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SMN1

Engineered Antibody
This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014]
Protein class

Disease related genes, FDA approved drug targets, Human disease related genes

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Club cells)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Cell line enhanced (MOLT-4, NB-4, T-47d, WM-115)

Interaction

Homooligomer; may form higher order homooligomers in the dimer to octamer range (PubMed:26092730, PubMed:10500148, PubMed:14715275, PubMed:21816274, PubMed:17178713, PubMed:23022347). Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP (PubMed:9323129, PubMed:17178713). 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, PubMed:10500148). Interacts with GEMIN2; the interaction is direct (PubMed:26092730, PubMed:10500148, PubMed:21816274, PubMed:31799625, PubMed:17178713, PubMed:22607171, PubMed:23022347). Interacts with GEMIN3; the interaction is direct (PubMed:17178713). Interacts with GEMIN8; the interaction is direct (PubMed:33754639, PubMed:17178713). Interacts with SNRPB; the interaction is direct (PubMed:10500148). Interacts (via Tudor domain) with SNRPD1 (via C-terminus); the interaction is direct (PubMed:10500148, PubMed:11135666). Interacts with SNRPD2; the interaction is direct (PubMed:10500148). Interacts (via Tudor domain) with SNRPD3 (via C-terminus); the interaction is direct (PubMed:10500148, PubMed:11135666, PubMed:22101937, PubMed:12628254). Interacts with SNRPE; the interaction is direct (PubMed:10500148). 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). Interacts with FRG1 (PubMed:17103222). [Isoform SMN-delta7]: Does not homooligomerize (PubMed:10500148). Does not interact with SNRPB (PubMed:10500148).

Molecular function

RNA-binding

More Types Infomation

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