full name
survival of motor neuron 1, telomeric

synonyms
BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMNT, T-BCD541, TDRD16A, SMN1, ENSG00000172062

HGNC
HGNC:11117

Entrez Gene
Gene:6606

ENSEMBL
ENSG00000172062

location
chr: 5
start: 70220768
stop: 70248839
strand: +

OMIM
OMIM:600354: SMN1 (Autosomal recessive inheritance)
OMIM:253300: Spinal muscular atrophy-1
OMIM:253550: Spinal muscular atrophy-2
OMIM:253400: Spinal muscular atrophy-3
OMIM:271150: Spinal muscular atrophy-4

transcripts
NM_000344.3
NM_022874.2

pathways
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Metabolism of non-coding RNA [NCBI:1269731] [REACTOME:R-HSA-194441]
RNA transport [NCBI:177876] [KEGG:hsa03013] [PUBMED:10872469] [PUBMED:17401408] [PUBMED:20733056] [PUBMED:11018020] [PUBMED:15519698] [PUBMED:16314458] [PUBMED:15901496] [PUBMED:9548260] [PUBMED:18313922]
snRNP Assembly [NCBI:1269732] [REACTOME:R-HSA-191859] [PUBMED:15130578]