======= GEMIN5 ======= == Gene Information == * **Official Symbol**: GEMIN5 * **Official Name**: gem nuclear organelle associated protein 5 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=25929|25929]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q8TEQ6|Q8TEQ6]] * **Interactions**: [[https://thebiogrid.org/search.php?search=GEMIN5&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GEMIN5|Open PubMed]] * **OMIM**: [[https://omim.org/entry/607005|Open OMIM]] == Function Summary == * **Entrez Summary**: This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. * **UniProt Summary**: Required for the assembly of the SMN complex that plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:16857593, PubMed:18984161, PubMed:20513430). Thereby, plays an important role in the splicing of cellular pre- mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP (PubMed:18984161). Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus (PubMed:18984161). GEMIN5 acts as the snRNA-binding protein of the SMN complex (PubMed:11714716, PubMed:16857593, PubMed:19377484, PubMed:19750007, PubMed:20513430, PubMed:27834343, PubMed:27881600, PubMed:27881601). Binds to the 7-methylguanosine cap of RNA molecules (PubMed:19750007, PubMed:27834343, PubMed:27881600, PubMed:27881601, Ref.25). Binds to the 3'-UTR of SMN1 mRNA and regulates its translation; does not affect mRNA stability (PubMed:25911097). May play a role in the regulation of protein synthesis via its interaction with ribosomes (PubMed:27507887). {ECO:0000269|PubMed:11714716, ECO:0000269|PubMed:16857593, ECO:0000269|PubMed:18984161, ECO:0000269|PubMed:19377484, ECO:0000269|PubMed:19750007, ECO:0000269|PubMed:20513430, ECO:0000269|PubMed:25911097, ECO:0000269|PubMed:27507887, ECO:0000269|PubMed:27834343, ECO:0000269|PubMed:27881600, ECO:0000269|PubMed:27881601, ECO:0000269|Ref.25}. |WD40| |SMN-Gemin2 complex| |U4atac snRNA binding| |U4 snRNA binding| |snRNA binding| |U1 snRNA binding| |SMN complex| |Gemini of coiled bodies| |RNA 7-methylguanosine cap binding| |SMN-Sm protein complex| |spliceosomal snRNP assembly| |ribosome binding| |cytosolic large ribosomal subunit| |mRNA 3-UTR binding| |import into nucleus| |ribonucleoprotein complex assembly| |ribonucleoprotein complex subunit organization| |nucleocytoplasmic transport| |nuclear transport| |nuclear body| |mRNA splicing, via spliceosome| |RNA splicing, via transesterification reactions with bulged adenosine as nucleophile| |RNA splicing, via transesterification reactions| |regulation of translation| |translation| |RNA splicing| |regulation of cellular amide metabolic process| |peptide biosynthetic process| |ribonucleoprotein complex biogenesis| |mRNA processing| |posttranscriptional regulation of gene expression| |amide biosynthetic process| |peptide metabolic process| |mRNA metabolic process| |cellular amide metabolic process| |cellular protein-containing complex assembly| |RNA processing| |RNA binding| |organonitrogen compound biosynthetic process| |intracellular transport| |protein-containing complex assembly| |cellular nitrogen compound biosynthetic process| |RNA metabolic process| |cellular macromolecule biosynthetic process| |macromolecule biosynthetic process| |establishment of localization in cell| |protein-containing complex subunit organization| |membrane| |gene expression| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp23|Nocodazole 0.02μM R00 exp23]]|-2.03| |[[:results:exp27|Pimelic-diphenylamide-106 0.5μM R00 exp27]]|-2.02| |[[:results:exp359|FK-506 30μM R07 exp359]]|-1.98| |[[:results:exp245|UM0011500 5μM R05 exp245]]|-1.95| |[[:results:exp287|HMS-I2 5μM R06 exp287]]|-1.93| |[[:results:exp241|QNZ 0.01μM R05 exp241]]|-1.85| |[[:results:exp198|Etoposide 0.1μM R05 exp198]]|-1.84| |[[:results:exp242|Radicicol 0.16μM R05 exp242]]|-1.82| |[[:results:exp25|Oligomycin-A 2μM R00 exp25]]|-1.81| |[[:results:exp380|NMS-873 0.07μM R07 exp380]]|-1.79| |[[:results:exp230|Epigallocatechin gallate 20μM R05 exp230]]|-1.77| |[[:results:exp1|5-Fluorouracil 2μM R00 exp1]]|-1.76| |[[:results:exp461|BS-181 20μM R08 exp461]]|-1.76| |[[:results:exp13|Chloramphenicol 20μM R00 exp13]]|-1.71| ^Gene^Correlation^ |[[:human genes:h:hars|HARS]]|0.696| |[[:human genes:g:gtf3c2|GTF3C2]]|0.55| |[[:human genes:p:pmm2|PMM2]]|0.53| |[[:human genes:n:nsmce1|NSMCE1]]|0.529| |[[:human genes:d:ddx20|DDX20]]|0.525| |[[:human genes:g:gmppb|GMPPB]]|0.525| |[[:human genes:n:nae1|NAE1]]|0.516| |[[:human genes:r:rtcb|RTCB]]|0.51| |[[:human genes:d:dpagt1|DPAGT1]]|0.509| |[[:human genes:r:rpp21|RPP21]]|0.504| |[[:human genes:y:yars|YARS]]|0.502| |[[:human genes:p:psmg4|PSMG4]]|0.498| |[[:human genes:g:gtf3c3|GTF3C3]]|0.488| |[[:human genes:r:rnmt|RNMT]]|0.481| |[[:human genes:a:alg14|ALG14]]|0.481| |[[:human genes:e:eno1|ENO1]]|0.48| |[[:human genes:g:gfpt1|GFPT1]]|0.476| |[[:human genes:v:vezt|VEZT]]|0.475| |[[:human genes:u:utp23|UTP23]]|0.475| |[[:human genes:t:triap1|TRIAP1]]|0.472| |[[:human genes:r:rad1|RAD1]]|0.469| |[[:human genes:t:tgs1|TGS1]]|0.464| |[[:human genes:t:thg1l|THG1L]]|0.459| |[[:human genes:p:pelo|PELO]]|0.457| |[[:human genes:c:cct7|CCT7]]|0.456| |[[:human genes:e:exoc3|EXOC3]]|0.453| |[[:human genes:t:trmt5|TRMT5]]|0.453| |[[:human genes:u:uap1|UAP1]]|0.452| |[[:human genes:a:alg2|ALG2]]|0.452| |[[:human genes:g:gtf3c6|GTF3C6]]|0.45| |[[:human genes:v:vrk1|VRK1]]|0.45| |[[:human genes:u:uxt|UXT]]|0.449| |[[:human genes:n:nars|NARS]]|0.449| |[[:human genes:e:eprs|EPRS]]|0.448| |[[:human genes:s:snapc5|SNAPC5]]|0.447| |[[:human genes:a:alg1|ALG1]]|0.447| |[[:human genes:s:srp14|SRP14]]|0.447| |[[:human genes:t:txnl4b|TXNL4B]]|0.445| |[[:human genes:r:rpe|RPE]]|0.444| |[[:human genes:s:srp68|SRP68]]|0.443| |[[:human genes:a:atxn10|ATXN10]]|0.435| |[[:human genes:t:telo2|TELO2]]|0.433| |[[:human genes:d:dad1|DAD1]]|0.432| |[[:human genes:u:uhrf1|UHRF1]]|0.431| |[[:human genes:h:haus8|HAUS8]]|0.429| |[[:human genes:g:gemin8|GEMIN8]]|0.429| |[[:human genes:p:pam16|PAM16]]|0.428| |[[:human genes:a:adsl|ADSL]]|0.428| |[[:human genes:r:rabggtb|RABGGTB]]|0.426| |[[:human genes:o:osgep|OSGEP]]|0.426| |[[:human genes:g:gtf3c4|GTF3C4]]|0.426| |[[:human genes:z:zrsr2|ZRSR2]]|0.425| |[[:human genes:m:mars|MARS]]|0.423| |[[:human genes:f:fnta|FNTA]]|0.422| |[[:human genes:t:tti2|TTI2]]|0.421| |[[:human genes:m:med16|MED16]]|0.418| |[[:human genes:m:mad2l1|MAD2L1]]|0.418| |[[:human genes:a:alg13|ALG13]]|0.418| |[[:human genes:d:ddx55|DDX55]]|0.417| |[[:human genes:r:rbm14|RBM14]]|0.416| |[[:human genes:t:tsen54|TSEN54]]|0.411| |[[:human genes:t:tbca|TBCA]]|0.41| |[[:human genes:a:aars|AARS]]|0.407| |[[:human genes:w:wdr82|WDR82]]|0.406| |[[:human genes:z:znf259|ZNF259]]|0.405| |[[:human genes:s:sdha|SDHA]]|0.405| |[[:human genes:e:exoc4|EXOC4]]|0.403| |[[:human genes:o:oip5|OIP5]]|0.401| |[[:human genes:e:eny2|ENY2]]|0.401| |[[:human genes:n:nhp2|NHP2]]|0.401| |[[:human genes:g:gpn2|GPN2]]|0.401| Global Fraction of Cell Lines Where Essential: 732/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|1/1| |909776.0|1/1| |bile duct|28/28| |blood|28/28| |bone|25/26| |breast|33/33| |central nervous system|56/56| |cervix|4/4| |colorectal|17/17| |esophagus|13/13| |fibroblast|1/1| |gastric|16/16| |kidney|20/21| |liver|20/20| |lung|75/75| |lymphocyte|16/16| |ovary|26/26| |pancreas|24/24| |peripheral nervous system|14/16| |plasma cell|15/15| |prostate|1/1| |skin|24/24| |soft tissue|9/9| |thyroid|2/2| |upper aerodigestive|22/22| |urinary tract|29/29| |uterus|5/5| == Essentiality in NALM6 == * **Essentiality Rank**: 1345 * **Expression level (log2 read counts)**: 6.93 {{:chemogenomics:nalm6 dist.png?nolink |}}