SMN1

SMN1
Dostupne strukture PDB Pretraga ortologa: PDBe RCSB Spisak PDB ID kodova 1G5V, 1MHN, 2LEH, 3S6N, 4A4E, 4A4G, 4GLI, 4NL6, 4NL7, 4QQ6
Identifikatori
Aliasi	SMN1
Vanjski ID-jevi	OMIM: 600354 MGI: 109257 HomoloGene: 292 GeneCards: SMN1
Lokacija gena (čovjek) Hrom. Hromosom 5 (čovjek)[1] Bend 5q13.2 Početak 70,925,030 bp[1] Kraj 70,953,942 bp[1]
Lokacija gena (miš) Hrom. Hromosom 13 (miš)[2] Bend 13 D1|13 52.99 cM Početak 100,261,360 bp[2] Kraj 100,274,198 bp[2]
Ontologija gena Molekularna funkcija • GO:0001948, GO:0016582 vezivanje za proteine • vezivanje sa RNK • vezivanje identičnih proteina Ćelijska komponenta • citoplazma • SMN-Sm protein complex • citosol • Cajal body • nukleoplazma • SMN complex • Z discdkac • neuron projection • cytoplasmic ribonucleoprotein granule • jedro • gemini of coiled bodies • perikaryon • projekcija ćelije Biološki proces • DNA-templated transcription, termination • mRNA processing • nervous system development • spliceosomal snRNP assembly • spliceosomal complex assembly • Prerada RNK • import into nucleus Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	6606	20595
Ensembl	ENSG00000275349 ENSG00000172062	ENSMUSG00000021645
UniProt	Q16637	P97801
RefSeq (mRNK)	NM_000344 NM_001297715 NM_022874	NM_001252629 NM_011420
RefSeq (bjelančevina)	NP_059107 NP_075013 NP_075014 NP_075015 NP_000335 NP_001284644 NP_075012	NP_001239558 NP_035550
Lokacija (UCSC)	Chr 5: 70.93 – 70.95 Mb	Chr 13: 100.26 – 100.27 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Gen 1 preživljavanja motornog neurona (SMN1), znan i kao komponenta GEMS-a 1 ili GEMIN1, jest gen koji se kod ljudi nalazi na hromosoma 5. Kodira protein SMN.^[5][6]

1. ^ ^{a b c} ENSG00000172062 GRCh38: Ensembl release 89: ENSG00000275349, ENSG00000172062 - Ensembl, maj 2017
2. ^ ^{a b c} GRCm38: Ensembl release 89: ENSMUSG00000021645 - Ensembl, maj 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.
5. ^ Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M (januar 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.
6. ^ "Entrez Gene: SMN1 survival of motor neuron 1, telomeric".