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MOUSE:SMN

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Species (Taxon ID) Mus musculus (Mouse). (10090)
Gene Name(s) Smn1 (synonyms: Smn)
Protein Name(s) Survival motor neuron protein
External Links
UniProt P97801
EMBL U63294
U77714
Y12835
BC045158
CCDS CCDS26725.1
RefSeq NP_001239558.1
NP_035550.1
UniGene Mm.2025
ProteinModelPortal P97801
SMR P97801
BioGrid 203344
IntAct P97801
STRING 10090.ENSMUSP00000022147
PhosphoSite P97801
MaxQB P97801
PaxDb P97801
PRIDE P97801
Ensembl ENSMUST00000022147
GeneID 20595
KEGG mmu:20595
UCSC uc007rqh.1
CTD 6606
MGI MGI:109257
eggNOG NOG296671
HOGENOM HOG000232199
HOVERGEN HBG000211
InParanoid P97801
KO K13129
OMA TTPLKQW
OrthoDB EOG7K6PVX
PhylomeDB P97801
TreeFam TF318390
Reactome REACT_206812
NextBio 298911
PRO PR:P97801
Proteomes UP000000589
Bgee P97801
CleanEx MM_SMN1
ExpressionAtlas P97801
Genevestigator P97801
GO GO:0015030
GO:0005737
GO:0005829
GO:0097504
GO:0005654
GO:0005634
GO:0032797
GO:0034719
GO:0030018
GO:0003723
GO:0007409
GO:0007019
GO:0000387
InterPro IPR010304
IPR002999
Pfam PF06003
SMART SM00333
PROSITE PS50304

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status
GO:0015030

Cajal body

PMID:11470819[1]

ECO:0000315

C

Mutant mice cannot "condense Sm proteins nor recruit members of the SMN protein complex. Transient expression of wild-type mouse coilin in knockout cells results in formation of CBs and restores these missing epitopes. Our data demonstrate that full-length coilin is essential for proper formation and/or maintenance of CBs and that recruitment of snRNP and SMN complex proteins to these nuclear subdomains requires sequences within the coilin COOH terminus."

complete
CACAO 3674

part_of

GO:0043204

perikaryon

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q06787

C

Seeded From UniProt

complete

part_of

GO:0043005

neuron projection

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q06787

C

Seeded From UniProt

complete

part_of

GO:0036464

cytoplasmic ribonucleoprotein granule

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q06787

C

Seeded From UniProt

complete

involved_in

GO:0006353

DNA-templated transcription, termination

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q16637

P

Seeded From UniProt

complete

part_of

GO:0097504

Gemini of coiled bodies

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q16637

C

Seeded From UniProt

complete

part_of

GO:0034719

SMN-Sm protein complex

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q16637

C

Seeded From UniProt

complete

part_of

GO:0032797

SMN complex

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q16637

C

Seeded From UniProt

complete

part_of

GO:0015030

Cajal body

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q16637

C

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q16637

C

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q16637

C

Seeded From UniProt

complete

involved_in

GO:0000387

spliceosomal snRNP assembly

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q16637

P

Seeded From UniProt

complete

part_of

GO:0097504

Gemini of coiled bodies

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q16637

C

Seeded From UniProt

complete

part_of

GO:0097504

Gemini of coiled bodies

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

RGD:620755

C

Seeded From UniProt

complete

part_of

GO:0043204

perikaryon

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q16637

C

Seeded From UniProt

complete

part_of

GO:0043005

neuron projection

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q16637

C

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q16637

F

Seeded From UniProt

complete

part_of

GO:0036464

cytoplasmic ribonucleoprotein granule

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q16637

C

Seeded From UniProt

complete

part_of

GO:0034719

SMN-Sm protein complex

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q16637

C

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0033120

positive regulation of RNA splicing

PMID:22037760[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0032797

SMN complex

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q16637

C

Seeded From UniProt

complete

enables

GO:0017134

fibroblast growth factor binding

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

RGD:620755

F

Seeded From UniProt

complete

part_of

GO:0015030

Cajal body

PMID:24067532[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0015030

Cajal body

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q16637

C

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0010975

regulation of neuron projection development

PMID:24067532[3]

ECO:0000316

genetic interaction evidence used in manual assertion

MGI:MGI:2179069

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007409

axonogenesis

PMID:20176735[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007019

microtubule depolymerization

PMID:20176735[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q16637

C

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

PMID:11181573[5]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q16637

C

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

RGD:620755

C

Seeded From UniProt

complete

part_of

GO:0005730

nucleolus

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

RGD:620755

C

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q16637

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:11181573[5]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q16637

C

Seeded From UniProt

complete

enables

GO:0003723

RNA binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR010304

F

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR010304

C

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR010304

C

Seeded From UniProt

complete

involved_in

GO:0006397

mRNA processing

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR010304

P

Seeded From UniProt

complete

involved_in

GO:0006397

mRNA processing

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0507

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0539

C

Seeded From UniProt

complete

involved_in

GO:0007399

nervous system development

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0524

P

Seeded From UniProt

complete

enables

GO:0003723

RNA binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0694

F

Seeded From UniProt

complete

involved_in

GO:0008380

RNA splicing

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0508

P

Seeded From UniProt

complete

part_of

GO:0042995

cell projection

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0966
UniProtKB-SubCell:SL-0280

C

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0963
UniProtKB-SubCell:SL-0086

C

Seeded From UniProt

complete

part_of

GO:0097504

Gemini of coiled bodies

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0127

C

Seeded From UniProt

complete

part_of

GO:0030018

Z disc

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0314

C

Seeded From UniProt

complete

part_of

GO:0043204

perikaryon

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0197

C

Seeded From UniProt

complete

part_of

GO:0015030

Cajal body

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0031

C

Seeded From UniProt

complete

edit table

Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ Tucker, KE et al. (2001) Residual Cajal bodies in coilin knockout mice fail to recruit Sm snRNPs and SMN, the spinal muscular atrophy gene product. J. Cell Biol. 154 293-307 PubMed GONUTS page
  2. ↑ Ruggiu, M et al. (2012) A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy. Mol. Cell. Biol. 32 126-38 PubMed GONUTS page
  3. ↑ 3.0 3.1 Sleigh, JN et al. (2014) Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy. Hum. Mol. Genet. 23 855-69 PubMed GONUTS page
  4. ↑ 4.0 4.1 Wen, HL et al. (2010) Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy. Hum. Mol. Genet. 19 1766-78 PubMed GONUTS page
  5. ↑ 5.0 5.1 Jablonka, S et al. (2001) Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy. Hum. Mol. Genet. 10 497-505 PubMed GONUTS page
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