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Immunogen sequence: MAMSSGGSGG GVPEQEDSVL FRRGTGQSDD SDIWDDTALI KAYDKAVASF KHALKNGDIC ETSGKPKTTP KRKPAKKNKS QKKNTAASLQ QWKVGDKCSA IWSEDGCIYP ATIASIDFKR ETCVVVYTGY GNREEQNLSD LLSPICEVAN NIEQNAQENE NESQVSTDES ENSRSPGNKS DNIKPKSAPW NSFLPPP; Positive Samples: MCF7, HepG2, HeLa, 293T, SH-SY5Y, Mouse brain, Rat brain; Cellular Location: Cajal body, Cytoplasm, Cytoplasmic granule, Nucleus, Z line, gem, myofibril, sarcomere
The SMN1 gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein - survival motor neuron protein. The SMN complex plays a catalyst role in the assemble of small nuclear ribonucleoproteins, the building blocks of the spliceosome. Mutations in the SMN1 gene are known to cause spinal muscular atrophy 1/2.
蛋白别名: Component of gems 1; Gemin-1; survival motor neuron 1; survival motor neuron 1 protein; Survival motor neuron protein; survival of motor neuron protein; tudor domain containing 16A
基因别名: AI849087; BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4; SMA@; SMN; SMN1; SMN2; SMNC; SMNT; T-BCD541; TDRD16A
分子生物学功能: RNA splicing factor