SLIP_HUMAN
ID SLIP_HUMAN Reviewed; 796 AA.
AC Q68CJ6; Q6ZP73;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 23-MAR-2010, sequence version 3.
DT 03-AUG-2022, entry version 123.
DE RecName: Full=Nuclear GTPase SLIP-GC;
DE EC=3.6.1.-;
DE AltName: Full=Speckled-like pattern in the germinal center;
GN Name=NUGGC; Synonyms=C8orf80; ORFNames=HMFN0672;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS PRO-23; ARG-328 AND
RP ASN-474.
RC TISSUE=Hepatoblastoma;
RX PubMed=15221005; DOI=10.1038/sj.onc.1207782;
RA Yamada S., Ohira M., Horie H., Ando K., Takayasu H., Suzuki Y., Sugano S.,
RA Hirata T., Goto T., Matsunaga T., Hiyama E., Hayashi Y., Ando H., Suita S.,
RA Kaneko M., Sasaki F., Hashizume K., Ohnuma N., Nakagawara A.;
RT "Expression profiling and differential screening between hepatoblastomas
RT and the corresponding normal livers: identification of high expression of
RT the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas.";
RL Oncogene 23:5901-5911(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 586-796.
RC TISSUE=Kidney;
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 [4]
RP FUNCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=19734146; DOI=10.1074/jbc.m109.014506;
RA Richter K., Brar S.S., Ray M., Pisitkun P., Bolland S., Verkoczy L.,
RA Diaz M.;
RT "Speckled-like pattern in the germinal center (SLIP-GC): a nuclear GTPase
RT expressed in activation-induced deaminase-expressing lymphomas and germinal
RT center B cells.";
RL J. Biol. Chem. 284:30652-30661(2009).
CC -!- FUNCTION: Nuclear GTPase found in germinal center B-cells, where it may
CC inhibit function of the activation-induced cytidine deaminase AICDA
CC (PubMed:19734146). Reduces somatic hypermutation in B-cells which may
CC enhance genome stability (By similarity).
CC {ECO:0000250|UniProtKB:D3YWJ0, ECO:0000269|PubMed:19734146}.
CC -!- SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:19734146}.
CC -!- TISSUE SPECIFICITY: Expressed in germinal center B-cell and in
CC lymphomas derived from germinal center B-cell.
CC {ECO:0000269|PubMed:19734146}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC85251.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAD38652.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
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DR EMBL; AC091573; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AB075870; BAD38652.1; ALT_SEQ; mRNA.
DR EMBL; AK129923; BAC85251.1; ALT_INIT; mRNA.
DR CCDS; CCDS47833.1; -.
DR RefSeq; NP_001010906.1; NM_001010906.1.
DR AlphaFoldDB; Q68CJ6; -.
DR BioGRID; 133203; 5.
DR STRING; 9606.ENSP00000408697; -.
DR iPTMnet; Q68CJ6; -.
DR PhosphoSitePlus; Q68CJ6; -.
DR BioMuta; NUGGC; -.
DR DMDM; 292495064; -.
DR jPOST; Q68CJ6; -.
DR MassIVE; Q68CJ6; -.
DR PaxDb; Q68CJ6; -.
DR PeptideAtlas; Q68CJ6; -.
DR PRIDE; Q68CJ6; -.
DR ProteomicsDB; 66002; -.
DR Antibodypedia; 5386; 36 antibodies from 13 providers.
DR DNASU; 389643; -.
DR Ensembl; ENST00000413272.7; ENSP00000408697.2; ENSG00000189233.12.
DR GeneID; 389643; -.
DR KEGG; hsa:389643; -.
DR MANE-Select; ENST00000413272.7; ENSP00000408697.2; NM_001010906.2; NP_001010906.1.
DR UCSC; uc003xgm.4; human.
DR CTD; 389643; -.
DR DisGeNET; 389643; -.
DR GeneCards; NUGGC; -.
DR HGNC; HGNC:33550; NUGGC.
DR HPA; ENSG00000189233; Group enriched (liver, lymphoid tissue).
DR MIM; 619088; gene.
DR neXtProt; NX_Q68CJ6; -.
DR OpenTargets; ENSG00000189233; -.
DR PharmGKB; PA162380784; -.
DR VEuPathDB; HostDB:ENSG00000189233; -.
DR eggNOG; ENOG502QVUX; Eukaryota.
DR GeneTree; ENSGT00390000007091; -.
DR HOGENOM; CLU_019456_0_0_1; -.
DR InParanoid; Q68CJ6; -.
DR OMA; IEQCFAH; -.
DR OrthoDB; 455050at2759; -.
DR PhylomeDB; Q68CJ6; -.
DR TreeFam; TF352086; -.
DR PathwayCommons; Q68CJ6; -.
DR BioGRID-ORCS; 389643; 13 hits in 1074 CRISPR screens.
DR ChiTaRS; NUGGC; human.
DR GenomeRNAi; 389643; -.
DR Pharos; Q68CJ6; Tbio.
DR PRO; PR:Q68CJ6; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q68CJ6; protein.
DR Bgee; ENSG00000189233; Expressed in liver and 70 other tissues.
DR ExpressionAtlas; Q68CJ6; baseline and differential.
DR GO; GO:0016607; C:nuclear speck; IEA:UniProtKB-SubCell.
DR GO; GO:0005525; F:GTP binding; IEA:UniProtKB-KW.
DR GO; GO:0003924; F:GTPase activity; IDA:UniProtKB.
DR GO; GO:0071222; P:cellular response to lipopolysaccharide; IDA:UniProtKB.
DR GO; GO:0043066; P:negative regulation of apoptotic process; IMP:UniProtKB.
DR GO; GO:0033262; P:regulation of nuclear cell cycle DNA replication; IMP:UniProtKB.
DR Gene3D; 3.40.50.300; -; 2.
DR InterPro; IPR045063; Dynamin_N.
DR InterPro; IPR027417; P-loop_NTPase.
DR Pfam; PF00350; Dynamin_N; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
PE 2: Evidence at transcript level;
KW Coiled coil; GTP-binding; Hydrolase; Nucleotide-binding; Nucleus;
KW Reference proteome.
FT CHAIN 1..796
FT /note="Nuclear GTPase SLIP-GC"
FT /id="PRO_0000299479"
FT REGION 1..35
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 158..185
FT /evidence="ECO:0000255"
FT COILED 745..775
FT /evidence="ECO:0000255"
FT BINDING 107..114
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000255"
FT VARIANT 23
FT /note="R -> P (in dbSNP:rs6998705)"
FT /evidence="ECO:0000269|PubMed:15221005"
FT /id="VAR_034823"
FT VARIANT 180
FT /note="S -> G (in dbSNP:rs4732620)"
FT /id="VAR_034824"
FT VARIANT 328
FT /note="Q -> R (in dbSNP:rs7817227)"
FT /evidence="ECO:0000269|PubMed:15221005"
FT /id="VAR_034825"
FT VARIANT 474
FT /note="S -> N (in dbSNP:rs13279787)"
FT /evidence="ECO:0000269|PubMed:15221005"
FT /id="VAR_034826"
FT VARIANT 492
FT /note="R -> W (in dbSNP:rs2305453)"
FT /id="VAR_056814"
SQ SEQUENCE 796 AA; 91132 MW; FB8EAA38B9329003 CRC64;
MAETKDVFGQ EPHPVEDDLY KERTRKRRKS DRDQRFRAFP SMEQSALKEY EKLESRTRRV
LSNTYQKLIQ SVFLDDSIPN GVKYLINRLL ALIEKPTVDP IYIALFGSTG AGKSSLINAI
IQQAMFLPVS GESICTSCIV QVSSGCCVQY EAKIHLLSDQ EWREELKNLT KLLHRTEELS
REEADAWNRD EAVEEATWKL QMIYGNGAES KNYEELLRAK PKRKIPTSRV ITLKAEEAEE
LSIKLDPYIR TQRRDWDGEA AEMRIWPLIK HVEVTLPKSD LIPEGVVLVD IPGTGDFNSK
RDEMWKKTID KCSVIWVISD IERVSGGQAH EDLLNESIKA CQRGFCRDVA LVVTKMDKLH
LPEYLRERKA GNQAIQSQRE AVLERNEMIK LQRTRILKEK LKRKLPADFK VLEASDLVYT
VSAQEYWQQA LLTEEETEIP KLREYIRKSL LDKKKRTVTK YVTEAFGLLL LTDSFNSTQN
LPNEHLHMSV LRRFAEEKVE LLEKAIAQCF ACMEQPLQEG VRTARTSYRC ILRACLVRSK
GNQGFHQTLK AVCLKNGIYA SRTLARIDLN EALTQPVYDQ IDPVFGSIFR TGKPTGSALM
PHIDAFKQSL QEKMTEIGIR SGWKYDSCKK NFLIQEISAI LGGLEDHILR RKRRIYESLT
ASVQSDLKLC YEEAAQITGK KACERMKDAI RRGVDRQVAE GMFERAQERM QHQFQQLKTG
IVEKVKGSIT TMLALASSQG DGLYKELADV GSEYKEMEKL HRSLREVAEN ARLRKGMQEF
LLRASPSKAG PPGTSL
