SMN1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1G5V, 1MHN, 2LEH, 3S6N, 4A4E, 4A4G, 4GLI, 4NL6, 4NL7, 4QQ6
Identifiers
Aliases	SMN1, BCD541, GEMIN1, SMNT, T-BCD541, TDRD16A, survival of motor neuron 1, telomeric, survival motor neuron 1, telomeric, SMA1, SMA4, SMA@, SMA2, SMA, SMA3, SMN
External IDs	OMIM: 600354 MGI: 109257 HomoloGene: 292 GeneCards: SMN1
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q13.2 Start 70,925,030 bp[1] End 70,953,942 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 D1|13 52.99 cM Start 100,261,360 bp[2] End 100,274,198 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence canal of the cervix Achilles tendon endometrium left uterine tube tibial nerve vagina myometrium anterior pituitary placenta Top expressed in yolk sac morula secondary oocyte somite maxillary prominence neural tube ganglionic eminence medial ganglionic eminence thymus lip More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding RNA binding identical protein binding Cellular component cytoplasm SMN-Sm protein complex cytosol Cajal body nucleoplasm SMN complex Z disc neuron projection cytoplasmic ribonucleoprotein granule nucleus gemini of coiled bodies perikaryon cell projection Biological process DNA-templated transcription, termination mRNA processing nervous system development spliceosomal snRNP assembly spliceosomal complex assembly RNA splicing import into nucleus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6606 20595 Ensembl ENSG00000275349 ENSG00000172062 ENSMUSG00000021645 UniProt Q16637 P97801 RefSeq (mRNA) NM_000344 NM_001297715 NM_022874 NM_001252629 NM_011420 RefSeq (protein) NP_059107 NP_075013 NP_075014 NP_075015 NP_000335 NP_001284644 NP_075012 NP_001239558 NP_035550 Location (UCSC) Chr 5: 70.93 – 70.95 Mb Chr 13: 100.26 – 100.27 Mb PubMed search [3] [4]
Wikidata
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Survival of motor neuron 1 (SMN1), also known as component of gems 1 or GEMIN1, is a gene that encodes the SMN protein in humans.^[5][6]

Gene

SMN1 is the telomeric copy of the gene encoding the SMN protein; the centromeric copy is termed SMN2. SMN1 and SMN2 are part of a 500 kbp 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. SMN1 and SMN2 are nearly identical and encode the same protein.^[6] The critical sequence difference between the two is a single nucleotide in exon 7 which is thought to be an exon splice enhancer. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene.^[6]

Clinical significance

Mutations in SMN1 are associated with spinal muscular atrophy. Mutations in SMN2 alone do not lead to disease, although mutations in both SMN1 and SMN2 result in embryonic death.^{[citation needed]}