SMN1 report

I. Expression across cell types

Insufficient scRNA-seq data for expression of SMN1 at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of SMN1 at tissue level.

III. Associated gene sets

GO_0000387Biological processspliceosomal snRNP assembly
GO_0006353Biological processDNA-templated transcription termination
GO_0000245Biological processspliceosomal complex assembly
GO_0007399Biological processnervous system development
GO_0032797Cellular componentSMN complex
GO_0030018Cellular componentZ disc
GO_0036464Cellular componentcytoplasmic ribonucleoprotein granule
GO_0043204Cellular componentperikaryon
GO_0005654Cellular componentnucleoplasm
GO_0043005Cellular componentneuron projection
GO_0034719Cellular componentSMN-Sm protein complex
GO_0016604Cellular componentnuclear body
GO_0005829Cellular componentcytosol
GO_0005737Cellular componentcytoplasm
GO_0015030Cellular componentCajal body
GO_0097504Cellular componentGemini of coiled bodies
GO_0030424Cellular componentaxon
GO_0005634Cellular componentnucleus
GO_0042802Molecular functionidentical protein binding
GO_0003723Molecular functionRNA binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameSMN1
Protein nameSurvival motor neuron protein
Survival of motor neuron 1 isoform D2A3457 (Survival of motor neuron 2 isoform D2A3457)
Survival of motor neuron 1 isoform D2A2B345 (Survival of motor neuron 2 isoform D2A2B345)
Survival of motor neuron 1 isoform D347 (Survival of motor neuron 2 isoform D347)
Survival motor neuron protein (Survival of motor neuron 1, telomeric) (Survival of motor neuron 2, centromeric)
Survival motor neuron protein (Component of gems 1) (Gemin-1)
Survival motor neuron protein isoform h
Survival motor neuron protein isoform l
Survival of motor neuron 1 isoform D2B3457 (Survival of motor neuron 2 isoform D2B3457)
Survival motor neuron 1
SynonymsSMN2
SMN
SMNT;
SMNC
DescriptionFUNCTION: 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 . 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) . 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 . To assemble core snRNPs, the SMN complex accepts the trapped 5Sm proteins from CLNS1A forming an intermediate . Within the SMN complex, SMN1 acts as a structural backbone and together with GEMIN2 it gathers the Sm complex subunits . 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 . 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). .

AccessionsENST00000351205.8 [Q16637-1]
ENST00000380743.9 [Q16637-1]
ENST00000380742.8 [Q16637-2]
ENST00000627341.2 [Q16637-1]
I3QJX8
ENST00000618661.2 [Q16637-1]
ENST00000618251.4 [Q16637-1]
ENST00000612974.3
ENST00000626580.2
ENST00000619658.4
ENST00000628642.2 [Q16637-3]
E7EQZ4
A0A3G6V344
ENST00000625245.2
ENST00000629122.2 [Q16637-1]
ENST00000612446.4
ENST00000614610.2 [Q16637-1]
ENST00000506734.5
ENST00000631104.2
A0A3G6V4Y6
ENST00000614240.4 [Q16637-2]
ENST00000622739.2 [Q16637-1]
ENST00000629741.2
ENST00000511812.5
A0A3G6V6Q6
ENST00000628696.2
ENST00000610814.3
A0A0G2JRX5
B4DP61
ENST00000380707.9 [Q16637-1]
A0A3G6V326
ENST00000611442.4 [Q16637-2]
ENST00000624634.3 [Q16637-2]
A0A0G2JQN8
ENST00000503079.6 [Q16637-2]
ENST00000506163.5 [Q16637-3]
A0A411D760
ENST00000628043.2
ENST00000631131.2
ENST00000628353.2 [Q16637-3]
ENST00000626847.2 [Q16637-3]
ENST00000630432.2
ENST00000514951.5
I2E4T3
Q16637
I3QJX9
ENST00000506239.6
ENST00000380741.8 [Q16637-1]
ENST00000614773.4 [Q16637-2]
A0A0G2JRY6
ENST00000625687.2
I4BZJ7
ENST00000622158.4 [Q16637-2]