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Gene: SMN1 (survival of motor neuron 1, telomeric) Homo sapiens
Symbol: SMN1
Name: survival of motor neuron 1, telomeric
Description: Exhibits identical protein binding activity. Involved in DNA-templated transcription, termination; spliceosomal complex assembly; and spliceosomal snRNP assembly. Localizes to several cellular components, including the SMN complex; nuclear body; and perikaryon. Implicated in Werdnig-Hoffmann disease; adult spinal muscular atrophy; intermediate spinal muscular atrophy; juvenile spinal muscular atrophy; and spinal muscular atrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BCD541; component of gems 1; gemin 1; gemin-1; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4; SMA@; SMN; SMN2; SMNT; spinal muscular atrophy (Werdnig-Hoffmann disease, Kugelberg-Welander disease); survival motor neuron 1 protein; survival motor neuron protein; survival of motor neuron 1 isoform D2A2B345; survival of motor neuron 1 isoform D2A2B3457; survival of motor neuron 1 isoform D2A3457; survival of motor neuron 1 isoform D2B3457; survival of motor neuron 1 isoform D345; survival of motor neuron 1 isoform D3457; survival of motor neuron 1 isoform D347; T-BCD541; TDRD16A; tudor domain containing 16A
Mus musculus (house mouse) : Smn1 (survival motor neuron 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Smn1 (survival of motor neuron 1, telomeric)  Alliance
Canis lupus familiaris (dog) : SMN (survival motor neuron)
Sus scrofa (pig) : SMN1 (survival of motor neuron 1, telomeric)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38570,924,941 - 70,953,015 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37570,220,768 - 70,248,839 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36570,256,524 - 70,284,593 (+)NCBINCBI36hg18NCBI36
Build 34570,256,523 - 70,284,593NCBI
Celera566,468,090 - 66,482,264 (-)NCBI
Cytogenetic Map5q13.2NCBI
HuRef565,881,629 - 65,882,701 (+)NCBIHuRef
CHM1_1569,671,936 - 69,700,004 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status



Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on SMN1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 736439
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.