SMN1

Functionⁱ

The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. 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. 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. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus. Ensures the correct splicing of U12 intron-containing genes that may be important for normal motor and proprioceptive neurons development. 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. May also play a role in the metabolism of small nucleolar ribonucleoprotein (snoRNPs).4 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.

GO - Molecular functionⁱ

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

DNA-templated transcription, termination
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 26700805
import into nucleus Source: Reactome
nervous system development Source: UniProtKB-KW
spliceosomal complex assembly
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 9845364
spliceosomal snRNP assembly
Source: UniProtKB
Inferred from direct assayⁱ
- 18984161

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	RNA-binding
Biological process	mRNA processing, mRNA splicing, Neurogenesis

Enzyme and pathway databases

Reactomeⁱ	R-HSA-191859 snRNP Assembly
SIGNORⁱ	Q16637

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Survival motor neuron protein Alternative 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	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 5

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000172062.16 HostDB:ENSG00000205571.12
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:11117 SMN1 HGNC:11118 SMN2
MIMⁱ	600354 gene 601627 gene
neXtProtⁱ	NX_Q16637

Keywords - Cellular componentⁱ

Cell projection, Cytoplasm, Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Spinal muscular atrophy 1 (SMA1)6 Publications

The disease is caused by mutations 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.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_034807	116	I → F in SMA1. 1 PublicationCorresponds to variant dbSNP:rs104893933EnsemblClinVar.	1
Natural variantⁱVAR_034808	136	Q → E in SMA1. 1 PublicationCorresponds 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. 2 PublicationsCorresponds to variant dbSNP:rs76163360EnsemblClinVar.	1

Spinal muscular atrophy 2 (SMA2)4 Publications

The disease is caused by mutations 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.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
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. 1 PublicationCorresponds to variant dbSNP:rs104893935EnsemblClinVar.		1

Spinal muscular atrophy 3 (SMA3)4 Publications

The disease is caused by mutations 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.

Feature key	Position(s)	DescriptionActions	Length
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:rs75660264EnsemblClinVar.	1
Natural variantⁱVAR_005619	275	G → S in SMA3. 1 PublicationCorresponds to variant dbSNP:rs77301881Ensembl.	1

Spinal muscular atrophy 4 (SMA4)2 Publications

The disease is caused by mutations 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.

Mutagenesis

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Mutagenesisⁱ	134	E → K: Reduces SMN binding to RPP20/POP7. 1 Publication		1

Keywords - Diseaseⁱ

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNET More...DisGeNETⁱ	6606 6607
GeneReviewsⁱ	SMN1 SMN2
MalaCards human disease database More...MalaCardsⁱ	SMN1 SMN2
MIMⁱ	253300 phenotype 253400 phenotype 253550 phenotype 271150 phenotype
Open Targets More...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

Chemistry databases

ChEMBLⁱ	CHEMBL1293232

ChEMBLⁱ

CHEMBL1293232

Polymorphism and mutation databases

DMDMⁱ	2498924

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	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 conjugation

Proteomic databases

EPDⁱ	Q16637
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q16637
PaxDbⁱ	Q16637
PeptideAtlas More...PeptideAtlasⁱ	Q16637
PRIDEⁱ	Q16637
ProteomicsDBⁱ	60992 60993 [Q16637-2] 60994 [Q16637-3] 60995 [Q16637-4]

PTM databases

iPTMnetⁱ	Q16637
PhosphoSitePlusⁱ	Q16637

Expressionⁱ

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

Bgeeⁱ	ENSG00000172062 Expressed in 87 organ(s), highest expression level in ectocervix
CleanExⁱ	HS_SMN1 HS_SMN2
ExpressionAtlasⁱ	Q16637 baseline and differential
Genevisibleⁱ	Q16637 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB009344 CAB069888 HPA045271

HPAⁱ

CAB009344
CAB069888
HPA045271

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).16 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
itself		15	EBI-395421,EBI-395421
BLOC1S6	Q9UL45	5	EBI-395421,EBI-465781
BYSL	Q13895	7	EBI-395421,EBI-358049
CHTOP	Q9Y3Y2	3	EBI-395421,EBI-347794
CHTOP	Q9Y3Y2-3	4	EBI-395447,EBI-11984237
COIL	P38432	4	EBI-395421,EBI-945751
FAM9B	Q8IZU0	7	EBI-395421,EBI-10175124
GEMIN2	O14893	17	EBI-395421,EBI-443648
GEMIN5	Q8TEQ6	7	EBI-395421,EBI-443630
GEMIN8	Q9NWZ8	4	EBI-395447,EBI-2626001
HNRNPUL1	Q9BUJ2	4	EBI-395421,EBI-1018153
KPNB1	Q14974	5	EBI-395447,EBI-286758
KPNB1	Q14974-1	2	EBI-395421,EBI-15488647
KRTAP19-7	Q3SYF9	4	EBI-395447,EBI-10241353
MAP3K5	Q99683	3	EBI-395421,EBI-476263
POLR1C	O15160	5	EBI-395421,EBI-1055079
POLR2A	P24928	12	EBI-395421,EBI-295301
POP7	O75817	5	EBI-395421,EBI-366574
PPIG	Q13427	4	EBI-395421,EBI-396072
SETX	Q7Z333	3	EBI-395421,EBI-1220123
Smn	Q9VV74	2	EBI-395421,EBI-185315	From Drosophila melanogaster.
SMN2	Q16637-3	4	EBI-395421,EBI-395447
SNRNP70	P08621	4	EBI-395421,EBI-1049228
SNRPB	P14678-1	3	EBI-395447,EBI-372471
VPS28	Q548N1	3	EBI-395421,EBI-10243107
VPS28	Q9UK41	5	EBI-395421,EBI-727424
WRAP53	Q9BUR4	5	EBI-395421,EBI-2563542

GO - Molecular functionⁱ

identical protein binding
Source: IntAct
Inferred from physical interactionⁱ

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	112490, 206 interactors 112491, 46 interactors
CORUMⁱ	Q16637
Database of interacting proteins More...DIPⁱ	DIP-31309N
IntActⁱ	Q16637, 229 interactors
Molecular INTeraction database More...MINTⁱ	Q16637
STRINGⁱ	9606.ENSP00000370119

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	38 – 48	Combined sources	11
Turnⁱ	87 – 90	Combined sources	4
Beta strandⁱ	97 – 101	Combined sources	5
Turnⁱ	103 – 105	Combined sources	3
Beta strandⁱ	108 – 117	Combined sources	10
Turnⁱ	118 – 121	Combined sources	4
Beta strandⁱ	122 – 127	Combined sources	6
Turnⁱ	128 – 130	Combined sources	3
Beta strandⁱ	133 – 137	Combined sources	5
Helixⁱ	138 – 140	Combined sources	3
Helixⁱ	263 – 280	Combined sources	18

Show more details

3D structure databases

ProteinModelPortalⁱ	Q16637
SMRⁱ	Q16637
ModBaseⁱ	Search...
MobiDBⁱ	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	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	Length
Compositional biasⁱ	195 – 203	Poly-Pro	9
Compositional biasⁱ	217 – 226	Poly-Pro	10
Compositional biasⁱ	244 – 248	Poly-Pro	5

Domainⁱ

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

Sequence similaritiesⁱ

Belongs to the SMN family.Curated

Phylogenomic databases

eggNOGⁱ	KOG4327 Eukaryota ENOG4111ME8 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00730000111041
HOGENOMⁱ	HOG000232199
HOVERGENⁱ	HBG000211
InParanoidⁱ	Q16637
KEGG Orthology (KO) More...KOⁱ	K13129
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0OJK
PhylomeDBⁱ	Q16637
TreeFamⁱ	TF318390

Family and domain databases

InterProⁱ	View protein in InterPro IPR010304 Survival_motor_neuron IPR002999 Tudor
Pfam protein domain database More...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

Sequences (4+)ⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsⁱ produced by alternative splicing. Align Add 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 all Align All

Isoform SMN (identifier: Q16637-1) [UniParc]FASTA Add to basket

Also known as: Full-SMN

This isoform has been chosen as the 'canonical' 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

Checksum:ⁱ8A9A2A94192DCB9B

GO

Isoform SMN-delta5 (identifier: Q16637-2) [UniParc]FASTA Add to basket

Also known as: Iso5-SMN

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

« 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
PGPRLGPGKI IPPPPPICPD SLDDADALGS MLISWYMSGY HTGYYMGFRQ 
       260 
NQKEGRCSHS LN

Show »

Length:262

Mass (Da):28,534

Checksum:ⁱA93E61C77B59FFFC

GO

Isoform SMN-delta7 (identifier: Q16637-3) [UniParc]FASTA Add 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.

« 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 
PDSLDDADAL GSMLISWYMS GYHTGYYMEM LA

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.

Show »

Length:282

Mass (Da):30,450

Checksum:ⁱD79F1C206C884461

GO

Isoform SMN-delta57 (identifier: Q16637-4) [UniParc]FASTA Add 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.

« 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
PGPRLGPGKI IPPPPPICPD SLDDADALGS MLISWYMSGY HTGYYMEMLA

Show »

Length:250

Mass (Da):27,135

Checksum:ⁱ6F2EF8FE7D1E4033

GO

Computationally mapped potential isoform sequencesⁱ

There are 8 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

E7EQZ4	E7EQZ4_HUMAN	Survival motor neuron protein Survival motor neuron protein	SMN1 SMN2	294	Annotation score:
H0YBZ9	H0YBZ9_HUMAN	Survival motor neuron protein Survival motor neuron protein	SMN2 SMN1	79	Annotation score:
B4DP61	B4DP61_HUMAN	cDNA FLJ60754, moderately similar t... cDNA FLJ60754, moderately similar to Survival motor neuron protein	SMN1 SMN2	227	Annotation score:
A0A1W2PRV5	A0A1W2PRV5_HUMAN	Survival motor neuron protein Survival motor neuron protein	SMN2	282	Annotation score:
A0A0G2JRX5	A0A0G2JRX5_HUMAN	Survival motor neuron protein Survival motor neuron protein	SMN1	143	Annotation score:
A0A0G2JRY6	A0A0G2JRY6_HUMAN	Survival motor neuron protein Survival motor neuron protein	SMN1	180	Annotation score:
U3KPX7	U3KPX7_HUMAN	Survival motor neuron protein Survival motor neuron protein	SMN2	46	Annotation score:
A0A0G2JQN8	A0A0G2JQN8_HUMAN	Survival motor neuron protein Survival motor neuron protein	SMN1	149	Annotation score:

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_005615	2	A → G in SMA2 and SMA3. 1 PublicationCorresponds to variant dbSNP:rs75030631EnsemblClinVar.	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. 1 PublicationCorresponds to variant dbSNP:rs104893935EnsemblClinVar.	1
Natural variantⁱVAR_034807	116	I → F in SMA1. 1 PublicationCorresponds to variant dbSNP:rs104893933EnsemblClinVar.	1
Natural variantⁱVAR_034808	136	Q → E in SMA1. 1 PublicationCorresponds 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:rs75660264EnsemblClinVar.	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:rs76871093EnsemblClinVar.	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. 2 PublicationsCorresponds to variant dbSNP:rs76163360EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	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

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
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]
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]
UniGeneⁱ	Hs.202179 Hs.535788

Genome annotation databases

Ensemblⁱ	ENST00000351205; ENSP00000305857; ENSG00000172062 [Q16637-1] ENST00000380707; ENSP00000370083; ENSG00000172062 [Q16637-1] ENST00000380741; ENSP00000370117; ENSG00000205571 [Q16637-1] ENST00000380742; ENSP00000370118; ENSG00000205571 [Q16637-2] ENST00000380743; ENSP00000370119; ENSG00000205571 [Q16637-1] ENST00000503079; ENSP00000428128; ENSG00000172062 [Q16637-2] ENST00000506163; ENSP00000424926; ENSG00000172062 [Q16637-3] ENST00000611442; ENSP00000483768; ENSG00000277773 [Q16637-2] ENST00000614240; ENSP00000479279; ENSG00000205571 [Q16637-2] ENST00000614610; ENSP00000479920; ENSG00000273772 [Q16637-1] ENST00000614773; ENSP00000481427; ENSG00000273772 [Q16637-2] ENST00000618251; ENSP00000483515; ENSG00000277773 [Q16637-1] ENST00000618661; ENSP00000483819; ENSG00000277773 [Q16637-1] ENST00000622158; ENSP00000480906; ENSG00000275349 [Q16637-2] ENST00000622739; ENSP00000482966; ENSG00000275349 [Q16637-1] ENST00000624634; ENSP00000485595; ENSG00000277773 [Q16637-2] ENST00000626847; ENSP00000486152; ENSG00000205571 [Q16637-3] ENST00000627341; ENSP00000487421; ENSG00000273772 [Q16637-1] ENST00000628353; ENSP00000487029; ENSG00000275349 [Q16637-3] ENST00000628642; ENSP00000487015; ENSG00000273772 [Q16637-3] ENST00000629122; ENSP00000487206; ENSG00000275349 [Q16637-1]
GeneIDⁱ	6606 6607
KEGGⁱ	hsa:6606 hsa:6607
UCSC genome browser More...UCSCⁱ	uc003jyd.4 human [Q16637-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q16637	Survival motor neuron protein		MACFA		294	UniRef90_Q16637
Survival motor neuron protein		PONAB		294
SMN1 isoform 1		PANTR		297
Uncharacterized protein		PAPAN		295
Uncharacterized protein		CERAT		294
+47
Q16637-2	SMN1 isoform 2		PANTR		262	UniRef90_Q16637-2
Survival motor neuron 1 protein isoform b (Fragment)		HUMAN		179
Survival of motor neuron 2, centromeric		GORGO		246
Uncharacterized protein		COLAP		262
Uncharacterized protein		PANPA		262
+17
Q16637-3	Uncharacterized protein		AOTNA		296	UniRef90_Q16637-3
Survival motor neuron protein isoform d		CALJA		295
Uncharacterized protein		Cebus capucinus imitator		293
Uncharacterized protein		SAIBB		291
Uncharacterized protein		PANTR		285
+20
Q16637-4	Survival motor neuron 1 protein isoform c (Fragment)		HUMAN		167	UniRef90_Q16637-4
Survival of motor neuron 2, centromeric		GORGO		250
UPI0005F5629E		COLAP		280
UPI00020AC6A6		NOMLE		250
UPI00045E0C8B		CHLSB		250
+5

Protein	Similar proteins		Species	Score	Length	Source
Q16637	Survival motor neuron protein		PONAB		294	UniRef50_Q16637
Survival motor neuron protein		MACFA		294
Survival of motor neuron protein		FELCA		290
Survival motor neuron protein		CANLF		287
SMN1 isoform 4		PANTR		297
+122
Q16637-2	Survival motor neuron protein		RAT		289	UniRef50_Q16637-2
Survival motor neuron protein		MOUSE		288
Survival motor neuron protein 1		DANRE		281
Survival motor neuron protein		BOVIN		287
SMN1 isoform 2		PANTR		262
+251
Q16637-3	Uncharacterized protein		AOTNA		296	UniRef50_Q16637-3
Survival motor neuron protein isoform d		CALJA		295
Uncharacterized protein		Cebus capucinus imitator		293
Uncharacterized protein		SAIBB		291
SMN1 isoform 5		PANTR		285
+30
Q16637-4	Isoform SMN-delta5 of Survival motor neuron protein		HUMAN		262	UniRef50_Q16637-2
Survival motor neuron protein		RAT		289
Survival motor neuron protein		MOUSE		288
Survival motor neuron protein 1		DANRE		281
Survival motor neuron protein		BOVIN		287
+251

Cross-referencesⁱ

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
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]
UniGeneⁱ	Hs.202179 Hs.535788

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 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	[»]
ProteinModelPortalⁱ	Q16637
SMRⁱ	Q16637
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	112490, 206 interactors 112491, 46 interactors
CORUMⁱ	Q16637
DIPⁱ	DIP-31309N
IntActⁱ	Q16637, 229 interactors
MINTⁱ	Q16637
STRINGⁱ	9606.ENSP00000370119

Chemistry databases

ChEMBLⁱ	CHEMBL1293232

ChEMBLⁱ

CHEMBL1293232

PTM databases

iPTMnetⁱ	Q16637
PhosphoSitePlusⁱ	Q16637

Polymorphism and mutation databases

DMDMⁱ	2498924

DMDMⁱ

2498924

Proteomic databases

EPDⁱ	Q16637
MaxQBⁱ	Q16637
PaxDbⁱ	Q16637
PeptideAtlasⁱ	Q16637
PRIDEⁱ	Q16637
ProteomicsDBⁱ	60992 60993 [Q16637-2] 60994 [Q16637-3] 60995 [Q16637-4]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	6606 6607
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000351205; ENSP00000305857; ENSG00000172062 [Q16637-1] ENST00000380707; ENSP00000370083; ENSG00000172062 [Q16637-1] ENST00000380741; ENSP00000370117; ENSG00000205571 [Q16637-1] ENST00000380742; ENSP00000370118; ENSG00000205571 [Q16637-2] ENST00000380743; ENSP00000370119; ENSG00000205571 [Q16637-1] ENST00000503079; ENSP00000428128; ENSG00000172062 [Q16637-2] ENST00000506163; ENSP00000424926; ENSG00000172062 [Q16637-3] ENST00000611442; ENSP00000483768; ENSG00000277773 [Q16637-2] ENST00000614240; ENSP00000479279; ENSG00000205571 [Q16637-2] ENST00000614610; ENSP00000479920; ENSG00000273772 [Q16637-1] ENST00000614773; ENSP00000481427; ENSG00000273772 [Q16637-2] ENST00000618251; ENSP00000483515; ENSG00000277773 [Q16637-1] ENST00000618661; ENSP00000483819; ENSG00000277773 [Q16637-1] ENST00000622158; ENSP00000480906; ENSG00000275349 [Q16637-2] ENST00000622739; ENSP00000482966; ENSG00000275349 [Q16637-1] ENST00000624634; ENSP00000485595; ENSG00000277773 [Q16637-2] ENST00000626847; ENSP00000486152; ENSG00000205571 [Q16637-3] ENST00000627341; ENSP00000487421; ENSG00000273772 [Q16637-1] ENST00000628353; ENSP00000487029; ENSG00000275349 [Q16637-3] ENST00000628642; ENSP00000487015; ENSG00000273772 [Q16637-3] ENST00000629122; ENSP00000487206; ENSG00000275349 [Q16637-1]
GeneIDⁱ	6606 6607
KEGGⁱ	hsa:6606 hsa:6607
UCSCⁱ	uc003jyd.4 human [Q16637-1]

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	CAB009344 CAB069888 HPA045271
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
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG4327 Eukaryota ENOG4111ME8 LUCA
GeneTreeⁱ	ENSGT00730000111041
HOGENOMⁱ	HOG000232199
HOVERGENⁱ	HBG000211
InParanoidⁱ	Q16637
KOⁱ	K13129
OrthoDBⁱ	EOG091G0OJK
PhylomeDBⁱ	Q16637
TreeFamⁱ	TF318390

Enzyme and pathway databases

Reactomeⁱ	R-HSA-191859 snRNP Assembly
SIGNORⁱ	Q16637

Miscellaneous databases

EvolutionaryTraceⁱ	Q16637
GeneWikiⁱ	SMN1 SMN2
Protein Ontology More...PROⁱ	PR:Q16637
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000172062 Expressed in 87 organ(s), highest expression level in ectocervix
CleanExⁱ	HS_SMN1 HS_SMN2
ExpressionAtlasⁱ	Q16637 baseline and differential
Genevisibleⁱ	Q16637 HS

Family and domain databases

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...

Entry informationⁱ

Entry nameⁱ	SMN_HUMAN
Accessionⁱ	Q16637Primary (citable) accession number: Q16637 Secondary accession number(s): A8K0V4 , Q13119, Q549U5, Q96J51
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
	Last sequence update:	November 1, 1996
	Last modified:	September 12, 2018
	This is version 210 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, Complete proteome, Reference proteome

Documents

Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
SIMILARITY comments
Index of protein domains and families
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
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

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UniProtKB - Q16637 (SMN_HUMAN)

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Survival motor neuron protein

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<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

Miscellaneous

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Enzyme and pathway databases

<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

Organism-specific databases

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Keywords - Cellular componenti

<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

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Keywords - Diseasei

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<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

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Keywords - PTMi

Proteomic databases

PTM databases

<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

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<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

GO - Molecular functioni

Protein-protein interaction databases

<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

3D structure databases

Miscellaneous databases

<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

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<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

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Alternative sequence

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Keywords - Coding sequence diversityi

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

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

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GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

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Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ