GEMI7_HUMAN
ID GEMI7_HUMAN Reviewed; 131 AA.
AC Q9H840; Q6IA34;
DT 19-SEP-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 173.
DE RecName: Full=Gem-associated protein 7;
DE Short=Gemin-7;
DE AltName: Full=SIP3;
GN Name=GEMIN7;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 30-57, FUNCTION,
RP INTERACTION WITH SMN1; GEMIN6; SNRPB; SNRPD2; SNRPD3 AND SNRPE, AND
RP SUBCELLULAR LOCATION.
RX PubMed=12065586; DOI=10.1074/jbc.m203478200;
RA Baccon J., Pellizzoni L., Rappsilber J., Mann M., Dreyfuss G.;
RT "Identification and characterization of Gemin7, a novel component of the
RT survival of motor neuron complex.";
RL J. Biol. Chem. 277:31957-31962(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Retinoblastoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Uterus;
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 [6]
RP FUNCTION, IDENTIFICATION IN THE SMN COMPLEX, AND IDENTIFICATION IN SMN-SM
RP COMPLEX.
RX PubMed=16314521; DOI=10.1128/mcb.25.24.10989-11004.2005;
RA Golembe T.J., Yong J., Dreyfuss G.;
RT "Specific sequence features, recognized by the SMN complex, identify snRNAs
RT and determine their fate as snRNPs.";
RL Mol. Cell. Biol. 25:10989-11004(2005).
RN [7]
RP IDENTIFICATION IN THE SMN COMPLEX, AND INTERACTION WITH GEMIN6 AND
RP STRAP/UNRIP.
RX PubMed=17178713; DOI=10.1074/jbc.m608528200;
RA Otter S., Grimmler M., Neuenkirchen N., Chari A., Sickmann A., Fischer U.;
RT "A comprehensive interaction map of the human survival of motor neuron
RT (SMN) complex.";
RL J. Biol. Chem. 282:5825-5833(2007).
RN [8]
RP FUNCTION IN SNRNP BIOGENESIS, AND IDENTIFICATION IN SMN-SM COMPLEX.
RX PubMed=18984161; DOI=10.1016/j.cell.2008.09.020;
RA Chari A., Golas M.M., Klingenhager M., Neuenkirchen N., Sander B.,
RA Englbrecht C., Sickmann A., Stark H., Fischer U.;
RT "An assembly chaperone collaborates with the SMN complex to generate
RT spliceosomal SnRNPs.";
RL Cell 135:497-509(2008).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [10]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22223895; DOI=10.1074/mcp.m111.015131;
RA Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T.,
RA Giglione C.;
RT "Comparative large-scale characterisation of plant vs. mammal proteins
RT reveals similar and idiosyncratic N-alpha acetylation features.";
RL Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012).
RN [11]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [12]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-3, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [13]
RP X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 47-131 IN COMPLEX WITH GEMIN6, AND
RP INTERACTION WITH SNRPB; SNRPD2; SNRPD3 AND SNRPE.
RX PubMed=15939020; DOI=10.1016/j.str.2005.03.014;
RA Ma Y., Dostie J., Dreyfuss G., Van Duyne G.D.;
RT "The Gemin6-Gemin7 heterodimer from the survival of motor neurons complex
RT has an Sm protein-like structure.";
RL Structure 13:883-892(2005).
RN [14] {ECO:0007744|PDB:7BBL}
RP X-RAY CRYSTALLOGRAPHY (1.52 ANGSTROMS) OF 46-131, AND INTERACTION WITH
RP GEMIN6 AND GEMIN8.
RX PubMed=33754639; DOI=10.1093/nar/gkab158;
RA Veepaschit J., Viswanathan A., Bordonne R., Grimm C., Fischer U.;
RT "Identification and structural analysis of the Schizosaccharomyces pombe
RT SMN complex.";
RL Nucleic Acids Res. 49:gkab158-gkab158(2021).
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.
CC {ECO:0000269|PubMed:12065586, ECO:0000269|PubMed:18984161}.
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 (PubMed:12065586, PubMed:18984161, PubMed:15939020, PubMed:16314521,
CC PubMed:17178713). 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 (PubMed:18984161, PubMed:16314521). Interacts with
CC GEMIN6; the interaction is direct (PubMed:33754639, PubMed:12065586,
CC PubMed:15939020, PubMed:17178713). Interacts with STRAP/UNRIP; the
CC interaction is direct (PubMed:17178713). Interacts with GEMIN8; the
CC interaction is direct (PubMed:33754639). Interacts with SNRPB, SNRPD2,
CC SNRPD3 and SNRPE; the interaction is direct (PubMed:12065586,
CC PubMed:15939020). {ECO:0000269|PubMed:12065586,
CC ECO:0000269|PubMed:15939020, ECO:0000269|PubMed:16314521,
CC ECO:0000269|PubMed:17178713, ECO:0000269|PubMed:18984161,
CC ECO:0000269|PubMed:33754639}.
CC -!- INTERACTION:
CC Q9H840; Q8WXD5: GEMIN6; NbExp=21; IntAct=EBI-715455, EBI-752301;
CC Q9H840; Q9Y3F4: STRAP; NbExp=5; IntAct=EBI-715455, EBI-727414;
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleoplasm
CC {ECO:0000269|PubMed:12065586}. Nucleus, gem
CC {ECO:0000269|PubMed:12065586}. Cytoplasm {ECO:0000269|PubMed:12065586}.
CC Note=Found both in the nucleoplasm and in nuclear bodies called gems
CC (Gemini of Cajal bodies) that are often in proximity to Cajal (coiled)
CC bodies. Also found in the cytoplasm.
CC -!- SIMILARITY: Belongs to the gemin-7 family. {ECO:0000305}.
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DR EMBL; AY114106; AAM44083.1; -; mRNA.
DR EMBL; AK024018; BAB14780.1; -; mRNA.
DR EMBL; CR457321; CAG33602.1; -; mRNA.
DR EMBL; CH471126; EAW57321.1; -; Genomic_DNA.
DR EMBL; BC007793; AAH07793.1; -; mRNA.
DR CCDS; CCDS12654.1; -.
DR RefSeq; NP_001007270.1; NM_001007269.1.
DR RefSeq; NP_001007271.1; NM_001007270.1.
DR RefSeq; NP_001305983.1; NM_001319054.1.
DR RefSeq; NP_001305984.1; NM_001319055.1.
DR RefSeq; NP_078983.1; NM_024707.2.
DR RefSeq; XP_005259319.1; XM_005259262.3.
DR RefSeq; XP_005259320.1; XM_005259263.4.
DR RefSeq; XP_016882801.1; XM_017027312.1.
DR PDB; 1Y96; X-ray; 2.00 A; B/D=47-131.
DR PDB; 7BBL; X-ray; 1.52 A; B/D=46-131.
DR PDBsum; 1Y96; -.
DR PDBsum; 7BBL; -.
DR AlphaFoldDB; Q9H840; -.
DR SMR; Q9H840; -.
DR BioGRID; 122869; 64.
DR ComplexPortal; CPX-6031; SMN complex.
DR CORUM; Q9H840; -.
DR DIP; DIP-41750N; -.
DR IntAct; Q9H840; 46.
DR MINT; Q9H840; -.
DR STRING; 9606.ENSP00000270257; -.
DR ChEMBL; CHEMBL4105841; -.
DR iPTMnet; Q9H840; -.
DR PhosphoSitePlus; Q9H840; -.
DR BioMuta; GEMIN7; -.
DR DMDM; 34922127; -.
DR EPD; Q9H840; -.
DR jPOST; Q9H840; -.
DR MassIVE; Q9H840; -.
DR MaxQB; Q9H840; -.
DR PaxDb; Q9H840; -.
DR PeptideAtlas; Q9H840; -.
DR PRIDE; Q9H840; -.
DR ProteomicsDB; 81175; -.
DR Antibodypedia; 31264; 159 antibodies from 22 providers.
DR DNASU; 79760; -.
DR Ensembl; ENST00000270257.9; ENSP00000270257.3; ENSG00000142252.11.
DR Ensembl; ENST00000391951.2; ENSP00000375813.1; ENSG00000142252.11.
DR Ensembl; ENST00000591607.1; ENSP00000466342.1; ENSG00000142252.11.
DR Ensembl; ENST00000591747.5; ENSP00000465704.1; ENSG00000142252.11.
DR GeneID; 79760; -.
DR KEGG; hsa:79760; -.
DR MANE-Select; ENST00000270257.9; ENSP00000270257.3; NM_024707.3; NP_078983.1.
DR UCSC; uc002pap.2; human.
DR CTD; 79760; -.
DR DisGeNET; 79760; -.
DR GeneCards; GEMIN7; -.
DR HGNC; HGNC:20045; GEMIN7.
DR HPA; ENSG00000142252; Low tissue specificity.
DR MIM; 607419; gene.
DR neXtProt; NX_Q9H840; -.
DR OpenTargets; ENSG00000142252; -.
DR PharmGKB; PA134959810; -.
DR VEuPathDB; HostDB:ENSG00000142252; -.
DR eggNOG; ENOG502S59N; Eukaryota.
DR GeneTree; ENSGT00390000018039; -.
DR HOGENOM; CLU_2031900_0_0_1; -.
DR InParanoid; Q9H840; -.
DR OMA; FQMYENV; -.
DR OrthoDB; 1517114at2759; -.
DR PhylomeDB; Q9H840; -.
DR PathwayCommons; Q9H840; -.
DR Reactome; R-HSA-191859; snRNP Assembly.
DR Reactome; R-HSA-9754678; SARS-CoV-2 modulates host translation machinery.
DR SignaLink; Q9H840; -.
DR SIGNOR; Q9H840; -.
DR BioGRID-ORCS; 79760; 559 hits in 1048 CRISPR screens.
DR ChiTaRS; GEMIN7; human.
DR EvolutionaryTrace; Q9H840; -.
DR GenomeRNAi; 79760; -.
DR Pharos; Q9H840; Tbio.
DR PRO; PR:Q9H840; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9H840; protein.
DR Bgee; ENSG00000142252; Expressed in lower esophagus mucosa and 144 other tissues.
DR Genevisible; Q9H840; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; IDA:UniProtKB.
DR GO; GO:0097504; C:Gemini of coiled bodies; IDA:UniProtKB.
DR GO; GO:0016604; C:nuclear body; IDA:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; IDA:UniProtKB.
DR GO; GO:0120114; C:Sm-like protein family complex; IBA:GO_Central.
DR GO; GO:0032797; C:SMN complex; IDA:UniProtKB.
DR GO; GO:0034719; C:SMN-Sm protein complex; IDA:UniProtKB.
DR GO; GO:0000398; P:mRNA splicing, via spliceosome; TAS:UniProtKB.
DR GO; GO:0000387; P:spliceosomal snRNP assembly; IDA:UniProtKB.
DR CDD; cd11677; Gemin7; 1.
DR InterPro; IPR020338; SMN_gemin7.
DR InterPro; IPR024642; SUZ-C.
DR PANTHER; PTHR14679; PTHR14679; 1.
DR Pfam; PF11095; Gemin7; 1.
DR Pfam; PF12901; SUZ-C; 1.
DR PROSITE; PS51938; SUZ_C; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Cytoplasm; Direct protein sequencing;
KW mRNA processing; mRNA splicing; Nucleus; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..131
FT /note="Gem-associated protein 7"
FT /id="PRO_0000087462"
FT DOMAIN 1..29
FT /note="SUZ-C"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01287"
FT MOD_RES 1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0007744|PubMed:22223895,
FT ECO:0007744|PubMed:22814378"
FT MOD_RES 3
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT HELIX 51..71
FT /evidence="ECO:0007829|PDB:7BBL"
FT TURN 72..75
FT /evidence="ECO:0007829|PDB:7BBL"
FT STRAND 76..82
FT /evidence="ECO:0007829|PDB:7BBL"
FT HELIX 83..85
FT /evidence="ECO:0007829|PDB:7BBL"
FT STRAND 87..95
FT /evidence="ECO:0007829|PDB:7BBL"
FT STRAND 97..99
FT /evidence="ECO:0007829|PDB:7BBL"
FT STRAND 102..109
FT /evidence="ECO:0007829|PDB:7BBL"
FT STRAND 112..119
FT /evidence="ECO:0007829|PDB:7BBL"
FT HELIX 121..123
FT /evidence="ECO:0007829|PDB:7BBL"
FT STRAND 124..129
FT /evidence="ECO:0007829|PDB:7BBL"
SQ SEQUENCE 131 AA; 14537 MW; 6E118922AFDCF567 CRC64;
MQTPVNIPVP VLRLPRGPDG FSRGFAPDGR RAPLRPEVPE IQECPIAQES LESQEQRARA
ALRERYLRSL LAMVGHQVSF TLHEGVRVAA HFGATDLDVA NFYVSQLQTP IGVQAEALLR
CSDIISYTFK P
