SMN1

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 discdkac; 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".

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