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Gene: SMN1 (survival of motor neuron 1, telomeric) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on SMN1
Alliance Gene
NCBI 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



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