Human Gene SMN1 (ENST00000380707.9_5) from GENCODE V47lift37
  Description: survival of motor neuron 1, telomeric, transcript variant d (from RefSeq NM_000344.4)
Gencode Transcript: ENST00000380707.9_5
Gencode Gene: ENSG00000172062.17_7
Transcript (Including UTRs)
   Position: hg19 chr5:70,220,914-70,248,842 Size: 27,929 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr5:70,220,931-70,247,818 Size: 26,888 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:70,220,914-70,248,842)mRNA (may differ from genome)Protein (294 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SMN_HUMAN
DESCRIPTION: RecName: Full=Survival motor neuron protein; AltName: Full=Component of gems 1; AltName: Full=Gemin-1;
FUNCTION: The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus. It may also play a role in the metabolism of snoRNPs.
SUBUNIT: Component of an import snRNP complex composed of KPNB1, RNUT1, SMN1 and ZNF259. Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts with DDX20, FBL, NOLA1, RNUT1, SYNCRIP and with several spliceosomal snRNP core Sm proteins, including SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE and ILF3. Interacts with OSTF1, LSM10 and LSM11.
INTERACTION: O14893:GEMIN2; NbExp=12; IntAct=EBI-395421, EBI-443648; Q8TEQ6:GEMIN5; NbExp=7; IntAct=EBI-395421, EBI-443630; Q14974:KPNB1; NbExp=5; IntAct=EBI-395447, EBI-286758; P14678-1:SNRPB; NbExp=3; IntAct=EBI-395447, EBI-372471;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus, gem. Note=Localized in subnuclear structures next to coiled bodies, called Gemini of Cajal bodies (Gems).
TISSUE SPECIFICITY: 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).
DOMAIN: The Tudor domain mediates association with dimethylarginines, which are common in snRNP proteins.
DISEASE: Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 1 (SMA1) [MIM:253300]. Spinal muscular atrophy refers to a group of neuromuscular disorders 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.
DISEASE: Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 2 (SMA2) [MIM:253550]. SMA2 is an autosomal recessive spinal muscular atrophy of intermediate severity, with onset between 6 and 18 months. Patients do not reach the motor milestone of standing, and survive into adulthood.
DISEASE: Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 3 (SMA3) [MIM:253400]. SMA3 is an autosomal recessive spinal muscular atrophy with onset after 18 months. SMA3 patients develop ability to stand and walk and survive into adulthood.
DISEASE: Defects in SMN1 are the cause of spinal muscular atrophy autosomal recessive type 4 (SMA4) [MIM:271150]. SMA4 is an autosomal recessive spinal muscular atrophy characterized by symmetric proximal muscle weakness with onset in adulthood and slow disease progression. SMA4 patients can stand and walk.
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.
SIMILARITY: Belongs to the SMN family.
SIMILARITY: Contains 1 Tudor domain.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SMN1";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SMN2";
WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=SMN1";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SMN1
Diseases sorted by gene-association score: spinal muscular atrophy-3* (1600), spinal muscular atrophy-1* (1598), spinal muscular atrophy-2* (1597), spinal muscular atrophy-4* (1273), spinal muscular atrophy* (589), muscular atrophy (75), progressive muscular atrophy (22), proximal spinal muscular atrophy (19), survival motor neuron spinal muscular atrophy (18), motor neuron disease (17), anterior horn cell disease (17), neuromuscular disease (12), setx (10), muscle tissue disease (10), differentiating neuroblastoma (8), amyotrophic lateral sclerosis-parkinsonism/dementia complex (6), tay-sachs disease (5), distal arthrogryposis (4), amyotrophic lateral sclerosis 1 (2), peripheral nervous system disease (1), nervous system disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.43 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 147.12 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -3.2017-0.188 Picture PostScript Text
3' UTR -119.80580-0.207 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010304 - Survival_motor_neuron
IPR002999 - Tudor

Pfam Domains:
PF06003 - Survival motor neuron protein (SMN)

SCOP Domains:
54160 - Chromo domain-like
63748 - Tudor/PWWP/MBT

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1G5V - NMR MuPIT 1MHN - X-ray MuPIT 2LEH - NMR MuPIT 3S6N - X-ray MuPIT 4A4E - NMR MuPIT 4A4G - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q16637
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0042802 identical protein binding

Biological Process:
GO:0000245 spliceosomal complex assembly
GO:0000387 spliceosomal snRNP assembly
GO:0006353 DNA-templated transcription, termination
GO:0006397 mRNA processing
GO:0007399 nervous system development
GO:0008380 RNA splicing
GO:0051170 nuclear import

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0015030 Cajal body
GO:0030018 Z disc
GO:0032797 SMN complex
GO:0034719 SMN-Sm protein complex
GO:0036464 cytoplasmic ribonucleoprotein granule
GO:0042995 cell projection
GO:0043005 neuron projection
GO:0043204 perikaryon
GO:0097504 Gemini of coiled bodies


-  Descriptions from all associated GenBank mRNAs
  MH500503 - Homo sapiens clone M304 KE10 C6-7-8A-9tr1-10 circRNA, complete sequence.
MH500504 - Homo sapiens clone M305 KE10 C6-7-8A-10 circRNA, complete sequence.
MH500449 - Homo sapiens survival motor neuron 1 (SMN1) mRNA, partial cds, alternatively spliced.
MH500450 - Homo sapiens survival motor neuron 1 (SMN1) mRNA, partial cds, alternatively spliced.
MH500456 - Homo sapiens clone M112 KE6 C6-7-8A-9-10 circRNA, complete sequence.
MH500457 - Homo sapiens clone M113 KE6 C6-7-8A-9tr1-10 circRNA, complete sequence.
MH500464 - Homo sapiens clone M135 KE6 C6-10 circRNA, complete sequence.
MH500506 - Homo sapiens clone M374 HE6 C6-7-8A-10 circRNA, complete sequence.
MH500520 - Homo sapiens clone HE6 circRNA, complete sequence.
MH500447 - Homo sapiens survival motor neuron 1 (SMN1) mRNA, partial cds, alternatively spliced.
MH500448 - Homo sapiens survival motor neuron 1 (SMN1) mRNA, partial cds, alternatively spliced.
MH500469 - Homo sapiens clone M162 KE6B C6-6B-7-8A-9tr1-10 circRNA, complete sequence.
MH500474 - Homo sapiens clone M211 KE7 C6-7-8A-9tr1-10 circRNA, complete sequence.
MH500476 - Homo sapiens clone M214 KE7 C6-7-8A-10 circRNA, complete sequence.
MH500477 - Homo sapiens clone M217 KE7 C6-7ci1-8(130)-10 circRNA, complete sequence.
MH500512 - Homo sapiens clone M422 GE8A C7-8A-11-12 circRNA, complete sequence.
LP896352 - Sequence 1216 from Patent EP3253886.
AK298203 - Homo sapiens cDNA FLJ60754 complete cds, moderately similar to Survival motor neuron protein.
AK289669 - Homo sapiens cDNA FLJ76644 complete cds, highly similar to Homo sapiens survival of motor neuron 2, centromeric (SMN2), transcript variant a, mRNA.
U18423 - Human spinal muscular atrophy gene product mRNA, complete cds.
BC000908 - Homo sapiens survival of motor neuron 2, centromeric, mRNA (cDNA clone MGC:5208 IMAGE:2985046), complete cds.
LV532076 - JP 2016539916-A/4: CNS DELIVERY OF MRNA AND USES THEREOF.
BC015308 - Homo sapiens survival of motor neuron 2, centromeric, mRNA (cDNA clone MGC:20996 IMAGE:4427000), complete cds.
BC062723 - Homo sapiens survival of motor neuron 1, telomeric, mRNA (cDNA clone MGC:72037 IMAGE:4250429), complete cds.
LV532073 - JP 2016539916-A/1: CNS DELIVERY OF MRNA AND USES THEREOF.
BC070242 - Homo sapiens survival of motor neuron 2, centromeric, mRNA (cDNA clone MGC:88227 IMAGE:4673318), complete cds.
CU674452 - Synthetic construct Homo sapiens gateway clone IMAGE:100016965 5' read SMN1 mRNA.
AB590961 - Synthetic construct DNA, clone: pFN21AE1786, Homo sapiens SMN1 gene for survival of motor neuron 1, telomeric, without stop codon, in Flexi system.
DQ894734 - Synthetic construct Homo sapiens clone IMAGE:100009194; FLH177922.01L; RZPDo839F06125D survival of motor neuron 1, telomeric (SMN1) gene, encodes complete protein.
DQ891546 - Synthetic construct clone IMAGE:100004176; FLH177926.01X; RZPDo839F06126D survival of motor neuron 1, telomeric (SMN1) gene, encodes complete protein.
KJ897584 - Synthetic construct Homo sapiens clone ccsbBroadEn_06978 SMN2 gene, encodes complete protein.
DQ894095 - Synthetic construct Homo sapiens clone IMAGE:100008555; FLH167640.01L; RZPDo839D0689D survival of motor neuron 1, telomeric (SMN1) gene, encodes complete protein.
KJ897583 - Synthetic construct Homo sapiens clone ccsbBroadEn_06977 SMN2 gene, encodes complete protein.
EU176224 - Synthetic construct Homo sapiens clone IMAGE:100006603; FLH263992.01X; RZPDo839F07245D survival of motor neuron 1, telomeric (SMN1) gene, encodes complete protein.
EU176225 - Synthetic construct Homo sapiens clone IMAGE:100006605; FLH263996.01X; RZPDo839F08245D survival of motor neuron 2, centromeric (SMN2) gene, encodes complete protein.
U21914 - Homo sapiens putative open reading frame; duplicate of the functional spinal muscular atrophy gene, cDNA clone BCD514, GenBank Accession Number U18423; it is not known if this copy of the gene is actually translated mRNA, partial cds.
JQ657798 - Homo sapiens survival motor neuron 1 protein isoform b (SMN1) mRNA, partial cds, alternatively spliced.
JQ657799 - Homo sapiens survival motor neuron 1 protein isoform c (SMN1) mRNA, partial cds, alternatively spliced.
JQ657800 - Homo sapiens survival motor neuron 1 protein isoform e (SMN1) mRNA, partial cds, alternatively spliced.
JQ657801 - Homo sapiens survival motor neuron 1 protein isoform f (SMN1) mRNA, partial cds, alternatively spliced.
JQ657802 - Homo sapiens survival motor neuron 1 protein isoform b (SMN1) mRNA, partial cds, alternatively spliced.
JQ657803 - Homo sapiens survival motor neuron 1 protein isoform g (SMN1) mRNA, partial cds, alternatively spliced.
JQ732166 - Homo sapiens survival motor neuron protein isoform k (SMN1) mRNA, partial cds.
JQ732167 - Homo sapiens survival motor neuron protein isoform k (SMN2) mRNA, partial cds.
JQ690861 - Homo sapiens survival motor neuron protein isoform e (SMN2) mRNA, exons 2b, 4 through 8 and partial cds, alternatively spliced.
JQ690862 - Homo sapiens survival motor neuron protein isoform h (SMN2) mRNA, exons 2b, 4 through 6, 8 and partial cds, alternatively spliced.
JQ690863 - Homo sapiens survival motor neuron protein isoform i (SMN2) mRNA, exons 2b, 4, 6, 8 and partial cds, alternatively spliced.
JQ690864 - Homo sapiens survival motor neuron protein isoform j (SMN2) mRNA, exons 2b, 3, 5, 6, 8 and partial cds, alternatively spliced.
JQ690865 - Homo sapiens survival motor neuron protein isoform c (SMN2) mRNA, exons 2b through 4, 6, 8 and partial cds, alternatively spliced.
JQ690866 - Homo sapiens survival motor neuron protein isoform g (SMN2) mRNA, exons 2b, 4, 6 through 8 and partial cds, alternatively spliced.
JQ690867 - Homo sapiens survival motor neuron protein isoform h (SMN1) mRNA, exons 2b, 4 through 6, 8 and partial cds, alternatively spliced.
JQ690868 - Homo sapiens survival motor neuron protein isoform i (SMN1) mRNA, exons 2b, 4, 6, 8 and partial cds, alternatively spliced.
JQ745297 - Homo sapiens survival motor neuron protein isoform l (SMN1) mRNA, partial cds.
KU524731 - Homo sapiens telomeric survival of motor neuron 1 isoform 6B (SMN1) mRNA, partial cds.
KU524732 - Homo sapiens cetromeric survival of motor neuron 2 isoform 6BDelta7 (SMN2) mRNA, partial cds.
DQ185039 - Homo sapiens survival of motor neuron 2 variant 1 (SMN2) mRNA, 3' UTR.
JD328702 - Sequence 309726 from Patent EP1572962.
JD452397 - Sequence 433421 from Patent EP1572962.
JD533332 - Sequence 514356 from Patent EP1572962.
MH500526 - Homo sapiens clone KE2A C2A-2B-SER1B(E2) circRNA, complete sequence.
MH500530 - Homo sapiens clone SE2A C1tr(87)-2A-2B(95) circRNA, complete sequence.
MH500529 - Homo sapiens clone SE2A C1tr(87)-2A-2B(95)(2X) circRNA, complete sequence.
MH500423 - Homo sapiens clone M030 HE2B C1tr1-2A-2B circRNA, complete sequence.
MH500414 - Homo sapiens clone M016 SE2A C1tr1-2A circRNA, complete sequence.
MH500415 - Homo sapiens clone M017 HE2A C1tr(33)-2A(67) circRNA, complete sequence.
MH500525 - Homo sapiens clone HE2A CI1(98)-2A circRNA, complete sequence.
MH500413 - Homo sapiens clone M015 KE2A CI1(NE2-79)-2A circRNA, complete sequence.
MH500527 - Homo sapiens clone KE2A CI1(79)-2A circRNA, complete sequence.
MH500517 - Homo sapiens clone GE2A CI1(NE3-33)-2A circRNA, complete sequence.
MH500528 - Homo sapiens clone GE2A CI1(33)-2A circRNA, complete sequence.
MH500422 - Homo sapiens clone M029 KE2B C2A-2B circRNA, complete sequence.
MH500521 - Homo sapiens clone HE2B C2A-2B(2X) circRNA, complete sequence.
MH500427 - Homo sapiens clone M047 KE3 C2A-2B-3-4 circRNA, complete sequence.
MH500436 - Homo sapiens clone M062 KE4 C2A-2B-3-4 circRNA, complete sequence.
MH500442 - Homo sapiens clone M072 HE4 C2A-2B-4 circRNA, complete sequence.
MH500515 - Homo sapiens clone SE2A C2A-2B-3-4-5 circRNA, complete sequence.
MH500514 - Homo sapiens clone SE2A C2A-2B-3-4-5-6 circRNA, complete sequence.
MH500516 - Homo sapiens clone SE2A C2A-2B-3-4-6 circRNA, complete sequence.
MH500408 - Homo sapiens clone M009 KE2A_2-1 circRNA, complete sequence.
MH500411 - Homo sapiens clone M013 KE2A C2A-2B-4 circRNA, complete sequence.
MH500410 - Homo sapiens clone M012 KE2A C2A-2B-4-6 circRNA, complete sequence.
MH500412 - Homo sapiens clone M014 KE2A C2A-2B-6 circRNA, complete sequence.
MH500428 - Homo sapiens clone M048 KE3 C2B-3-4 circRNA, complete sequence.
MH500430 - Homo sapiens clone M052 KE3 C2B-3 circRNA, complete sequence.
MH500437 - Homo sapiens clone M063 KE4 C2B-3-4 circRNA, complete sequence.
MH500532 - Homo sapiens clone HE2B C2Atr(28)-2B-3(96) circRNA, complete sequence.
MH500535 - Homo sapiens clone SE2B C2Atr(40)-2B-3(156) circRNA, complete sequence.
MH500425 - Homo sapiens clone M035 SE2B C2B-3 circRNA, complete sequence.
MH500534 - Homo sapiens clone SE2B C2A-2B-3-4 circRNA, complete sequence.
MH500417 - Homo sapiens clone M021 KE2B C2A-2B-3-4 circRNA, complete sequence.
MH500418 - Homo sapiens clone M022 KE2B C2B-3-4 circRNA, complete sequence.
MH500420 - Homo sapiens clone M026 KE2B C2A-2B-4 circRNA, complete sequence.
MH500533 - Homo sapiens clone SE2B CI1(33)-2A-2B-3-4 circRNA, complete sequence.
MH500531 - Homo sapiens clone HE2B C2A-2B-4-6(61) circRNA, complete sequence.
MH500416 - Homo sapiens clone M019 KE2B C2A-2B-3-4-6 circRNA, complete sequence.
MH500419 - Homo sapiens clone M023 KE2B C2A-2B-4-6 circRNA, complete sequence.
MH500421 - Homo sapiens clone M028 KE2B C2A-2B-6 circRNA, complete sequence.
MH500518 - Homo sapiens clone SE2B C2A-2B-3-4-5-6 circRNA, complete sequence.
MH500438 - Homo sapiens clone M064 KE4 C3-4 circRNA, complete sequence.
MH500451 - Homo sapiens clone M095 SE5 C3-4-5 circRNA, complete sequence.
MH500440 - Homo sapiens clone M066 KE4 C3tr(117)-4 circRNA, complete sequence.
MH500443 - Homo sapiens clone M074 GE4 C3tr(76)-4 circRNA, complete sequence.
MH500434 - Homo sapiens clone M057 SE3 C2Btr(30)-3-4(18) circRNA, complete sequence.
MH500431 - Homo sapiens clone M054 KE3 C2Btr(9)-3-4(36) circRNA, complete sequence.
MH500435 - Homo sapiens clone M059 SE3 C2Btr(7)-3-4(36) circRNA, complete sequence.
MH500433 - Homo sapiens clone M056 SE3 C2Btr(7)-3-4(60) circRNA, complete sequence.
MH500428 - Homo sapiens clone M048 KE3 C2B-3-4 circRNA, complete sequence.
MH500429 - Homo sapiens clone M049 KE3 C3-4 circRNA, complete sequence.
MH500439 - Homo sapiens clone M065 KE4 2xC4 circRNA, complete sequence.
MH500452 - Homo sapiens clone M096 SE5 C4tr(146)-5 circRNA, complete sequence.
MH500536 - Homo sapiens clone SE5 circRNA, complete sequence.
MH500481 - Homo sapiens clone M227 KE7 C5-6-7 circRNA, complete sequence.
MH500445 - Homo sapiens clone M078 KE5 C5-6 circRNA, complete sequence.
MH500454 - Homo sapiens clone M102 GE5 C4tr(79)-5-6-8(224) circRNA, complete sequence.
MH500537 - Homo sapiens clone SE5 C4tr(15)-5-6-8(279) circRNA, complete sequence.
MH500491 - Homo sapiens clone M267 KE8A C6-7-8A-9tr1 circRNA, complete sequence.
MH500493 - Homo sapiens clone M269 KE8A C6-7-8A-9 circRNA, complete sequence.
MH500494 - Homo sapiens clone M270 KE8A C6-7-8A-9tr1 circRNA, complete sequence.
MH500500 - Homo sapiens clone M290 KE8A C6-8A-9 circRNA, complete sequence.
MH500502 - Homo sapiens clone M295 HE8A C6-7-8A-10 circRNA, complete sequence.
MH500472 - Homo sapiens clone M179 KE6B C6-6B circRNA, complete sequence.
MH500475 - Homo sapiens clone M213 KE7 C6-6B-7-8A circRNA, complete sequence.
MH500480 - Homo sapiens clone M226 KE7 C6-7-8A circRNA, complete sequence.
MH500462 - Homo sapiens clone M132 KE6 C6-6B circRNA, complete sequence.
MH500461 - Homo sapiens clone M127 HE6 C6-7-8A circRNA, complete sequence.
MH500463 - Homo sapiens clone M133 GE6 C6-8A circRNA, complete sequence.
MH500507 - Homo sapiens clone M375 HE6 C6-6B-7-8A circRNA, complete sequence.
MH500468 - Homo sapiens clone M159 SE6 C5tr(40)-6-7-8(267) circRNA, complete sequence.
MH500458 - Homo sapiens clone M114 SE6 C6-6B-7-8A-9tr1 circRNA, complete sequence.
MH500459 - Homo sapiens clone M117 KE6 C6-7-8A-9tr1 circRNA, complete sequence.
MH500483 - Homo sapiens clone M231 KE7 C6B-7 circRNA, complete sequence.
MH500540 - Homo sapiens clone KE8 circRNA, complete sequence.
MH500485 - Homo sapiens clone M239 HE7 C6tr(21)-7-8(73) circRNA, complete sequence.
MH500487 - Homo sapiens clone M259 SE7 C6tr(42)-7-8(98) circRNA, complete sequence.
MH500484 - Homo sapiens clone M238 HE7 C7cp(1)-8(99) circRNA, complete sequence.
MH500482 - Homo sapiens clone M228 KE7 C7-8A circRNA, complete sequence.
MH500488 - Homo sapiens clone M261 KE7 C6tr(35)7-8(169) circRNA, complete sequence.
MH500539 - Homo sapiens clone HE8 C8(462) circRNA, complete sequence.
MH500513 - Homo sapiens clone M406 HE8A C8A-9tr1 circRNA, complete sequence.
MK131047 - Homo sapiens C6(2X) circRNA, complete sequence.
MK131048 - Homo sapiens C6-6Btr(105) circRNA, complete sequence.
MK131046 - Homo sapiens C6-7 circRNA, complete sequence.
MK131042 - Homo sapiens C6-7-8(162) circRNA, complete sequence.
MH001580 - Homo sapiens survival of motor neuron 1 isoform D2A2B345 (SMN1) mRNA, complete cds, alternatively spliced.
MH001581 - Homo sapiens survival of motor neuron 1 isoform D2A2B3457 (SMN1) mRNA, complete cds, alternatively spliced.
MH001582 - Homo sapiens survival of motor neuron 1 isoform D2A3457 (SMN1) mRNA, complete cds, alternatively spliced.
MH001583 - Homo sapiens survival of motor neuron 1 isoform D2B3457 (SMN1) mRNA, complete cds, alternatively spliced.
MH001584 - Homo sapiens survival of motor neuron 1 isoform D345 (SMN1) mRNA, complete cds, alternatively spliced.
MH001585 - Homo sapiens survival of motor neuron 1 isoform D347 (SMN1) mRNA, complete cds, alternatively spliced.
MH001586 - Homo sapiens survival of motor neuron 1 isoform D3457 (SMN1) mRNA, complete cds, alternatively spliced.
MH001587 - Homo sapiens survival of motor neuron 2 isoform D2A2B345 (SMN2) mRNA, complete cds, alternatively spliced.
MH001588 - Homo sapiens survival of motor neuron 2 isoform D2A2B3457 (SMN2) mRNA, complete cds, alternatively spliced.
MH001589 - Homo sapiens survival of motor neuron 2 isoform D2A3457 (SMN2) mRNA, complete cds, alternatively spliced.
MH001590 - Homo sapiens survival of motor neuron 2 isoform D2B3457 (SMN2) mRNA, complete cds, alternatively spliced.
MH001591 - Homo sapiens survival of motor neuron 2 isoform D345 (SMN2) mRNA, complete cds, alternatively spliced.
MH001592 - Homo sapiens survival of motor neuron 2 isoform D347 (SMN2) mRNA, complete cds, alternatively spliced.
MH001593 - Homo sapiens survival of motor neuron 2 isoform D3457 (SMN2) mRNA, complete cds, alternatively spliced.
MK313129 - Homo sapiens C6-6B-7-8A-9tr1 circRNA, complete sequence.
MK313130 - Homo sapiens C7-8(163) circRNA, complete sequence.
MB425615 - JP 2019522972-A/1580: Pre-mRNA splice switching or modulating oligonucleotides comprising bicyclic scaffold moieties, with improved characteristics for the treatment of genetic disorders.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q16637 (Reactome details) participates in the following event(s):

R-HSA-191790 Loading and methylation of Sm proteins onto SMN Complexes
R-HSA-191830 snRNP nuclear import and release
R-HSA-191786 snRNP complex assembly
R-HSA-191763 snRNP:Snurportin complex formation
R-HSA-191784 snRNA Cap hypermethylation
R-HSA-191859 snRNP Assembly
R-HSA-194441 Metabolism of non-coding RNA
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: A8K0V4, ENST00000380707.1, ENST00000380707.2, ENST00000380707.3, ENST00000380707.4, ENST00000380707.5, ENST00000380707.6, ENST00000380707.7, ENST00000380707.8, NM_000344, Q13119, Q16637, Q549U5, Q96J51, SMN, SMN2, SMNC, SMNT, SMN_HUMAN, uc318pty.1, uc318pty.2
UCSC ID: ENST00000380707.9_5
RefSeq Accession: NM_000344.4
Protein: Q16637 (aka SMN_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SMN1:
sma (Spinal Muscular Atrophy)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.