GLIS1_HUMAN
ID GLIS1_HUMAN Reviewed; 620 AA.
AC Q8NBF1; Q2M3G9; Q8N9V9;
DT 21-DEC-2004, integrated into UniProtKB/Swiss-Prot.
DT 14-OCT-2008, sequence version 2.
DT 03-AUG-2022, entry version 140.
DE RecName: Full=Zinc finger protein GLIS1;
DE AltName: Full=GLI-similar 1;
GN Name=GLIS1 {ECO:0000312|HGNC:HGNC:29525};
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] {ECO:0000312|EMBL:BAC03494.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ALA-110 AND GLY-187.
RC TISSUE=Glial tumor {ECO:0000312|EMBL:BAC04178.1}, and
RC Testis {ECO:0000312|EMBL:BAC04178.1};
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung, and Placenta;
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 [5]
RP FUNCTION, INTERACTION WITH KLF4; POU5F1; POU5F1B AND SOX2, AND
RP BIOTECHNOLOGY.
RX PubMed=21654807; DOI=10.1038/nature10106;
RA Maekawa M., Yamaguchi K., Nakamura T., Shibukawa R., Kodanaka I.,
RA Ichisaka T., Kawamura Y., Mochizuki H., Goshima N., Yamanaka S.;
RT "Direct reprogramming of somatic cells is promoted by maternal
RT transcription factor Glis1.";
RL Nature 474:225-229(2011).
RN [6]
RP BIOTECHNOLOGY.
RX PubMed=28750082; DOI=10.1371/journal.pone.0182018;
RA Yoshioka N., Dowdy S.F.;
RT "Enhanced generation of iPSCs from older adult human cells by a synthetic
RT five-factor self-replicative RNA.";
RL PLoS ONE 12:E0182018-E0182018(2017).
CC -!- FUNCTION: Acts as both a repressor and activator of transcription
CC (PubMed:21654807). Binds to the consensus sequence 5'-GACCACCCAC-3' (By
CC similarity). By controlling the expression of genes involved in cell
CC differentiation inhibits the lineage commitment of multipotent cells
CC (PubMed:21654807). Prevents, for instance, the differentiation of
CC multipotent mesenchymal cells into adipocyte and osteoblast (By
CC similarity). {ECO:0000250|UniProtKB:Q8K1M4,
CC ECO:0000269|PubMed:21654807}.
CC -!- SUBUNIT: Interacts with KLF4 (PubMed:21654807). Interacts with POU5F1
CC and/or POU5F1B (PubMed:21654807). Interacts with SOX2
CC (PubMed:21654807). {ECO:0000269|PubMed:21654807}.
CC -!- INTERACTION:
CC Q8NBF1; P35321: SPRR1A; NbExp=3; IntAct=EBI-12111022, EBI-6149907;
CC Q8NBF1; Q8IYP9: ZDHHC23; NbExp=3; IntAct=EBI-12111022, EBI-12111024;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8K1M4}.
CC -!- BIOTECHNOLOGY: The combined transgenic expression of the OSK
CC transcription factors POU5F1/OCT4, SOX2 and KLF4, reprograms
CC differentiated cells into induced pluripotent stem cells/iSPCs. iPSCs
CC exhibit the morphology and properties of embryonic stem/ES cells. The
CC coexpression of GLIS1 can increase the efficiency of OSK-induced
CC pluripotent stem cells/iPSCs production. {ECO:0000269|PubMed:21654807,
CC ECO:0000269|PubMed:28750082}.
CC -!- SIMILARITY: Belongs to the GLI C2H2-type zinc-finger protein family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04178.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK090634; BAC03494.1; -; mRNA.
DR EMBL; AK093474; BAC04178.1; ALT_INIT; mRNA.
DR EMBL; AC105280; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL591720; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471059; EAX06734.1; -; Genomic_DNA.
DR EMBL; BC101799; AAI01800.1; -; mRNA.
DR EMBL; BC104911; AAI04912.1; -; mRNA.
DR CCDS; CCDS582.1; -.
DR RefSeq; NP_671726.2; NM_147193.2.
DR AlphaFoldDB; Q8NBF1; -.
DR SMR; Q8NBF1; -.
DR BioGRID; 127182; 16.
DR IntAct; Q8NBF1; 5.
DR STRING; 9606.ENSP00000309653; -.
DR iPTMnet; Q8NBF1; -.
DR PhosphoSitePlus; Q8NBF1; -.
DR BioMuta; GLIS1; -.
DR DMDM; 209572624; -.
DR MassIVE; Q8NBF1; -.
DR MaxQB; Q8NBF1; -.
DR PaxDb; Q8NBF1; -.
DR PeptideAtlas; Q8NBF1; -.
DR PRIDE; Q8NBF1; -.
DR ProteomicsDB; 72760; -.
DR Antibodypedia; 748; 126 antibodies from 27 providers.
DR DNASU; 148979; -.
DR Ensembl; ENST00000312233.4; ENSP00000309653.2; ENSG00000174332.6.
DR GeneID; 148979; -.
DR KEGG; hsa:148979; -.
DR UCSC; uc001cvr.2; human.
DR CTD; 148979; -.
DR DisGeNET; 148979; -.
DR GeneCards; GLIS1; -.
DR HGNC; HGNC:29525; GLIS1.
DR HPA; ENSG00000174332; Tissue enhanced (prostate, seminal vesicle).
DR MIM; 610378; gene.
DR neXtProt; NX_Q8NBF1; -.
DR OpenTargets; ENSG00000174332; -.
DR PharmGKB; PA134948186; -.
DR VEuPathDB; HostDB:ENSG00000174332; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000159218; -.
DR HOGENOM; CLU_014147_2_1_1; -.
DR InParanoid; Q8NBF1; -.
DR PhylomeDB; Q8NBF1; -.
DR TreeFam; TF350216; -.
DR PathwayCommons; Q8NBF1; -.
DR SignaLink; Q8NBF1; -.
DR BioGRID-ORCS; 148979; 15 hits in 1089 CRISPR screens.
DR ChiTaRS; GLIS1; human.
DR GeneWiki; GLIS1; -.
DR GenomeRNAi; 148979; -.
DR Pharos; Q8NBF1; Tbio.
DR PRO; PR:Q8NBF1; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q8NBF1; protein.
DR Bgee; ENSG00000174332; Expressed in stromal cell of endometrium and 79 other tissues.
DR ExpressionAtlas; Q8NBF1; baseline and differential.
DR Genevisible; Q8NBF1; HS.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; NAS:BHF-UCL.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; ISS:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; ISS:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR InterPro; IPR043359; GLI-like.
DR InterPro; IPR030430; GLIS1.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR PANTHER; PTHR45718; PTHR45718; 1.
DR PANTHER; PTHR45718:SF3; PTHR45718:SF3; 1.
DR Pfam; PF00096; zf-C2H2; 3.
DR SMART; SM00355; ZnF_C2H2; 5.
DR SUPFAM; SSF57667; SSF57667; 3.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 4.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 4.
PE 1: Evidence at protein level;
KW Activator; Differentiation; DNA-binding; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Repressor; Transcription;
KW Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..620
FT /note="Zinc finger protein GLIS1"
FT /id="PRO_0000047209"
FT ZN_FING 195..220
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 229..256
FT /note="C2H2-type 2; atypical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 262..286
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 292..316
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 322..346
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 108..132
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 414..515
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 340..356
FT /note="Bipartite nuclear localization signal"
FT /evidence="ECO:0000255"
FT COMPBIAS 466..512
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 110
FT /note="T -> A (in dbSNP:rs4307514)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_047031"
FT VARIANT 157
FT /note="F -> L (in dbSNP:rs34961060)"
FT /id="VAR_033544"
FT VARIANT 187
FT /note="A -> G (in dbSNP:rs35227000)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_047032"
FT CONFLICT 221
FT /note="I -> T (in Ref. 1; BAC03494)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 620 AA; 65976 MW; A07F61B35CF12EB7 CRC64;
MAEARTSLSA HCRGPLATGL HPDLDLPGRS LATPAPSCYL LGSEPSSGLG LQPETHLPEG
SLKRCCVLGL PPTSPASSSP CASSDVTSII RSSQTSLVTC VNGLRSPPLT GDLGGPSKRA
RPGPASTDSH EGSLQLEACR KASFLKQEPA DEFSELFGPH QQGLPPPYPL SQLPPGPSLG
GLGLGLAGRV VAGRQACRWV DCCAAYEQQE ELVRHIEKSH IDQRKGEDFT CFWAGCVRRY
KPFNARYKLL IHMRVHSGEK PNKCMFEGCS KAFSRLENLK IHLRSHTGEK PYLCQHPGCQ
KAFSNSSDRA KHQRTHLDTK PYACQIPGCS KRYTDPSSLR KHVKAHSAKE QQVRKKLHAG
PDTEADVLTE CLVLQQLHTS TQLAASDGKG GCGLGQELLP GVYPGSITPH NGLASGLLPP
AHDVPSRHHP LDATTSSHHH LSPLPMAEST RDGLGPGLLS PIVSPLKGLG PPPLPPSSQS
HSPGGQPFPT LPSKPSYPPF QSPPPPPLPS PQGYQGSFHS IQSCFPYGDC YRMAEPAAGG
DGLVGETHGF NPLRPNGYHS LSTPLPATGY EALAEASCPT ALPQQPSEDV VSSGPEDCGF
FPNGAFDHCL GHIPSIYTDT
