Homo sapiens small G protein signaling modulator 3 (SGSM3), transcript - Nucleotide

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Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews. [J Med Genet. 2024]
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
Birnbaum R, Ezer S, Lotan NS, Eilat A, Sternlicht K, Benyamini L, Reish O, Falik-Zaccai T, Ben-Gad G, Rod R, et al. J Med Genet. 2024 Feb 21; 61(3):289-293. Epub 2024 Feb 21.
Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease. [Life Sci Alliance. 2022]
Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease.
Viard J, Loe-Mie Y, Daudin R, Khelfaoui M, Plancon C, Boland A, Tejedor F, Huganir RL, Kim E, Kinoshita M, et al. Life Sci Alliance. 2022 Aug 1; 5(12). Epub 2022 Aug 1.
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. [Cell. 2021]
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
Huttlin EL, Bruckner RJ, Navarrete-Perea J, Cannon JR, Baltier K, Gebreab F, Gygi MP, Thornock A, Zarraga G, Tam S, et al. Cell. 2021 May 27; 184(11):3022-3040.e28. Epub 2021 May 6.

RefSeq alternative splicing
See 18 reference mRNA sequence splice variants for the SGSM3 gene.
RefSeq protein product
See the reference protein sequence for small G protein signaling modulator 3 isoform 10 (NP_001336976.1).

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Protein sequence from Nucleotide coding region
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serine/threonine-protein kinase PAK 1 isoform 5 [Homo sapiens]
serine/threonine-protein kinase PAK 1 isoform 5 [Homo sapiens]
gi|1774959450|ref|NP_001363218.1|

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Nucleotide