray | 2.92 | M | 26-62 | [»] | |
5XJU | X-ray | 2.58 | M | 26-62 | [»] | |
BMRBi | Q16637 | |||||
SMRi | Q16637 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112490, 242 interactors 112491, 66 interactors |
CORUMi | Q16637 |
DIPi | DIP-31309N |
IntActi | Q16637, 194 interactors |
MINTi | Q16637 |
STRINGi | 9606.ENSP00000370119 |
Chemistry databases
BindingDBi | Q16637 |
ChEMBLi | CHEMBL1293232 |
PTM databases
iPTMneti | Q16637 |
PhosphoSitePlusi | Q16637 |
Polymorphism and mutation databases
BioMutai | SMN1 |
DMDMi | 2498924 |
Proteomic databases
EPDi | Q16637 |
jPOSTi | Q16637 |
MassIVEi | Q16637 |
MaxQBi | Q16637 |
PaxDbi | Q16637 |
PeptideAtlasi | Q16637 |
PRIDEi | Q16637 |
ProteomicsDBi | 60992 [Q16637-1] 60993 [Q16637-2] 60994 [Q16637-3] 60995 [Q16637-4] |
Protocols and materials databases
Antibodypediai | 12087, 436 antibodies 3991, 213 antibodies |
DNASUi | 6606 6607 |
Genome annotation databases
Organism-specific databases
CTDi | 6606 6607 |
DisGeNETi | 6606 6607 |
EuPathDBi | HostDB:ENSG00000172062.16 HostDB:ENSG00000205571.12 |
GeneCardsi | SMN1 SMN2 |
GeneReviewsi | SMN1 SMN2 |
HGNCi | HGNC:11117, SMN1 HGNC:11118, SMN2 |
HPAi | ENSG00000172062, Low tissue specificity ENSG00000205571, Low tissue specificity |
MalaCardsi | SMN1 SMN2 |
MIMi | 253300, phenotype 253400, phenotype 253550, phenotype 271150, phenotype 600354, gene 601627, gene |
neXtProti | NX_Q16637 |
OpenTargetsi | ENSG00000172062 ENSG00000205571 |
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 |
PharmGKBi | PA35967 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4327, Eukaryota |
GeneTreei | ENSGT00940000153352 |
HOGENOMi | CLU_077852_0_0_1 |
InParanoidi | Q16637 |
OrthoDBi | 1316275at2759 |
PhylomeDBi | Q16637 |
TreeFami | TF318390 |
Enzyme and pathway databases
PathwayCommonsi | Q16637 |
Reactomei | R-HSA-191859, snRNP Assembly |
SIGNORi | Q16637 |
Miscellaneous databases
BioGRID-ORCSi | 6606, 23 hits in 100 CRISPR screens 6607, 393 hits in 476 CRISPR screens |
ChiTaRSi | SMN1, human SMN2, human |
EvolutionaryTracei | Q16637 |
GeneWikii | SMN1 SMN2 |
Pharosi | Q16637, Tbio |
PROi | PR:Q16637 |
RNActi | Q16637, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000172062, Expressed in ventricular zone and 112 other tissues |
ExpressionAtlasi | Q16637, baseline and differential |
Genevisiblei | Q16637, HS |
Family and domain databases
IDEALi | IID00569 |
InterProi | View protein in InterPro IPR010304, Survival_motor_neuron IPR002999, Tudor |
Pfami | View protein in Pfam PF06003, SMN, 1 hit |
SMARTi | View protein in SMART SM00333, TUDOR, 1 hit |
PROSITEi | View protein in PROSITE PS50304, TUDOR, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SMN_HUMAN | |
Accessioni | Q16637Primary (citable) accession number: Q16637 Secondary accession number(s): A8K0V4 Q96J51 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | November 1, 1996 | |
Last modified: | December 2, 2020 | |
This is version 227 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations