GEMI8_MOUSE
ID GEMI8_MOUSE Reviewed; 238 AA.
AC Q8BHE1; B1AVP4; Q3TUT1; Q8R3W9;
DT 27-SEP-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Gem-associated protein 8;
DE Short=Gemin-8;
DE AltName: Full=Protein FAM51A1;
GN Name=Gemin8; Synonyms=Fam51a1;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Cerebellum, and Eye;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=FVB/N-3; TISSUE=Mammary gland;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP TISSUE SPECIFICITY.
RX PubMed=16434402; DOI=10.1074/jbc.m512243200;
RA Carissimi C., Saieva L., Baccon J., Chiarella P., Maiolica A., Sawyer A.,
RA Rappsilber J., Pellizzoni L.;
RT "Gemin8 is a novel component of the survival motor neuron complex and
RT functions in small nuclear ribonucleoprotein assembly.";
RL J. Biol. Chem. 281:8126-8134(2006).
CC -!- FUNCTION: The SMN complex catalyzes the assembly of small nuclear
CC ribonucleoproteins (snRNPs), the building blocks of the spliceosome,
CC and thereby plays an important role in the splicing of cellular pre-
CC mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins
CC SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in
CC a heptameric protein ring on the Sm site of the small nuclear RNA to
CC form the core snRNP (Sm core). In the cytosol, the Sm proteins SNRPD1,
CC SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm
CC complex by the chaperone CLNS1A that controls the assembly of the core
CC snRNP. To assemble core snRNPs, the SMN complex accepts the trapped 5Sm
CC proteins from CLNS1A forming an intermediate. Binding of snRNA inside
CC 5Sm triggers eviction of the SMN complex, thereby allowing binding of
CC SNRPD3 and SNRPB to complete assembly of the core snRNP (By
CC similarity). {ECO:0000250|UniProtKB:Q9NWZ8}.
CC -!- SUBUNIT: Part of the core SMN complex that contains SMN1, GEMIN2/SIP1,
CC DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP
CC (By similarity). Part of the SMN-Sm complex that contains SMN1,
CC GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8,
CC STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE,
CC SNRPF and SNRPG (By similarity). Interacts with GEMIN6; the interaction
CC is direct (By similarity). Interacts with GEMIN7; the interaction is
CC direct (By similarity). Interacts with SMN1; the interaction is direct
CC (By similarity). Interacts with GEMIN4; the interaction is direct (By
CC similarity). {ECO:0000250|UniProtKB:Q9NWZ8}.
CC -!- SUBCELLULAR LOCATION: Nucleus, gem {ECO:0000250|UniProtKB:Q9NWZ8}.
CC Cytoplasm {ECO:0000250|UniProtKB:Q9NWZ8}. Note=Found in nuclear bodies
CC called gems (Gemini of Cajal bodies) that are often in proximity to
CC Cajal (coiled) bodies. Also found in the cytoplasm (By similarity).
CC {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Widely expressed in embryonic tissues (at protein
CC level). {ECO:0000269|PubMed:16434402}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH23488.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK047511; BAC33077.1; -; mRNA.
DR EMBL; AK053774; BAC35516.1; -; mRNA.
DR EMBL; AK160583; BAE35890.1; -; mRNA.
DR EMBL; AL713990; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC023488; AAH23488.1; ALT_INIT; mRNA.
DR CCDS; CCDS41207.1; -.
DR RefSeq; NP_001297651.1; NM_001310722.1.
DR RefSeq; NP_001297653.1; NM_001310724.1.
DR RefSeq; NP_666350.2; NM_146238.4.
DR AlphaFoldDB; Q8BHE1; -.
DR SMR; Q8BHE1; -.
DR STRING; 10090.ENSMUSP00000085137; -.
DR iPTMnet; Q8BHE1; -.
DR PhosphoSitePlus; Q8BHE1; -.
DR EPD; Q8BHE1; -.
DR MaxQB; Q8BHE1; -.
DR PaxDb; Q8BHE1; -.
DR PeptideAtlas; Q8BHE1; -.
DR PRIDE; Q8BHE1; -.
DR ProteomicsDB; 268862; -.
DR Antibodypedia; 23884; 254 antibodies from 22 providers.
DR Ensembl; ENSMUST00000056410; ENSMUSP00000085137; ENSMUSG00000040621.
DR Ensembl; ENSMUST00000087169; ENSMUSP00000084414; ENSMUSG00000040621.
DR Ensembl; ENSMUST00000130880; ENSMUSP00000118482; ENSMUSG00000040621.
DR GeneID; 237221; -.
DR KEGG; mmu:237221; -.
DR UCSC; uc009uwc.1; mouse.
DR CTD; 54960; -.
DR MGI; MGI:2384300; Gemin8.
DR VEuPathDB; HostDB:ENSMUSG00000040621; -.
DR eggNOG; ENOG502S7KA; Eukaryota.
DR GeneTree; ENSGT00390000013608; -.
DR HOGENOM; CLU_073610_0_0_1; -.
DR InParanoid; Q8BHE1; -.
DR OMA; RAYARYW; -.
DR OrthoDB; 1593621at2759; -.
DR PhylomeDB; Q8BHE1; -.
DR TreeFam; TF328591; -.
DR Reactome; R-MMU-191859; snRNP Assembly.
DR BioGRID-ORCS; 237221; 22 hits in 73 CRISPR screens.
DR PRO; PR:Q8BHE1; -.
DR Proteomes; UP000000589; Chromosome X.
DR RNAct; Q8BHE1; protein.
DR Bgee; ENSMUSG00000040621; Expressed in animal zygote and 85 other tissues.
DR ExpressionAtlas; Q8BHE1; baseline and differential.
DR Genevisible; Q8BHE1; MM.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005829; C:cytosol; ISS:UniProtKB.
DR GO; GO:0097504; C:Gemini of coiled bodies; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0032797; C:SMN complex; ISS:UniProtKB.
DR GO; GO:0034719; C:SMN-Sm protein complex; ISS:UniProtKB.
DR GO; GO:0000387; P:spliceosomal snRNP assembly; ISS:UniProtKB.
DR InterPro; IPR034754; GEMIN8.
DR PANTHER; PTHR16238; PTHR16238; 1.
DR Pfam; PF15348; GEMIN8; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Cytoplasm; mRNA processing; mRNA splicing; Nucleus;
KW Phosphoprotein; Reference proteome.
FT CHAIN 1..238
FT /note="Gem-associated protein 8"
FT /id="PRO_0000087156"
FT REGION 66..127
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 131..164
FT /evidence="ECO:0000255"
FT COMPBIAS 73..107
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 122
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9NWZ8"
FT CONFLICT 97
FT /note="R -> H (in Ref. 3; AAH23488)"
FT /evidence="ECO:0000305"
FT CONFLICT 166
FT /note="D -> Y (in Ref. 3; AAH23488)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 238 AA; 28396 MW; 2C07078598BB4531 CRC64;
MASNWRASAS WYSHPVYARY WQHYHHAMLW MQGHQNAYRK FRDSYFTSPW LFPHGALPWN
SPAYEAGHPW DSQGQHMAQQ ESPYRVSHPK SPGQPLRNSS RTQASTRGNE ARCEEEELES
DSDDEVECDL SNMEITEELR QYFAQTERHR EERRRQQQLD AERLNDYVNA DHGLYFNHRR
SLEPPSEKPW ERRQAEMKRL YGNSAPKILA METAVQLSFD KHCDRKQPKY WPVIPLKF
