SMN1 information

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; OMA:SMN1 - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	70,953,942 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	100,274,198 bp
RNA expression pattern
	Top expressed in
	ventricular zone; ; ganglionic eminence; ; canal of the cervix; ; left ovary; ; right ovary; ; Achilles tendon; ; endometrium; ; left uterine tube; ; ectocervix; ; tibial nerve;
	Top expressed in
	zygote; ; yolk sac; ; epiblast; ; morula; ; morula; ; tail of embryo; ; embryo; ; embryo; ; blastocyst; ; ventricular zone;
	More reference expression data
	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
	6606
	20595
	ENSG00000275349; ENSG00000172062
	ENSMUSG00000021645
	Q16637
	P97801
	NM_000344; NM_001297715; NM_022874
	NM_001252629; NM_011420
NP_059107; NP_075013; NP_075014; NP_075015; NP_000335;
	NP_001284644; NP_075012
	NP_001239558; NP_035550
	Wikidata
View/Edit Human	View/Edit Mouse

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]

^ ^a ^b ^c ENSG00000172062 GRCh38: Ensembl release 89: ENSG00000275349, ENSG00000172062 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021645 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M (January 1995). "Identification and characterization of a spinal muscular atrophy-determining gene". Cell. 80 (1): 155–65. doi:10.1016/0092-8674(95)90460-3. PMID 7813012.
^ "Entrez Gene: SMN1 survival of motor neuron 1, telomeric".

[refGRCh38Ensembl-1] ENSG00000172062 GRCh38: Ensembl release 89: ENSG00000275349, ENSG00000172062 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000021645 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid7813012-5] Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M (January 1995). "Identification and characterization of a spinal muscular atrophy-determining gene". Cell. 80 (1): 155–65. doi:10.1016/0092-8674(95)90460-3. PMID 7813012.

[entrez-6] "Entrez Gene: SMN1 survival of motor neuron 1, telomeric".

SMN1 information

and 24 Related for: SMN1 information

SMN1

Spinal muscular atrophy

Onasemnogene abeparvovec

Survival of motor neuron

Nusinersen

Spinal disease

Signal peptide

Progressive muscular atrophy

Risdiplam

Small nuclear RNA

Spinal muscular atrophies

SnRNP

Exonic splicing silencer

Ubiquitin

Heat shock protein

Ubiquitin ligase

Protein folding

Protein targeting

P53

Hsp70

Charlotte Sumner

SUMO protein

Chromosome 5

Chaperonin